Randy Scott

Can sharing your genetic information save a life or accelerate a cure?

Randy Scott, Invitae co-founder, describes Invitae’s mission

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.

We founded Invitae because we are passionate about reducing the barriers to obtaining diagnostic and preventative genetic testing.  Three members of my extended family have suffered from significant genetic conditions.  Many of the people who work at Invitae have similar stories of family members who could have benefited from better access to genetic testing—the stories range from newborns with mysterious metabolic disorders to young adults with an undiagnosed fatal heart condition to delayed diagnosis and treatment of a child because the clinical picture was “atypical” and the doctors tested too narrowly.  Having a child with serious unmet health needs, where the parents don’t have a diagnosis, can be one of the most frustrating and painful experiences in life.  Many families who have a symptomatic child spend years on a journey…  seeing doctors, undergoing numerous tests, searching for answers.   Although there is much to learn about the genome, there is a lot we already know about genes and disease, and it’s time to make that information more accessible and affordable.

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.

Here at Invitae, we pledge to put all our clinically-observed variants into the public domain, such as through ClinVar, and we encourage all other clinical laboratories to do the same.  ClinVar – http://www.ncbi.nlm.nih.gov/clinvar/ —is a unified, curated, publicly available, clinical-grade database, cataloguing clinically important genetic variants.

A Rising Tide Lifts All Boats 

Invitae is proud to be a strong advocate and supporter of the growing movement to share clinical variants and the Free The Data!  coalition that was launched 13th June 2013.  Other coalition members include Genetic Alliance and UCSF.

Free the Data! is a grassroots movement where everyone can participate.  At its core, the movement encourages patients, physicians and clinical labs who have results from genetic testing to contribute their variants to a safe, public database anonymously while giving patients complete control of the amount of information they wish to share.  This movement also requires the support of advocacy groups because they can rally their members to submit data.

The movement has the propensity to help everyone across multiple disease areas. While today the Free the Data! campaign has a focus on BRCA1 and BRCA2, these are just 2 of the more than 20,000 genes in the human genome.  There are over 3000 genetic disorders with many different genes involved. Free the Data! is about getting ALL clinical variants for all conditions into the database.  The medical and scientific community can then access this collective data to accelerate our understanding of genetic disease, find new therapies and even some day lead to prevention.

We invite others in the community to support this initiative. We encourage physicians, patients, academics, advocacy groups and industry professionals to participate.  A rising tide lifts all boats – by all of us working together hand-in-hand, we can empower each other to increase the value of genetic information and accelerate our path to alleviating human disease.  Please visit www.free-the-data.org or contact 202.966.5557 x201 for more information about Free the Data!

Connecting the World Through Genetics 

My belief is that the early fear about genetics, from the perspective of genetic discrimination, is about to change.  There is a growing awareness that genetics is not a dividing factor but rather a common denominator that unites humanity irrespective of our cultural, racial, socio-economic, religious or political disparities.  Genetically, we are more similar than different; we are all related and we are all connected.  We all have children and relatives who suffer from genetic diseases and we all need to rally together to solve the global crisis in affordable healthcare.

We as a community can do this if we are willing to work together for the united goal of understanding genetic disease in order to improve treatment and prevention options.  One step in this quest is to increase the value of clinical genetic information by making it more accessible to patients, physicians, medical researchers and advocacy groups.

Sharing clinical genetic information has the power to help everyone. For future patients, it will help them obtain a reliable, timely diagnosis. For physicians, it will enable more choices of laboratories offering testing with a broader range of support services. It will help create a free market in molecular diagnostics that drives down the cost of testing. For the medical research community, it will help scientists to quickly identify new clinical variants and perhaps formulate hypothesis for therapeutic strategies. Even the insurance industry will benefit.  If we can diagnose disease better, faster, cheaper, and get patients improved treatment early on, this has huge implications for reducing costs to the healthcare system.

-Randy Scott, Invitae