The Path to Personalized Healthcare in Step with Regulatory Oversight

23andMe co-founder Linda AveyThe California Department of Public Health has made headlines in the past few weeks with its effort to rein in direct-to-consumer genetic testing companies. We were one of 13 companies who received a cease-and-desist letter from the department, to which we’ve responded (more on that here).

We agree that this evolving field of personal genomics is in need of proper regulatory oversight. While our mission to provide accurate and contextual information to our customers about their genetic information is aligned with the regulatory mandate to protect the public health, we also want to ensure that efforts to rein in our industry do not hamper the potential benefit of genetic knowledge to our health.

Most recipients of healthcare–those of us who are lucky enough to have health insurance or other means to pay for health-related services–recognize that it cannot remain one-size-fits-all. Whether you’ve had a bad reaction to a drug or felt that your physician’s diagnosis didn’t hit the mark, it’s clear that our healthcare system has a long way to go before we advance to a more personalized approach. Genetics could move us toward that goal by revealing the roots of common diseases, providing the basis for more accurate diagnostics and giving doctors information about how a patient may respond to a particular drug or treatment.

The blood-thinning drug warfarin (Coumadin) is a great example of how far doctors are from using genetics in their practices. Right now physicians typically prescribe a standard dose for all patients. Then they closely monitor each patient through blood tests to make sure the dose isn’t too high (which could cause excessive bleeding and other complications) or too low (allowing clots to form).

This trial-and-error process is costly and inconvenient; the hope is that it could eventually be supplemented with a molecular-based approach. Genetic studies have identified several genes that play a role in how individuals respond to warfarin. The FDA has even added language to package inserts suggesting that measurement of these genes could be used to help doctors determine dosage levels. But asking doctors to trust genetics requires a leap of faith that most are not willing to take, especially in the United States’ litigious environment.

What is needed is an on-going (prospective) study that follows thousands of patients on warfarin who are under-going blood testing AND who have been genotyped. By collecting drug response data on an on-going basis through accepted practices as well as examining the genetic profiles of these same individuals, evidence-based proof could be established that the medical community needs before they’ll trust genetic markers.

Now imagine this same scenario for pretty much every other drug on the market. Unfortunately, no existing mechanism can gather the massive amount of information needed to drive these studies.

This is the fundamental reason we founded 23andMe. Our first mission is to enable personal access to genetic information and provide a look, through the prism of an individual’s genome, at the flood of research discoveries being published. Our longer-term goal is to utilize a web-based platform that gives individuals the ability to share details related to their personal traits–including diseases they have and how they respond to therapies–uniformly layered on their genetic profiles to start building the evidence needed to drive targeted diagnoses and treatments.

It could take hundreds of thousands of people participating in these types of studies before true progress can be made in personalized healthcare. And these people need to come from a diverse population so that everyone, not just people of European ancestry, can benefit.

What better places than California and New York to engage large, diverse communities? We hope to work with the regulators in both states to demonstrate how our Personal Genome Service can become a viable means of translating genetic knowledge into the clinic. With appropriate regulatory oversight, we believe 23andMe can play a significant role.