Hello there bloggies! Welcome to Science Sunday!
Research using human subjects is an important partnership between the scientific community and the general population (or specific target population). Human subjects donate their time, data, and biospecimens to science in return for the development of better care and the search to better understand human health and disease.
Sometimes, during the course of these studies, data and/or insights are made that could possibly benefit the health of subjects. It could be related to the primary questions being investigated or they could be incidental findings come across during study protocols. Even more common data generated becomes informative to health care in the future after several more years of research.
For example, generating a massive amount of possibly meaningful data is common in genetic studies. The genotypes of hundreds of thousands to millions of genetic variants are detected. Some of these variants may currently or in the future have clinical implications or are associated with certain traits.
This brings up a very important question: should this large set of possibly meaningful genetic data be made available to human subjects in studies? I mean a person’s genetic code is his or her most personal possession. It is what makes you you. It is the actually code that makes you such a unique individual. Certainly you should have the right to access that personal information.
At the moment, full genetic results are not made available to human subjects in most studies. That is, unless the study is looking at the effects of genetic testing where a subset of genetic variants are made available.
Why are so few genetic variants released to individuals?
A large part of it is that we simply do not the health-related implications of most genetic variation. The American College of Medical Genetics (ACMG) has released a short list of variants that should be reported to human subjects. That list can be seen here. If a researcher finds that a subject has one of these variants, that subject and his/her physician should be notified according to ACMG guidelines.
But, what about the millions of other variants being investigated in genetic studies? Right now, these are largely not returned to subjects. Not only do we not know the implications of these variants, but also the interpretation of any genetic variant is difficult and requires a professional.
This is where I get weary of all subjects getting full genetic information after participation. The implications of genetic variation on any trait are just so complex and unknown for the most part. From working on human genetic research, trying to tease apart the consequences of a genetic variant is incredibly difficult. Asking a subject without proper training and guidance seems irresponsible. Subjects who do gain access need proper support form genetic counselors and medical geneticists to make sure proper care can be obtained and no undue anxiety is introduced.
But, individuals can get their full genetic results, and it is happening now. An example of this can be seen in 23andMe, a direct to consumer genetic testing company. 23andMe performs genotyping of over 500,000 genetic variants and makes this information accessible to its customers. I actually am a customer and have looked at my results (and am happy I did it). At the start, the reports generate had information describing possibly health implication of genetic variants. An example of one of these reports is below (more information is given in each report, just want to give you a taste).
As a human geneticist, I was able to interpret these reports, which actually are informative and easy to read, in the context of research and reach my own conclusions. But, not everyone has a PhD in Human Genetics and spends loads of their time thinking about these issues. Mechanisms within the health care system and in the research community are needed in order to ensure proper use of genetic information. Only then do I think full genetic results should be given to study participants.
Thank you for stopping by Science Sunday! What do you think about this issue? Would you want your full genetic results back as a participant? Researchers, would you want to give these results out? Let everyone know in the comments below or on twitter @DrFsThoughts.
See you all later! Or in the comments!