Whole genome sequencing

Exome sequencing correctly identified individuals with cancer predisposition syndromes who would have been missed by current screening guidelines, according to results from the Tapestry clinical trial. Data presented at the AACR Annual Meeting 2023 showed that among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and […]

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases.  Context   In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their […]

Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies – precision medicines. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact.  The origins  One might argue that this all started getting exciting with the launch […]