Abstract
While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution. A convenience sample of 100 adult primary care patients and 26 PCPs was gathered. The survey and interview questions focused on perceptions of genetic testing, experience with genetic testing, and expectations of genetic services in primary care. Patients felt that their PCP was knowledgeable about genetic testing and expected their PCP to be the first to recognize a need for genetic testing based on family history. Nonetheless, patients reported that PCPs rarely used family history information to discuss genetic risks or order testing. In contrast, PCPs felt uncertain about the clinical utility and scientific value of genetic testing. PCPs were concerned that genetic testing could cause anxiety, frustration, discrimination, and reduced insurability, and that there was unequal access to testing. PCPs described themselves as being “gatekeepers” to genetic testing but did not feel confident or have the desire to become experts in genetic testing. However, PCPs were open to increasing their working knowledge of genetic testing. Within this academic medical center, there is a gap between what patients expect and what primary care providers feel they are adequately prepared to provide in terms of genetic testing services.
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Acknowledgments
We would like to thank the Division of Primary Care and Population Health (PCPH) of Stanford University School of Medicine for providing access to the Stanford Research Registry and providing funds to patient survey respondents to allocate to a PCPH research topic of their choice. This work was supported by Stanford Health Care and the Stanford Clinical and Translational Science Award (CTSA) to Spectrum (UL1 TR001085). The CTSA program is led by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of Stanford Health Care or the NIH. Lastly, we would like to acknowledge Stanford Translational Research Integrated Database Environment (STRIDE), a research and development project at Stanford University which creates a standards-based informatics platform supporting clinical and translational research.
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This study was supported by Stanford Health Care and the Stanford Clinical and Translational Science Award (CTSA) to Spectrum (UL1 TR001085). Ethics approval was obtained from the University’s Institutional Review Board, whose identification was deliberately omitted to protect patients’ identities.
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.
Conflict of interest
Lauren Puryear, Natalie Downs, Andrea Nevedal, Eleanor T. Lewis, Kelly E. Ormond, Maria Bregendahl, Carlos J. Suarez, Sean P. David, Steven Charlap, Isabella Chu, Steven M. Asch, Neda Pakdaman, Sang-ick Chang, Mark R. Cullen, and Latha Palaniappan declare no conflict of interest.
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Puryear, L., Downs, N., Nevedal, A. et al. Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach. J Community Genet 9, 283–291 (2018). https://doi.org/10.1007/s12687-017-0349-x
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DOI: https://doi.org/10.1007/s12687-017-0349-x