Patients Should Receive Study Results

For decades, researchers avoided sharing genomic results with study participants. It’s time to change this policy.

When I was a human genetics graduate student in the 1990s, we would occasionally extract our own DNA and use it as control samples in sequencing experiments. Sure, we could have ordered control DNA from a commercial supplier for fifty bucks ( rip-off ), but if someone had misplaced it or used the last of it without ordering more, it was helpful to have another source at hand. So we grew our own.

Did we ever think twice about routinely sequencing tiny bits of ourselves? I doubt it. Our self-derived, manually sequenced samples were not going to produce the data we needed for publication and graduation. That said, there was an illicit thrill in self-experimentation. It was my DNA in one lane on that gel and yeah, it meant something — even if it was only an allele or two and even if I didn’t know exactly what it meant. Maybe I would someday.

A few years later, Craig Venter marshaled an army of ABI 3700 DNA sequencers and began sequencing the first diploid human genome. In 2002 he revealed that much of that genome was — gasp — his own. I remember feeling confused when the editor of Science called this “tacky.” Venter’s behavior was the kind, he said, that “eat[s] away at the sense of community, shared understanding, and public trust that are crucial to science.”

Oh, please. I was not always a fan of Venter’s Donald-Trump-On-A-Yacht-With-A-PCR-Machine public persona during the Genome Wars. But was that a reason to begrudge him the opportunity to examine his own genome? Thank God no one had ever told Science about the tackiness gone wild in our little lab.

I was an early, publicly identifiable genome “sequencee” and research participant, so I can hardly claim to be objective. That said, while the editor of Science understood the norms of the day, he was on the wrong side of history. Anonymous and even highly de-identified human genomes (do such things still exist?) are extremely unlikely to build community or public trust. And without detailed trait information attached to genomes, they will never lead to shared understanding of very much at all.

Today, amid much talk of precision medicine and an ethos of partnership, we are still wringing our hands about whether it’s okay for people — most often, ordinary research participants rather than genome moguls or opportunistic genetics graduate students — to have access to their own genomic data. While tackiness is rarely cited as an objection to sequencing oneself or returning DNA results these days, many of the traditional arguments remain: worries about compromising participant privacy, concerns over genetic exceptionalism, the “my lab isn’t certified” or the “my review board will never allow it” arguments (touché!), and a presumption that people are (and always will be) too stupid and too fragile to understand the limitations and the “danger” of genetic data.

A recent report from the Precision Medicine Cohort Working Group states that the president’s Precision Medicine Initiative (PMI) “should ensure the responsible return of personal results and information to individual participants.” Unfortunately this is immediately followed by a laundry list of caveats and constraints specifically related to genomic results, describing their return as “a challenge,” “frustrating,” and expensive.

I’ve written about many of these concerns elsewhere, so here I will only say that most research participants — myself and the people I study included — are mostly underwhelmed by them. We have already given of our time, tissues, and tax dollars. You get to learn about us, Dr. P.I. (that’s Principal Investigator), so it seems both intuitive and only fair that we should get to learn what you’ve learned, however uncertain. And while you might think of sharing as a liability, many of us see it as an opportunity to help: There is a growing list of parents of undiagnosed children and undiagnosed people themselves who have done their own digging and their own crowdsourcing and helped to find real, clinically valid answers about their families’ conditions.

“Yes, but.” I know, I know: You don’t have the resources. And it’s not just an excuse. You would like to return results, but you lack the expertise, time, and money. You lack incentives. I could not agree more.

This is why, in a recent issue of Nature Reviews Genetics, I called for the creation of incentives to accompany the PMI that could encourage genomic researchers to share data (maybe curated, but probably raw) with the people they study. I would like to see a sandbox, of sorts, where researchers are given a palpable reason — or maybe millions of reasons — to experiment with ways to say yes to curious participants. This could take any number of forms: financial incentives akin to the ones that let grant applicants build in the cost of publishing their work in open-access journals; a requirement for “stakeholder engagement” embedded in genome/exome-based proposals; and the creation of participant advisory boards similar to the patient advisory boards that are a routine part of many health systems.

A few places (for instance, Geisinger Health System, the Children’s Hospital of Wisconsin) now return results, despite a lack of external incentives. And the growing recognition that families undergoing large-scale sequencing do not fit comfortably either in the “research” or “clinical” categories will, I hope, continue to move the needle toward more sharing. But we have a long way to go.

The idea is not new. Environmental researchers have been doing this sort of thing for decades: They call it “community-based participatory research.” Their culture explicitly provides for having researchers return to the communities where their “subjects” gave of themselves and sharing what they’ve found, often in specific houses.

An undue burden? Tacky? Sorry, but I don’t see it. I see a chance to cultivate community; foster shared understanding; nurture science, technology, engineering, and math (STEM) education; and build public trust.