NHGRI Working Group Says Labs, Clinicians Should Include Germline Variants in Tumor Sequencing Tests | GenomeWeb

NEW YORK (GenomeWeb) – Most genomic sequencing-based cancer tests currently do not analyze germline DNA, focusing instead on tumor tissue to keep costs down and speed up turnaround time, despite the fact that studies have shown that this practice may lead to missed results. Nevertheless, it is still possible to identify cancer risk variants that originate in the germline solely from cancer tissue, and laboratories should be prepared to deal with such findings, according to a National Human Genome Research Institute and National Cancer Institute working group.

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