If your doctor recommended that you have your whole genome sequenced, you would likely have a lot of questions, including:
Where will my data be stored? Who will have access to them? Will they be secure? Can I control who sees the information gathered from my data? How will my information be kept private? Is having this information entirely a good thing for me? What kind of research might my data be used for in the future? Can I be identified from my data? What can happen to me or my family if someone like an insurance company or my employer gets a hold of this information?
Currently, not all of these questions have clear answers, but the Presidential Commission for the Study of Bioethical Issues believes you should be asking them.
While there are legal protections against the misuse of genetic information by employers and health insurers through the Genetic Information Nondiscrimination Act of 2008 (GINA), there are currently no other broad protections against misuse of genetic information and the laws regulating who has access and how this information can be used varies from state to state. For example, GINA does not apply to long-term care insurance or life insurance.
The recommendations in the Commission’s recent report Privacy and Progress in Whole Genome Sequencing are aimed at protecting the privacy of individuals who have their genomes sequenced and empowering them through informed consent. To realize the enormous power of whole genome sequencing, the Commission recognizes that many people will have to have their genomes sequenced and share that very personal information with researchers. To encourage enough people to share in that way, privacy must be ensured. That responsibility falls on researchers, clinicians, and participants alike.
The Commission proactively argues that individuals consenting to whole genome sequencing ought to be made aware of not only the associated risks and benefits but also how their data will be used and who will have access to the data.
In assessing the advancing field of whole genome sequencing, the Commission recommends protecting and empowering patients through the “evaluation and adoption of a robust and workable informed consent process.” Informed consent is more than a form to be signed; it is a process that involves an active discussion between patient and clinician or researcher. Informed consent is a demonstration of respect for persons, the ethical principle that serves as the cornerstone of the Commission’s report.
The Commission recommends that researchers and clinicians create an environment where participants would have answers to their questions and play an active role in deciding how their whole genome sequencing data will be used both at present and in the future.