Heidi Rehm, PhD, FACMG
Associate Professor of Pathology
Brigham & Women’s Hospital and Harvard Medical School
W. Andrew (Andy) Faucett, MS, LGC
Director of Policy and Education
Office of the Chief Scientific Officer
Considerations for the Return of Genomic Results
Pragmatic clinical trial; Genome; Genomic testing; All of Us; ClinVar
- Technical validity and sample identity are challenges to scaling genomic interpretation and returning results to clinicians and patients.
- The ClinVar database aggregates information about genomic variation and its relationship to human health but there are interpretation differences.
- A guiding principle for All of Us research is a “focus not just on disease, but also on ways to increase an individual’s chances of remaining healthy throughout life.”
- Geisinger used multi-stakeholder groups to develop a process to return biobank results to participants.
The legal and regulatory environment makes returning results challenging, and educating IRB members is necessary for the option (or the imperative) to return results because they may be clinically relevant.
One of the challenges that we face in genetics is that we have all of these pieces of data that need to be interpreted, and the interpretation is constantly evolving.
There is a lot of potential benefit to patients and the community to return results. However, the tools that exist for patients to use need to be improved in order for the information to be truly useful.
For information on data dissemination, visit The Living Textbook http://bit.ly/2BDWdTx
@PCTGrandRounds, @HeidiRehm, @andyfaucett, @AllofUsResearch, #precisionmedicine, #pragmatictrials, #pctGR