Genetic Testing Outcomes in a Utilization Management Genetic Counseling Clinic Compared to Genetic Testing Ordered by Non-Genetics Providers by Megan Frances Hoenig BS, Biomedical Sciences and Genetics, Texas A&M University, 2016 Submitted to the Graduate Faculty of the Department of Human Genetics in partial fulfillment of the requirements for the degree of Master of Science and Master of Public Health University of Pittsburgh 2019 UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH This thesis was presented by Megan Hoenig It was defended on May 20, 2019 and approved by Andrea L. Durst, MS, DrPH, LCGC, Assistant Professor of Human Genetics, Licensed Genetic Counselor, Associate Director, Genetic Counseling Program, Co-Director, MPH in Public Health Genetics Program, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh Christine D. Munro, MS, MPH, LCGC, Licensed Certified Genetic Counselor, Laboratory Services, UPMC Children’s Hospital of Pittsburgh Ada Youk, PhD, Associate Professor of Biostatistics, Director, Master’s Program in Biostatistics, University of Pittsburgh, Graduate School of Public Health Affiliate Investigator/Senior Biostatistician, Center for Health Equity Research and Promotion VA Pittsburgh Healthcare System Thesis Advisor: Jodie M. Vento, MGC, LCGC, Manager, Center for Rare Disease Therapy & Brain Care Institute and Genetic Counseling Supervisor, Laboratory Services UPMC Children’s Hospital of Pittsburgh, Adjunct Instructor, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh ii Copyright © by Megan Hoenig 2019 iii Jodie M. Vento, MGC, LCGC Genetic Testing Outcomes in a Utilization Management Genetic Counseling Clinic Compared to Genetic Testing Ordered by Non-Genetics Providers Megan Hoenig, MS, MPH University of Pittsburgh, 2019 Abstract UPMC Children’s Hospital of Pittsburgh started the Genetic Testing Clinic (GTC) in January 2018. The GTC is a genetic counseling-only clinic that offers same-day and advance-scheduled appointments for referrals from non-genetic providers ordering a genetic test. This clinic is unique in that it incorporates utilization management (UM) for the requested genetic test while providing comprehensive genetic counseling. After one year and 459 patients, outcomes of the clinic, such as test order modifications, family history risk assessment and triage, and genetic test uptake were assessed. Upon IRB approval, retrospective chart review of the electronic medical record and internal databases were performed for 206 of the GTC patients to obtain detailed outcomes of the clinic. Additionally, chart review of genetic testing completed by non-genetics providers prior to the GTC’s inception in 2017 was performed for a comparison. Chart review identified 14.6% (30/206) of the GTC patients had unrelated family history risk factors, for which a referral to cancer genetics or cardiogenetics was provided and 7.3% (15/206) of GTC patients had their test modified based upon genetic counselor review. Finally, review of possible results, risks, benefits and limitations of genetic testing were discussed and documented routinely for GTC patients. In contrast, non-genetics providers often lacked documentation of the informed consent process. 77/150 (51%) of the non-genetics providers did not document any of the possible types of genetic testing results, 67/150 (45%) documented one type of possible genetic testing result; 112/150 iv (75%) did not document any risks, benefits or limitations; and 149/150 (99%) did not document the possibility of incidental findings. Genetic counseling is valuable for patients undergoing genetic testing; however, not every patient receives genetic counseling. This clinic represents a service delivery model that provides genetic counseling and UM for patients who may not have otherwise received it. This has public health significance as it improves access to genetic counseling services, ensures comprehensive pre- and post- test counseling, and has improved insurance authorization approval. v Table of Contents Preface ....................................................................................................................................... XIII Abbreviations ........................................................................................................................... XIV 1.0 Introduction .................................................................................................................. 1 1.1 Background .......................................................................................................... 1 1.2 Specific Aims ........................................................................................................ 3 1.2.1 Specific Aim 1................................................................................................... 3 1.2.2 Specific Aim 2................................................................................................... 3 1.2.3 Specific Aim 3................................................................................................... 4 1.2.4 Specific Aim 4................................................................................................... 4 2.0 Literature Review......................................................................................................... 5 2.1 Genetic Testing and the Healthcare System ...................................................... 5 2.2 Genetic Counseling .............................................................................................. 6 2.2.1 Genetic Counseling Specialties ....................................................................... 7 2.2.2 Benefits Of Genetic Counseling ...................................................................... 8 2.2.3 Workforce Shortage in Genetic Counseling ................................................ 10 2.2.4 Barriers to Genetic Counseling .................................................................... 11 2.2.5 Access and Service Delivery Models in Genetic Counseling...................... 12 2.2.5.1 Telegenetics .......................................................................................... 14 2.2.5.2 Telephone Genetic Counseling ........................................................... 15 2.2.5.3 Group Genetic Counseling ................................................................. 17 2.2.5.4 Utilization of Genetic Counseling Assistants .................................... 17 vi 2.2.5.5 Other Service Delivery Models .......................................................... 18 2.3 Genetic Testing ................................................................................................... 21 2.3.1 Genetic Test Selection ................................................................................... 22 2.3.2 Genetic Test Results ...................................................................................... 25 2.3.2.1 Complexity of VUSs ............................................................................ 26 2.3.2.2 Genetic Nuances .................................................................................. 29 2.3.3 Psychosocial Considerations ......................................................................... 29 2.3.3.1 Pediatrics.............................................................................................. 30 2.3.3.2 Impacts on Life And Relationships ................................................... 31 2.3.3.3 Other ELSI Considerations................................................................ 34 2.4 Utilization Management .................................................................................... 35 2.4.1 Laboratory Genetics Utilization Management ........................................... 36 2.4.2 Hospital Genetics Utilization Management ................................................. 38 2.5 Non-Genetics Provider’s Perceptions of Genetics .......................................... 41 2.5.1 Knowledge, Awareness, and Attitudes of Genetics, Genetic Counselors, and Genetic Testing by Non-Genetics Providers ............................................................ 42 2.5.2 Genetics Education in Medical School......................................................... 43 2.5.3 Benefits and Limitations to Genetic Testing Ordered by Non-Genetics Providers ..................................................................................................................... 45 3.0 Manuscript .................................................................................................................. 48 3.1 Background ........................................................................................................ 48 3.2 Methods .............................................................................................................. 50 3.2.1 Study Population............................................................................................ 50 vii 3.2.2 Data Identification ......................................................................................... 51 3.2.3 Data Collection ............................................................................................... 52 3.2.4 Data Analysis.................................................................................................. 57 3.3 Results ................................................................................................................. 60 3.3.1 Patient Information ......................................................................................