Motivation and dangers of sharing personal genetic data in the open space
Last Updated on May 18, 2017 by Joseph Gut – thasso
18 May 2017 – According to a paper just published in PLOS One, research team from the University of Zurich found that individuals who agree to openly share their direct-to-consumer (DTC) genetic testing data are apparently most interested in learning more about themselves, followed closely by an interest in advancing medical research. Very surprisingly, health related issues seem not to be a primary motivation for DTC genetic test results sharing in (a) open resource(s) such as, for example, openSNP.
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. Furthermore, they noted that, surprisingly, health, even though prominent, did not seem to be the respondents’ primary or only motivation to be tested and share their data. Several areas were specifically articulated by the respondents (ancestry, scientific curiosity, health, contributing to research, nutrition); in fact, 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 found that among survey respondents, there was no significant gender divide, the age distribution was broad, the educational background varied, and respondents with and without children were equally represented.
A word of caution might be appropriate here, however. According to the research team, 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. This last notion is a very very important one. Sharing the individual genetic data in or to a research environment is one aspect; being tested in a way that genetic data become actionable in the sense that health and disease (i.e.,therapy) relevant decisions can be based upon is another, largely beneficial and some times even life-saving aspect. Thasso Post just had an article on the giant leap in direct-to-consumer theragenomics (DTCT) taken by the approval of the first direct-to-consumer Genetic Health Risk (GHR) tests from 23andMe as a point in case. In the upcoming age of lifeomics, however, where the use of personal genetic data begins to penetrate every aspect of the daily like of an individual human being, there might be a fine line to be drawn between privacy of genetic data and the urge to make them publicly available. Currently, it is far from clear, who would have access to these data in the open space. Indications as to how genetic data might (also) be used comes from a very recent announcement by GWG Holdings (GWGH) who is intending to use “epigenetic DNA-methylation based prediction of mortality technology” for optimising their life insurance business (see also the article in thasso post). What if, for example, health insurance companies also start to use openly available genetic data to optimize their business? At what point would such approaches become discriminating against individuals with certain un-favorable genetic and/or epigenetic personal profiles? Would there be individuals who simply could not obtain health and/or life insurance? It appears that there remain some fundmental questions to be resolved, bevor widespread placing of personal genetic data in the open space should become reality.