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@article{Bylstra:2021:10.1186/s13073-020-00819-1,
author = {Bylstra, Y and Lim, WK and Kam, S and Tham, KW and Wu, RR and Teo, JX and Davila, S and Kuan, JL and Chan, SH and Bertin, N and Yang, CX and Rozen, S and Teh, BT and Yeo, KK and Cook, SA and Jamuar, SS and Ginsburg, GS and Orlando, LA and Tan, P},
doi = {10.1186/s13073-020-00819-1},
journal = {Genome Medicine: medicine in the post-genomic era},
title = {Family history assessment significantly enhances delivery of precision medicine in the genomics era},
url = {http://dx.doi.org/10.1186/s13073-020-00819-1},
volume = {13},
year = {2021}
}

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TY  - JOUR
AB  - BACKGROUND: 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, p
AU  - Bylstra,Y
AU  - Lim,WK
AU  - Kam,S
AU  - Tham,KW
AU  - Wu,RR
AU  - Teo,JX
AU  - Davila,S
AU  - Kuan,JL
AU  - Chan,SH
AU  - Bertin,N
AU  - Yang,CX
AU  - Rozen,S
AU  - Teh,BT
AU  - Yeo,KK
AU  - Cook,SA
AU  - Jamuar,SS
AU  - Ginsburg,GS
AU  - Orlando,LA
AU  - Tan,P
DO  - 10.1186/s13073-020-00819-1
PY  - 2021///
SN  - 1756-994X
TI  - Family history assessment significantly enhances delivery of precision medicine in the genomics era
T2  - Genome Medicine: medicine in the post-genomic era
UR  - http://dx.doi.org/10.1186/s13073-020-00819-1
UR  - https://www.ncbi.nlm.nih.gov/pubmed/33413596
UR  - http://hdl.handle.net/10044/1/98435
VL  - 13
ER  -

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