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genetic risk variants

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.

As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.

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.

Investigators calculated that the new assay, which includes 67 SNPs, could offer a 50 percent improvement over previous methods if used in newborn screening.

The article argues that PRS are bad at identifying those who will develop disease but others say this is the same for widely used risk factors.

After a successful pilot that recruited 1,000 patients, NorthShore will now engage 10,000 people to receive Color's genomic testing in their primary care.

The studies involved data from 14,000 Hispanic women and showed the 87-SNP risk score outperformed its 86-SNP score for European women.

A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.

Heidi Rehm

To nudge genetic testing labs to share their variant data, MGH now requires that labs to which it sends tests to contribute variants to the ClinVar database.

The German company validated the panel, which focuses on actionable results, in a 300-participant clinical study in collaboration with Robert-Bosch-Hospital in Stuttgart.

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