Author ORCID Identifier
0000-0002-4843-1710
Date of Graduation
5-2017
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
S. Shahrukh Hashmi, MD, MPH, PhD
Committee Member
Kate Wilson, MS, CGC
Committee Member
Leslie Dunnington, MS, CGC
Committee Member
Aarti Ramdaney, MS, CGC
Committee Member
Myla Ashfaq, MS, CGC
Committee Member
Elizabeth Nugent, MD
Abstract
Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy. This study aimed to determine the practice of genetic counselors regarding variant discrepancies and to identify the barriers to counseling a variant discrepancy in hereditary cancer genetic testing. This investigation was unique because it was the first to address variant discrepancies from a clinical point of view. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen a variant discrepancy in practice. The most commonly selected barriers to counseling a variant discrepancy were lack of data sharing (90%) and lack of a central database (76%). Most counselors responded that the ideal database would be owned by a non-profit (59%) and obtain information directly from laboratories (91%). When asked how they approached counseling sessions involving variant discrepancies, the free responses emphasized that counselors consider family history and psychosocial concerns, showing that genetic counselors tailored the session to each individual. Variant discrepancies are an ongoing concern for clinical cancer genetic counselors, as demonstrated by the fact that counselors desired further resources to aid in addressing variant discrepancies, including a centralized database (89%), guidelines from a major organization (88%), continuing education about the issue (74%) and functional studies (58%).
Keywords
variant discrepancy, classification, cancer, barriers, resources, interpretation, clinic, database, functional