Scientists shed light on the motivations of healthy people seeking personal genome sequencing

Whole genome sequencing is a technology that enables scientists to read the order of the chemical bases or letters (As, Cs, Gs and Ts) that make up an organism's particular set of DNA (their genome). This data can provide insights into an individuals' disease risk, medication safety and efficacy, and their ancestry. As the costs of the technology continue to fall, it is anticipated that genome sequencing will become widely available, and that many hundreds of thousands, eventually millions, of people will have access to their own genome sequence data. In anticipation of this wide availability, there is a need for better understanding of people's expectations about the technology, how best to educate and communicate results to recipients, and the clinical and psychosocial impact of the results.

"As we transition to a new era of precision medicine, where personal whole genome sequencing will be as routine as MRIs and blood tests are today, we see a critical need for research to better understand the mindset of individuals and to learn how best to share this information with patients in the future," said Eric Schadt, PhD, Founding Director of the Icahn Institute and Professor of Genomics at the Icahn School of Medicine. "We seek to take the complex data generated by whole genome sequencing, and translate it into meaningful and valuable insights for individuals."

The HealthSeq project at Mount Sinai provided personal whole genome sequencing to 35 ostensibly healthy individuals, returned personal genomic results to them, and then tracked them over time to see how the experience had affected them. The types of personal results that participants could receive included their risk of type 2 diabetes, heart disease, and Alzheimer's disease, pharmacogenomics (how they respond to medications), carrier status, physical traits, and ancestry.

The first findings from the HealthSeq project were recently published in the European Journal of Human Genetics. The paper reports on participants' motivations, expectations and concerns recorded via a questionnaire and in-depth interview conducted during their first appointment, and on the data-sharing choices they made during informed consent. One of the key findings was that, in addition to the expected health-related motivations, many HealthSeq participants were motivated by curiosity about themselves, their ancestry, and the underlying science.

"Human beings are inherently curious about themselves," said Saskia Sanderson, PhD, a research psychologist and Adjunct Assistant Professor at the Icahn School of Medicine, and joint first author on the paper. "Our findings suggest that some people will seek out personal genomic information about themselves, regardless of whether it's viewed as clinically useful or medically actionable," she said. "In the medical and scientific communities, there is considerable debate about the potential utility, or lack thereof, of personal genome sequencing for preventive or predictive purposes. But if people are going to seek out this information regardless, we need to start figuring out how -- not whether -- we are going to do this."

Despite their enthusiasm, over half of the participants in the HealthSeq research project had privacy concerns, and only one third consented to having their genomic data shared with the NIH-sponsored Database of Genotypes and Phenotypes (dbGaP). The fact that so many of these 'early-adopters' were not enthusiastic about sharing their data widely, may come as a surprise to some advocates of personal genomics and open data sharing. "The finding that participants in our study had considerable concerns about protecting their privacy and their data, despite being enthusiastic early adopters of this new technology, is important at this time when data-sharing is so vital to accelerating scientific progress," said Michael Linderman, PhD, Assistant Professor at the Icahn School of Medicine, and joint first author on the paper.

The HealthSeq project is the first of its kind to offer people personal whole genome sequencing, personal genomic information including both health-related results (e.g. disease risk) and non-health-related results (e.g. ancestry), and also their raw sequence data. The findings provide new insights and suggest testable hypotheses for future larger studies. "With a sample size of 35 individuals, this was a small study," acknowledged Dr. Sanderson, "but by focusing initially on this small number of participants, we've been able to get really in-depth insights on how the participants have been thinking, feeling and acting throughout this process. We are now collaborating on a multi-site project with investigators at other institutions to examine whether the hypotheses generated by HealthSeq hold up when tested in much larger numbers of individuals who have had personal genome sequencing via several different initiatives."