HealthSeq Study Offers Healthy New Yorkers Whole Genome Sequencing
By Bio-IT World Staff
July 7, 2015 | Whole genome sequencing is still a rarity for both the healthcare system and the general public, but the opportunities for ordinary people to explore their genomes, whether in a medical context or just out of curiosity, are growing. As academic medical centers scale up their sequencing power, and companies release commercial genomic tests for ancestry and health indications, researchers and policymakers have a pressing need to know what kinds of genomic information the public is likely to seek out.
Studies like the NIH-driven ClinSeq and Boston-area MedSeq projects have offered patients genome-wide sequencing, to learn whether the information they gain can affect their long-term health or lifestyles. Today, the BabySeq project has even begun to ask what health outcomes can be expected when newborns have their whole genomes sequenced at birth.
“This is coming,” says Saskia Sanderson, a professor of genetics at the Icahn School of Medicine at Mount Sinai in New York. “Personal genomic information simply is going to become more and more available. We have to focus on finding ways to do this right, and to do it right for as many people as possible.”
Sanderson is a lead author of a paper published this June in the European Journal of Human Genetics, which described findings from HealthSeq, another project aimed at gauging reactions to whole genome sequencing. In the HealthSeq study, 35 individuals with no pressing medical reason to have their DNA tested were offered whole genome sequencing through the Icahn Institute of Genomics and Multiscale Biology, and were interviewed about medical, privacy, and security concerns before and after receiving their data.
While HealthSeq is in many ways continuous with past projects, Mount Sinai made an effort to include volunteers from groups that have so far been underrepresented in studies of genome sequencing. “We did want to recruit people from a wider range of backgrounds, who were not just the wealthy people who could afford to spend thousands of dollars doing this, or who could do it because they are scientists themselves,” says Sanderson. “We wanted to get more women involved, and people from a wider range of backgrounds.”
These goals were only partly met: over 70% of participants were white, all had at least a bachelor’s degree, and almost half reported household incomes of more than $150,000 a year. Nonetheless, the participants in HealthSeq were somewhat more representative of the country as a whole than has been the case in past studies ― in particular, because the study featured more women and fewer subjects employed in healthcare.
By offering information on non-health-related traits like ancestry, the HealthSeq researchers hoped to learn about a fuller spectrum of the genomic testing available to Americans than past projects have been able to consider. A major aim of HealthSeq was to get a qualitative sense of the motivations people had for pursuing genomic testing. Subjects were asked to describe their reasons for agreeing to the study and what they hoped to learn about their genomes. Both simple curiosity and possible medical benefits were cited by large majorities of participants, although relatively few had clear ideas of what kinds of information might emerge from the process.
“People didn’t know what to expect,” says Sanderson. “They wanted to know more about their health, but in many ways that was quite a vague desire.” While roughly a third of participants mentioned a family history of disease that they felt genomic testing might help to illuminate, only a small minority named specific ways in which their genomes might guide medical decisions ― for instance, by informing drug prescriptions, or helping to make a future diagnosis.
Similarly, while a quarter of participants were concerned that some findings might be psychologically difficult to deal with, few volunteered specific kinds of results that they thought could cause them distress, such as risk factors for untreatable diseases like Alzheimer’s.
“You don’t know what you don’t know,” says Sanderson. “People can’t necessarily predict what results they’re going to get, and that is clearly an important consideration.”
In many ways, the results from the open-ended interviews with participants seemed to reflect general popular knowledge of genomics, rather than considered personal opinions of which aspects of whole genome sequencing were most interesting or worrisome. Most subjects thought immediately of medical implications, and many mentioned ancestry information, two aspects of genetic science that get regular media coverage. By contrast, only three participants brought up concerns about the privacy of their data during their interviews, although previous studies with guided questionnaires had indicated that this was a major concern.
It seems likely that this finding reflects a lack of public knowledge about possible ways genomic data could be misused to violate individuals’ privacy. When the HealthSeq participants were later given structured questionnaires that listed possible concerns, privacy became the most cited source of anxiety, with over half the members of the study agreeing that they had “concerns related to potential privacy issues about my data.”
The discrepancy between people’s prompted and unprompted concerns could support the need for genetic counseling and other educational measures for individuals considering having their genomes sequenced. “To make an informed decision about doing this, you need to know about the potential benefits of this technology and the limitations, but you also need to know about the potential risks,” says Sanderson. “This is very complex information to communicate.”
The HealthSeq study also provided some interesting findings about attitudes toward genomic data sharing. Nearly half the participants, during their interviews, said that they hoped to contribute to research by having their genomes sequenced. However, when asked whether the Icahn Institute could deposit their genomic data into dbGaP, a common database for scientists to share and access genomic information for research, only a third of participants agreed. The more restrictions the researchers offered to place on data sharing, the more subjects agreed to participate: 60% were willing to let Mount Sinai share their data with collaborators for research related to HealthSeq, the same number allowed Mount Sinai to use their data for unrelated research, and over 90% were comfortable with Mount Sinai storing their data and using it internally for future HealthSeq-related studies.
A notable finding of HealthSeq is that, among people who seek out genome sequencing, the appetite for knowledge about their genomes is omnivorous. Despite worries about the psychological consequences of testing, 33 of the 35 participants chose to see all results of testing, not blacking out unactionable information like Alzheimer’s risk or variants of uncertain significance. In fact, for each type of result the researchers asked about, from pharmacogenomics to non-health-related information like ancestry and eye color to the most sensitive health findings, over 70% of participants answered that they would “definitely” want to see the results.
Scientists at Mount Sinai will continue to analyze the responses provided by HealthSeq participants ― and more importantly, to track their health outcomes over time. For now, however, the study has provided a new source of information about the ways in which genomic testing is likely to be adopted as it becomes more widely available.
“This is a small study,” says Sanderson, “but even today with the cost of genome sequencing being so much less than it was 15 years ago, it’s still a significant thing to have done. We have really in-depth information on what the experience was like for [the participants].”
Saskia Sanderson also spoke with us about the promise and pitfalls of out-of-pocket genomic testing, as new companies like Color Genomics have appeared selling affordable tests online. You can read the whole story, “A Colorful Business,” in our partner publication Diagnostics World.
