The Family History — More Important Than Ever
Abstract
Although the family history is part of the basic workup that has been taught in medical schools for generations, it often does not get the attention it should. In this article, the authors make the case for taking a good family history in the era of genomic medicine and provide a computer tool that can be downloaded and used by patients to help record this history.
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Family history captures shared genetic variations and environmental factors among family members.
“As the key element for precision medicine, family history (FH) captures shared genetic variations and environmental factors among family members [1,2].”
From Family History Extraction From Synthetic Clinical Narratives Using Natural Language Processing: Overview and Evaluation of a Challenge Data Set and Solutions for the 2019 National NLP Clinical Challenges (n2c2)/Open Health Natural Language Processing (OHNLP) Competition (2021) · cites this paper as [1]
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 [3]
Cites
Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375033 · Cited by 3,680 · 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
Family history of suicide among suicide victims.
Runeson, B., & Åsberg, M. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.8.1525 · Cited by 250 · see citing works
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Danese, A., Moffitt, T. E., Harrington, H., Milne, B. J., Polanczyk, G., Pariante, C. M., Poulton, R., & Caspi, A. (2009) · Archives of Pediatrics & Adolescent Medicine · doi:10.1001/archpediatrics.2009.214 · Cited by 1,165 · see citing works
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · see citing works
Self-citationPersonalized Medicine and the Power of Electronic Health Records
Abul-Husn, N. S., & Kenny, E. E. (2019) · Cell · doi:10.1016/j.cell.2019.02.039 · Cited by 355 · see citing works
Practical challenges in integrating genomic data into the electronic health record
Kho, A. N., Rasmussen, L. V., Connolly, J. J., Peissig, P. L., Starren, J., Hakonarson, H., & Hayes, M. G. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.131 · Cited by 108 · see citing works
Bioprinting and organ-on-chip applications towards personalized medicine for bone diseases
Arrigoni, C., Gilardi, M., Bersini, S., Candrian, C., & Moretti, M. (2017) · Stem Cell Reviews and Reports · doi:10.1007/s12015-017-9741-5 · Cited by 68 · see citing works
Yang, X., Zhang, H., He, X., Bian, J., & Wu, Y. (2020) · JMIR Medical Informatics · doi:10.2196/22982 · Cited by 29 · see citing works
Shen, F., Liu, S., Fu, S., Wang, Y., Henry, S., Uzuner, O., & Liu, H. (2021) · JMIR Medical Informatics · doi:10.2196/24008 · Cited by 21 · see citing works
- Authors
- Guttmacher, A. E., Collins, F. S., & Carmona, R. H.
- Affiliations
- National Institutes of Health (US)
- United States Department of Health and Human Services (US)
- ORCID
- Collins, Francis S.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2004-11-25
- Volume
- 351
- Issue
- 22
- Pages
- 2333-2336
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2009467402
- Cited by
- 497
- References
- 3
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 6 · 2023: 9 · 2022: 11 · 2021: 22 · 2020: 23 · 2019: 20 · 2018: 21 · 2017: 14 · 2016: 30 · 2015: 30 · 2014: 28 · 2013: 36 · 2012: 38
- FWCI
- 66.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Health Professions › Health Information Management › Electronic Health Records Systems
- Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- family history (medicine), family history taking, genomic medicine, genetic disorders, genetic risk prediction, primary care
- MeSH terms
- Genetic Testing, Humans, Medical History Taking, Pedigree, Genetic Predisposition to Disease
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