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Cigna worked with InformedDNA to come up with scenarios under which it would cover whole-exome sequencing, although it still considers whole-genome analysis investigational.

The evidence-based "Choosing Wisely" suggestions are meant to facilitate conversation between doctors and patients about unnecessary and wasteful interventions.

With these five recommendations, ACMG is hoping to spur evidence-based and cost-effective genetic testing.

An NEJM update from the ClinVar team highlights the difficulties of interpreting genetic variants.

A group of 10 so-called PediSeeker volunteers from the Children's Hospital of Philadelphia interpreted secondary variants in PediSeq exomes.

Emory's Madhuri Hegde presented two cases that illustrate how researchers can initially be led astray in their initial interpretation of exome data.

Members of the Exome Aggregation Consortium have collected and done variant calling on more than 90,000 human exomes.

The organization argues that clinical utility should be defined by more than whether a test leads to an intervention that results in an improved outcome.

The workgroup has created standard categories for variant classification and has outlined a process for mitigating classification disagreements among labs.

JHU's Joshua Sharfstein and UNC's James Evans penned editorials for and against FDA's efforts to regulate lab tests ahead of a public meeting Jan. 8-9.


Researchers are developing a breath test to determine how severe patients' methylmalonic acidemia disease is, FierceBiotech reports.

NPR reports that vaccine developers are working on SARS-CoV-2 vaccines that are easier to store or administer than the current crop.

Reuters reports that France is to recommend that people under 55 who received one dose of AstraZeneca's SARS-CoV-2 vaccine receive a different vaccine for their second dose.