Ethical/Social Policy

Many of the ethical and social issues related to genomic and precision medicine have existed since the onset of genetic testing, but some have been re-ignited and new ones have arisen with the ability to uncover all genetic variants in a subject through whole-genome sequencing (WGS) or whole-exome sequencing (WES). 

Privacy issues have been re-ignited by the introduction of next-generation sequencing, and fueled by an atmosphere of collaborative, open-access public data sharing. Studies of publicly available sequence data have shown that patients in research studies can be identified by their genome sequences. These findings demonstrate the potential for sequence data to expose patient identities, with significant implications for not only the individual, but also their family members and possibly the larger community to which they belong.The 2008 Genetic Information Nondiscrimination Act (GINA) federal law bars insurers and employers from discriminating on the basis of genetic information, but it does not pertain to long term disability or life insurance, nor does it protect against stigmatization. 

See: Gymrek, M. et al. Identifying personal genomes by surname inference (2013) and Kaye, J. et al. Ethical implications of the use of whole genome methods in medical research (2010).  

Watch the video: 'Can We Keep Our Genomes Secret?' from Science Magazine where Misha Angrist and Yaniv Erlich discuss the scientific, legal and ethical issues affecting genetic privacy in the age of personal genomes.

With the increasing use of genetic ancestry databases by criminal investigators to identify perpetrators of cold cases, some concern about the privacy of ancestry databases has been raised. With the public’s interest in genealogy and use of genetic testing to find long-lost relatives and geographic origins of their ancestors, the newfound use of personal DNA may adversely impact sharing and access to DNA databases.

On average, every human has several hundred functional mutations in their genomes, most of which are of unknown significance. A patient who undergoes genome sequencing for diagnostic purposes may learn not just about the genetic basis of their disease, but potentially about other variants of known significance or unknown significance as well. Who decides which of the discovered variants are clinically relevant and under what circumstances these incidental findings of WES/WGS should be shared with patients are hotly debated topics.

The American College of Medical Genetics (ACMG) advocates for clear policies related to incidental findings, stating that patients should be informed about what types of additional information might be available to them and their options to receive or decline to receive the additional data. The ACMG released a report in November 2014, 'Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing', recommending that patients considering exome and genome sequencing for clinical use be informed about incidental findings and that the patient's preferences of whether they wish to learn or decline to learn about the incidental findings should be determined. That decision should be made during the process of informed consent before testing is performed.

Read a series of articles by leading experts on return of results in genome sequencing by the Council for Responsible Genetics.

The issue of returning research results to participants is a key issue to consider when developing a genetics or genomics research protocol. With increasing engagement and awareness of patients and the public, both groups whom are recruited for studies, as well as the growing understanding of the clinical significance of personal genetic and genomic information, the issue continues to remain at the forefront of ethical debates and policy discussions. Most recently, a committee convened by the National Academies of Sciences, Engineering, and Medicine reviewed the literature and heard from researchers, bioethicists, patient advocates and others about the return of results. Access report