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ACMG

The new guidelines are meant to assist medical professionals in understanding the complexity and implications of exome sequencing in prenatal care.

Amid rapid adoption of multi-gene panels, ACMG experts are seeing some doctors and patients taking actions they shouldn't.

Absent sufficient evidence to support genetic testing for all patients, the group recommended following existing guidelines, which are based on clinical factors.

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.

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.

A NorthShore University HealthSystem and Color pilot picked up pathogenic variants in nearly 9 percent of unselected individuals with a hereditary cancer gene test.

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.

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Nature News writes that viral genomic surveillance in the US faces systemic issues.

President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.

A small, early-stage trial of a combination therapy for brain cancer reports favorable responses in two patients, according to the Guardian.

In PLOS this week: sex-stratified genome-wide association study of chronic pain, sequencing data from Indigenous Mexican groups, and more.