Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach
Open accessAbstract
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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Some professionals are uncertain about the value of genetic testing.
“Apart from these positive assessments, studies also demonstrate that some professionals are uncertain about the value of genetic testing [51, 90] and doubt that all patients will benefit significantly from PM [30, 31, 42, 49, 54, 57].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Professionals and patients fear discrimination based on the results of genetic testing, particularly by insurance companies or employers.
“In addition to possible disparities in access to PM, professionals and patients fear discrimination based on the results of genetic testing [27, 79, 92, 97], particularly by insurance companies or employers [46, 51, 54, 63, 86, 94–96, 98, 115].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Professionals and patients in some studies report psychological implications from knowing or while waiting for the test results.
“Besides these adverse events, professionals and patients in some studies report psychological implications from knowing [31, 32, 46, 51, 63, 113] or while waiting for the test results [26].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Incidental findings, variants of unknown significance or results that indicate a high risk for an incurable disease can affect the well-being of patients.
“Incidental findings [79, 96], variants of unknown significance [79] or results that indicate a high risk for an incurable disease can affect the well-being of patients [51].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Several quantitative studies indicate that patients want to be fully informed about tests, the results and treatment options.
“Several quantitative studies indicate that patients want to be fully informed about tests [71], the results [51, 71, 72, 78] and treatment options [29].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Professionals, patients and representatives from patient organizations are concerned about whether health insurance companies will cover the costs or patients can pay for them.
“For example, professionals [45, 120], patients and representatives from patient organizations are concerned about whether health insurance companies will cover the costs [51, 63, 76] or patients can pay for them [61, 95, 96].”
From Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis (2021) · cites this paper as [51]
Cites
Using thematic analysis in psychology
Braun, V., & Clarke, V. (2006) · Qualitative Research in Psychology · doi:10.1191/1478088706qp063oa · Cited by 194,414 · see citing works
Reconsidering the family history in primary care
Rich, E. C., Burke, W., Heaton, C. J., Haga, S., Pinsky, L., Short, M. P., & Acheson, L. (2004) · Journal of General Internal Medicine · doi:10.1111/j.1525-1497.2004.30401.x · Cited by 347 · see citing works
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Erdmann, A., Rehmann-Sutter, C., & Bozzaro, C. (2021) · BMC Medical Ethics · doi:10.1186/s12910-021-00682-8 · Cited by 86 · see citing works
- Authors
- Puryear, L., Downs, N., Nevedal, A., Lewis, E. T., Ormond, K. E., Bregendahl, M., Suarez, C. J., David, S. P., Charlap, S., Chu, I., Asch, S. M., Pakdaman, N., Chang, S.-I., Cullen, M. R., & Palaniappan, L.
- Affiliations
- Stanford Medicine (US)
- VA Palo Alto Health Care System (US)
- Stanford University (US)
- Corresponding author
- Palaniappan, Latha
- ORCID
- Venue
- Journal of Community Genetics
- Published
- 2017-12-27
- Volume
- 9
- Issue
- 3
- Pages
- 283-291
- ISSN
- 1868-310X (ISSN-L)
- 1868-6001
- PMC
- PMC6002302
- OpenAlex
- W2780769018
- Cited by
- 31
- References
- 2
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 4 · 2023: 3 · 2022: 3 · 2021: 7 · 2020: 2 · 2019: 1 · 2018: 2
- FWCI
- 0.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Community Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Spectrum (Stanford Center for Clinical and Translational Research and Education) (UL1 TR001085)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Medical and Health Sciences Research
- Keywords
- genetic testing, genomic testing, primary care, patient expectations, provider perspectives, family history (medicine), genetic risk communication, gatekeeping, genetic discrimination, access to genetic testing, provider preparedness, personalized medicine
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