NEW YORK (GenomeWeb) – A research team, led by researchers from the University of Zurich, has found that individuals who agree to openly share their direct-to-consumer genetic testing data are most interested in learning more about themselves, followed closely by an interest in advancing medical research.
The researchers wrote in a PLOS One paper published this week that despite major advances in genomic research, there are "numerous technical, legal, and ethical bottlenecks" that prevent researchers from exploiting genomic data. Difficulties in sharing genetic data are chief among these issues, but another is that most genomic and clinical data are "still generally collected and studied in silos: by disease, by institution, and by states," the researchers added.
To try to further the community's understanding on how to get individuals interested in sharing their genomic data more broadly with the research community, the research team conducted a survey of 550 individuals who had contributed their genetic data to the platform openSNP, a non-profit effort that allows individuals to contribute diverse sets of genetic test results, along with phenotypic annotations about themselves. OpenSNP accepts genomic data from a variety of DTC genetics companies, but the surveyed individuals contributed data primarily from 23andMe (412 users) with the rest coming mostly from Ancestry.com and Family Tree DNA (about 80 users each). The survey asked participants questions about their primary interest in undergoing DTC- genetic testing, if they made lifestyle changes based on their results, motivations for sharing data, and demographic information, among other things.
The researchers noted that the majority of contributors were from the US, although there were contributors from Canada, the UK, Australia, France, Switzerland, Russia, Italy, and a few scattered across 41 other countries on all continents except Antarctica.
"Our results suggest that health, even though prominent, did not seem to be the respondents' primary or only motivation to be tested and share their data," the researchers wrote. "While several areas have been specifically articulated by the respondents (ancestry, scientific curiosity, health, contributing to research, nutrition), ancestry was most commonly mentioned in answers to questions on why users got tested in the first place and decided to share their data on openSNP."
In fact, about 46 percent of respondents reported ancestry as the primary reason to be tested, closely followed by an interest in health (about 42 percent), while some respondents said they were interested in contributing to genomic research (about 14 percent). Consistent with similar DTC consumer evaluations conducted by organizations such as the Personal Genomics Study Group, there was a small group of respondents that reported a medium or large improvement (19 and 9 percent respectively) to their health or lifestyle. However, the majority of respondents reported making no or little lifestyle change.
The researchers also noted that the largest motivation for sharing respondents' genetic and genomic data to openSNP was to learn about themselves (about 86 percent). The second reason was to contribute to medical research (about 80 percent), followed by a desire to improve predictability of genetic testing (about 76 percent) and believing that it would be fun to explore genotype and phenotype data (about 75 percent).
The researchers also found that among survey respondents, there was "no significant gender divide, the age distribution was broad, educational background varied, and respondents with and without children were equally represented."
Additionally, the researchers noted that most respondents were aware of the privacy risks involved in open genetic data sharing. The individuals considered the possibility of direct personal repercussions troubling, but estimated the risk to be negligible.
"Our findings support the call for a broader and multi-faceted conceptualization of genomic utility, one that pays due attention to the value users attach to being tested and to sharing data also in terms of contributing to the common good of research or seeking connection to other people and places," the researchers conclude.