The Frequency of Spontaneously Reported Psychiatric Disorders on Pre-Genetic Counseling Appointment Intake Forms and During Counseling Sessions

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The frequency of spontaneously reported psychiatric disorders on pre-genetic counseling appointment intake forms and during counseling sessions

Thesis

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

the Graduate School of The Ohio State University

Rachel Marbach

Graduate Program in Genetic Counseling

The Ohio State University

2020

Thesis Committee

Dawn C. Allain, MS, CGC, Advisor

Pamela Brock, MS, CGC

Jehannine Austin, PhD, MSc, CCGC, CGC

Copyrighted by

Rachel Marbach

2020

Abstract As psychiatric disorders have a complex etiology, genetic counselors are qualified to provide psychiatric genetic counseling, and patients report positive experiences from this. Due to stigma and other barriers, genetic counselors may not ask about psychiatric disorders, leaving patients to be the ones to broach the topic. However, the rate at which genetic counseling patients report psychiatric disorders without prompting is not currently known. Thus, this study aimed to determine the frequency of spontaneously reported psychiatric disorders within genetic counseling services. A retrospective chart review was conducted of patients who received genetic counseling services at The Ohio

State University Wexner Medical Center (OSUWMC). An internet-based survey was distributed to the genetic counselors whose patients were included in the study which questioned the counselor’s practices related to patient-reported personal or family history of psychiatric disorders. Descriptive statistics were used for trends in reporting frequencies of psychiatric disorders. Out of the total 299 charts reviewed, 31 (10.4%) probands reported a personal psychiatric disorder on their pre-clinic patient-reported family history forms and 106 (35.5%) reported any (personal or family) history of psychiatric disorders. There was a statistically significant difference in reporting between clinics; 32.4% of probands in the cancer clinic and 48.2% in the medical genetics clinic

(p=0.025). Probands with a personal psychiatric disorder reported on average more relatives with psychiatric disorders than probands without personal psychiatric disorders

(p=0.008; 95% CI: 0.32 to 1.90). Anxiety disorders (26%; 65/250) and depressive disorders (20.4%; 51/250) made up the most common types of psychiatric disorders i

reported on pre-clinic patient-reported family history forms. The survey revealed that most genetic counselors (57.1%; 4/7) report they do not ask about psychiatric disorders during their counseling sessions. This data suggests that patients underreport personal histories of psychiatric disorders. Therefore, risk assessment and genetic counseling for psychiatric disorders may not be adequately addressed. If genetic counselors know that patients are less likely to bring up psychiatric disorders in focused settings such as cancer, the responsibility of the counselor to raise the topic becomes even more important.

Acknowledgments

I want to thank my committee members: Dawn Allain, Pamela Brock, and Dr.

Jehannine Austin for their knowledge, guidance, and patience. I’m very appreciative to

Abby Shoben for her contributions of statistical support, and to Leigha Senter for her support throughout the process. Thanks also to Dr. Mandy Toland for her guidance and knowledge in the classroom in the early stages. Finally, I’d like to thank my daily motivators and sounding boards: my parents Maureen and John, my husband Jimmy, and my dearest friends and fellow classmates Cara, Kelly, Leah, and Linda.

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Vita M.S. in Genetic Counseling, The Ohio State University.………….…Expected: May 2020

B.S. Biology/Psychology, Allegheny College…………………………………...May 2016

High School Diploma, Downingtown East High School………………………...June 2012

Publications

Ostrofsky, M., & Marbach, R. (2019). Predicting internal phosphorus loading in

stratified lakes. Aquat Sci 81(18).

Venesky, M.D., DeMarchi, J., Marbach, R., Pariyar, K., Hickerson, C-A. M., Anthony,

C. D. (2020). Female salamanders experience higher parasitism compared to

males: a cost of female reproduction? Journal of Herpetology.

Fields of Study

Major Field: Genetic Counseling

Table of Contents

Abstract ...... i Acknowledgments...... iii Vita ...... iv List of Tables ...... vii List of Figures ...... viii Chapter 1. Introduction ...... 1 Psychiatric Genetic Counseling ...... 1 Benefits of Psychiatric Genetic Counseling ...... 2 Lack of Psychiatric Genetic Counseling and GC Barriers ...... 3 Stigma and Impact on Reporting ...... 4 Chapter 2. Methods ...... 6 Study Aims: ...... 6 1. Determine the frequency of spontaneous reporting of personal and family history of psychiatric disorders by genetic counseling patients...... 6 2. Investigate the impact of demographic factors on patient reporting of psychiatric disorders...... 6 3. Identify trends in genetic counselors’ practices regarding patient-reported personal and family history of psychiatric disorders...... 6 Study Design and Target Population ...... 6 Inclusion Criteria ...... 6 Terminology Defined (Figure 1) ...... 7 Methodology ...... 8 Chart Review ...... 8 Genetic Counselor Survey ...... 8 Data Analysis ...... 9 v

Data Interpretation ...... 10 Chart Review ...... 10 Genetic Counselor Survey ...... 10 Chapter 3. Results ...... 11 Population Characteristics ...... 11 Psychiatric disorders on pre-clinic patient-reported family history forms ...... 13 Demographic and clinic characteristics and reporting ...... 14 Reporting of relatives ...... 16 Characteristics of individuals with psychiatric disorders ...... 18 Psychiatric disorders reported by DSM5 category ...... 19 Differences between pre-clinic patient-reported family history form and GC-updated clinic pedigree ...... 21 Genetic Counselor Survey ...... 22 Chapter 4. Discussion ...... 24 Aim 1: Spontaneous reporting ...... 24 Psychiatric Categories ...... 25 Differences in categories of personal reports and relatives’ categories ...... 26 Aim 2: Demographic impact on spontaneous reporting ...... 27 Aim 3: Genetic counselors’ practices regarding psychiatric reporting ...... 28 Changes in reporting ...... 29 Limitations ...... 30 Future Directions ...... 32 Bibliography ...... 33 Appendix A. Pre-clinic patient-reported family history form ...... 38 Appendix B. Genetic counselor survey...... 42 Appendix C. Survey responses to open-ended questions. Each row represents one genetic counselor’s responses...... 46

List of Tables Table 1. Patient (N=299) demographic and visit information...... 12 Table 2. Breakdown of reported psychiatric disorders documented on pre-clinic patient- reported family history forms within demographics collected...... 16 Table 3. Relatives reported with psychiatric disorders per proband on pre-clinic patient- reported family history form...... 18 Table 4. Genetic Counselor Multiple Choice Question Survey Responses...... 23

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List of Figures Figure 1. Flowchart of patient documentation starting before genetic counseling session and finishing after...... 7 Figure 2. The study process depicting number of patients per category during each step and the percentage that represents out of the total number of patients...... 14 Figure 3. Psychiatric disorder categories reported on pre-clinic patient-reported family history form: psychiatric categories of personal and relatives’ reported disorders (N=250)...... 20 Figure 4. Distributions of DSM5 psychiatric categories (abbreviated here) reported by patients about themselves compared to the reports of their family members...... 21

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Chapter 1. Introduction Psychiatric Genetic Counseling

As of 2017, an estimated 46.6 million American adults were living with a psychiatric disorder, representing 1 in 5 adults and 18.9% of all adults in the United

States (“Psychiatric disorder,” 2019). The etiology of psychiatric disorders are complex.

Twin studies show that one identical twin is more likely to be affected by a psychiatric disorder if their identical twin is affected. Comparatively, non-identical twins have a lower chance of having a psychiatric disorder if their non-identical twin has a psychiatric disorder, but that chance is still higher than the general population, suggesting that genetics plays a significant role in underlying psychiatric disorders (Uher & Zwicker,

2017). Genome wide association studies have identified more than a hundred genetic variants linked to psychiatric disorders, each contributing a small effect (Hyde et al.,

2016; Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014).

Environmental factors are also involved in the etiology of psychiatric disorders (Costain

& Bassett, 2012). Such factors include adverse social environments, exposure to viral infections during gestation, vitamin D deficiency, growing up in an urban environment, hypoxia, and substance exposures among many others (Costain & Bassett, 2012; Uher &

Zwicker, 2017).

Given the frequency of psychiatric disorders, and the at least partial genetic contribution, it will often be present in families who are receiving genetic counseling for other indications. Genetic counseling is defined as, “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic 1

contributions to disease” (National Society of Genetic Counselors’ Definition Task

Force, et al., 2006). As psychiatric disorders have a complex etiology, genetic counselors are well placed and appropriate medical professionals to help individuals and families understand the genetic contribution to the disorder (Martorell et al., 2019; Jenkins &

Arribas-Ayllon, 2016). Although psychiatric disorders are rarely a referral indication, there are genetic counselors who specialize in psychiatric disorders who provide services to patients with psychiatric disorders or with family histories of psychiatric disorders

(Monaco et al., 2010).

Benefits of Psychiatric Genetic Counseling

Patients with psychiatric disorders have been found to desire genetic counseling and genetic testing (Hodgkinson, Murphy, O’Neill, Brzustowicz, & Basset, 2001). While the etiology of psychiatric disorders is not purely genetic; studies show that patients understand this complexity and still report positive experiences (Hippman et al., 2013). In fact, research has shown that psychiatric genetic counseling resulted in a more accurate personal risk perception as well as improved self-efficacy and empowerment (Hippman et al., 2016; Inglis et al., 2015). In several studies, genetic counseling was shown to result in increased understanding of recurrence risk, decreased patient concern, and reduced internalized stigma (Costain et al., 2014; Austin & Honer, 2008). Genetic counseling has also been found to benefit not only affected individuals, but parents of children diagnosed with a psychiatric disorder as well (Austin & Honer, 2008).

Lack of Psychiatric Genetic Counseling and GC Barriers

Given the benefits of psychiatric genetic counseling on the patient and their families, genetic counseling services for psychiatric disorders are warranted. Yet data suggests that access to genetic counseling services for psychiatric disorders is limited.

According to The National Society of Genetic Counselors’ Professional Status Survey, only 1% of genetic counselors work in psychiatric genetics (The National Society of

Genetic Counselors, 2019). As most genetic counselors are not psychiatric-focused, they may or may not be inclined to address psychiatric genetics in a counseling session. In fact, 40% of genetic counselors reported they “rarely” or “never” ask about psychiatric disorders during their sessions (Monaco et al., 2010). The nature of uncertainty that accompanies psychiatric disorders is a likely barrier for genetic counselors in providing psychiatric genetic counseling (Peay et al., 2008). Some studies found genetic counselors were resistant to providing psychiatric genetic counseling because they felt uncomfortable asking about psychiatric disorders and viewed such discussions as more worrisome than helpful due to the uncertain nature (Monaco et al., 2010). Additionally, some genetic counselors have been shown to have negative attitudes towards people with schizophrenia which may disrupt rapport-building in a genetic counseling session and may also cause a genetic counselor to avoid asking or counseling about mental health

(Feret et al., 2011). In a survey of genetic counselors, which measured psychiatric stigmatization and experiences and opinions surrounding psychiatric genetic counseling,

94% of respondents believed that psychiatric genetic counseling was of value to families, and 90.3% believed it was indicated for personal or family history of psychiatric 3

disorders, but only 44.6% reported providing the service (Booke, Austin, Calderwood, &

Campion, 2019).

A study of recent genetic counselor graduates and current graduate students showed further interest in obtaining experience with psychiatric counseling, suggesting genetic counselor graduate education may not adequately address the provision of genetic counseling services for individuals with psychiatric disorders (Low et al., 2018). As such, it is possible genetic counselors do not have confidence in addressing psychiatric disorders or genetic contribution to psychiatric disorders in genetic counseling sessions.

Specifically, stigma surrounding psychiatric disorders has been researched as it relates to comfort with psychiatric genetic counseling. Higher stigma levels among genetic counselors were associated with less frequent discussions of psychiatric genetics, less counselor comfort and perceived qualification, and perceptions of having insufficient psychiatric genetic data, resources, and time (Booke, Austin, Calderwood, & Campion,

2019). Insufficient psychiatric genetic counseling education and psychiatric exposure for genetic counselors may result in patient needs not being addressed.

Stigma and Impact on Reporting

Perceived stigma and fear of having a “label” were found to be the two main barriers preventing people with psychosis from seeking treatment (Hasan & Musleh,

2017). Stigma is acting then in two ways on psychiatric genetic counseling: it may reduce frequency of discussions from a genetic counselor and prevent patients from seeking information about their psychiatric disorder from their genetic counselors. Some studies have found that a personal diagnosis of depression or attention deficit hyperactivity 4

disorder increases the likelihood that an individual would report other family members with these disorders (Vandeleur et al., 2015, Rothen et al., 2015, Verweij et al., 2011).

Another study identified the same pattern: a personal psychiatric disorder predicted higher likelihood of reporting any psychiatric disorders in family members (Milne et al.,

2009). In some studies, women (Kosten et al., 1992) and younger populations were more likely to report psychiatric disorders (Kosten et al., 1992; Milne et al., 2009). However, another study found no difference between males and females in psychiatric disorder- reporting (Verweij et al., 2011).

If genetic counselors are not asking about psychiatric disorders due to stigma or other concerns, then patients must be the ones to broach the topic. However, the rate at which genetic counseling patients volunteer psychiatric disorders without prompting is not currently known. Thus, this study aimed to describe the frequency of spontaneously reported psychiatric disorders within genetic counseling services. This study also investigated whether the sex, age, or ethnicity of patients affected reporting of psychiatric disorders to genetic counselors. It is hoped that by studying the rate at which patients volunteer psychiatric disorders in themselves and family members without prompting, it will help genetic counselors better understand their patients’ behaviors surrounding psychiatric disorder reporting. Then, with this knowledge, be motivated to increase the rate at which they ask patients about psychiatric disorders so that these topics are discussed during genetic counseling sessions.

Chapter 2. Methods Study Aims:

1. Determine the frequency of spontaneous reporting of personal and family history of psychiatric disorders by genetic counseling patients.

2. Investigate the impact of demographic factors on patient reporting of psychiatric disorders.

3. Identify trends in genetic counselors’ practices regarding patient-reported personal and family history of psychiatric disorders.

Study Design and Target Population

A retrospective chart review was conducted of patients who received genetic counseling services in either The Ohio State University Wexner Medical Center (OSUWMC) Adult

Medical Genetic and Genomics Clinic or the OSUWMC Clinical Cancer Genetic Clinics.

All data collected for the study was obtained from the pre- and post- clinic records. This research was approved by The Ohio State University Institutional Review Board.

Inclusion Criteria

Charts were included in the study if they were related to clients who:

• were seen in either the OSUWMC Adult Medical Genetic and Genomic Clinic or

the Clinical Cancer Genetic Clinics between the dates of January 1, 2014 through

December 31, 2018.

• received genetic counseling services by a board certified genetic counselor.

• completed a pre-clinic patient-reported family history form (from which a

Progeny pre-clinic pedigree was generated) and had a genetic counselor (GC)-

updated clinic pedigree.

Terminology Defined (Figure 1)

Figure 1. Flowchart of patient documentation starting before genetic counseling session and finishing after.

• Pre-clinic patient-reported family history forms (Appendix A): Prior to clinic,

patients are sent family history forms, which prompt patients to report medical

histories of themselves, first-, and second-degree relatives.

• Progeny pre-clinic pedigree: This pedigree is created before the patient is seen in

clinic from the data submitted on pre-clinic patient-reported family history form.

• GC-updated clinic pedigree: During the genetic counseling appointment, the

genetic counselor reviews family history information and typically asks more

detailed questions. The genetic counselor adds these acquired details to the

Progeny pre-clinic pedigree creating this GC-updated clinic pedigree. This is the

final version of a patient’s pedigree.

Methodology

Chart Review

Charts were reviewed to determine if they met the inclusion criteria. This process started with charts from 2018, querying one genetic counselor’s patient files at a time until 2018 was complete. The process was repeated for years 2016 and 2017. Due to time restraints, data collection was halted partway through the files from 2015.

The following information about the proband was collected and recorded: year of genetic clinic visit, age, ancestry, reported sex, clinic the subject was evaluated in, genetic counselor seen, and personal psychiatric disorders reported. In addition, if the pre-clinic patient-reported family history form, Progeny pre-clinic pedigree, or GC- updated clinic pedigree included psychiatric disorders in family members, then the type of psychiatric disorders was recorded, as well as the family member’s age, sex, and relationship to the proband was documented. These documents allowed patients to report information on themselves, first- and second-degree relatives. The updated clinic pedigree was also analyzed and any additional personal or family psychiatric history reported was collected.

Genetic Counselor Survey

A study survey was distributed via Qualtrics to the seven genetic counselors who had patients included in the chart review (Appendix B). The survey consisted of four multiple-choice questions and two open-ended questions, which queried the genetic 8

counselor participants about their practices related to patient-reported psychiatric disorders during each step depicted in Figure 1.

Data Analysis

Reported psychiatric disorders were divided into twelve categories, based on

DSM-5, to analyze between and within reporting frequencies. Descriptive statistics were used to look for trends in reporting frequencies based on age, sex, ancestry/race, family member relationship to proband (both degree of relation and maternal or paternal lineage), and presence of reported psychiatric disorder in the proband. Ancestry was grouped into the following categories: American Indian/Alaska Native, Asian, Black or

African American, Hispanic or Latino, Native Hawaiian or Other Pacific Islander, and

White (European, Middle Eastern, North African) in accordance with the National

Institute of Health grant guidelines. Degree of relationship was not assigned to half siblings nor to half aunts and uncles. Age of affected family members was only analyzed for individuals reported to still be living.

Means and proportions were used to describe characteristics of the sample.

Comparisons between those who reported psychiatric history on pre-clinic patient- reported family history forms and those who did not were done using chi-square tests for categorical variables. Finally, differences in the mean number of relatives reported between those with a personal history and those without was conducted using a t-test with unequal variance. Data were analyzed using Stata (version 15) and no corrections have been made for multiple comparisons.

Data Interpretation

Chart Review

Any psychiatric disorder reported on the pre-clinic patient-reported family history form was interpreted as a spontaneous report, as the patient was not prompted to specifically provide information regarding psychiatric disorders. Any change to reporting of psychiatric disorders from the pre-clinic patient-reported family history forms to the

GC-updated clinic pedigree was interpreted as potentially spontaneous reporting from the patient.

Genetic Counselor Survey

The data from the genetic counselor survey provided information about the likelihood that the genetic counselor asked the patient about psychiatric history, which would determine if patient reports of psychiatric disorders on the GC-updated clinic pedigree were offered spontaneously. Because this was a retrospective study, we cannot prove that the counselor did not ask, therefore, this was interpreted as potential spontaneity rather than true spontaneity.

Chapter 3. Results Population Characteristics

A total of 4,402 charts were reviewed out of 4,465 available charts, which resulted in 300 charts which met the study criteria and were eligible for inclusion in data analysis. One chart was dropped from analysis due to researcher error leading to inconsistent data collection for that case. Thus, a total of 299 charts were included in data analysis. Case probands were predominantly female (82%; 245/299) and White (56%;

167/299). Eighty-two percent (244/299) of cases were seen in the Cancer Genetic Clinic and 18% (55/299) were seen in the Medical Genetics Clinic. Cancer cases were seen by a total of six genetic counselors, whereas all of the medical genetic cases were seen by one genetic counselor. Additional demographics can be found in Table 1.

# % Year 2018 68 23% 2017 56 19% 2016 113 38% 2015 62 21% Clinic Cancer 244 82% Medical Genetics 55 18% Sex Male 54 18% Female 245 82%

Age in years1 <35 56 19% 35-49 76 25% 50-64 120 40% 65+ 46 15% Ancestry/Race White 167 56% 2 or more ethnicities 66 22% Missing/unavailable 20 7% Black or African American 16 5% Reported unknown 12 4% Asian 8 3% Hispanic or Latino 5 2% "Do not wish to specify" 3 1% American Indian 2 1%

1 Total patients out of n=298; one patient did not report age. Table 1. Patient (N=299) demographic and visit information.

Psychiatric disorders on pre-clinic patient-reported family history forms

Out of the 299 cases, 31 (10.4%) probands reported a personal psychiatric disorder on their pre-clinic patient-reported family history forms and 106 (35.5%) reported any (personal or family) history of psychiatric disorders. A total of 75 (25.1%) probands reported only a family history of psychiatric disorders. On the GC-updated clinic pedigree, 10% (30/299) of probands reported personal psychiatric disorders and

46.5% (139/299) of all probands reported any (personal or family) history of psychiatric disorders. Figure 2 reports the number of individuals who reported psychiatric disorders on the pre-clinic patient-reported family history form and the GC-updated clinic pedigree; as there was little difference between the Progeny pre-clinic pedigree and the

GC-updated clinic pedigree, Progeny pre-clinic pedigree data is omitted here.

Figure 2. The study process depicting number of patients per category during each step and the percentage that represents out of the total number of patients.

Demographic and clinic characteristics and reporting

One hundred and six probands (35.5%; 106/299) reported personal or family

history of psychiatric disorders on their pre-clinic patient-reported family history forms;

with 32.4% (79/106) of probands from the cancer clinics and 48.2% (27/106) of probands

from the medical genetics clinic reporting personal or family history of psychiatric

disorders. There was a statistically significant difference in reporting between clinics

(p=0.025). Probands who were seen in the medical genetics’ clinic were more likely to

report psychiatric disorders (about themselves or family members) on their pre-clinic

patient-reported family history forms than probands who were seen in a cancer clinic.

Approximately 28% of male probands (15/54) reported a personal or family history of psychiatric disorders compared to 37% (91/245) of female probands. The majority of individuals, across all age groups, did not report any psychiatric disorders. The age group with the highest percentage of psychiatric disorder-reporting individuals was ages <35;

25 individuals (44.6% of this age group) reported any psychiatric disorder and 31 probands did not report any psychiatric disorders (55.4% of this age group). There were no statistically significant differences in reporting a personal history of psychiatric disorders on the pre-clinic patient-reported family history forms between years, counselors, sex of patient, age of patient, or ancestry/race. Table 2 illustrates psychiatric disorder-reporting within demographic and clinic information groups.

Demographic and Clinic Reported personal or family Did not report any p-value information (Groups) psychiatric disorders psychiatric disorders (n=106) (% of demographic (n=193) (% of group) demographic group)

Year 0.20 2018 27 (39.7%) 41 (60.3%) 2017 13 (23.3%) 43 (76.8%) 2016 43 (38.1%) 70 (62.0%) 2015 23 (37.1%) 39 (62.9%) Clinic 0.019 Cancer 79 (32.4%) 165 (67.6%) Med Gen 27 (49.1%) 28 (50.1%) Sex of proband 0.20 Male 15 (27.8%) 39 (72.2%) Female 91 (37.1%) 154 (62.9%) Age of proband 0.34 <35 25 (44.6%) 31 (55.4%) 35-49 27 (35.5%) 49 (64.5%) 50-64 40 (33.3%) 80 (66.7%) 65+ 13 (28.3%) 33 (71.7%) Ancestry/Race n/a White1 55 (32.9%) 112 (67.1%) 2 or more ethnicities 25 (37.9%) 41 (62.1%) Missing/unavailable from chart 9 (45.0%) 11 (55.0%) Reported unknown 7 (58.3%) 5 (41.7%) Black or African American 6 (37.5%) 10 (62.5%) “Do not wish to specify” 3 (100.0%) 0 (0.0%) Asian 1 (12.5%) 7 (87.5%) American Indian 0 (0.0%) 2 (100.0%) Hispanic or Latino 0 (0.0%) 5 (100.0%) Ancestry/Race reduced 0.99 White 55 (32.9%) 112 (67.1%) All others 32 (33.0%) 65 (67.0%)

1 “White” includes European, North African, and Middle Eastern. Table 2. Breakdown of reported psychiatric disorders documented on pre-clinic patient- reported family history forms within demographics collected.

Reporting of relatives

Among the 106 probands (106/299; 35.5%) who reported personal or family psychiatric disorders on their pre-clinic patient-reported family history forms, 52.8% 16

56/106) only reported one affected individual, either in themselves alone (16.1%; 9/56) or in an individual family member (83.9%; 47/56) (Table 3). Twenty-nine percent (31/106) of individuals who reported any psychiatric disorders (personal or in the family) reported a personal history; nine (29%) of whom reported disorders in only themselves. The highest number of individuals reported by a single proband on the pre-clinic patient- reported family history form was ten. This proband reported a personal psychiatric disorder and nine additional affected relatives. Among those who reported a psychiatric disorder in any relative (excluding nine probands who only reported a personal psychiatric disorder), the mean number of relatives reported by those without a personal disorder was 1.57 and the mean number of other relatives in probands with a personal disorder was 2.68. This difference (1.10) was statistically significant (p=0.008; 95% CI:

0.32 to 1.90). Table 3 shows the number of individuals with psychiatric disorders reported by probands.

No personal psychiatric Personal psychiatric disorders reported (n=75) disorders reported (% of all without (n=31) (% of all with personal disorder) personal disorder) Total number of individuals with psychiatric disorders reported 1 47 (62.7%) 9 (29.0%) 2 17 (22.7%) 5 (16.1%) 3 8 (10.7%) 6 (19.4%) 4 2 (2.7%) 7 (22.6%) 5 1 (1.3%) 3 (9.7%) 10 0 (0.0%) 1 (3.2%) Table 3. Relatives reported with psychiatric disorders per proband on pre-clinic patient- reported family history form. Characteristics of individuals with psychiatric disorders

Among the 106 probands who reported personal or family history of psychiatric disorders, a collective 208 individuals were reported with psychiatric disorders between them. Males made up 52.9% of these 208 individuals (n=110). Degree of relationship was determined in 195 of the 208 individuals. The thirteen individuals who did not fall into categories of self, first-degree relative, or second-degree relative, such as spouse or half sibling, were not categorized by degree of relation. By degree of relationship to the proband, 15.9% were the individual proband (31/195), 50.3% were (98/195) first- degree relatives, and 33.9% (66/195) were of second-degree relatives. The 208 individuals were categorized into maternal or paternal relation to the patient. In cases such as sibling or child, these categories were not relevant. Of the 95 relatives (95/208) reported in which paternal and maternal relationship was relevant, 64.2% (61/95) were maternal relatives.

The average age of the individual reported to be diagnosed with a psychiatric disorder was 49.3 years (sd=17.6). 18

Psychiatric disorders reported by DSM5 category

Figure 3 shows the distribution of all psychiatric disorders reported on the pre- clinic patient-reported family history form (N=250). This includes personal as well as relatives’ reported psychiatric disorders. From the 208 individuals reported with disorders, there were 250 disorders total. Twenty-six percent (65/250) of psychiatric disorders reported were anxiety disorders followed by depressive disorders (20.4%;

51/250). There were no personality disorders reported.

Unspecified Mental Schizophrenia Illness Spectrum and 12 Other Psychotic 1 5% All others Disorders 8 7 3% Neurodevelopmental 3% Suicide Disorders 16 27 6% 11%

Bipolar and Related Disorders 21 Substance-Related 9% and Addictive Disorders 43 17% Depressive Disorders 51 20%

Anxiety Disorders 65 26%

Figure 3. Psychiatric disorder categories reported on pre-clinic patient-reported family history form: psychiatric categories of personal and relatives’ reported disorders (N=250). 1Includes: trauma and stressor related disorders (n=4), feeding and eating disorder (n=1) and obsessive compulsive and related disorders (n=3).

Figure 4 illustrates the distribution of psychiatric disorders reported by the probands in themselves compared to reports of their family members. Anxiety disorders made up 43.5% (20/46) of all proband psychiatric disorders and 22.1% (45/204) of all relatives’ psychiatric disorders, depressive disorders made up 30.4% (14/46) of proband 20

diagnoses and 18.1% (37/204) of relatives’ diagnoses. Suicide was reported as cause of death for 7.8% (16/204) of relatives. Substance abuse and related disorders were not reported by any proband as a personal diagnosis but made up 21.1% (43/204) of all relatives’ diagnoses. Probands did not report a personal history of schizophrenia and related disorders but did report these diagnoses in 3.4% (7/204) of relatives. Unspecified psychiatric disorders were only reported for relatives (5.9%; 12/204). No relatives were reported to have a feeding/eating disorder, but one proband reported a personal history.

Categories of psychiatric disorders of personal and all individuals on pre- clinic patient-reported family history forms 50% 43.5% 45% 40% 35% 30.4% 30%

25% 22.1% 21.1% 20% 18.1% 15.2% 15% 9.8% 9.3% 7.8% 10% 5.9% 4.3% 3.4% 5% 2.2%1.5% 2.2% 2.2% 1.0% 0.0% 0.0% 0.0% 0.0% 0.0% 0%

% of all personal reports % all of reports of relatives

Figure 4. Distributions of DSM5 psychiatric categories (abbreviated here) reported by patients about themselves compared to the reports of their family members. Differences between pre-clinic patient-reported family history form and GC-updated clinic pedigree

Among the probands and family members (n=208) who were reported to have a psychiatric disorder, 183 (88%) individuals were also reported on the GC-updated clinic

pedigree. One-hundred thirteen new individuals with psychiatric disorders were reported at the time of the genetic counseling session on the GC-updated clinic pedigree. Fifty-one

(45%) of these 113 individuals were third-degree relatives to the proband. The number of patients reporting any individuals with psychiatric disorders was greater on GC-updated clinic pedigree (n=139) then on pre-clinic patient-reported family history forms (n=106)

(Figure 2).

Genetic Counselor Survey

Seven genetic counselors participated in the survey, which represented all the counselors whose charts were included in the study. The genetic counselors’ responses to survey questions two through five are summarized in Table 4. The most endorsed response (n=5) to the question, “How do you respond if patients report a psychiatric disorder about themselves?” was that they ask follow-up questions regarding that person’s control, management, and treatment of their psychiatric disorder. Three of the seven (42.9%) of the genetic counselors endorsed that their response to the patient would depend on the situation, when asked to the question, “How do you respond if patients report a psychiatric disorder about a relative?”. Only one (14.3%) genetic counselor reported asking about psychiatric disorders in situations when patients do not report them, two (28.6%) reported asking sometimes and the remainder (57.1%; 4/7) reported never asking about psychiatric disorders. Responses to the open-ended question “How do you respond if patients report a psychiatric disorder about themselves?” and “How do you respond if patients report a psychiatric disorder about a relative?” can be found in

Appendix C. 22

Question Answer n (%) Do you transfer patient-reported psychiatric disorders from the pre-clinic patient-reported family history forms onto the Progeny pre-clinic pedigree? Yes 5 (71.43) No 2 (28.57) Sometimes 0 (0) Do you transfer patient-reported psychiatric disorders from the Progeny pre-clinic pedigree onto the GC-updated clinic pedigree? Yes 6 (85.71) No 0 (0) Sometimes 1 (14.29) If you see psychiatric disorders reported on the Progeny pre- clinic pedigree, do you ask details about it during the counseling session? Yes 1 (14.29) No 2 (28.57) Sometimes 4 (57.14) During a counseling session, do you ask about psychiatric disorders in situations when patients do not report them? Yes 1 (14.29) No 4 (57.14) Sometimes 2 (28.57)

Table 4. Genetic Counselor Multiple Choice Question Survey Responses.

Chapter 4. Discussion Aim 1: Spontaneous reporting

The first aim of this study was to determine the frequency at which patients spontaneously report psychiatric disorders. Our data showed that 10.4% of probands spontaneously reported a personal history of psychiatric disorders on pre-clinic family history forms, which is less than prior published reports of psychiatric disorders, which estimate that approximately 18% of the general population have a psychiatric disorder.

(“Psychiatric disorder,” 2019; Stambaugh et al., 2017). If our study population is representative of the national population, this study suggests that patients underreport personal histories of psychiatric disorders. It is important to note that in the genetic counselor cohort who obtained the updated clinic pedigrees, the majority of them reported they never ask about personal/family history of psychiatric disorders. As such, if approximately half of all patients with psychiatric disorder are reporting them to genetic counselors, and genetic counselors are not asking their patients about psychiatric disorders, risk assessment and genetic counseling for psychiatric disorders are not being adequately addressed. This is a concern, given that prior research has shown that psychiatric genetic counseling provides patients with increased knowledge about psychiatric genetics and personal empowerment (Hippman et al., 2016; Inglis et al.,

2015).

According to data from 2017, 7.1% of adults in the United States experienced at least one major depressive episode (National Survey on Drug Use and Mental Health).

Our data revealed that only 4.7% of probands reported a history of depression. This

reflects underreporting of depression by patients. In fact, most psychiatric categories including major depressive episodes, anxiety disorders, bipolar disorder, PTSD, OCD, borderline personality disorder, neurodevelopmental disorders, and substance abuse were underreported as compared to annual prevalence rates in adults (National Survey on Drug

Use and Mental Health, 2017; NAMI, 2019; NIMH “Statistics”, 2018; Brugha, et al.,

2016; National Epidemiologic Survey of Alcohol and Related Conditions-Wave 1,

Compton, W.M., et. al. 2007; Hasin et al, 2007; Grant, B.F. et. al. 2004). The only category of psychiatric disorders to match national data on annual prevalence was eating disorders, specifically anorexia nervosa. Of note, this was one patient in the current study comprising 0.3% of all disorders reported.

Psychiatric Categories

The most commonly reported disorders on the pre-clinic patient-reported family history forms were anxiety disorders (26%) followed by depressive disorders (20.4%), which is expected given that these two disorders are the most prevalent types of psychiatric disorders (NAMI, 2019). Given this prevalence, one might argue that probands are more willing to report personal and family histories of anxiety and depression because the disorders are perceived to be more socially acceptable due to their high prevalence. If there is less stigma surrounding disorders, those disorders may be reported spontaneously at a higher frequency than other less common psychiatric disorders.

Interestingly, substance-related disorders were the psychiatric disorders documented most often on the GC-updated clinic pedigree. It is possible the genetic counselor may have asked specifically about substance-related disorders as part of their targeted family history assessment. For example, cancer genetic counselors frequently ask about alcohol or tobacco use to ascertain factors related to cancer risk. These questions may lead patients to report substance use. It is also possible that the genetic counselor asked about how family members died and, since individuals with substance abuse disorders may have a substance-related death or serious health concerns, the proband may have been more likely to disclose these instances to the genetic counselor.

Differences in categories of personal reports and relatives’ categories

Four categories of psychiatric disorders: substance abuse, suicide, unspecific psychiatric disorder, and schizophrenia were reported in relatives, but not in the proband’s personal history. Obviously, suicide was reported only in relatives because the proband was alive at that time of the counseling session. It is also logical that a proband would report an unspecified psychiatric disorder in their relatives as opposed to themselves, because if the proband had a diagnosis of a psychiatric disorder, they would know what type of psychiatric disorder they had. However, the proband may not know details of a relative’s diagnosis of a psychiatric disorder. Schizophrenia has overall low prevalence in the general population, which could account for fewer probands reporting a personal history. However, given that schizophrenia can be debilitating and socially challenging for some affected individuals, it may be a barrier to attending a genetic counseling appointment, leading to lower representation among the psychiatric disorders 26

reported. Substance abuse accounted for 21.1% of all disorders reported in relatives, but not a single proband reported a personal history of substance abuse. As relatives are distant to them and unknown to the genetic counselor, it may be easier to talk about substance abuse in their relatives. Patients may avoid disclosing diagnoses of schizophrenia and substance abuse to avoid potential stigmatization.

Aim 2: Demographic impact on spontaneous reporting

Probands with a personal history of psychiatric disorders reported more family members with psychiatric disorders than probands without personal disorders. This finding is consistent with a study by Milne and others (2009) which identified a correlation between personal psychiatric disorders and reporting of psychiatric disorders in other family members. Additionally, given the familial component to psychiatric disorders, this finding is not unexpected. The higher rate of reported affected family members among probands with a personal history may also be because the affected proband is more comfortable discussing psychiatric disorders in their families than individuals who do not have a personal diagnosis of psychiatric disorder. Genetic counselors should inquire about psychiatric disorders specifically, in order to obtain accurate information to inform risk assessment and counseling.

Our data revealed a statistically significant difference in spontaneous reporting of psychiatric disorders between the medical genetics and the cancer genetic clinic population. Although this study did not collect data related to the referral indications, one might assume that psychiatric disorders arise more often in medical genetics consult because indications for referrals are likely to involve syndromic conditions. As 27

syndromic conditions involve multiple features and body systems, it is reasonable to think that the probands may perceive the psychiatric disorders as more relevant to their genetic work-up. If genetic counselors know that patients are less likely to bring up psychiatric disorders in focused settings such as cancer, the responsibility of the counselor to raise the topic becomes even more important. There are known psychological implications of cancer genetic testing on patients with existing psychiatric disorders (Ringwald et al., 2016; Gritz et al., 1999). Unless genetic counselors prompt patients about psychiatric disorders, especially in cancer-focused sessions, patients will not receive accurate psychiatric genetic risk assessments nor receive optimal psychiatric support.

Aim 3: Genetic counselors’ practices regarding psychiatric reporting

Our survey data showed that most of the genetic counselors included the reported psychiatric disorders from the pre-clinic patient-reported family history forms on their

Progeny pre-clinic pedigree. However, some genetic counselors report they do not include patient reported psychiatric disorders on pre-clinic pedigrees, making a discussion about the history of psychiatric disorders during the actual genetic counseling appointment very unlikely. While the majority of the genetic counselors (4/7) reported that they “sometimes” ask details about the history of psychiatric disorders reported by the proband during the counseling session, the majority (6/7) noted that if a proband did not report a personal or family history they “never” or “sometimes” asked about personal/family history of psychiatric disorders. Only one counselor reported asking about psychiatric disorders in situations when patients do not report them. It is not 28

surprising that many of the counselors’ practice patterns related to psychiatric disorders was inconsistent as it is very likely that none of the genetic counselors had graduate education about psychiatric genetics. Psychiatric genetic counseling is an emerging specialty, and given that these genetic counselors completed graduate school over 10 years ago, one can assume they did not have related formal training. These findings highlight the potential need for education on when and how to provide psychiatric genetic counseling and may support the finding of Low and others (2018) of recent genetic counselor graduates and current graduate students showing further interest in obtaining experience with psychiatric counseling.

Changes in reporting

There were 306 individuals with psychiatric disorders reported on GC-updated clinic pedigrees. Of these 306 individuals, 113 (37%) were previously unreported on the pre-clinic patient-reported family history forms and the Progeny pre-clinic pedigrees.

Approximately 45% (51/113) of these new individuals were third-degree relatives to the proband and 21.2% (24/113) were second-degree relatives not previously prompted for on the pre-clinic patient-reported family history forms: nephews, nieces, grandchildren.

Since the pre-clinic patient-reported family history form prompts the proband to provide information for only their first- and some second-degree relatives, these new individuals, totaling 75 (66.4%), had to be provided to the genetic counselor when obtaining the family history. Since the majority of the genetic counselors (4/7) reported they do not ask about psychiatric disorders if the patient does not report them, these new affected individuals were likely ascertained in one of two ways; they were either were reported 29

spontaneously by the proband based on family history discussion or the counselor asked about something which led to the disclosure.

Of note, approximately 8% (17/208) of individuals with psychiatric disorders who were reported on pre-clinic patient-reported family history forms were not included on the Progeny pre-clinic pedigrees. When the Progeny pre-clinic pedigrees were created, it is possible that the reported psychiatric disorders may have been perceived as irrelevant to the risk assessment or genetic counseling appointment. When pre-clinic proband- reported psychiatric disorders are omitted from a proband’s pedigrees, we can assume that additional questions related to the disorders were not addressed during the session with the proband. This may cause the proband to feel stigmatized, as they reported the disorder, but the health care provider ignored it. These actions might lead to increased stigma and cause individuals to stop reporting psychiatric disorders to other healthcare providers. Additionally, these individuals may then perceive psychiatric disorders as a topic not appropriate to discuss in a genetics appointment. Since studies have shown that individuals with psychiatric disorders benefit from psychiatric genetic counseling, this becomes a lost benefit for the patient (Hippman et al., 2016; Inglis et al., 2015; Costain et al., 2014; Austin & Honer, 2008).

Limitations

One limitation of this study is the assumption that pre-clinic patient-reported family history forms were completed by the proband themselves. If spouses or family members other than the patient themselves were the ones reporting psychiatric disorders,

the data suggesting no differences in reporting based on sex and age may be comprised, as sex and age of the proband were used, while in reality, the reporter of psychiatric disorders could have differing demographic information.

It is possible certain psychiatric disorders are more likely to be reported than others based on the information requested on pre-clinic patient-reported family history form, causing a skew in the proportions of psychiatric disorders categories. Suicide- related and drug overdose-related deaths are more likely to be reported because the pre- clinic patient-reported family history form prompts for cause of death. Further, because the pre-clinic patient-reported family history forms prompt for cause of death, complete spontaneity may have been jeopardized.

During the clinic visit, genetic counselors may ask routine follow-up questions for specific health conditions that may lead to psychiatric disclosure. For example, the counselor could ask about alcohol use as related to a pancreatic cancer diagnosis, so the patient reports alcoholism since the subject of alcohol use was broached by the counselor.

This type of conversation could arise in the context of genetic risk assessment for cardiac- or cancer-related conditions and, again, may have compromised the true spontaneity of patient-reported psychiatric disorders.

Since this is a single center study and investigation of only two different clinic specialties: cancer and medical genetics; the findings of this study cannot be generalized to all genetic encounters. Further, all seven genetic counselors in this study graduated with the genetic counseling degree 10 or more years ago, so generalizability to more recent graduates and genetic counselors as a whole may be limited. 31

Future Directions

Future studies should investigate the influence of referral indications on spontaneous psychiatric disorders, as we found a difference in reporting based on clinic specialty but were not able to investigate based on patient-specific indications for the appointments. It would also be worthwhile to investigate how different generations of genetic counselors address psychiatric disorders, as genetic counseling graduate programs have begun to include psychiatric genetics content in their curriculum. It is possible stronger trends of psychiatric reporting would emerge with larger sample sizes per ancestral category, so a similar study with larger sample sizes within ancestral groups might explore this question. Finally, a future study might consider observations of genetic counseling sessions to be able to measure true spontaneity of psychiatric disorder reporting as well as investigate genetic counselors’ prompting for and addressing psychiatric disorders first-hand without the assumptions utilized in this study.

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Appendix A. Pre-clinic patient-reported family history form

CLINICAL CANCER AND MEDICAL GENETICS PROGRAM All forms need to be in our office before your appointment is scheduled. Please send by E-mail to [email protected] using 'E-mail Form' button on last page or by Fax: 614-293-2314 or Mail: Genetics, 2012 Kenny Road, Suite 261 Columbus, OH 43221 page 1/5 Family History - Patient's First Degree Relatives

Patient Lastname: First Name, MI: Birthdate:

Date Completed: MRN:

Current Age Age at Death List this person's health problems and/or cause of death: At Relationship: First and Last Name: If Living If Deceased what age were diagnosed (approx.)? If no health problems, please write "Healthy"

Patient

Spouse

Father

Mother

Sister

Brother

Sister

Brother

Sister

Brother

Sister

Brother

S ister Brother

Appendix B. Genetic counselor survey. Frequency of spontaneously reported psychiatric disorders on pre-genetic counseling appointment i

Start of Block: Default Question Block

Q1 The Ohio State University Consent to Participate in Research Study Title The frequency of spontaneously reported psychiatric disorders on pre-genetic counseling appointment intake forms and during counseling sessions. Principal Investigator: Dawn Allain, MS, LGC This is a consent form for research participation. It contains important information about this study and what to expect if you decide to participate. Your participation is voluntary. You can stop taking the survey at any time. Purpose: You are being asked to participate in this research study because you are a genetic counselor employed by OSUWMC in the oncology or medical genetics department. We are conducting this survey to assess how genetic counselors address psychiatric disorderes during genetic counseling sessions. Procedures/Tasks: Survey questions will assess your practice regarding psychiatric disorderes. No protected health information will be collected, recorded, or assessed. Incentives: There are no incentives to participating. Duration: The survey should take no longer than 15 minutes to complete. Duration of participation will commence once you have taken the survey. No long term follow up is necessary for this study. You may leave the study at any time. If you decide to stop participating in the study, there will be no penalty to you, and you will not lose any benefits to which you are otherwise entitled. Your decision will not affect your future relationship with The Ohio State University. Risks and Benefits: There are no major benefits to participating in this study. Results from this study may have benefits to the genetic counseling community. With the information gleaned from this study, genetic counselors may be made aware of others’ practices surrounding psychiatric disorder and psychiatric genetic counseling, which may lead to better care for the population affected by psychiatric disorderes. No protected health information will be collected, recorded, or assessed from this survey. By virtue of indicating your interest to participate in the study, your email address will be shared with the research team. This information will be stored in a safe, encrypted computer. There is no risk for physical injury as a part of this study. Subjects do not give up any personal legal rights by agreeing to participate in this study. Confidentiality: Efforts will be made to keep your study-related information confidential. However, there may be circumstances where this information must be 42

released. For example, personal information regarding your participation in this study may be disclosed if required by state law. Also, your records may be reviewed by the following groups (as applicable to the research):· Office for Human Research Protections or other federal, state, or international regulatory agencies;· The Ohio State University Institutional Review Board or Office of Responsible Research Practices;· The sponsor, if any, or agency (including the Food and Drug Administration for FDA-regulated research) supporting the study. We will work to make sure that no one sees your survey responses without approval. But, because we are using the Internet, there is a chance that someone could access your online responses without permission. In some cases, this information could be used to identify you. Participant Rights: You may refuse to participate in this study without penalty or loss of benefits to which you are otherwise entitled. If you are a student or employee at Ohio State, your decision will not affect your grades or employment status. If you choose to participate in the study, you may discontinue participation at any time without penalty or loss of benefits. By signing this form, you do not give up any personal legal rights you may have as a participant in this study. Your de-identified information will not be used or shared for future research. An Institutional Review Board responsible for human subjects research at The Ohio State University reviewed this research project and found it to be acceptable, according to applicable state and federal regulations and University policies designed to protect the rights and welfare of participants in research. Contact and Questions: For questions, concerns, or complaints about the study, or you feel you have been harmed as a result of study participation, you may contact Dawn Allain via email [email protected] or via phone at (614) 293-9713. For questions about your rights as a participant in this study or to discuss other study-related concerns or complaints with someone who is not part of the research team, you may contact Ms. Sandra Meadows in the Office of Responsible Research Practices at 1-800-678- 6251.Please print a copy of this consent form for your records, if you so desire. WAIVER OF CONSENT DOCUMENTATION TO PARTICIATEI have read and understand the above consent form, I certify that I am 18 years old or older and, by clicking the button below to take this survey, I indicate my willingness to voluntarily take part in the study. Otherwise, use the X at the upper right corner to close this window and disconnect.By clicking the button below to take this survey, you indicate that you agree with the above statement.

o I agree (1)

o I do not agree (2)

Page Break

Q2 Do you transfer patient-reported psychiatric disorders from the family history intake form onto the initial pedigree?

o Yes (1)

o No (2)

o Sometimes (3)

Q3 Do you transfer patient-reported psychiatric disorders from the initial pedigree onto the final pedigree?

o Yes (1)

o No (2)

o Sometimes (3)

Q4 If you see psychiatric disorder reported on the initial pedigree, do you ask details about it during the counseling session?

o Yes (1)

o No (2)

o Sometimes (3)

Q5 During a counseling session do you ask about psychiatric disorders in situations when patients do not report them?

o Yes (1)

o No (2)

o Sometimes (3)

Q6 How do you respond if patients report a psychiatric disorder about themselves?

______

Q7 How do you respond if patients report a psychiatric disorder about a relative?

______

End of Block: Default Question Block

Appendix C. Survey responses to open-ended questions. Each row represents one genetic counselor’s responses.