Family history assessment significantly enhances delivery of precision medicine in the genomics era.

ABSTRACT:

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

SUBMITTER: Bylstra Y 

PROVIDER: S-EPMC7791763 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature