Genetic counselors, laboratories, and patients themselves have roles to play in reclassifying gene variants, including variants of uncertain significance.
The chatbot developed with Clear Genetics follows up with patients after genetic testing and educates family members at risk for inheriting the same mutations.
Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.
Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.
With this model, the Geisinger team disclosed secondary genomic findings to 95 percent of the MyCode Community Health Initiative participants with such results.
A ClinGen panel reports that only one gene linked to Brugada syndrome out of 21 tested has enough evidence supporting its inclusion in clinical genetic tests.
At the Precision Medicine World Conference this week, researchers discussed how they plan to return genomic results to participants of research-focused sequencing studies.
Since 2015, the Regeneron Genetics Center has sequenced 250,000 exomes from phenotyped individuals, identifying "human knockouts" and other large-effect mutations.
Geisinger is hoping to help others around the country implement precision medicine, which requires significant investment in genomics expertise, as well as infrastructural and operational changes.
