The ethical, legal, and social implications (ELSI) of human genetics research highlights the importance of responsible genetic research that furthers knowledge in genetics while minimizing risk to test subjects. Understanding and defining terms like ‘harms’ and ‘benefits’ is thus imperative for understanding the ELSI of genetic research. In their recent article Reconceptualizing Harms and Benefits in the Genomic Age, UI Associate Professor of Law Anya Prince and National Institutes of Health bioethicist Benjamin Berkman advocate for changes in how those two terms are understood and put into action.
Reconceptualizing Harms and Benefits first reviews how the meaning of ‘harms’ and ‘benefits’ in the context of human genetic testing has evolved. Early research in the ELSI of human genetic testing was primarily concerned with psychosocial harms, such as the anxiety or depression that can follow test results indicating one will suffer from Huntington’s disease later in life. There were also worries of economic harms due to discrimination in insurance coverage and employment based on one’s genetic makeup. Early ELSI literature referred to both by the umbrella term ‘informational harms’.
Prince and Berkman examine this conventional understanding by looking at whether evidence generated by the past twenty-five years of genomic testing supports the focus on informational harms. The authors look to studies that measured, test subjects’ pre-testing fears of post-testing informational harms, and to studies that have measured the real-life damage that is wrought upon test subjects when these harms materialize through discovery of an genetic marker that foretells future onset of a disease. They note that while test subjects continue to cite informational harms as a disincentive to undergo genetic testing, when these issues materialize, test subjects often experience far less psychosocial or economic damage than the test subjects had expected. After discussing why this disparity between expected and actual harm exists, Prince and Berkman conclude that ELSI writers should consider other types of harms beyond informational harms, recognizing that ELSI literature should not move away from informational harms altogether lest these possible harms become more problematic in the future.
Prince and Berkman then analyze the ‘benefits’ of genetic research, including to scientific knowledge and to the subjects being tested. They note that, akin to most other areas of research, genetic research is primarily concerned with the advancement of knowledge, and not with providing the subject with clinical data that may be of personal use. However, recent advancements in genomic technology that allow for greater specificity in genetic information demand that research ethics factor in how the subject and even blood relatives of subjects may benefit from notification of their test results. For example, if a male test subject is discovered to be a carrier of a hereditary disease that only afflicts females, this data is of little clinical use to him. However, receiving and acting upon this data may be of paramount importance to his female relatives. Thus, a concept of ‘benefits’ that does not contemplate this kind of fact pattern is incomplete.
Prince and Berkman argue that the possible clinical benefit to a test subject and to his or her blood relatives be treated as separate and distinct concepts. This is, in part, due to a recognition that in many areas of research the consideration of familial benefits is not necessary and can even be overly burdensome. Too much focus on indirect benefits to subjects’ family members risks misleading subjects as to the level of personal benefits they may receive for participating and misallocating research funds. As such, Prince and Berkman suggest ELSI researchers carefully consider the role and value of those indirect benefits in genetic research.
Finally, the authors note that the number of people who undergo genetic testing will likely grow in the future. The resulting influx of data will mean that ELSI writers will have to continue to reassess how they understand ‘harms’ and ‘benefits’. This may involve a shift away from the fear of informational and psychosocial harms. The concept of benefits will also change, and present opportunities and challenges for researchers that have increasing access to vast amounts of genetic data. ELSI research should continue to monitor the evolving harms and benefits, and how that knowledge can help maximize the value of newly acquired genetic information.