As the American Society of Human Genetics concluded its 65th annual meeting in Baltimore, the air around the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine still seems to buzz with the excitement of it all. Among the plethora of innovative research and technologies presented, the society devoted some focus to those entities whose existence is at the core of science, medicine and research: the patient, the participant the individual.

The meeting officially convened with a most unusual opening Presidential Address by Neil Risch. In the past, society presidents opened with stories of the past progress and current advances, and concluded with sweeping encouragements for the next wave of researchers. Instead, Risch took the spotlight as an opportunity to highlight some difficult issues that are often avoided. He brought to light the challenges of defining family, race and gender in the context of the modern genomic era. As genome sequencing and gene editing are becoming even more rampant, he stressed that it is truly paramount that we as a society consider how our definition of an individual can profoundly affect the treatment and outcome for that person. Risch decidedly went against the grain, committed to “going for broke,” and the result was an eye-opening address that stirred the conversations throughout the conference.

Baltimore Inner Harbor

The theme of refocusing on the individual was reflected in other prominent sessions throughout the meeting. In particular, Francis Collins, director of the National Institutes of Health, reported on the progress and goals of the U.S. Precision Medicine Initiative, a project aimed to advance the pursuit of individualized medicine. Collins outlined some challenges of the initiative, such as enrolling 1 million volunteers for the project, devising systematic sample collection protocols across all participating clinics, and creating and maintaining biobanks to store the huge amounts of samples and data. Notably, Collins stressed that one of the biggest goals of the initiative will be to redefine the participant-researcher relationship, a shift toward viewing participants as partners and not just as data points in a study. To that end, all of the initiative’s research will be made transparent, and all results will be returned to participants in accordance with their preferences.

Is transparency enough, though? As a breast cancer “previvor,” Andrea Downing of Brave Bosom spoke about how research participants are in need of more than simply raw information. She recounted receiving research surveys and results that were generally indecipherable, as if in a completely different language. Oftentimes she was left to educate herself on the meanings of the reports, as genetic counselors were sparse and her doctors were ill-prepared or short on time. As an active member of a community that wants to further research, she implored researchers and clinicians to re-evaluate how results are disseminated to the participants. In addition to receiving reports, the participants also have the right to understand the full implications and significance of their results. Her message was simple and echoed that of Collins: Treat patients as partners, not P-values.

With the advance of the genome era, we are faced with many opportunities that are opposed by as many challenges. The society this year brought home how exciting it is to be part of such progress, and how very humbling it is to be reminded of the participants at the other end of our research.

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