Randy Scott, PhD, CEO, InVitae, just posted a blog entry about genetic testing that goes well beyond the recent headlines.
He ponders how we can evolve from a society that provides costly reactive health care to one that focuses on preventive medicine.
InVitae, San Francisco/Palo Alto, Calif, a CLIA-certified genetic diagnostics company that offers customizable, clinically-relevant next-generation sequencing panels, advocates for the burgeoning movement to share clinical variants and the Free The Data! coalition that was introduced on June 13. (Among the coalition members are Genetic Alliance and UCSF.)
We’ve excerpted Scott’s blog here:
Can Sharing Your Genetic Information Save a Life or Accelerate a Cure?
Last week, the world took a huge step forward toward a new era of personalized medicine when the Supreme Court ruled that naturally occurring DNA cannot be patented. We applaud the Supreme Court decision. Now that we have the freedom to test all genes known to cause a hereditary disorder, we need to Free the Data! Today, clinically-observed genetic variants are often held in proprietary databases, rather than shared. If instead, the world begins to share genetic information, we can collectively harness this power to improve our understanding of genetics and improve healthcare for everyone.
Moving From a World of Genetic Scarcity To a World of Genetic Abundance
Historically, obtaining genetic information through DNA sequencing was expensive, laborious, and used sparingly in medicine. As a result, we have lived in a world of “genetic scarcity.” With the advent and maturity of next generation sequencing, it is now possible to obtain DNA sequence information inexpensively and quickly. In this new world of “genetic abundance,” we will not only be able to better understand the genetics of human disease, but also facilitate an evolution from reactive medicine to preventative medicine.
Genetic Information is Most Valuable when Shared
Historically, the sharing of genetic information has been limited to each individual clinical lab finding a new mutation in a patient’s sample and calling their colleagues in other labs, or key opinion leaders in a particular disease area, to find out if others had seen the mutation before in other patients. We didn’t have a comprehensive database of clinically-observed variants. Some commercial laboratories not only patented genes, but also kept any observed variants proprietary, electing not to share these with the clinical laboratory community. But, we lived in the Era of Genetic Scarcity and only a relatively small number of targeted genetic tests were done, so lab directors didn’t need to use the “variant of uncertain significance phone tree” all that often. However, with the Era of Genetic Abundance upon us, each lab director may have to investigate thousands of variants per week rather than just one or two. Most clinical molecular geneticists agree that the need for such a resource is imperative. We just need to break down the barriers and unite as a community.
To read the entire piece, click here.
[Source: InVitae Blog]