Factors Influencing Clinical Follow-Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned. Of those participants who were planning to return to clinic, most cited having family members who could benefit from the test result as the primary motivation to return. Many participants who were not planning to return to clinic cited the cost of testing as a barrier to return. Cost of testing and concerns about insurance coverage were the most commonly cited barriers for the group of participants who were undecided about returning to clinic. Results from this study may be used to guide re-contact efforts by clinicians to increase patient uptake to return to clinic for up-to-date genetic risk assessment, counseling, and testing.
KeywordsMotivations Barriers Return behavior BRCA negative Hereditary cancer Multi-gene panel testing Genetic testing Breast cancer Ovarian cancer
All research activities were conducted while the first author was enrolled in the Genetic Counseling Program, College of Medicine, University of Cincinnati and Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH. Representatives from GeneDx were not involved in data collection or analysis. The project described was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health, under Award Number 5UL1TR001425-02. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
The research team would like to thank Danielle Rolfes and Meghan Tipsword for their contributions to the research, including preparing and sending mailings, scheduling appointments, tracking updated patient contact information, and coding free-response data.
Funding to conduct this research was provided by GeneDx.
Compliance with Ethical Standards
Conflict of Interest
Sara Knapke is an employee of GeneDx, Inc., a wholly owned subsidiary of OPKO Health, Inc.
Sarah E. Chadwell received a research grant from GeneDx, Inc., a wholly owned subsidiary of OPKO Health, Inc. to conduct this research.
Hua He, Jaime Lewis, Rebecca Sisson, and Jennifer Hopper declare that they have no conflicts of interest.
Human Studies and Informed Consent
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 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
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