Saul Kaplan: Has Personalized Medicine Finally Arrived?
Wednesday, February 25, 2015
On 2/19/2015 the FDA approved a single direct-to-consumer genetic test from 23andMe for Bloom Syndrome, a rare, terrible, and untreatable recessive gene disease that causes a predisposition to develop cancer. The average lifespan for those diagnosed with this rare disease is 27 years. Bloom Syndrome hits close to home for me because 1 in a 100 Ashkenazi Jews (of European descent) are carriers and 1 in 50,000 will actually have this devastating disorder. The FDA picked a clear and compelling case as a precedent for direct-to-consumer genetic tests.
Is ignorance bliss? Do we want to know this information? If we learn we carry a genetic disease, what do we do with the knowledge? How does it affect our plans for having children? Do we tell our children? These are incredibly difficult and personal choices. I was moved to tears by the scene in Still Alice where, after Academy Award winner Julianne Moore learns that she has a rare form of familial Alzheimer’s disease, she informs her children. Not a dry eye in the house. Each of Alice’s three children has a choice on whether to be tested and the youngest daughter, Lydia, decides she doesn’t want to know. I still have the chills.
There is no getting this genie back in the bottle. Now that the FDA has created a path to approve the first direct-to-consumer genetic test we can expect more approvals to follow.
Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health
Approvals will come slowly at first but then more quickly as the FDA is satisfied that tests are both reliable and more importantly that any interpretation of the results are validated. 23andMe jumped the gun in 2013 and had their wrists slapped by the FDA for selling consumer test kits prior to establishing a validated basis for interpreting test results. The proliferation of direct-to-consumer genetic tests is inevitable and right. We have a right to access our own information and to decide for ourselves if and when to access it.
Yet so many important questions remain. How do we best help and support consumers to make sense of and evaluate choices based on personal genetic data? How do we protect the privacy and security of personal genetic data when all we hear every day are stories about hackers and corporate interests trying to monetize our personal data? How will health care provider and payer’s roles change, as consumers are increasingly better informed with their own genetic data? How will we ensure that genetic information is both accessible and affordable for all, not just the wealthy few? How will direct-to-consumer genetic information disrupt existing pharmaceutical and medical device business models? What new business models are possible and needed in an era defined by personalized medicine?
One thing is certain, there will be more data than useful information, more noise than signal. We talk a lot about big data, most of which is our personal information. Hard to imagine a data set bigger than the amount of data stored in our bodies. My head explodes when we start talking zettabytes and yottabytes! As we enter this brave new health care world it is important to remember that the data is ours and as individuals we need to be at the center of how it is accessed and used. Just because technology is an important enabler doesn’t mean tech companies should own and control our genetic data. Social media posts, Google searches, and Amazon purchases are one thing, our personal genomes are entirely another. We must pay attention before our genomes head off to the cloud.
Saul Kaplan is the Founder and Chief Catalyst of the Business Innovation Factory (BIF). Saul shares innovation musings on his blog at It’s Saul Connected and on Twitter at @skap5.
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