The Highly Engaged Patient

How the Precision Medicine Initiative is creating the ultimate opportunity for participatory medicine.

Most of my career as a genome scientist was focused on finding genetic variants related to diseases in population cohorts, that is, defined groups of well-characterized human subjects. These cohorts are invaluable resources for health research, but expensive and time-consuming to assemble. They require careful design, recruitment of willing participants, measurement and collection of health data, collection and storage of biospecimens, and follow-up. The Framingham Heart Study is perhaps the oldest and most famous cohort, producing the first evidence linking cholesterol levels and other risk factors to heart disease, for example. It shouldn’t come as a surprise that researchers who manage to get funding (typically from the government) to collect such cohorts tend to guard them closely.

More than a decade ago, the National Institutes of Health (NIH) began requiring researchers receiving federal funding of $500,000 or more for their cohorts to share the data collected (securely, of course) with other researchers — or to provide a very good reason they couldn’t. This was a step in the right direction to both maximize the return on investment of our tax dollars and democratize science. While exciting to researchers like me, I’m sure the study participants were unfazed by this data-sharing policy. After all, their involvement in the research was usually one-way — donating their data and specimens to science, with perhaps a periodic newsletter in return.

Last September, the NIH released a report from a special working group tasked with developing a plan for creating and managing a one million person cohort in the U.S. This proposed cohort is the cornerstone of the U.S. government’s ambitious Precision Medicine Initiative (PMI). It rivals all other cohorts, national and international, in both number of subjects (England’s national genomics cohort is a mere 100,000) and breadth of data to be collected.

So why should you be excited about the PMI cohort?

First and foremost, the working group recommends that anybody interested in participating should have the opportunity to do so. Typically the composition of research cohorts is determined by the investigator and is limited by geographic region or some other characteristic of the researcher’s choice. The PMI cohort would be open to anyone, anywhere in the U.S., who is willing to provide health data, specimens, and agree to be re-contacted.

Second, the PMI aims to obtain a representative cohort of the U.S., reflecting diverse ethnic, racial, social, economic, age, and sex groups. Cohorts used for most of the research on genetics to date have been predominantly higher socioeconomic status adults of European ancestry. Children and the elderly have been underrepresented, as have the poor and ethnic minorities. Underrepresented groups like the Amish, who are disproportionately affected by some genetic diseases, will have the opportunity to be part of this cohort. You can read about one man’s effort to bring precision medicine to the Amish community in “Clinic in a Cornfield” (page 40).

Third, the cohort is meant to be a public resource, accessible to researchers, including citizen scientists, for conducting appropriate and ethical research. Do you fancy yourself a citizen scientist? Do you have a burning question you’d like to ask of the data from one million citizens? The working group envisions that there will be community-facing tools to allow easy yet secure access to de-identified core data elements, as well as a data coordinating center offering analysis services.

Fourth, participants should have access to their own data collected during the course of the study. In our story “Alternate Route” (page 36), you’ll read about the growing number of curious consumers already accessing their health data through direct-to-consumer laboratory tests to monitor their health. PMI cohort data that is proposed to be available to participants include data extracted from the electronic health records, laboratory test results, molecular analyses (I’m curious whether genome sequence data will be included), and data from wearable sensors and other apps collected on participants’ mobile devices. Don’t have a mobile device? Smartphones could potentially be made available to all cohort participants!

The value of the PMI cohort for health research is evident. Common, complex diseases like asthma, heart disease, schizophrenia, and others are usually the toughest nuts to crack without large, well-characterized patient cohorts. You can read about advances in precision medicine for diabetes, another common, complex disease, in “Pinpointing Diabetes” (page 58). Skeptics of precision medicine have questioned, rightly so, whether the human genome plays a big role in these diseases. But precision medicine takes into account not only variability in genes, but environment and lifestyle as well. The PMI cohort considers all of these factors, giving researchers the ultimate resource to untangle these complex diseases.

Beyond research, the PMI cohort signals a shift in how the research community interacts with study participants — a move toward participatory medicine. For the first time, we have a research study designed around core values of respect for individual autonomy and rejection of paternalism. A public opinion survey by the NIH indicated that 90 percent of respondents would be motivated to participate in the PMI cohort if they could learn about their health information.

So, for all of you ready to step up and engage with your health like never before, here’s your opportunity.