Should research subjects be given their genetic test results? A paper recently published in The American Journal of Human Genetics considered the ethical issues related to returning genetic testing results to people who have participated in research experiments.
There is a growing number of research projects that use next-generation DNA sequencing to determine the sequence of the DNA nucleotides (ATCGs) in a person’s entire genome. Next-generation sequencing is a new technique that allows DNA sequencing information for an individual to be gathered very quickly. Previously, only certain chosen areas of a person’s genome would be sequenced for a research study due to time and efficiency constraints. Now, however, with the efficiency of next-generation sequencing, it is cost- and time-effective to sequence everything, meaning all the DNA of that person.
The ethical dilemma that results from this is the fact that the research scientist now has information about all of the research subject’s genes, and there may be something in their genetic make-up that would be medically significant for that person. The question is, since the research scientist may now have some troubling information about the research subject’s genes, should they tell the person? Or should they tell the person’s doctor?
Two groups have been charged with coming up with strategies to deal with the question of whether research subjects should be given their genetic test results. The Clinical Sequencing Exploratory Research Consortium (CSER) and the Electronic Medical Records and Genomics Network (eMERGE) have come up with some areas of consensus regarding this question. They have agreed that an important point regarding the return of genetic test results is whether or not the research subject consented to the return of their genetic information. If the person consents to receiving this information, through the informed consent process, then they will be given the information and also a referral for appropriate clinical treatment. If the person does not consent to receiving this information, then they will not receive the results from their genetic tests even though their health might be threatened by having certain genes or DNA sequences.
The report went on to say that researchers should not feel obligated to search for areas of DNA sequences or genes that might be of medical concern to research subjects. They are under no ethical obligation to actively search for any medically-relevant genetic information beyond the interests of the study. The study states that clinical research is distinct from medical care in both its aims and guiding moral principles.
Another question that has resulted from the ability to use next-generation DNA sequencing is where to store all this information. A recent article in The Wall Street Journal reported that Google has announced it has agreed to house the complete genome data from 10,000 research subjects who participated in studies on autism. This database is part of the AUT10K, the Autism Speaks genome-mapping program. A major concern related to the storage of this information is security. Who will have access to this information? What is the potential for a research subject’s DNA information to be misused or mishandled when the DNA data is in the “cloud”?
The question of whether research subjects should be given their genetic test results, given the new developments in the ability to use next-generation DNA sequencing, may be the tip of the iceberg. It could be just the first of many questions which will need to be considered in the near future.
By Margaret Lutze