The researchers believe their findings could be used to change how patients' risk for breast cancer, colon cancer, or heart disease is calculated.
The firm hopes to return fewer VUS in its test reports and to accelerate the resolution of uncertain results issued to patients in that past.
Stanford University's Allison Kurian and her colleagues found that women with pathogenic variants were more likely to undergo a bilateral mastectomy.
The test is designed to determine breast cancer risk by analyzing a number of factors including breast density, breast biopsy history, and a polygenic score.
If cancer patients carrying the variants could be identified early, their therapeutic strategy could be altered to reduce their risk of cardiomyopathy.
A Chinese study involving NIPS data from almost two million pregnant women found that a new bioinformatic approach improves the detection of cancer.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.
With retrospective and prospective analyses on women with BRCA1/2 mutations, investigators began teasing out breast cancer risk relative to reproductive history.