Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.

ABSTRACT:

Background

Next generation sequencing for oncology patient management is now routine in clinical pathology laboratories. Although wet lab, sequencing and pipeline tasks are largely automated, the analysis of variants for clinical reporting remains largely a manual task. The increasing volume of sequencing data and the limited availability of genetic experts to analyse and report on variants in the data is a key scalability limit for molecular diagnostics.

Method

To determine the impact and size of the issue, we examined the longitudinally compiled genetic variants from 48,036 cancer patients over a six year period in a large cancer hospital from ten targeted cancer panel tests in germline, solid tumour and haematology contexts using hybridization capture and amplicon assays.

SUBMITTER: Doig KD 

PROVIDER: S-EPMC8962530 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature