Whole-Genome Sequencing in Cancer

The Future of Blood Testing Is the Immunome

“…The main appeal of sequencing as a diagnostic modality is its potential to detect all of the possible variants of a given gene or genes in a single test. In situations where there are many variants that may be diagnostically or prognostically useful, as is the case for cancer and in genetic disorders such as cystic fibrosis, sequencing has been shown to be more sensitive than tests that target a limited set of variants, for example using PCR ( 5 , 6 ). NGS-based testing has also advanced the field of immunogenomics, providing a more streamlined means of identifying and cataloguing novel human leukocyte antigen (HLA) genes and associating allelic variants and haplotypes with diseases and immune perturbations (see below).…”

Early-stage economic analysis of research-based comprehensive genomic sequencing for advanced cancer care

“…Our early-stage cost consequence estimates based on historical data from 2014 to 2015 necessarily involve considerable uncertainty. Genomic sequencing technologies are evolving rapidly, as is the knowledge base for interpreting and integrating genomic data into clinical care (Goodwin et al 2016 ; Zhao et al 2019 ). Since the termination of our study period, many new biomarkers and corresponding targeted treatments have emerged, potentially increasing the accessibility and efficacy of genomics-informed care (Collins et al 2017 ; Lee et al 2018 ).…”

Emerging Role of Clinical Genetics in CKD

“…WGS detects complex trait variants, including copy number variants and variants in genes situated in intronic and other noncoding segments of the genome. 10,31,50 WGS results from 2 large databases were used to measure the frequency of highconfidence mutations presumed to be causative in ADPKD and autosomal dominant polycystic liver disease (ADPLD), and to estimate lifetime ADPKD prevalence using strict criteria for defining rare variants in genes involved in ADPKD (PKD1, PKD2), and ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5), and potential cystic disease modifiers. 51 Determination of high-confidence pathogenic mutations in WGS resulted in a lower boundary for lifetime prevalence of ADPKD of 9.3 cases per 10,000 sequenced.…”