ArticleGenome medicine2021
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 2 registered trials, which are not on this map. Cited by 24 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
SingHEART: Effects of Physical Activity, Ambulatory Blood Pressure and Calcium Score on Cardiovascular Health in Normal People
Integration of Family Health History Data Into a Singaporean Healthy Population Cohort Database to Understand the Associations Between Family Health History and Genomics
Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Familial Risk Factors in Thyroid Cancer Across Generations and Geographics: A Systematic Review and Meta-Analysis.Current oncology (Toronto, Ont.) · 2025Pooled it
- Considering family trees as a useful tool in family medicine: a systematic review.Primary health care research & development · 2025Pooled it
- Current status of knowledge, diagnosis and management of hereditary colorectal cancer among physicians in China: a national questionnaire survey of 81 doctors from different hospitals.Familial cancer · 2026Article
- Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.Journal of community genetics · 2026Article
- Quality and Safety Imperatives in the Identification and Management of Hereditary Cancer Syndromes.Seminars in oncology nursing · 2026Review
- A feasibility study to collect three generation family histories using a patient completed questionnaire provided by a family physician.Journal of community genetics · 2026Article
- Article
- Health Literacy and Awareness of Family Health History in the All of Us Research Program.Public health genomics · 2026Article
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Molecular impact of single nucleotide polymorphisms in GIPR gene among type 2 diabetes mellitus patients in the Saudi population.Diabetology & metabolic syndrome · 2025Article
- Impact of Genetic Risk Factors on Coronary Heart Disease Risk Across the Age Spectrum in Three Major Race/Ethnicity Groups in the United States.medRxiv : the preprint server for health sciences · 2025Article
- Understanding and applying gene-environment interactions: a guide for nutrition professionals with an emphasis on integration in African research settings.Nutrition reviews · 2025Review
- Role of nursing and midwifery in mainstreaming genomics in Australia: mixed-methods study exploring scope of practice and strategies for implementation.Frontiers in genetics · 2025Article
- Family History of Arthritis, Osteoporosis, and Carpal Tunnel Syndrome and Risk of These Conditions Among US Adults.Arthritis care & research · 2024Article
- Usability, Engagement, and Report Usefulness of Chatbot-Based Family Health History Data Collection: Mixed Methods Analysis.Journal of medical Internet research · 2024Article
- Family History and Uterine Fibroid Development in Black and African American Women.JAMA network open · 2024Article
- Article
- Acquisition of a Lexicon for Family History Information: Bidirectional Encoder Representations From Transformers-Assisted Sublanguage Analysis.JMIR medical informatics · 2023Article
- Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Expanding Family Health History to Include Family Medication History.Journal of personalized medicine · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundFamily history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the value of family history unknown. We evaluated the utility of incorporating family history information for genomic sequencing selection.
methodsTo ascertain the relationship between family histories on such population-level initiatives, we analysed whole genome sequences of 1750 research participants with no known pre-existing conditions, of which half received comprehensive family history assessment of up to four generations, focusing on 95 cancer genes.
resultsAmongst the 1750 participants, 866 (49.5%) had high-quality standardised family history available. Within this group, 73 (8.4%) participants had an increased family history risk of cancer (increased FH risk cohort) and 1 in 7 participants (n = 10/73) carried a clinically actionable variant inferring a sixfold increase compared with 1 in 47 participants (n = 17/793) assessed at average family history cancer risk (average FH risk cohort) (p = 0.00001) and a sevenfold increase compared to 1 in 52 participants (n = 17/884) where family history was not available (FH not available cohort) (p = 0.00001). The enrichment was further pronounced (up to 18-fold) when assessing only the 25 cancer genes in the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes. Furthermore, 63 (7.3%) participants had an increased family history cancer risk in the absence of an apparent clinically actionable variant.
conclusionsThese findings demonstrate that the collection and analysis of comprehensive family history and genomic data are complementary and in combination can prioritise individuals for genomic analysis. Thus, family history remains a critical component of health risk assessment, providing important actionable data when implementing genomics screening programs.
trial registrationClinicalTrials.gov NCT02791152 . Retrospectively registered on May 31, 2016.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.