An Investigation of Genetic Counselors’ Testing Recommendations: Pedigree Analysis and the Use of Multiplex Breast Cancer Panel Testing
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Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group’s Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.
KeywordsPedigree analysis Cancer risk assessment BRCA1/2 PTEN TP53 Next generation sequencing Multiplex panel testing
We are grateful to the genetic counselors who took the time to participate in this survey, Laura Conway for her support and feedback, Steven Robbins for his input in design and interpretation, and Michael Kallan and Colleen Brensinger for their assistance with the statistical analysis.
Conflict of Interest
Meghan Lundy, Andrea Forman, Kathleen Valverde and Lisa Kessler declare they have no conflict of interest.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study.
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