Dr Lisa Dive1, Professor Ainsley Newson1
1University Of Sydney, Camperdown, Australia
The severity of genetic conditions is frequently appealed to in discussions of the use of genetic information in reproduction. Focusing on reproductive genetic carrier screening (RCS), we address two key issues in this paper. First, we explain why severity is important when deciding which genes to screen for, particularly in a population wide program. Drawing on disability critiques of genetic screening, we argue that population screening programs to inform reproductive decision making are justified only for severe genetic conditions.
Second, we tackle the concept of ‘severity’ itself. In much literature about RCS and related interventions, accounts of severity have a highly subjective component. For example, there have been attempts to characterise and quantify severity of health conditions for the purposes of carrier screening. The boundaries of severity are also disputed. These issues raise significant challenges for program design, which requires decisions about what conditions to include and which variants within these conditions to report. To help resolve these problems, we argue that severity can be understood as an “essentially contested concept.” In addition to being scalar rather than binary, it is also fundamentally multi-dimensional. As such, it cannot be specified in a completely objective way. Nevertheless, there remains an ethical imperative to rely on some understanding of severity in the context of designing population RCS. We argue that it is important to find ways of making programs responsive to the relative severity of different genetic conditions, despite the aspects of uncertainty that are inherent in the concept’s determination.
Dr Lisa Dive is a research fellow at Sydney Health Ethics at the University of Sydney, with a background in analytic philosophy and health policy. Her research focuses on bioethical concepts and how they come under pressure in the context of ethical challenges in medicine and health care.