A Survey of Genetic Counselors' Current Methods of Implementing

Home , Genetic counseling

A Survey of Genetic Counselors’ Current Methods of Implementing Telegenetics

Services

Thesis

Presented in Partial Fulfillment of the Requirements for the Degree Master of Science in

the Graduate School of The Ohio State University

Brenda Isabel Zuniga

Graduate Program in Genetic Counseling

The Ohio State University

2018

Master’s Examination Committee

Kate Shane, MS, LGC, Advisor

Dawn C. Allain, MS, LGC

Lindsey Byrne, MS, LGC

Kate Lynch, MS, LGC, Consultant

Copyrighted by

Brenda Isabel Zuniga

2018

Abstract

The field of clinical genetics is rapidly evolving, leading to an increase in demand for genetic counseling services. The use of telegenetics allows genetic counselors and other genetics providers to increase access to services by facilitating the ability to communicate with patients across long distances and reach underserved populations. The aims of this study were to characterize the various components of the telegenetics delivery model, as well as describe the perceived benefits and limitations. Full members of the National Society of Genetic Counselors (NSGC) who currently provide telegenetic services or have previously provided telegenetic services to counsel patients were invited to participate in a web-based survey. Eligible respondents were asked to complete 48 items related to the logistics of the delivery of telegenetic services, perceived benefits and limitations, useful resources, and recommendations for improvement of the delivery of telegenetic services. One-hundred fifty-nine members of the NSGC responded. Fifty-two percent and 23.4% of respondents reported providing telegenetic services in the cancer and prenatal specialties respectively, the remainder reported providing telegenetic services in a variety of other specialties. Sixty percent of respondents reported providing telegenetic services in one state and 3.8% in all 50 states, with the majority of respondents (49.4%) reporting that they hold a valid genetic counselor practice license in only one state and only 1.9% had a license in 20 states. The most common software

ii platforms used for video and audio access were Vidyo (13.9%), Skype (12.0%), and

Cisco WebEx (10.8%). Forty-three percent of respondents reported software as top barriers/limitations of the delivery of telegenetic services. Seventy-seven percent of respondents report they rely on their support staff to schedule the appointment; however, scheduling continues to be a significant barrier. Twenty-seven percent of respondents reported billing the patient for the telegenetic services and 38.0% reported not. Although this study found an increase in genetic counselors who bill for telegenetic services compared to previous studies, billing is still perceived as the biggest barrier to the delivery of telegenetic services. It is hoped that the study findings will help provide a framework for the development of telegenetic practice guidelines and service delivery logistics. In addition, it may aid in the incorporation of telegenetic services into the practice of other genetic professionals.

iii

Dedication

This document is dedicated to my parents Hilda and Jamie, my sisters Vicky and Caitlyn,

and my grandmother Virginia.

Acknowledgments

I would like to first thank my thesis advisor, Kate Shane, for her expertise and support throughout the process. I would like to also acknowledge my thesis committee members and consultant for their constant support and professional expertise: Dawn Allain,

Lindsey Byrne, and Kate Lynch. I thank the NSGC Health IT SIG for the research award used to fund this study and the genetic counselors who participated in this research study.

A special thanks to Jonathan Race for statistical support. I am also thankful for the continuous support of the graduate program leaders Dawn Allain and Leigha Senter.

Finally, I would like to thank my mother, Hilda, and my sisters Vicky and Caitlyn for their unconditional love and ongoing encouragement throughout this journey.

Vita

May 2004…………………………………………………Frederick High School

May 2009…………………………………………………B.S. Chemistry, University of

Colorado – Denver

2009 to 2013……………………………………………...Cytogenetics Technologist,

Children Mercy Hospital

2013 to 2016……………………………………………...Cytogenetics Technologist,

Colorado Genetics Lab

2016 to present……………………………………………M.S. Genetic Counseling,

The Ohio State University

Fields of Study

Major Field: Genetic Counseling

Table of Contents

Abstract ...... ii Dedication ...... iv Acknowledgments...... v Vita ...... vi List of Tables ...... ix List of Figures ...... x Chapter 1. Introduction ...... 1 History of Telegenetics ...... 1 Need for Telegenetics ...... 3 Acceptance of Telegenetics ...... 4 Benefits of Telegenetics ...... 5 The Logistics of the Service Delivery Model ...... 6 Hardware and software ...... 6 Billing and Funding ...... 7 Licensure ...... 8 Patient and genetic counselor location ...... 9 Specialty ...... 10 Visual aids ...... 11 Genetic testing, result disclosure and appointment length...... 11 Demographics of genetic counselors providing telegenetics ...... 12 Limitations and Barriers of Telegenetics ...... 13 Study Aims...... 15 Chapter 2. Methods ...... 16 Study Design ...... 16 Target Population ...... 16 Eligibility Criteria ...... 17

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Exclusion Criteria ...... 17 Survey Instrumentation ...... 17 Participant Incentives ...... 18 Statistical Data Analysis ...... 19 Chapter 3. Results ...... 20 Study Sample ...... 20 Specialty area ...... 20 Years of experience...... 21 Employment setting ...... 22 Number of states in which each genetic counselor provides telegenetics ...... 23 Licensure ...... 24 The Logistics of the Telegenetics Appointment ...... 25 Software and hardware ...... 25 Patient referring provider ...... 28 Appointment scheduling and patient records available to the genetic counselor prior to the appointment...... 28 Patient and genetic counselor location, appointment length and individuals present in the appointment...... 30 Genetic testing and result disclosure...... 33 Billing ...... 35 Barriers and limitations of the service delivery model ...... 37 Additional resources and recommendations for improvement ...... 38 Chapter 4. Discussion ...... 45 Licensure ...... 46 The Logistics of the Telegenetics Appointment ...... 48 Billing ...... 52 Useful Resources and Improvement Recommendations ...... 53 Chapter 5. Limitations and Future Directions...... 56 Chapter 6. Conclusion ...... 58 References ...... 60 Appendix A. Survey Invitation ...... 68 Appendix B. Genetic Counselor Survey ...... 70

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List of Tables

Table 1 Genetic Counselor Employment Setting ...... 22

Table 2 Equipment Set-Up for Video and Voice Access for the Delivery of Telegenetic

Services ...... 27

Table 3 Referring Sites for Patients who Receive Telegenetic Services ...... 28

Table 4 Telegenetics Appointment Scheduler ...... 29

Table 5 Patient Information Available to Genetic Counselor Prior to Telegenetics

Appointment ...... 30

Table 6 Patient and Genetic Counselor Location during the Telegenetics Appointment. 31

Table 7 Correlation of Specialty with Appointment Length ...... 32

Table 8 Individuals Present During the Telegenetics Appointment ...... 33

Table 9 Genetic Testing Practices for Telegenetics ...... 34

Table 10 Specialties Mailing Test Kits to Patient’s Home for Sample Collection ...... 35

Table 11 Billing Practices ...... 36

Table 12 Billing Using CPT Code 96040 by Specialty ...... 37

Table 13 Barriers and Limitations of the Service Delivery Model ...... 38

Table 14 Useful Resources ...... 39

Table 15 Improvement Recommendations ...... 40

List of Figures

Figure 1 Specialty Area in which Respondents Provide Telegenetic Services ...... 21

Figure 2 Number of States in which Respondents Provide Telegenetic Services ...... 23

Figure 3 Number of States where Respondents are Licensed ...... 25

Figure 4 Software used for Telegenetic Services ...... 26

Chapter 1. Introduction

History of Telegenetics

Historically, genetic testing was used to test for single gene variants associated with specific conditions. However, the rapid evolution of genomics has resulted in its accelerated incorporation into many areas of medicine. The exponential increase in genetics technology and knowledge, especially next-generation sequencing and personalized genomic medicine, has led to broader applications of diagnostic and treatment options (Cohen et al. 2013; Evans et al. 2014; Knapke et al. 2016; Vrecar et al.

2016). Genetic testing can now be utilized to test for multiple conditions simultaneously through microarrays, multiple gene panels and whole exome or genome sequencing.

Consequently, the field of clinical genetics is rapidly evolving, leading to an increase in demand for genetic counseling services in areas across all specialties such as prenatal, pediatrics, cancer, ophthalmology, cardiology, carrier screening, pharmacogenomics, and newborn screening.

Studies have shown that genetic counselors are reacting to the increase in demand by incorporating alternative service delivery models into their practice (Cohen et al.

2013; Buchanan et al. 2016; Hilgart et al. 2012). In addition to the traditional in-person genetic counseling service delivery model, telephone counseling, group counseling, and telegenetics have gained popularity in recent years (Baumanis et al. 2009; Ridge et al.

2009). In 2013, a survey of 701 National Society of Genetic Counselors (NSGC) members found that 43% (304) of genetic counselors use more than one service delivery model. Of these genetic counselors, 8.0% reported “always” or “often” using telephone counseling, 3.2% group genetic counseling, and 2.2% telegenetics. (Cohen et al. 2013).

In addition, a number of working groups such as the American College of Medical

Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional

Genetic and Newborn Screening Services (NCC) have met periodically to discuss the adoption and incorporation of telemedicine into genetic services (NCC 2016; Shah et al.

2011). Other groups such as the Heartland Genetics and Newborn Screening

Collaborative (Heartland) have created a manual with resources for those who are interested in incorporating telemedicine into their practice (Heartland Genetics and

Newborn Screening Collaborative 2010).

Telemedicine, telehealth and telegenetics are terms often used interchangeably; however, there are differences in their definitions. Telemedicine, as defined by the

American Medical Association, is the “delivery of health care services via electronic means from a health care provider in one location to a patient in another location.” It also refers to the interactive exchange of medical information between two different sites via electronic communications between professional health care providers. This can include telephone only or videoconference (Otten et al. 2016; U.S. Department of Health and

Human Services 2016). Telehealth is described exclusively as the interaction between provider and patient with the use of video and voice communication technologies (U.S.

Department of Health and Human Services 2016). The term telegenetics was derived

2 from these two definitions. According to the NSGC Service Delivery Model Task Force

(SDMTF), telegenetics is defined as “genetic counseling between a genetics provider and a patient provided remotely via videoconference or web-link, including visual and audio access” (Cohen et al. 2013). Telegenetics can also be referred to by genetic counselors and other healthcare providers as telemedicine, videoconference, telehealth and telecommuting; however, not all imply that audio and video technology is utilized simultaneously or with a patient.

Need for Telegenetics

Rural and urban areas including 59 million Americans have shortages of primary care providers (U.S. Department of Health and Human Services 2016). If the shortage for

Primary Care Physician (PCP) access affects a tremendous number of Americans, it can be concluded that a much greater number of Americans do not have access to genetic counseling services. Historically, genetic counselors have been heavily concentrated in urban areas, and virtually absent in clinics located in rural areas (National Society of

Genetic Counselors 2008; American College of Medical Genetics & Genomics 2011).

Several studies have shown that telegenetics and telehealth services appear to increase access to genetic counseling services (Cohen et al. 2016; Hawkins et al. 2013; Lea et al.

2005).

Telegenetics has primarily been used in settings where a physical examination is not required (Vrecar et al. 2016). The American College of Surgeons Commission on

Cancer established that genetic risk assessment and counseling by qualified genetics professionals prior to genetic testing is the standard of care for patients with suspected

3 hereditary cancer conditions (American College of Surgeons 2015; Knapke et al. 2016).

As in the in-person genetic counseling appointment, a telegenetics consultation can be used to elicit medical and family histories, educate patients on the genetics of the condition, offer genetic testing, deliver results, and provide medical management guidelines and psychosocial counseling. More recently, insurance companies such as

Cigna and Medical Mutual began to require genetic counseling in order to financially cover or reimburse for genetic testing (Cigna 2018; Medical Mutual 2018). The first application of telegenetics was reported in 1998 in a cancer pilot study completed in the

United Kingdom (Gray et al. 2000). Since the initial application of telegenetics, several studies have reviewed the use and incorporation of telegenetics mostly in the context of cancer genetics (Buchanan et al. 2016; Zilliacus et al. 2009). The reason for the uneven uptake of telegenetics in cancer may be because these cases often do not require a physical examination (Vrecar et al. 2016). However, other specialties such as adult, prenatal and pediatric genetics have also recently reported the use of telegenetics to counsel patients (Cohen et al. 2016; Scheuner et al. 2014).

Acceptance of Telegenetics

The effectiveness of the telegenetics delivery model has been well documented, compared, and evaluated to the in-person counseling model in the context of cancer genetic counseling in both urban and rural areas (Buchanan et al. 2015; Buchanan et al.

2016; Coelho et at. 2005; Gray et al. 2000; Meropol et al. 2011; Vrecar et al. 2016). In general, the studies report high levels of patient satisfaction related to comfort, cost, reduced travel time, and convenience, as well as overall acceptance by the cancer genetic

4 counseling community (Buchanan et al. 2015; Bradbury et al. 2016; Gray et al. 2000;

Meropol et al. 2011). Patients also report feeling comfortable with the technology of telegenetics (Bradbury et al. 2016; Zilliacus et al. 2009). Overall, studies have proven no difference in patient satisfaction between in-person genetic counseling and telegenetics

(Buchanan et al. 2016; Gray et al. 2000).

Benefits of Telegenetics

Telegenetics allows genetic counselors and other genetics providers to communicate with patients across long distance. The primary benefit of telegenetics is increasing access by reducing travel time and distance for the patient and the provider.

Patients report reduced travel time and shorter wait times as a benefit of telegenetics compared to the in-person model (Bradbury et al. 2016; Cohen et al. 2013; Cohen et al.

2016; d’Agincourt-Canning et al. 2008; Lea et al. 2005; Vrecar et al. 2016; Zilliacus et al.

2010). A 2013 study by Cohen et al. reported that the frequency of accessing genetic counseling via telegenetics was directly proportional to the patient drive time, with 87% of patients living at least 2 hours away from the genetic counselor location and some patients living as far as 4 hours away (Cohen et al. 2013). In a later study, Cohen et al. found that a third of the surveyed genetic counselors that reached patients by telephone and almost half (29/60) that reached patients by telegenetics had patients who lived more than 4 hours away compared to half (282/573) of in-person genetic counselors whose patients lived only 30 minutes away (Cohen et al. 2016). By utilizing telegenetics, genetic counselors and other genetics providers can reach patients with geographical barriers that

5 prevent them from accessing these services via the traditional in-person model (Otten et al. 2016).

Two additional benefits of telegenetics include the ability of the genetic counselor to use visual aids during the appointment and the ability to assess the patient’s body language behaviors that can be highly valuable in the genetic counseling appointment

(Otten et al. 2016). Visual cues allow the genetic counselor to assess the patient’s emotions and understanding, and select the best counseling method for the patient and the family.

The Logistics of the Service Delivery Model

Hardware and software

The use of telegenetics requires an originating site high-speed Internet connection with bandwidth large enough to support the exchange of video and voice data. According to the American Telemedicine Association, it is also important to ensure a secure and private exchange of information through an encrypted connection (American

Telemedicine Association 2017). A secure connection prevents any unauthorized user from accessing patient health information while the two locations are communicating.

Equipment setup depends on the clinical needs. It typically requires a viewing station with video and voice access (i.e. Polycom or Tandberg) at the originating (genetic counselor) and patient sites (Schaefer et al. 2010). This can be done with a desktop computer equipped with a video camera and microphone, special video-conferencing hardware combined with a monitor for display, or a combination of any other hardware that allows for video and voice exchange.

Billing and Funding

Coverage for telehealth services has historically been inconsistent across payers.

In 1997, the Centers for Medicare and Medicaid Services (CMS) established guidelines for telehealth reimbursement for Medicaid and Medicare holders. Reimbursement for

Medicare holders is equal across all 50 states; however, the program gave each state the ability to determine scope of coverage for Medicaid holders. A survey published in 2017 found that 33 of the 41 states who were surveyed allowed Medicaid to cover the expenses for genetic counseling services for women with high risk pregnancies or for those with a positive result in genetic screens (Gifford 2017).

Medicare spent $14 million in 2015 on telehealth services which is about 0.01% of total spending on healthcare services (United States Government Accountability Office

2017). Medicare holders are eligible for telemedicine coverage only if the originating site is in a county outside of a Metropolitan Statistical Area (MSA) or a rural Health

Professional Shortage Area (HPSA) located in a rural census tract (CMS 2016). Most of the payment goes to the consulting provider at the patient site, and about a $25 facility fee is paid to the originating site (Brown 2006). The CMS is currently testing more expansive coverage for telemedicine by eliminating the geographical limitations currently in place. If the changes are approved, beneficiaries would be able to receive telehealth services regardless of their location (U.S. Department of Health and Human Services

2016). Most importantly, Medicare holders must receive the telehealth service from a physician, nurse practitioner, physician assistant, nurse-midwife, clinical nurse specialist, certified registered nurse anesthetist, clinical psychologist, or registered dietician. Based

7 on the CMS list of eligible telehealth providers, genetic counselors are not qualified to receive payment for telegenetic services (CMS 2016).

The Patient Protection and Affordable Care Act requires health insurance plans to cover genetic counseling for those individuals whose family history suggests an increased risk of mutations in BRCA1/2 genes (CMS 2011); however, little information is known about the reimbursement rate of telegenetics. A study in Maine determined that on average, third-party payers reimbursed 30% of the total amount for telegenetics when the bill was submitted using the relevant CPT code with the telehealth modifier “GT” and the

ICD-9 code V63.0 [Residence remote from hospital or other health care facility] (Shah et al. 2011). However, the exact CPT codes and modifiers used in this study were not reported. Most genetic counselors do not bill for alternative service delivery models including telegenetics. In fact, one study discovered that of the 63 genetic counselors who used telegenetics, 11 (17.5%) reported some form of billing, 30 (47.6%) reported no billing, and 8 (12.7%) did not know if billing was performed for telegenetics.

Furthermore, of those who reported a method for billing, five used CPT code 96040, five used CPT Consultation Codes (99241-99245, 99251-99255) and one used “other” (Cohen et al. 2013). The rate of reimbursement using these codes for telegenetics was not reported.

Licensure

According to the American Board of Genetic Counseling (ABGC), “the goal of licensure is to ensure that the licensees have the minimal degree of competency necessary to ensure that public health, safety and/or welfare are protected” (ABGC 2018). Genetic

8 counselors are licensed by state rather than nationally and must apply to each state individually to acquire licensure. Currently, there are 22 states in the United States that issue licensure to genetic counselors (NSGC 2017). According to Cohen et al., 84.3% of genetic counselors were not licensed; however, this study did not assess licensure status of genetic counselors who use telegenetics specifically (Cohen et al. 2013). The requirements for licensure vary from state to state; however, all states require applicants to be certified by the ABGC or the American Board of Medical Genetics (ABMC).

Licensees must also maintain active credentials by earning continuing education credits and reapplying for licensure periodically. The frequency for renewal also varies depending on the state.

The geographic location where the patient is during the appointment is considered the site where the service is being provided; therefore, genetic counselors must hold a license in the state where the patient is situated, not where the genetic counselor is located. If an institution or genetic counselor wishes to provide telegenetic services in states where licensure is required, the genetic counselor must obtain licensure in those states.

Patient and genetic counselor location

The genetic counselor and the patient are usually in different locations during the telegenetics appointment. Typically, the genetic counselor is located at a metropolitan hospital; however, they may also provide telegenetic services through a satellite clinic or private practice office. The patient may be located at an outreach clinic which may or may not be affiliated with the genetic counselor’s employing institution, or the patient’s

9 home (Buchanan et al. 2016; Mette et al. 2016; Zilliacus et al. 2010). For example, Penn

Medicine partners with community hospitals and clinics to provide genetic counseling services to residents near the rural outreach clinics (Penn Medicine Abramson Cancer

Center 2016); however, telegenetics is not utilized exclusively for patients that live in rural areas. It can also be utilized to simply decrease patient wait times to schedule an appointment with a genetic counselor and decrease the overall consultation costs

(Buchanan et al. 2015; Hilgart et al. 2012).

Specialty

A survey of 701 NSGC members reported that 62 of the respondents used telegenetics with 13 of the respondents reporting using telegenetics “always” or “often.”

Of the 13 genetic counselors who used telegenetics “always” or “often,” 2 practiced in the cancer specialty, 3 in general genetics, 3 in prenatal, 2 in pediatrics, and 1 in other

(Cohen et al. 2013). Six years later, the 2016 Professional Status Survey (PSS) conducted by the NSGC found that of the full-time genetic counselors who counsel patients as part of their job, 106 reported seeing new patients via web-based/video with 46% in the cancer specialty and 49% in the prenatal specialty (NSGC 2016).

The PSS also assessed the change in the number of patients seen via web- based/video from 2014 through 2016. They found that of the genetic counselors who counsel patients via web-based/video in the adult genetics and cancer genetics settings, each reported around a 40% increase in new patients, whereas genetic counselors who counsel patients via web-based/video in the cardiology, general genetics, neurogenetics, hematology and infertility specialties each reported a 33% increase in new patients.

Additionally, genetic counselors who counsel patients via web-based/video in the pediatric, pharmacogenetic and prenatal specialties reported an 18%, 50% and 50% increase in new patients over the two-year period respectively (NSGC 2016).

Visual aids

Visual aids are a key component of the genetic counseling appointment (Bradbury et al. 2016). Typically, genetic counselors use visual aids to explain difficult concepts to patients such as the DNA molecule structure, chromosomes, inheritance patterns, and medical procedures. They can be in the form of pictures on paper or electronic devices, and/or videos. The source of the visual aids depends on the genetic counselor’s style, service delivery model and resources available. The nature of the telegenetics delivery model allows the counselor to utilize any visual aid option. With the help of the support team at the patient’s location, the genetic counselor can work out the printing of educational materials that would typically be given to the patient during the in-person appointment (Cohen et al. 2016). The genetic counselor can also prepare slides or videos that can be simultaneously projected on the shared screen (Coelho et al. 2005), or the patient can be instructed to watch a video at home or at the clinic prior to the appointment

(Meropol et al. 2011).

Genetic testing, result disclosure and appointment length

There is insufficient data describing how genetic testing and result disclosure are completed in a telegenetics appointment. In telegenetics, the genetic counselor and the patient can be hundreds of miles away from each other making it difficult for the correct paperwork to be completed and signed by the patient and the ordering provider, as well as

11 coordinating sample collection (Cohen et al. 2016; Schaefer et al. 2010). As for result disclosure, it is becoming common practice to deliver genetic test results by phone rather than scheduling a second in-person appointment (Trepanier et al. 2013). The most common practice for result disclosure for a telegenetics appointment has not been reported.

The length of the genetic counseling appointment is dependent on many factors including specialty and the dynamics of that clinic. Cohen and colleagues also determined that of the 62 genetic counselors who used telegenetics, 77% spent an average of 31-60 minutes with each patient, 12% spent less than 30 minutes, and 12% spent 61-90 minutes with each patient. Alternatively, this study also determined that of the 582 genetic counselors who counseled patients via the traditional in-person model, 72% reported spending an average of 31-60 minutes per patient, 20% reported spending 61-90 minutes per patient, and only 6% reported spending less than 30 minutes with each patient for the traditional in-person appointment (Cohen et al. 2013).

Demographics of genetic counselors providing telegenetics

The study by Cohen et al. also assessed the work setting by service delivery model and determined that of the 13 genetic counselors who utilize telegenetics “always” or “often,” 7 were employed by a University Medical Center, 2 were employed by a public hospital, 2 were employed by a diagnostic laboratory, and 2 were employed by a government agency (Cohen et al. 2013).

Regarding the correlation between years of experience and the use of telegenetics,

Cohen and colleagues also reported that of the 13 genetic counselors who used

12 telegenetics, two had less than 5 years of experience, five had between 5 and 10 years of experience, two had between 11 and 15 years of experience and three had over 15 years of experience (Cohen et al. 2013). Based on this data, it appears that genetic counselors with 5 to 10 years of experience were more likely to incorporate telegenetics into their practice. The study did not identify years of experience using telegenetics specifically.

Additionally, the 2016 PSS reported that 40.7% of the genetic counselors responding to the survey, had graduated with a master in science in genetic counseling within the last 5 years [2010-2015] (PSS 2016).

Limitations and Barriers of Telegenetics

While telegenetics has proven to be an acceptable alternative to in-person genetic counseling, there are limitations and technical issues that require continuous attention and intervention. Practical barriers include technical equipment and bandwidth quality, funding, billing, sample collection, space, scheduling, and licensure. (Bradbury et al.

2016; Buchanan et al. 2016; Lea et al. 2005; Meropol et al. 2011).

Financial support presents a barrier when implementing telegenetic service. The institution and establishment of telegenetics requires funding for the initial purchase of equipment and training of staff, as well as the on-going operation of the service. Grants are typically the main source of funding for the initial establishment of telegenetics (Lea et al. 2005). For example, the Heartland Genetics and Newborn Screening Collaborative funded the purchase of equipment and training of genetics providers at Kansas University

School of Medicine-Wichita (Kubendran et al. 2017). The total cost of implementation includes hardware and software equipment and maintenance, space, clinician

13 credentialing and licensure, and personnel cost. Equipment and software cost around

$2,400 in addition to an average $1,000 in annual maintenance fees (Buchanan et al.

2015). Once the system is established, the cost to provide services has been calculated around $106 per telegenetics patient compared to $244 per in-person counseling patient

(Buchanan et al. 2015). Thereafter, coverage and reimbursement are unknown (U.S.

Department of Health and Human Services 2016).

Many genetic counselors are unable to bill due to the complicated process to establish billing procedures and the lack of recognition of genetic counselors as providers by government entities and insurance companies. The biggest barrier for billing is presented by the Centers for Medicare and Medicaid Services (CMS). As of 2017, genetic counselors are not recognized health care providers eligible to furnish and receive payment for telehealth services by Medicare (CMS 2016). Licensure is also a practical barrier in providing outreach services. Obtaining licensure in multiple states represents a tremendous amount of paperwork, time, and expenses which represent obstacles that many genetic counselors and their employers might not be willing to face (Schaefer et al.

2010).

Other limitations reported by genetic counselors are equipment availability and function, support staff at the patient site, and physical space at both the patient and genetic counselor site (Cohen et al. 2013). Technology malfunction during the appointment affecting the video and voice quality is commonly reported as an issue by genetic counselors and patients (Bradbury et al. 2016; Cohen et al. 2016; Lea et al. 2005;

Vrecar et al. 2016). These issues can arise from the lack of the appropriate equipment and

14 communication bandwidth. Some areas of the country still lack access to internet speeds fast enough to support high-quality voice and video data exchange. The Federal

Communications Commission (FCC) reports that 22 million rural Americans lack access to standard broadband speeds (U.S. Department of Health and Human Services 2016).

Buchanan and colleagues reported that of 74 telegenetics consults, 11 (15%) were interrupted by technical difficulties in which some sessions could not be completed and had to be rescheduled for a different day (Buchanan et al. 2015). An uninterrupted video and voice connection is imperative to communicate effectively with the patient.

Additionally, lack of manpower and professional support and knowledge is another noted barrier to implementation of telemedicine services (Otten et al. 2016;

Vrecar et al. 2016). These challenges impact scheduling, billing, and the coordination of sample collection for genetic testing (Lea et al. 2005).

Study Aims

There is limited information on the logistics of the telegenetics appointment including billing, licensure, hardware and software, visual aids, documentation, scheduling, genetic testing, length of appointment, and employment setting of the telegenetics appointment. Our study aimed to fill these gaps by surveying members of the

NSGC who currently provide telegenetic counseling or have previously provided telegenetic counseling to patients. We also aimed to identify the benefits and barriers of telegenetics as perceived by the genetic counselor. It is hoped the results of this study will provide information useful to standardizing the telegenetic service delivery model.

Chapter 2. Methods

Study Design

This is a descriptive study of a cohort of genetic counselors who provide or have provided telegenetic services. The research was approved by the Institutional Review

Board at The Ohio State University and was performed with careful attention to all human subjects’ rules and regulations. An invitation to participate in the study was extended electronically to full members of the NSGC. The study invitation email included the goal of the study, the qualification requirements to complete the survey, approximate time required to complete the survey, items necessary for informed consent, and the link to the survey (Appendix A). Participation in the study was voluntary; consent was implied by completion of the survey. The online questionnaire was available from

October 23rd, 2017 to November 22nd, 2017 and one reminder was sent two weeks after the initial invitation to participate.

Target Population

The study population included genetic counselors who were current members of the NSGC during the time the survey was open from October 23rd, 2017 through

November 22nd, 2017.

Eligibility Criteria

 Members of NSGC who were currently providing telegenetic counseling to

patients

 Members of NSGC who had previously provided telegenetic counseling to

patients

Exclusion Criteria

 Individuals who were not members of NSGC

 Individuals who did not or had never provided telegenetic services

Survey Instrumentation

The survey contained a total of 49 items which included 45 multiple choice questions, one rating scale question, two open ended questions and one opt in question to receive the gift card incentive (Appendix B). The study was developed and implemented using the Qualtrics online survey system. A response for all items was not required. All data was collected anonymously and only one entry per IP address was allowed.

The first question in the survey employed skip logic and asked the participants if they currently use or have utilized telegenetics in the past to counsel patients. Those who answered “no” to this question were deemed ineligible to participate in the study, directed to the end of the survey, and no further information was obtained. Those individuals who answered “yes” were able to complete the survey.

The first section included six multiple-choice questions about the platform/software and equipment setup for video and audio access for the patient and the genetic counselor. It also included a question about the type of visual aids used during the

17 appointment. The second section included 19 multiple-choice questions about the service delivery focused on gathering information about the specialty areas, scheduling, patient information available to the genetic counselor, patient and genetic counselor location, other individuals present during the appointment, ordering of genetic testing, sample collection, genetic testing result disclosure, language translation services, documentation, length of the appointment, patient awareness of genetic counselor affiliation to the institution, and type of institution that refers the most number of patients for telegenetics.

The third section included three multiple-choice questions about licensure and the fourth section included four multiple-choice questions about billing. The fifth section of the survey included nine multiple-choice questions about the genetic counselor’s demographics. The final section of the survey included two multiple-choice and two rating scale questions about the perceived barriers and limitations of telegenetics; and two open-ended questions about resources and suggestions to improve the telegenetic counseling appointment.

Participant Incentives

The first 30 participants that completed the survey and provided their email contact information were compensated with a $15 Amazon gift card. The gift card was sent in the form of a claim code that the participant could upload to an Amazon account.

The participant contact information was not tied to the participant’s survey responses.

Their contact information was not saved and the participants were advised that they would not be contacted through the email address provided for the incentive.

Statistical Data Analysis

Per the study protocols, all data were categorical responses. Many questions were phrased in such a manner that multiple answers could be selected. Participants were allowed to skip questions. Descriptive statistics were calculated for all questions as the marginal proportions for selected answers. For those questions which allowed for multiple responses, proportions were calculated as the number of respondents who selected a given answer divided by the total sample size. As a result, proportions for questions allowing multiple responses sum to a total greater than 1 or 100%. It was also of interest to explore how answers to various questions might be related. This was accomplished by repeating the above marginal proportion calculations with the additional stipulation that proportions for a first question were calculated within strata defined by answers to a second question. In other words, to explore relationships between the answers of certain questions, conditional proportions were calculated. No statistical tests were performed. All statistics were calculated using the statistical programming language

(R Core Team, 2013) running on a Windows Surface Pro 3, Intel i5 4300 laptop.

Chapter 3. Results

Study Sample

One hundred sixty-one individuals agreed to participate in the study. Two surveys were removed from analysis as the study participants indicated that they utilized telephone counseling only with no video access, and were thus ineligible for inclusion in the analysis. This left 159 survey responses for analysis (98.8%).

Specialty area

Of the 159 survey respondents, a little over half (52%; 89/159) reported providing telegenetic services in cancer genetics and a little less than a quarter stated they provided prenatal telegenetic services. The remainder of respondents provided telegenetic services in a variety of other areas as depicted in Figure 1. It is important to note that study participants were allowed to select only one response for this question.

Figure 1 Specialty Area in which Respondents Provide Telegenetic Services

52.5%

23.4% Proportion Respondents of Proportion

8.2%

4.4% 3.8% 1.9% 1.3% 1.3% 1.3% 0.6% 0.6% 0.7%

Specialty

Years of experience

Participants were asked to report their years of experience practicing genetic counseling and telegenetics separately. For genetic counseling, 48.7% (77/159) of respondents reported 0-5 years of experience, 25.3% (40/159) reported 6-10 years of experience, 10.8% (17/159) reported 11-15 years of experience, and 15.2% (24/159) reported 16 or more years of experience. For the delivery of telegenetic services, 91.8%

(146/159) of respondents reported 0-5 years of experience, 6.3% (10/159) reported 6-10 years of experience, and only 1.9% (3/159) reported 11-15 years of experience.

Employment setting

Nearly one-third (29.1%; 47/159) of respondents reported being employed by a

University Medical Center, 27.2% (43/159) by a private hospital, and 17.7% (28/159) by a contracting organization. Eight percent of participants provided responses not included in the options provided in the survey. Of these, three reported being employed by a government agency and three by private telegenetic companies (Table 1).

Table 1 Genetic Counselor Employment Setting Participants were allowed to select multiple responses Proportion of Genetic Employment setting Counselors (N = 159) Genetic Counselor contracting organization 17.7% (28) University Medical Center 29.1% (47) Private hospital/Medical facility 27.2% (43) Public hospital/Medical facility 21.5% (34) Commercial, non-academic laboratory 5.7% (9) Not-for-Profit organization (Not otherwise specified) 4.4% (8) Self-employed 1.9% (3) Health insurance sponsored center 1.3% (2) Other 8.2% (13)

The majority of respondents (84.8%; 135/159) reported spending 10 hours or less per week utilizing telegenetics. The remainder reported using telegenetic services 10-20 hours per week (8.9%; 14/159) or 21 hours or more per week (6.3%; 10/159) to counsel patients. Most respondents (94.3%; 150/159) reported providing telegenetic services during regular business hours whereas only 2.0% (4/159) reported providing telegenetic 22 services on the weekends and no one reported providing telegenetic services in the evenings.

Number of states in which each genetic counselor provides telegenetics

Sixty percent of respondents (95/159) reported providing telegenetic services in only one state, whereas 12.7% (20/159) reported providing telegenetic services in two states, and only 3.8% (6/159) reported providing telegenetic services in all 50 states.

Approximately four percent (4/159) of participants did not provide a response to this question (Figure 2).

Figure 2 Number of States in which Respondents Provide Telegenetic Services Participants were allowed to select multiple responses 70%

59.5% 60%

50%

40%

30%

Proportion Respondents of Proportion 20% 12.7%

10% 3.2% 4.4% 1.9% 1.3% 0.6% 0.6% 1.3% 0.6% 1.3% 0.6% 0.6% 1.3% 0.6% 0.6% 1.3% 0% 1 2 3 4 6 10 15 20 22 25 33 37 39 42 46 49 50 Number of States

Licensure

Most participants responding to the survey were licensed in all states where they reported providing telegenetic services (59.5%, 95/159) and 26.6% (42/159) indicated providing telegenetic services in states where licensure is not required. A small fraction

(3.2%, 5/159) indicated not holding a license to practice in the states where licensure is required. Two percent of participants (4/159) reported being employed by a government agency which does not require state licensure as long as they provide telegenetic services within their employer system.

Given that 22 states currently require a license to practice genetic counseling, we collected information regarding the number of states where each participant held a valid license. Of note, the majority of genetic counselor respondents reported having a license in only one state (49.4%; 79/159) and only 1.9% (3/159) of respondents reported having a genetic counselor license in 20 states (Figure 3). Twenty-nine percent of those surveyed did not provide a response for this question.

Figure 3 Number of States where Respondents are Licensed

49.4%

20 Proportion Respondents of Proportion

9.5% 10

1.3% 1.9% 1.3% 1.3% 1.9% 0% 0.6% 0.6%0.6% 0.6% 0.6% 0.6% 0% 0% 0% 0.6% 0.6% 0.6% 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Number of States

When asked who covered their licensure fees and expenses, 44% (71/159) stated their employer covered licensure fees and expenses, 1.9% (3/159) reported their employer partially covered their licensure fees and expenses, 23.4% (37/159) reported their employer did not cover their licensure fees and expenses, and 29.7% (47/159) selected “does not apply.”

The Logistics of the Telegenetics Appointment

Software and hardware

The details of the different types of software used for video access are provided in

Figure 4. It is important to note that participants were allowed to select multiple options 25 for this section. The most commonly reported type of software used for video access was

Vidyo (13.9%, 22/159), followed by Skype (12.0%, 20/159), and Cisco WebEx (10.8%,

17/159). Approximately 16.5% of respondents (26/159) did not know the type of software used in their practice.

Figure 4 Software used for Telegenetic Services Participants were allowed to select multiple responses Software Used by Respondents BlueJeans FaceTime 2% 2% Vsee 4%

Other Zoom 25% 6% Polycom 6%

Cisco Jabber 9%

Don't know 14% Cisco WebEx 9%

Vydyo Skype 12% 11%

Of the 159 respondents, a little over half (53%; 85/159) reported using a desktop computer and a little more than a quarter (26%; 41/159) reported using a laptop computer for video access during the telegenetics appointment. Eighty-six percent of respondents

(137/159) reported using the same hardware for audio access as video access. The

26 remainder of respondents utilized a variety of other hardware equipment for video and audio access as depicted in Table 2. In addition, 59% (95/159) of respondents reported using electronic aids shared with the patient through the video screen during the telegenetics appointment. Twenty-three percent (37/159) reported using paper aids provided to the patient during the appointment, 5.1% (8/159) reported sending a pre- recorded video to the patient prior to the appointment, and 21.5% (35/159) reported not using any visual aids to counsel patients during the telegenetics appointment.

Table 2 Equipment Set-Up for Video and Voice Access for the Delivery of Telegenetic Services Participants were allowed to select multiple responses Equipment set-up (N = 159) Video access Genetic Counselor Usage Desktop computer 53.2% (85) iPad 0% (0) Laptop computer 25.9% (41) Polycom 7.6% (12) Smartboard 0.6% (1) Smartphone 0% (0) Tablet 0.6% (1) Do not know 1.3% (2) Other 10.8% (17) Audio access (N = 159) Same as video access 86.1% (137) Telephone 7.6% (12) Do not know 1.3% (2) Other 5.1% (8)

Patient referring provider

Fifty-one percent of respondents (80/159) reported that their patients were referred by private medical providers, 34.8% (55/159) by Public Health Medical Centers, and 22.2% (35/159) by University Medical Centers. Eighteen percent (29/159) of patients were reported to be self-referred (Table 3).

Table 3 Referring Sites for Patients who Receive Telegenetic Services Participants were allowed to select multiple responses Proportion of referrals Type of referring organization (N = 159) Diagnostic laboratory 5.1% (8) Government agency 4.4% (7) Health insurance sponsored center 1.3% (2) Patient self-referred 18.4% (29) Private medical practice 50.6% (80) Public health medical center 34.8% (55) University medical center 22.2% (35) Do not know 5.1% (8) Other Not-for-Profit organization 3.8% (6) Other 10.1% (16)

Appointment scheduling and patient records available to the genetic counselor prior to the appointment

Most respondents (76.6%; 122/159) reported their support staff schedules the telegenetics appointments and 16.5% (26/159) reported their contracting institution schedules the telegenetics appointment. The remainder of respondents reported a variety of other appointment scheduling practices as depicted in Table 4.

Table 4 Telegenetics Appointment Scheduler Participants were allowed to select multiple responses Appointment scheduler (N = 159) Genetic counselor 14.6% (23) Genetic Counselor's attending physician 0.6% (1) Genetic Counselor's support staff 76.6% (122) Genetic Counselor's contracting organization 16.5% (26) Patient’s referring provider 13.9% (22) Do not know 0% (0) Other 7.0% (11)

Indication for referral was the most commonly reported (87.3%; 139/159) information available to the genetic counselor prior to the telegenetics appointment, followed by patient insurance information (78.5%; 125/159), and patient health history

(75.3%; 120/159). The remainder of respondents reported a variety of other information available prior to the appointment (Table 5).

Table 5 Patient Information Available to Respondent Prior to Telegenetics Appointment

Participants were allowed to select multiple responses Patient information available Genetic Counselor to Genetic Counselor (N = 159) Insurance information 78.5% (125) Family history 58.9% (94) Genetic laboratory results 50.6% (84) Health history 75.3% (120) Imaging results 37.3% (59) Pathology results 53.8% (86) Other laboratory results 36.7% (58) Indication for referral 87.3% (139) None are provided 1.9% (3) Other 8.9% (14)

Patient and genetic counselor location, appointment length and individuals present in the appointment

Among the 159 respondents, one third (33.6%; 54/159) reported the patient’s location during the telegenetics appointment as the genetic counselor’s employer’s satellite clinic and 21.5% (34/159) reported the patient’s location during the telegenetics appointment as the patient’s home. Regarding the genetic counselor’s location during the telegenetics appointment, approximately 84% (133/159) of respondents reported that the genetic counselor is located at the work office during the telegenetics appointment. The remainder of respondents reported a variety of other patient and genetic counselor locations during the telegenetics appointment as depicted in Table 6.

Table 6 Patient and Genetic Counselor Location during the Telegenetics Appointment Participants were allowed to select multiple responses Patient location during telegenetics appointment (N = 159) Patient’s home 21.5% (34) Referring provider’s office 31.0% (49) Genetic Counselor employer’s satellite clinic 33.6% (54) Telemedicine site (affiliated, contracted, or partner hospital/medical facility with referring provider) 7.5% (12) Other 6.4% (10) Genetic Counselor location during telegenetics appointment (N = 159) Your home 15.2% (24) Work office 83.5% (133) Other 4.4% (7)

The most common telegenetics appointment length was reported as 41-60 minutes by 48.4% (77/159) of respondents, followed by 21-40 minutes by 35.4% (56/159) of respondents, 1-20 minutes by 7.6% (12/159) of respondents, and 61-80 minutes by 7.6%

(12/159) of respondents. Only one participant reported an appointment length greater than 81 minutes. Of the 77 respondents who reported appointment length of 41-60 minutes, 61.0% (47/77) reported practicing in cancer genetics while 14.3% (11/77) reported practicing in prenatal genetics. Of the respondents who reported appointment length of 61-80 minutes, 75.0% (9/12) reported practicing in the cancer specialty (Table

7).

Table 7 Correlation of Specialty with Appointment Length

Telegenetics appointment length Overall Specialty (n/159) 1-20 Min 21-40 Min 41-60 Min 61-80 Min Cancer genetics 52.5% (83) 16.7% (2) 42.9% (24) 61.0% (47) 75.0% (9) Cardiology 1.9% (3) 0% (0) 3.6% (2) 1.3% (1) 0% (0) General genetics 4.4% (7) 0% (0) 0% (0) 7.8% (6) 8.3% (1) Genomic medicine 1.3% (2) 0% (0) 0% (0) 2.6% (2) 0% (0) Infertility 1.3% (2) 8.3% (1) 1.8% (1) 0% (0) 0% (0) Laboratory 1.3% (2) 0% (0) 1.8% (1) 1.3% (1) 0% (0) Neurology 0.6% (1) 0% (0) 0% (0) 0% (0) 8.3% (1) Pediatrics 8.2% (13) 0% (0) 5.4% (3) 11.7% (9) 8.3% (1) Prenatal 23.4% (37) 25% (3) 41.1% (23) 14.3% (11) 0% (0) Other 4.4% (7) 50% (6) 1.8% (1) 0% (0) 0% (0) TOTAL 100% 100% (12) 100% (56) 100% (77) 100% (12)

Table 8 shows that a small proportion of patients and genetic counselors reportedly completed the telegenetics appointment with additional people present in the room; however, most respondents (75.3%; 120/159) reported that the patient was unaccompanied during the appointment and most respondents (89.2%; 142/159) reported that the genetic counselor practiced alone during the telegenetics appointment.

Table 8 Individuals Present During the Telegenetics Appointment Participants were allowed to select multiple responses Additional presence during telegenetics appointment (N = 159) In room with Individual present In room with patient Genetic Counselor Geneticist 0.6% (1) 7.6% (12) Medical assistant 7.6% (12) 1.3% (2) Nurse 19.0% (30) 0% (0) Physician 3.1% (5) 1.3% (2) Patient only 75.3% (120) - Social worker 0% (0) 0% (0) No one 2.5% (4) 89.2% (142) Other 10.8% (17) 1.9% (3)

Genetic testing and result disclosure

As illustrated in Table 9, if genetic testing is ordered during the telegenetics appointment, 63.9% (102/159) of respondents reported the genetic counselor's support staff placed the order while the genetic counselor’s attending physician and the patient’s referring provider were reported to place the order for the genetic test by 28.5% (45/159) and 22.8% (36/159) of respondents, respectively. Seventy-five percent of survey respondents indicated that sample collection takes place at the same facility where the patient is during the telegenetics appointment and 23.4% (37/159) of participants reported mailing a test kit to the patient’s home. Once test results are available, the majority of respondents (85.4%, 136/159) reported that the genetic counselor delivers the result to the patient by telephone or in a second telegenetics appointment (25.3%, 40/159). Other sample collection and result disclosure practices are depicted in Table 9.

Table 9 Genetic Testing Practices for Telegenetics Participants were allowed to select multiple responses GC – Genetic Counselor Genetic testing Who orders test (N= 159) GC/GC support staff 63.9% (102) GC attending physician 28.5% (45) GC contracting organization 4.4% (7) Patient’s referring provider 22.8% (36) Genetic test is not ordered 1.3% (2) Other 6.3% (10) Who collects sample (N= 159) Facility where patient is during the appointment 74.7% (118) A test kit is mailed to patient’s home 23.4% (37) Testing recommendation is given to the referring provider 10.8% (17) Patient is sent to an outside facility 9.5% (15) Genetic test is not ordered 3.8% (6) Lab sends phlebotomist to patient’s home 1.3% (2) Other 3.8% (6) Who delivers results to patient (N= 159) Results are disclosed by the genetic counselor via telephone 85.4% (136) Results are disclosed in a second telegenetics appointment 25.3% (40) Results are disclosed by the referring provider 10.1% (16) Results are mailed or emailed to the patient 7.0% (11) Results are posted on a patient portal 1.9% (3) Other 2.5% (4)

Of those respondents who reported that the patient is at home during the telegenetics appointment, nearly one half (45.2%; 19/42) reported mailing a test kit to the patient’s home. Of the respondents who reported mailing a test kit to the patient’s home, over half (54.1%; 20/37) also reported practicing in the cancer specialty, with the remainder providing telegenetic services in other specialties (Table 10).

Table 10 Specialties Mailing Test Kits to Patient’s Home for Sample Collection

Mail test kit to patient’s home

Specialty Overall (n/159) Yes No Cancer genetics 52.5% (83) 54.1% (20) 52.1% (63) Cardiology 1.9% (3) 5.4% (2) 0.8% (1) General genetics 4.4% (7) 8.1% (3) 3.3% (4) Genomic medicine 1.3% (2) 2.7% (1) 0.8% (1) Infertility 1.3% (2) 0% (0) 1.7% (2) Laboratory 1.3% (2) 2.7% (1) 0.8% (1) Neurology 0.6% (1) 0% (0) 0.8% (1) Pediatrics 8.2% (13) 8.1% (3) 8.3% (10) Prenatal 23.4% (37) 10.8% (4) 27.3% (33) Other 4.4% (7) 8.1% (3) 3.3% (4) TOTAL (157) 100% (37) 100% (120)

Billing

Participants were asked to provide data on who is billed, who generates the bill, and which billing methods are used for telegenetics (Table 11). Among the 159 respondents, 38.6% (61/159) reported billing a 3rd party payer/HMO, 30.2% (48/159) reported billing Medicare/Medicaid, 21.5% (34/159) reported billing their contracting institution, and 26.6% (42/159) reported billing the patient. Forty-nine percent (79/159) of participants reported that the bill is generated by them or their employer and 38%

(60/159) reported that no bill is generated for telegenetic services. Of those who reported billing, 21.5% (34/159) indicated using CPT code 96040, 7% (11/159) reported billing a flat fee, and 12% (19/159) reported not knowing which billing method is used. Among the respondents who bill using the CPT code 96040, forty-seven percent (16/34) practice

35 in cancer genetics and thirty-eight percent (13/34) practice in prenatal genetics, with the remainder practicing in other specialties (Table 12).

Table 11 Billing Practices Participants were allowed to select multiple responses Billing Who is billed (N = 159) 3rd party payer/HMO 38.6% (61) Medicare/Medicaid 30.2% (48) Other government funded healthcare 18.4% (29) Patient self-pay 26.6% (42) A grant 7.6% (12) No charge 19.6% (31) Contracting institution 21.5% (34) Do not know 8.2% (12) Other 8.9% (14) Who generates the bill (N = 159) Genetic Counselor/Employer 49.4% (79) Referring provider 5.1% (8) No bill is generated 38.0% (60) Other 7.6% (12) Which billing method is used when billing (N = 159) CPT code 96040 (medical genetics and genetic counseling) 21.5% (34) CPT codes 99201-99215 (office/outpatient visit) 5.7% (9) CPT codes 99241-99245 (consultation visit) 3.2% (5) CPT codes 99401-99429 (preventive medicine) 0% (0) HCPS code S0265 1.3% (2) Evaluation and management (E&M) codes 0% (0) Facility fee 2.5% (4) Flat fee 7.0% (11) 96040 with modifier code for telemedicine 1.3% (2) No bill is generated 0.6% (1) Do not know 12.0% (19) Other 5.1% (8) No response 50.6% (80)

Table 12 Billing Using CPT Code 96040 by Specialty

Billing using CPT code 96040

Specialty Overall (n/159) Yes No Cancer genetics 52.5 % (83) 47.1 % (16) 54.0 % (67) Cardiology 1.9 % (3) 5.9 % (2) 0.8 % (1) General genetics 4.4 % (7) 2.9 % (1) 4.8 % (6) Genomic medicine 1.3 % (2) 0 % (0) 1.6 % (2) Infertility 1.3 % (2) 0 % (0) 1.6 % (2) Laboratory 1.3 % (2) 0 % (0) 1.6 % (2) Neurology 0.6 % (1) 0 % (0) 0.8 % (1) Pediatrics 8.2 % (13) 5.9 % (2) 8.9 % (11) Prenatal 23.4 % (37) 38.2 % (13) 19.4 % (24) Other 4.4 % (7) 0 % (0) 5.6 % (7) TOTAL 100% (34) 100% (124)

Barriers and limitations of telegenetics

Respondents ranked what they believed to be the three primary barriers/limitations to the delivery of telegenetic services with 1 being the biggest barrier,

2 the second biggest barrier and 3 the third biggest barrier. Among respondents, billing was selected as the biggest barrier to the delivery of telegenetic services, scheduling was selected as the second biggest barrier, and accessing patient information was selected as the third biggest barrier (Table 13). Combined, the top three reported barriers overall to the delivery of telegenetic services were videoconference and voice platform/software technology, billing, and sample collection. Only 16% (25/159) of respondents reported licensure as a barrier to the delivery of telegenetic services.

Table 13 Barriers and Limitations of Telegenetics Participants were asked to rank the top three limitations/barriers in the telegenetic counseling delivery model with 1 being the most limiting and 3 being the least limiting Telegenetic counseling delivery model Number of genetic counselors Ranking by most limiting (N = 159) Limitation/barrier 1st 2nd 3rd Combined Accessing patient information 9 15 18 42 (26.4%) Billing 36 15 11 62 (39.0%) Genetic test result disclosure to patient 0 0 3 3 (1.9%) Sample collection 16 14 17 47 (29.6%) Scheduling 12 24 14 50 (31.4%) Setting a location for the patient 4 11 14 29 (18.2) Setting a location for you 1 1 3 5 (3.1%) Translation services 6 14 12 32 (20.1%) Visual aids 11 8 17 36 (22.6%) Videoconference hardware 7 14 5 26 (16.4%) Videoconference and voice platform/software/technology 31 22 15 68 (42.8%) Voice hardware 0 2 2 4 (2.5%) Licensure 10 10 7 27 (17.0%) None 5 2 10 17 (10.7%) Other - - - 25 (15.7%)

Additional resources and recommendations for improvement

Participants were invited to share comments on what they find useful during the telegenetics appointment and recommendations to improve the service delivery model.

The “Useful Resources” comments were grouped thematically in the following topic areas: “Support” (n=17), “Visualization” (n=13) and “Other” (n=9). Table 14 contains the list of useful tools provided by the participants. The comments about

“Recommendations for Improvement” seen in Table 15 were grouped thematically in the following topic areas: “Technology related” (n=27), “Billing” (n=22), “Licensure” (n=7),

“Staff support” (n=4), “Sample collection” (n=3), “Visual aids” (n=3), “Education”

(n=8), and “Other” (n=11). Table 15 contains the list of recommendation comments by the participants.

Table 14 Useful Resources

Useful resources during telegenetics appointment as perceived by genetic counselor

Support n=17 Nurse present on the other end of the video to help with visual aids and sample collection The staff at the remote site are incredibly important resources Nurse navigator on the patient end; wouldn't be possible without her/him Secretarial support Cooperative and effective remote site coordinator/staff to facilitate session and lab draws MA or office staff at the remote location available to assist the patient before/after their visit Support staff on other end to room patient Really helpful to have a nurse navigators at patient's site to coordinate appointment, answer patient questions and be a contact person for the patient at their site Support staff Telehealth clinical technicians on the patient side (employed by each VA facility, often have other tech or nurse duties) to seat them, initiate the call, and provide technical support MA and IT person that helps if something goes wrong with the technology Real time tech support for when the video conferences doesn't go right Good relationship with the medical team where the patient is located. Good relationship with our IT department Office staff on-site with the patient in case of technological or sample collection irregularities Very helpful and invested staff on the patient end. They are so great!! Nurse navigator present with the patient in person Staff on site to help with patient check in, filling out forms, and troubleshooting tech problems

Visualization n=13 I would like to incorporate visual aids into the teleconferencing better 39

Visual aids We use on-line pedigree software, so it has been useful to be able to share my screen and show the patient their pedigree I tend to use a lot of visual aids, getting these to the patient is very helpful for me but requires more work on support staff Videoconferencing and electronic visual aids provide virtually same experience as in- person I love that I have a tablet feature on my laptop that allows me to draw on the person's screen Sending visual aids/information to the patient/other clinic ahead of time Showing patient the pedigree again at the time of results disclosure Sending handouts prior to the appointment. Powerpoint loaded like a flip chart to give consistent education PowerPoint slides The availability of slides to be able to pull up information for the patient Websites where I can refer patient to review concepts, since my drawing them and holding up to the camera is really subpar Sending visual aids packet to patient prior to appointment

Other n=9 Cancer risk assessment models. Same things I use face-to-face Pre-consent to discuss partner's carrier test results Ability to IM telehealth tech/staff where the patient is Phone interpreters, electronic patient resources Networked printer to provide resources to patient at their location before they leave clinic CancerGene Connect has been invaluable for obtaining medical/family history prior to appointment and for communication between our site and contracting site Setting the expectation PRIOR to the appointment that the patient will be seen virtually (and not with an in-person GC) I'm able to access my computer during the session to pull the patient's chart, input risk calculation models in real time, and look up organization's recommendations on a specific topic Significant space to be able to access multiple remote sites during a time frame

Table 15 Improvement Recommendations

Improvement recommendations to telegenetics delivery model by genetic counselor

Technology related n=27 Online health history tool that creates a pedigree within the EMR Delivery with web cams on each end would allow for better seeing/interpreting facial expressions and interpreting each other during the session than video camera that have each person sitting at a distance such as the Polycom Our hospital system started this internally so genetic counselors could provide support to our MFM offices that didn't have an in-house genetic counselor (trouble hiring in remote areas within the state). They needed to do a better job providing the tech support and explaining billing to patients. I answered all questions about my telegenetics position although I no longer work there (for unrelated reasons) Software technology More universal software Better technology, less delay, clearer images, better sound, more comfort from patients with technology HIPAA-compliance (more clearly define and make accessible the options), increased technology options with less breaks in video feed and other tech complications Better patient accessibility via equipment/infrastructure More availability for videoconferencing and hardware for physical exams Better software for delivery More universal software Better technology (reliable video that doesn't freeze, confidence that I am heard an audio) It is often difficult to make eye contact and assess nonverbal cues from the patient. If you are looking directly at the patient from their viewpoint, you almost have to look directly into the camera lens. When doing this, you can't see the patient very well. Platform-specific Better video and sound, larger screens More streamlined software/platforms for voice and or video We need improved camera quality for our exams or to strictly see on counseling visits which do not require exam. Three-way video call with interpretative services would be great. Also, sometimes the software does not allow my visual aids to be seen Sometimes the computer programs can have glitches, so the video or audio cuts out Audio - patient should have microphone, can be hard to hear especially when children are in the room Electronic consenting Technology glitches (FaceTime, etc.) Technology improvements Better software/hardware to enable onscreen drawing, or split screen with visual aids, and more locations where rural patients can access the services (many still have to drive 2-3 hours to get to a facility that offers these appointments) Better technology. We have a delay with what we use right now 41

Using adequate video and audio systems Improvement in technical glitches Most problems still stem from software/skype/iPads failing to work at the appropriate time

Billing n=22 We need CMS billing. We need clear billing for telegenetics Ability to bill! Make this billable!! And available from the patient's home (rather than from the medical center only). The two are definitely tied. The EMR has been a challenge as well - scheduling patient in the department where they are seen (rather than where I am) has been an issue - not showing up on my schedule, requiring patient to go to center (rather than visit from home) Able to make GC via telehealth billable. Right now we just have the external referral group pay a flat fee per session Ability to bill for genetic counseling services The ability to get reimbursement from 3rd party payers will be a big factor in being able to make telegenetics more widespread Better reimbursement and policies Billing provisions Clear guidelines on how to bill Same as with any other counseling model or environment- GC's need to be able to bill for our services Ability to include 3rd party telephone interpreter and reimbursement of billing Sometimes I get a delay, it's annoying. So better technology. Easier ways to get visual aids on there, maybe a way to draw so patient can see it at same time I am drawing. Also, billing. It's not always reimbursed Definitely billing and sample collection logistics Establishing a billing mechanism that is feasible! Ability to bill insurance will expand opportunities to extend services BILLING! My institution cannot figure out how to bill for the telegenetics GC consult when we bill 96040 for face to face. I hate that it is free Billing Ability for genetic counselors to bill by themselves It is an excellent model. The one difficulty is if you have to adjust the way you bill, order tests, disclose information, or record results for each site you are referred from. Uniformity can really streamline the experience. Greater understanding about billing and reimbursement; streamlined process for licensure in multiple states Ability to bill, more training in using visual aids with certain technologies

Improvements in billing/reimbursement

Licensure n=7 Federal licensure, clarity and ease of HIPAA regulations in telehealth Requiring licensure in every state is a huge barrier to independent providers A work-around for genetic counseling licensure Improved video-conferencing software, universal licensure for telegenetic counselors Streamlining the licensure process for GCs and MDs nationwide Besides licensure/billing issues, making sure both locations (where the GC and patient are) are both quiet spaces without distraction and appropriate lighting Licensing has been the biggest barrier in my opinion

Staff Support n=4 I perform telegenetics within our own system that has 50+ sites across rural central Wisconsin. These places often only have one room with telehealth services so they can book up quickly and patients have to be scheduled far out. Having more rooms set up for all "telehealth" would be beneficial for our institution Patient side needs enough flexibility in scheduling and in arranging day-of test ordering/blood draws, which largely depends on where the funding for staff and testing comes from- patient side or provider side? Are the agreements in place adequate? Easier scheduling, notification, and communication with contacts/staff at the other site. Access to EMRs with contracted sites Have the same person (MA or RN) helping on the patient's end

Sample collection n=3 Availability of test kits and point-person at institution/location on patient side Sample collection streamlining would be the biggest IMO Not relevant to me at the VA but I think licensure and reimbursement issues need to be resolved for higher uptake. For my workplace, a smoother test ordering/sample draw process

Visual aids n=3 Ability to use visual aids Easier delivery of visual aids for patient to view during appointment Screen-share to provide visuals

Education n=8 People stop thinking it is unique. It really isn't that different from being face-to-face Improved learning curve for support staff to schedule and explain process to patients

Increasing education/awareness to referring institutions along with supporting infrastructure (e.g. tech support) Clear expectations from the appointment. This is still a provider appointment therefore they need to pay attention Setting expectations; program/platform user-friendliness; acceptance of this type of model Telegenetics becoming more mainstream so that patients are not surprised/upset by the setup Proper education to the patient during scheduling about the nature of the appointment Videos/tools that the patient could look at prior to the appointment so they come in with a baseline understanding. This would be particularly helpful, as connection problems have been a big issue for me and the more they come in with the better

Other n=11 I think it can be done very well with limited equipment and cost with high patient satisfaction None Working great; no improvements I find having to work harder to have a conversation with the patient, rather than talking to them More offices, so patients don't have to commute so far We are working towards the ability to do in-home telegenetic counseling on patient's devices. Electronic consent capabilities would be helpful Better access to necessary patient records from referring providers More parity laws to allow for this service model in more states, and flexibility in terms of where the patient is located at time of service delivery (i.e. allow for home visits) Our genetic counseling is usually tied to the same visit as a sonogram and has limited time allotted. Increased time or recognition for a different encounter type would be helpful Have been using this model for a long time; it is second nature to me at this point Standardization/practice guidelines

Chapter 4. Discussion

The effectiveness of telegenetics has been well studied mostly in the context of cancer genetic counseling in both urban and rural areas (Buchanan et al. 2015; Buchanan et al. 2016; Coelho et at. 2005; Gray et al. 2000; Meropol et al. 2011; Vrecar et al. 2016).

Our study supports previous research showing the use of telegenetic services in cancer, general genetics, prenatal, and pediatrics (Cohen et al. 2013). In addition, this study describes the use of telegenetic services in other specialty areas such as preconception, cardiology, genomic medicine, infertility, neurology and adult genetics. Interestingly, the majority of respondents still report providing telegenetic services in cancer and prenatal.

This is likely due to the nature of the appointment where a physical examination is not typically required allowing for autonomous practice by a genetic counselor. This data is also consistent with the 2016 PSS which reported that of the 106 survey participants who counseled patients via video/web-link, 46% counseled patients in cancer and 49% in prenatal. Although it cannot be determined if our data reflects an increase of telegenetic services, it does suggest a shift of the use of telegenetic services to a wider range of specialties.

This data suggests that the majority of telegenetic counseling services are provided by genetic counselors with fewer years of experience. Specifically, the data revealed that 50% of the participants who provide telegenetic services had 0-5 years of experience in genetic counseling compared to only 15% in previous studies (Cohen et al.

2013). These findings correlate with the 2016 NSGC PSS reporting that 40% of genetic counselors responding to the survey graduated from an accredited training program from 45

2010 through 2015. Furthermore, one might postulate that these findings correlate with the higher degree of comfort with the technology involved in telegenetics by recent graduates, as they may have been exposed to the telegenetic service delivery model during graduate training.

The findings from this study also support previous research which showed that most genetic counselors who provide telegenetic services are employed by University

Medical Centers and Private and Public Hospitals (Cohen et al. 2013). Only 2.5% of the genetic counselors responding to this survey indicated utilizing telegenetics on the weekends and none in the evenings, which is consistent with the majority of genetic counselors practicing telegenetics from University Medical Centers that are unlikely to have evening and weekend hours. If genetic counselors were to offer telegenetics services during evening and weekend hours, this could potentially increase access for patients to receive genetic services. However, this may necessitate that the patient receive services in their home, as opposed to a medical facility, and so the patient may lack access to the technology necessary to complete a telegenetics appointment.

Licensure

The majority of the survey respondents provide telegenetic services in only one state. Additionally, the data revealed that fifty percent of the respondents are licensed in only one state while the remainder practice in states where licensure is not required.

Three percent of the participants reported not holding a valid license to practice in the states where licensure is required. Further investigation to elucidate the reason and exact

46 proportion of genetic counselors who practice telegenetics without a license in states where a license to practice is required is warranted.

Although licensure has previously been reported as a barrier in providing outreach services via telegenetics (Schaefer et al. 2010), our survey respondents did not indicate that licensure is a substantial barrier to providing telegenetic services; however, over fifty percent of respondents provide telegenetic services in only one state. Therefore, they may not have the need to acquire multi-state licensure. This may have more of an impact on genetic counselors whose practice locations are near the border of two or more states, such that their patient populations may be in those border states. Licensure requirements might also have a larger impact on genetic counselors who work for telegenetics companies or as independent contractors where the geographic scope of their patient population could be broader, potentially encompassing all 50 states; however, only 4.4% of the participants in this study reported providing telegenetic services in all 50 states.

Additionally, 35% of the participants reported that their employer does not cover licensure fees and expenses. One might surmise that although licensure was not reported in this study as a great barrier, the lack of employer coverage for genetic counselor licenses may still limit some genetic counselors from providing telegenetic services to patients in other states or the genetic counselors wanting to expand their services. If telegenetics becomes more widely used by genetic counselors, licensure may then prove to be a substantial limitation to providing these services, particularly if employers are not reimbursing for the cost of obtaining the practice license.

The Logistics of the Telegenetics Appointment

Part of this study aimed to characterize the different components of the telegenetics appointment with hopes to find trends among the participants’ responses.

Although the results showed that Vidyo, Skype, and Cisco WebEx are the most common types of software used to provide telegenetic services, there was not one predominant software type selected by the respondents, indicating that a variety of software types are still being utilized to provide telegenetic services. In addition, our participants reported that software malfunction is a significant barrier to the delivery of telegenetic services, and these difficulties were reported across a wide range of software platforms. These findings support previous research which found that 15% of telegenetics consults were interrupted by technical difficulties preventing some sessions to be completed (Buchanan et al. 2015). It is also important to note that some areas of the country lack access to internet speeds fast enough to support high-quality voice and video exchange (U.S.

Department of Health and Human Services 2016); thus, all or some of reported software issues in this study may be due to internet connectivity quality and not the software platforms specifically.

To our knowledge, this study is the first to describe who typically schedules the telegenetics appointment for the patient. This study showed that the majority of genetic counselors rely on their support staff with a smaller proportion relying on their contracting institution for scheduling. The proportion of genetic counselors that rely on their contracting institution is similar to that of the genetic counselors who are employed by a contracting institution, suggesting that the contracting institutions are responsible for

48 scheduling their patients for the telegenetics appointment. Based on the two scheduling systems in place mentioned above, it appears that there are well-established scheduling systems between the genetic counselor or the genetic counselor’s employer and the referring provider; however, this study did not evaluate the effectiveness of any reported scheduling systems. In addition, this study revealed that scheduling is a significant perceived limitation/barrier of telegenetics. Although thematic analysis was not performed on the comments provided by the participants for this question, some comments by the respondents support that scheduling is a significant barrier of telegenetics. One respondent expressed that “Patient side needs enough flexibility in scheduling,” and another respondent recommended “Easier scheduling, notification, and communication with contracts and staff at the other site.” These findings may indicate that although a system for scheduling the telegenetics appointments is in place, the system is not efficient.

The results from this study suggest that telegenetics may increase access to genetic counseling by reducing the appointment length and increasing the number of appointments available for genetic counseling via telegenetics. The most common telegenetics appointment length in this study was reported as 41-60 minutes by 49% of respondents. These results are relatively consistent with prior research which found that

72% of genetic counselors who provide face-to-face genetic counseling spend 31-60 minutes with each patient (Cohen et al. 2013). However, this study found that only 8% of respondents spend 61-100 minutes with each patient providing telegenetic counseling services compared to the 20% of participants in Cohen’s study who spend 61-90 minutes

49 face-to-face with each patient. Additionally, this study also found that 35% of respondents spend 21-40 minutes with each patient compared to 6% in Cohen’s study who reported spending less than 30 minutes face-to-face with each patient (Cohen et al.

2013). Based on these findings, there appears to be a shift in the time spent with each patient to shorter appointments when compared to the traditional face-to-face model. It is important to note that factors affecting appointment length were not evaluated in this study. One potential reason for the decrease in reported appointment length could be explained by this study’s design in which there was no differentiation between new and returning patient appointments; therefore, the shorted reported appointment lengths could be attributed to result disclosure or follow-up appointments only. Other potential explanations for the shorter appointment lengths could include: whether a patient is instructed to watch a video on the core counseling concepts in advance, and whether medical and family history are available to the genetic counselor in advance to the appointment to allow for case preparation.

Interestingly, 7% of 61-80 minute-long appointments were reported in the cancer specialty. This may be explained by the presence and inclusion of additional family members who present to discuss cascade genetic testing or the need for additional psychosocial counseling in a patient newly diagnosed with cancer and seeking genetic testing for surgical decision-making. Additionally, if the genetic counselor does not receive the patient’s pathology report, family history and patient health history prior to the appointment, it may require pedigree analysis and risk calculations during the appointment leading to a longer appointment time.

Based on the findings of this study, it appears common practice for both the patient and the genetic counselor to be alone in their respective rooms during the telegenetics appointment. However, a small proportion of study respondents reported other individuals present in the appointment including a nurse, a medical assistant and a geneticist. Of the genetic counselors who conduct the telegenetics appointment in the presence of a geneticist, 50% provide telegenetic services in the pediatrics specialty and

25% in general genetics. These findings may be due to the nature of the appointments in these two specialties which typically require a physical examination or diagnostic work- up of the patient by a physician.

Although sample collection during the telegenetics appointment has previously been reported as a barrier or limitation to the delivery of telegenetics, this study is the first to report some of the logistics of sample collection. (Cohen et al. 2016; Schaefer et al. 2010). Based on the findings of this study, the majority of patients attend the telegenetics appointment and undergo sample collection at the same location.

Additionally, nearly half of the genetic counselors who provide telegenetic services to patients who stay home during the appointment mail a test kit for sample collection to the patient’s home. Of the genetic counselors who mail a test kit to the patient’s home, 54% provide telegenetic services in cancer genetics while only 11% practice in the prenatal setting. Given that 23% of genetic counselors were found to provide telegenetic services in the prenatal setting, one might expect a similar proportion of those who mail test kits to the patient’s home to practice in prenatal genetics; however, it is important to consider that the difference in proportion is likely due to the limitations imposed by the sample

51 type collected for prenatal genetic studies, such as amniocentesis and chorionic villi sampling versus a blood or saliva sample. Additionally, sample collection was not ranked as a substantial barrier to the delivery of telegenetic services by our participants. The methods mentioned above may suggest the presence of an effective sample collection system between the referring provider and the genetic counselor providing the telegenetic services.

Billing

In addition to sample collection, scheduling and licensure, the ability to bill has proven to be a tremendous limitation in providing telegenetics (Bradburry et al. 2016;

Buchanan et al. 2016; Lea et al. 2005; Meropol et al. 2011). While thematic analysis was not performed on the comments provided by the study participants in this question, several comments support that billing is the biggest limitation in providing telegenetic services. Four respondents stated that they wanted the “Ability to bill,” while others provided comments including “We need CMS billing,” “Make this billable,” Establish a billing mechanism,” and “Greater understanding about billing and reimbursement.”

Additionally, this study confirmed previous findings, as billing was selected as the primary limitation/barrier of telegenetics by nearly one quarter of respondents.

Thirty-eight percent of genetic counselors surveyed in this study do not bill for telegenetic services. Of the genetic counselors who indicated billing for telegenetic services, 21.5% use CPT code 96040, compared to only 8.2% previously reported (Cohen et al. 2013). This is also consistent with previous findings which reported that 8% of genetic counselors use other CPT codes when billing for telegenetic services (Cohen et

52 al. 2013). Additionally, the results of this study show that 47% of those billing for telegenetic services using CPT code 96040 practice in the cancer specialty, and 38% practice in the prenatal specialty. Cancer and prenatal specialties appear to have better established billing guidelines that allow genetic counselors to bill for their services. The

Patient Protection and Affordable Care Act requires health insurance plans to cover genetic counseling for those individuals whose family history suggests an increased risk of mutations in BRCA1/2 genes (CMS 2011). Additionally, some states cover genetic counseling services under Medicaid for women with high risk pregnancies or for those that have a positive result in genetic screens (Gifford 2017). Therefore, it was not a surprise to discover that the participants who bill using CPT code 96040, practice mainly in the cancer and prenatal specialties. Furthermore, although the results of this study suggest an increase in genetic counselors who bill for telegenetic services, billing continues to present the biggest barrier to the delivery of telegenetic services as perceived by the genetic counselor. This may be substantiated by the results of this study which indicate a widespread range of billing practices among genetic counselors instead of streamlined billing procedures. As such, specific billing practices warrant further investigation.

Useful Resources and Improvement Recommendations

While billing, scheduling, and software were most frequently selected by our respondents as the top barriers to the delivery of telegenetic services, comments provided in the survey suggest useful tools to help address these limitations. One respondent noted that in their practice, support from staff for scheduling and patient navigation is key for a

53 successful appointment. It was also noted in the comments provided that real time tech support when software issues arise is important in maintaining an uninterrupted connection between the provider and the patient. Based on the comments respondents reported useful tools in their practice, hiring and training support staff to assist with scheduling, patient navigation and other aspects of the telegenetics appointment may help eliminate this perceived barrier. Additionally, establishing real-time tech support from the employing institution or software provider may be helpful at reducing technical barriers, although it might require increased financial support.

In addition to useful resources, the study respondents provided improvement recommendations for the delivery of telegenetic services, which reinforce the well-known barriers and limitations reported in this study and previous studies, such as: technical difficulties associated with the software, uncertain billing practices, sample collection logistics, scheduling, and licensure. Some study respondents recommended streamlining the software and hardware for voice and video access. Designing and maintaining only one or two types of software and equipment set-up for telegenetics may lead to greater scrutiny which may ultimately lead to greater quality of these components. Other study participants recommended better reimbursement and billing policies and the ability of genetic counselors to bill for telegenetic services. Many of the survey respondents reported not billing for telegenetic services. Lack of billing practices might limit their ability to expand their services. Having an effective and a clearer understanding of billing practices and reimbursement rates may enable those currently providing telegenetic services to expand their practice, or for new sites to initiate telegenetic services.

Furthermore, it may allow genetic counselors to select the most appropriate billing method to benefit the patient and all institutions involved. Lastly, federal licensure for all genetic counselors would remove the licensure barrier. Although this recommendation seems trivial, the process and ramifications of this change were not explored in this study and thus deserves further investigation.

Chapter 5. Limitations and Future Directions

Given that this study recruited only those genetic counselors who were current members of the NSGC, who opted in for notifications at the time of the study, and opted to respond to the survey, this study may have missed a proportion of genetic counselors who are providing telegenetic services that are not members of NSGC or who did not opt to participate in this study. As such, this study may not be a representative population.

Further, as this is a North America based study, this information may be missing other modalities used by international genetic counseling providers; therefore, additional studies describing telegenetic practices outside of North America could fill this gap in knowledge. Data may also not accurately reflect current trends, as genetic counselors who had provided telegenetic services in the past, but were not doing so currently, were included in the analysis. Additionally, those genetic counselors working for private telegenetics companies may not have participated in this study because their company’s data is proprietary. Since this study was not piloted, it is possible that the survey questions were not optimally phrased in a way to avoid ambiguity and maximize clarity of the question’s objective.

Given that this survey combined Medicare and Medicaid as a single entity, the data does not accurately reflect current Medicare and Medicaid billing practices. As such, data reporting the proportion of genetic counselors billing Medicaid/Medicare may only represent Medicaid billing practices since genetic counselors are not recognized by

Medicare as eligible billing providers. Therefore, recommendations for future studies include evaluating the details of billing and reimbursement for telegenetic counseling 56 services. Another area that deserves further research is the evaluation of the performance of different software types to identify the best software platforms that meet all the needs of a genetic counseling appointment. Additional recommendations for future studies include identifying and describing those genetic counseling graduate programs who include telegenetics in their training.

Based on the findings of this study and previous reports, standardization and the incorporation of universal practice guidelines for the delivery of telegenetic services can lead to improvement of the delivery model and higher patient and provider satisfaction. It is hoped that the results of this study provide the groundwork to support and encourage the continued efforts to improve the logistics of the delivery of telegenetic services though future research; specifically looking at software quality, billing and reimbursement policies, and scheduling the telegenetics appointments.

Chapter 6. Conclusion

This study explored the various components of the telegenetics delivery model as well as the benefits and limitations of the telegenetic service delivery model as perceived by the genetic counselor. The results describe the current practices of the telegenetic service delivery model pertaining to software and hardware usage, billing, licensure, scheduling, and sample collection for genetic testing.

This study showed that the use of telegenetic services are expanding beyond the cancer and prenatal genetic settings to other specialties including preconception, cardiology and genomic medicine. Additionally, the respondents did not identify licensure as a significant barrier to providing telegenetic services; however, one half of the respondents also reported providing telegenetic services in only one state. This may have a larger impact on genetic counselors employed by telegenetics companies or as independent contractors which, based on this study, is a relatively small proportion of those who provide telegenetic counseling services.

The results showed that the majority of genetic counselors rely on their support staff to schedule the appointment; however, they also reported scheduling as a significant barrier, which may indicate that although a system for scheduling the telegenetics appointments is in place, the system is not efficient. As such, hiring and training support staff to assist with scheduling, patient navigation and other aspects of the telegenetics

58 appointment may address this perceived barrier. Additionally, the majority of patients attend the telegenetics appointment and undergo sample collection at the same location, suggesting the presence of an effective sample collection system between the referring provider and the genetic counselor providing the telegenetic services.

Although this study found an increase in genetic counselors who bill for telegenetic services compared to previous studies, billing continues to present the biggest barrier to the delivery of telegenetic services as perceived by the genetic counselor. It may stand to reason, based on the current billing practices in the cancer and prenatal specialties, that billing provisions will continue to improve across all specialties.

A potential difference was also identified in appointment length between the traditional in-person counseling model and the telegenetics model. Indicating that telegenetics may increase access to genetic counseling by reducing the appointment length and increasing the number of appointments available for genetic counseling via telegenetics. Further research is warranted to evaluate factors that impact appointment length. These future studies could determine whether and how the use of telegenetics reduces the total time a genetic counselor spends per appointment, and whether it leads to an increase in the total number of patients a genetics professional can see, as compared to in-person genetic counseling appointments.

It is hoped that these study findings will provide groundwork for the development of telegenetic practice guidelines and the improvement of the service delivery logistics.

In addition, it may aid the incorporation of genetic service delivery into to the practice of other genetic professionals.

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Appendix A. Survey Invitation

Dear NSGC member,

You are invited to participate in an Ohio State University genetic counseling student research study exploring the logistics of the telegenetic counseling appointment. Telegenetics is genetic counseling provided remotely via videoconference or web-link, including visual and audio access. It does NOT include telephone only appointments.

The goal of this study is to describe and assess the varying components of technology utilized in telegenetic counseling including how video conference and audio access are set up for the patient and the genetic counselor. Also, to describe and assess the varying logistics involved in telegenetic counseling including licensure, billing, scheduling, sample collection and documentation. And lastly, to describe the perceived challenges and benefits of telegenetic counseling.

The study is intended for any genetic counselor that has in the past, or is currently utilizing telegenetics to counsel patients. If you have in the past or currently offer telegenetic counseling to patients regularly or occasionally, through your main employer, secondary employer or independently, please consider taking this survey.

Your participation will require approximately 20-30 minutes and is completed online at your own computer. There is no known risk associated with this study. Taking part in this study is completely voluntary and you can withdraw at any time. The first 30 participants to complete the survey will receive a $15 Amazon gift card. The e-mail address you provide for the delivery of the incentive will not be tied to your responses and will not be used for any future contact. Your e-mail address will be deleted from our records immediately after the incentive is sent to you.

The research team will not have access to your identification information. The NSGC is sending the survey invitation on our behalf and will not share your contact and identification information with us, the research team at the Ohio State University. Your responses will be kept in a password protected computer. Any report of this research to the public will not contain any of your contact or identifiable information.

This study was approved by the Ohio State University Institutional Review Board. If you have questions or concerns, please can contact the Principal Investigator, Kate Shane,

LGC at 614-293-6694 Monday-Friday, between 8:00 AM-5:00 PM or by email at [email protected].

To access the survey please follow the link below: https://osu.az1.qualtrics.com/jfe/form/SV_5nYHzUk6doOHipT

Thank you in advance for your time and consideration; it is greatly appreciated.

Sincerely,

Brenda Zuniga, CG, ASCP The Ohio State University Genetic Counseling Student [email protected]

Kate Shane, MS, LGC The Ohio State University Principal Investigator [email protected]

Appendix B. Genetic Counselor Survey

1. According to the Service Delivery Models Task Force (SDMTF) telegenetic counseling is defined as genetic counseling provided remotely via videoconference or web-link, including visual and audio access. It does NOT include telephone only appointments.

Do you currently or have you in the past utilize telegenetics to counsel patients?  Yes  No

Support Tools

2. What platform/software is used for video access during the telegenetics appointment?  1 Doc Way  BigMarker  CarePaths  Cisco Jabber  Cisco WebEx  CloudVisit  ChironHealth  DigiGone  Doxy.me  FaceTime  iMeet  iPath  MedSymphony  Reach Health  SecureTelehealth  SecureVideo  SightCall  Skype  SnapMD  Thera-LINK  Vidyo  Virtual Care Works  Virtual Therapy Connect 70

 VirtualMedix  VSee  webRTC  WeConsel  Do not know  Web-based (Please specify)  Other (Please specify)

3. Which type of equipment set-up is primarily used by the patient for video access?  Desktop computer  iPad  Laptop computer  Polycom  Smartboard  Smartphone  Tablet  Do not know  Other (Please specify)

4. Which type of equipment set-up is primarily used by the patient for audio access?  Same as video access  Telephone  Do not know  Other (Please specify)

5. Which type of equipment set-up do you most often use for video access during the appointment?  Desktop computer  iPad  Laptop computer  Polycom  Smartboard  Smartphone  Tablet  Do not know  Other (Please specify)

6. Which type of equipment set-up do you most often use for audio access during the appointment?  Same as video access  Telephone  Do not know  Other (Please specify)

7. What kind of visual aids are used during the appointment? (Select all that apply)  Electronic aids shared through the screen during the video session  Paper aids provided to the patient  Electronic aids on patient’s separate electronic device  Pre-recorded video sent to patient prior to the appointment  None  Other (Please specify)

Service Delivery

8. Select all areas in which you provide telegenetic counseling services  Cancer genetics  Cardiology  General genetics  Genomic medicine  Infertility  Laboratory  Metabolic disease  Neurology  Pediatrics  Prenatal  Pharmacogenetics  Other (Please specify)

9. Select the area in which you spend the most time providing telegenetic counseling  Cancer genetics  Cardiology  General genetics  Genomic medicine  Infertility  Laboratory  Metabolic disease  Neurology  Pediatrics  Prenatal  Pharmacogenetics  Other (Please specify)

10. Who schedules the telegenetics appointment? (Select all that apply)  You (genetic counselor)  Your attending physician  Your support staff  Your contracting organization  Patient’s referring facility/physician 72

 Do not know  Other (Please specify)

11. What patient information do you most often have access to prior to the appointment?  Insurance information  Family history  Genetic laboratory results  Health history  Imaging results  Pathology results  Other laboratory results  Indication for referral  None are provided  Other (Please specify)

12. Does the patient fill out the health history prior to the appointment?  Yes  No  Sometimes

13. How is the health history filled out by the patient?  Electronic  Paper  Both  Other (Please specify)

14. Where is the patient typically during the appointment?  Patient’s home  Referring provider’s office  Your employer’s medical center (location different from where you are)  Other (Please specify)

15. Where are you typically during the appointment? (Select all that apply)  Your home  Work office  Other (Please specify)

16. Who is routinely in the room with the patient during the appointment? (Select all that apply)  Geneticist  Laboratory director  Medical assistant  Nurse  Physician 73

 Patient only  Social worker  Other (Please specify)

17. Who is routinely in the room with you during the appointment? (Select all that apply)  Geneticist  Laboratory director  Medical assistant  Nurse  Physician  Social worker  No one  Other (Please specify)

18. If genetic testing is ordered, who typically orders the test? (Select all that apply)  You/your support staff  Your attending physician  Your contracting organization  Patient’s referring provider  No genetic testing is ordered  Other (Please specify)

19. If genetic testing is ordered, who typically collects the sample?  Facility where patient is during the appointment  A test kit is mailed to patient’s home  Testing recommendation is given to the referring provider  Patient is sent to an outside facility  Genetic testing is not ordered during the telegenetics appointment  Other (Please specify)

20. If genetic testing is ordered, how does the patient receive the results? (Select all that apply)  Results are disclosed by the genetic counselor via telephone  Results are disclosed in a second telegenetics appointment  Results are disclosed by the referring provider  Results are mailed or e-mailed to the patient  Results are posted on a patient portal  Other (Please specify)

21. Are translation services available during the appointment?  Yes  No  Not needed in this setting  Other (Please specify) 74

22. How do you document the initial visit? (Select all that apply)  Progress note in patient’s chart  Send letter to the referring provider  Send letter to the patient  No documentation is completed  Other (Please specify)

23. How are genetic test results documented? (Select all that apply)  Progress note in patient’s chart  Send letter to the referring provider  Send letter to the patient  No documentation is completed  Other (Please specify)

24. On average, how long are the telegenetic counseling appointments?  1-20 mins  21-40 mins  41-60 mins  61-80-60 mins  81-100 mins  Over 100 mins

25. If you are not employed by the referring institution, is the patient aware of it?  Yes  No  I am employed by the referring institution  Do not know

26. What type of organization refers the most patients to you for telegenetics? (Select all that apply)  Diagnostic laboratory  Government agency  Health insurance sponsored center  Patient self-referred  Private medical practice  Public health medical center  University medical center  Do not know  Other Not-for-Profit organization (Please specify)  Other (Please specify)

27. In how many states do you hold a currently valid license to practice telegenetics? (Please enter a number 0-20) 75

28. Are you currently licensed in all required states where you provided telegenetic services?  Yes  No  In some states  The state(s) does not require licensure  Other (Please specify)

29. Does your employer pay for the licensure fees?  Yes  No  Partially  Does not apply  Other (Please specify)

Billing

30. Who is billed for services? (Select all that apply)  3rd party payer/HMO  Medicare/Medicaid  Other government funded healthcare  Patient self-pay  A grant  No charge  Do not know  Other (Please specify)

31. Who bills for the telegenetic counseling appointment?  You/your employer  Referring provider  No bill is generated  Other (Please specify)

32. How do you bill for the telegenetic counseling appointment? (Select all that apply)  CPT code 96040 (medical genetics and genetic counseling)  CPT codes 99201-99215 (office/outpatient visit)  CPT codes 99241-99245 (consultation visit)  CPT codes 99401-99429 (preventive medicine)  HCPS code S0265  Evaluation and management (E&M) codes  Facility fee  Flat fee  No bill is generated 76

 Do not know  Other (Please specify)

33. Who receives the bill for the telegenetic counseling appointment? (Select all that apply)  The patient  Patient’s Insurance organization  Referring provider  A grant  Your contracting institution  No one receives a bill  Do not know  Other (Please specify)

Demographics

34. Please provide the number of states where you provide telegenetics (Please enter a number 0-50)

35. Is telegenetics your primary or secondary employment?  Primary employment  Secondary employment (Separate from primary employment)  Included in primary employment

36. Do you provide telegenetic counseling for your primary employer?  Yes  No

37. What is your telegenetic counseling employment setting? (select all that apply)  Your contracting organization  Commercial, non-academic laboratory  Non-commercial, academic laboratory  Health insurance sponsored center  Not-for-Profit organization (Not otherwise specified)  Private hospital/Medical facility  Public hospital/Medical facility  Pharmaceutical company  Self-employed  University Medical Center  Other (Please specify)

38. How many total years have you practiced genetic counseling?  0-5 years  6-10 years 77

 11-15 years  16-20 years  21-25 years  More than 25 years

39. How many total years have you practiced telegenetic counseling?  0-5 years  6-10 years  11-15 years  16-20 years  21-25 years  More than 25 years

40. On average, how many hours per week do you provide telegenetic counseling?  10 hours or less  11-20 hours  21-30 hours  31-40 hours  More than 40 hours

41. Of the total patients you counsel, what percentage are seen via telegenetics?  1-25%  26-50%  51-75%  76-100%

42. When do you provide most of the telegenetic counseling?  Regular business hours (9am-5pm)  Evenings  Weekends  Other (Please specify)

Additional Feedback

43. If you no longer provide telegenetic counseling, did you stop due to barriers in the delivery model?  Yes  No  Does not apply

44. In your experience, what are the top three limitations or barriers in the telegenetic counseling delivery model? (Please rank your selections from 1 through 3 with 1 being the most limiting and 3 being the least limiting)  Accessing patient information 78

 Billing  Genetic test result disclosure to patient  Sample collection  Scheduling  Setting a location for the patient  Setting a location for you  Translation services  Visual aids  Videoconference hardware  Videoconference and voice platform/software/technology  Voice hardware  Licensure  None  Other (Please specify)

45. In your experience, do you find that any of these are NOT limiting factors in your ability to provide telegenetic services? (Select up to 3)  Accessing patient information  Billing  Genetic test result disclosure to patient  Sample collection  Scheduling  Setting a location for the patient  Setting a location for you  Translation services  Visual aids  Videoconference hardware  Videoconference and voice platform/software/technology  Voice hardware  Licensure  None  Other (Please specify)

46. Have you found licensure to limit where and how you provide telegenetics?  Yes  No  I prefer not to answer  Other (Please specify)

47. Which additional resources, if any, do you find useful during the telegenetics appointment?

48. In your opinion, what improvements can be made to the telegenetic counseling delivery model? 79

49. Thank you for participating in our study. If you would like to receive a $15 Amazon gift card on our behalf, please provide us with an email address to send you the incentive. This email address will NOT be linked to your response, and will NOT be used for any future contact. Your email address will be deleted from our records after the incentive is sent.