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hereditary 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.

Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.

Call to Undo

An opinion piece appearing at Stat News calls the CMS decision to limit access to next-generation sequencing-based tests for hereditary cancers a "grievous error."

The American Society of Breast Surgeons updated consensus guidelines to recommend multigene panel testing for patients with cancer, including those who were tested many years ago.

The company will compete by continuing product improvements, ramping up marketing presence, and launching an app to improve doctor and consumer engagement.

The planned product, which will target drug-development companies, uses machine learning techniques to predict the outcomes and likelihood of success of clinical trials.

Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.

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

Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.

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The long-running Framingham Heart Study has received a $38 million grant, according to the Boston Globe.

A Stanford University investigation finds that its researchers did not take part in He Jiankui's work to develop gene-edited infants.

Retraction Watch reports that two researchers had both a Science and a Nature paper retracted last week.

In Genome Biology this week: genomic sequencing of milkweed bug, benchmark comparison of single-cell RNA sequencing platforms, and more.