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dc.titleFamily history assessment significantly enhances delivery of precision medicine in the genomics era
dc.contributor.authorBylstra, Yasmin
dc.contributor.authorLim, Weng Khong
dc.contributor.authorKam, Sylvia
dc.contributor.authorTham, Koei Wan
dc.contributor.authorWu, R. Ryanne
dc.contributor.authorTeo, Jing Xian
dc.contributor.authorDavila, Sonia
dc.contributor.authorKuan, Jyn Ling
dc.contributor.authorChan, Sock Hoai
dc.contributor.authorBertin, Nicolas
dc.contributor.authorYang, Cheng Xi
dc.contributor.authorRozen, Steve
dc.contributor.authorTeh, Bin Tean
dc.contributor.authorYeo, Khung Keong
dc.contributor.authorCook, Stuart Alexander
dc.contributor.authorJamuar, Saumya Shekhar
dc.contributor.authorGinsburg, Geoffrey S.
dc.contributor.authorOrlando, Lori A.
dc.contributor.authorTan, Patrick
dc.identifier.citationBylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick (2021-01-07). Family history assessment significantly enhances delivery of precision medicine in the genomics era. Genome Medicine 13 (1) : 3. ScholarBank@NUS Repository.
dc.description.abstractBackground: Family 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. Methods: To 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. Results: Amongst 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. Conclusions: These 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 registration: NCT02791152. Retrospectively registered on May 31, 2016. © 2021, The Author(s).
dc.publisherBioMed Central Ltd
dc.rightsAttribution 4.0 International
dc.sourceScopus OA2021
dc.subjectClinically actionable variants
dc.subjectFamily history
dc.subjectPopulation genomics screening
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.contributor.departmentDEAN'S OFFICE (DUKE-NUS MEDICAL SCHOOL)
dc.description.sourcetitleGenome Medicine
Appears in Collections:Staff Publications

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