Editor's Note

The Big Reveal

By getting my genome sequenced, I’ve gotten to know myself in a whole new way.

By Jeanette McCarthy, MPH, PhD

BASED ON FAMILY history, many of us intuitively know what information our genome contains. For some, the thought of having their genome sequenced to confirm suspicions is frightening. But for me, since I had no significant family history of major diseases, the thought was exhilarating. When I got back my genome sequence, I felt no apprehension, just curiosity.

What would I look at first? I started by reviewing the genes responsible for drug metabolism. Knowing this information could help me avoid side effects and increase the efficacy of drugs I might take. I found that if I take a statin, I have an increased likelihood of developing muscle aches. I also discovered that I might require a higher dose of antidepressants or antimicrobial drugs should I ever need them.

After making a note of these (and wondering how I would actually relay that information to my doctor the next time I saw him), I moved on to disease-associated genes. I found I had some variants in disease genes, but it wasn’t clear if they were harmful because they hadn’t been reported before. I chose to ignore these wholesale, until further information is available.

Then I stumbled upon something intriguing. I found a variant that increases my risk of sudden death from a type of abnormal heart rhythm called long QT syndrome. I researched what was known about this genetic variant. It turns out the variant has been seen before and is associated with long QT syndrome in some people, but not others. Next, I checked to see if I had passed it down to my kids, and I hadn’t. Certain that neither I nor my family was in imminent danger, I relaxed. In fact, I began to think of it as an asset. If you have to go some way, wouldn’t it be great to go suddenly?

Surprisingly, after only a few days, I lost interest in my genome. However, I did grasp its potential impact for others.

For example, if I were a prospective parent and had learned that I carry a cystic fibrosis mutation, I would realize the power of my genome. If I suffered from depression and discovered I had a variant that allowed me to normally metabolize a recommended antipsychotic drug, I would realize the power of my genome. If I had been a child with an undiagnosed disease and sequencing found a mutation, I would realize the power of my genome. If I had a strong family history of breast cancer and sequencing found a mutation in BRCA1, I would realize the power of my genome. If I had cancer and sequencing my tumor led to the right treatment, I would realize the power of my genome.

But, I am none of these. Since I am a healthy, middle-aged woman with no significant family history of disease, the power of my genome is in the comfort of knowing that I don’t carry variants for inherited cancers and other scary diseases. Despite the current limitations of sequencing, I’m glad I had it done and, truth be told, I felt a sense of entitlement to the information that my genome contains. To me, the idea that healthcare consumers can’t handle their own data, especially something as personal as their genome, is unsettling. More and more people seem to want access to their primary health data and are not content with a pre-filtered interpretation from their doctor.

To me, the idea that healthcare consumers can’t handle their own health data, especially something as personal as their genome, is unsettling.

In this issue of Genome, we talk with Eric Topol, the director of Scripps Translational Science Institute and a member of Genome’s advisory board, about his new book, The Patient Will See You Now (“10 Questions,” page 62). The book portrays highly engaged healthcare consumers and their increasing role in the democratization of health care.

In this issue, you can also read about the recent changes in the regulation of genetic testing proposed by the Food and Drug Administration, triggered in part by fears about the safety of direct-to-consumer genetic testing (“The Regulation Debate,” page 34). These two stories capture the essence of the current struggle in health care between personal responsibility and paternalism.

On the one hand, we are expecting patients to play an increasing role in managing their health. But on the other hand, we don’t trust them to understand the limitations of the data or to make rational decisions without having information filtered through a physician. While some patients still prefer their doctors to make all healthcare decisions, many are realizing that they are their own best advocates and stewards of their health data.

At a recent Key Opinion Leaders summit I attended at Illumina, a sequencing company, we discussed how to foster responsible stewardship of health data among consumers. We proposed that this could be achieved through education, access, and action. Don’t wait until you’re sick to begin to collect, aggregate, and track your health information. Get curious about which data are rightfully yours.

In “Who Owns Your Data?” (page 18), you can read about new laws providing patients with access to laboratory data, and also about one woman’s struggle to directly receive data from an implanted device to monitor her heart condition. Surveys show that a quarter to a third of consumers track their health information. About half of physicians have portals to share data with their patients, but patient engagement through those portals is surprisingly low. There is no perfectly integrated IT solution right now, but apps like the new Apple HealthKit interface, with various fitness trackers and mobile health tools, allow you to carry and track your vitals, exercise, diet, and other measurements on your mobile device. Finally, share your data, knowledge, and experiences with your healthcare provider and begin to view your relationship as a partnership.

This is just the beginning. In the future, wouldn’t it be great to carry your genome with you on your mobile device and be able to receive updates as new discoveries are made about the variants you carry? In “A Newborn Challenge” (page 22), you will read about the BabySeq project and the implications of sequencing at birth. How will personal health responsibility shift when we are given our genetic predispositions at birth?

I can’t wait for the day when I go to my doctors for routine care and they ask me not only about my family history, but about my genome as well!