Genetic Testing Summit Report

“The Summit was a masterful educational process – that is an achievement and a step toward solutions.”

Eyes on the Prize: Truth Telling about Genetic Testing, held September 20-21 at the Renaissance M St in Washington, DC, successfully fostered honest, stimulating discussions about genetic testing.  

Participants hailed from every sector of the genetics community in almost equal measure – government, biotechnology companies, and academics attended in the greatest number, but advocacy organizations, laboratories, law/consulting firms, and professional organizations also had a strong presence.  At the end of the two days, a simple, dramatic consensus was reached: “All stakeholders want what is best for the patients. The promise of better healthcare is within our control.”

First, however, several gaps in the system must be addressed.  According to Francis Collins, director of the National Human Genome Research Institute, there is a need for “sunshine on the data,” which can be achieved through a comprehensive registry for laboratories and their tests.  Such a registry would help to rid the industry of “bad actors.”  

An overhaul of the oversight of genetic testing is also needed.  Though only one part of the pipeline, the sessions on oversight generated a host of important questions focusing on the who’s, what’s, and how’s of genetic testing:  What are the quality standards for genetic testing?  Who determines them?  Who is responsible for enforcing those standards?  How should they do that?  What will be regulated?  How do we craft responsive, risk-based regulation?  How do we provide oversight without impeding access and innovation? 

A ‘one size fits all’ approach is not appropriate in the world of genetic testing, and the current CMS/FDA/CDC labyrinth is cumbersome and inadequate for the rapidly advancing technology in the field. Genetic tests have significant value and pose great opportunities and challenges for those involved.  To deal with them, public-private partnerships are desirable, and education is critical at all points in the process – from patients to clinicians to Congress.

From the easier said than done to the outright controversial, several action steps grew from the days’ discussions.  First and foremost:  Tell the truth.  If everyone tells the truth, the demand for transparency will be less of a burden, and the creation of a forum for discourse between CMS and FDA will be a natural progression.  Over the course of the two days, it became increasingly clear that additional, specific summits are necessary to effect concrete change:  to start, a summit on the third party review system, a summit with a focus on evidence data and outcomes data, and, most loudly called for, a summit on reimbursement.

The most pressing action item to come out of the Summit encompasses the rest:  Act now.  We must move beyond our turf, both literally and figuratively – there is a need to look beyond the United States for examples and solutions, and an urgent need for all players to recognize each others’ strengths and cooperate.  The process has already begun.  Genetic Alliance is producing journal articles and a monograph to publicize the Summit outcomes, and the final report will be available November 15.

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