Reconsidering the family history in primary care
Open accessAbstract
Objective The purpose of this paper is to review the role of the family history in predictive genetic testing, describe how family history taking is practiced in adult primary care, identify the current barriers to appropriate application of the family history, and outline the requirements for a new family history tool for primary care. Design We reviewed current perspectives on the family history, identifying key references in the medical literature and web-based family history tools through discussions with multiple content experts in clinical genetics, family medicine, and internal medicine. We conducted a Medline query using the search terms family history and primary care to identify references from the past 10 years. To illustrate the usefulness of family history information, we calculated the predictive value of family history and genetic information for familial adenomatous polyposis using current references and standard formulas. We identified paper and web-based family history tools through discussions with content experts. We also conducted a search on the World Wide Web to identify resources for electronic medical record and family history. Results The family history is the most important tool for diagnosis and risk assessment in medical genetics, and promises to serve as a critical element in the use of predictive genetic testing in primary care. Traditional medical education about family history has often been unsophisticated and use of family history in adult primary care has been limited, compounded by multiple substantive barriers. Although there are numerous paper and computer-based aides for taking the family history, none currently meets all the needs of adult primary care. Conclusions The patient's family history remains a critical element in risk assessment for many conditions, but substantive barriers impede application in primary care practice, and evidence for its contribution to improved health outcomes is limited in this setting. Short of radical changes in reimbursement, new tools will be required to aid primary care physicians in the efficient collection and application of patient family history in the era of genetic testing.
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Family history is a critical risk factor associated with numerous diseases.
“Patients’ family history (FH) is a critical risk factor associated with numerous diseases [1-3] such as diabetes [4], coronary heart disease [5], and multiple types of cancers [6-9].”
From Extracting Family History of Patients From Clinical Narratives: Exploring an End-to-End Solution With Deep Learning Models (2020) · cites this paper as [2]
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- Authors
- Rich, E. C., Burke, W., Heaton, C. J., Haga, S., Pinsky, L., Short, M. P., & Acheson, L.
- Affiliations
- Creighton University (US)
- University of Washington (US)
- American Medical Association (US)
- Case Western Reserve University (US)
- Corresponding author
- Rich, Eugene C.
- Venue
- Journal of General Internal Medicine
- Published
- 2004-03
- Volume
- 19
- Issue
- 3
- Pages
- 273-280
- ISSN
- 0884-8734 (ISSN-L)
- 1525-1497
- PMC
- PMC1492151
- OpenAlex
- W2005518396
- Cited by
- 347
- References
- 46
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 7 · 2023: 9 · 2022: 16 · 2021: 15 · 2020: 14 · 2019: 10 · 2018: 10 · 2017: 11 · 2016: 14 · 2015: 24 · 2014: 26 · 2013: 25 · 2012: 25
- FWCI
- 3.13
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Journal of General Internal Medicine (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Health Sciences › Health Professions › General Health Professions › Primary Care and Health Outcomes
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Health Promotion and Cardiovascular Prevention
- Keywords
- family history (medicine), primary care, predictive genetic testing, family history taking, familial adenomatous polyposis, risk assessment, electronic health records, genetic counseling
- MeSH terms
- Adult, Family Health, Family Practice, Genetic Testing, Humans, Medical History Taking, Primary Health Care, United States
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