Dr Lisa Dive1
1University Of Technology Sydney, Broadway, Australia
Biography:
Dr Lisa Dive is a Lecturer in the Graduate School of Health at UTS. She is a bioethics scholar with a background in analytic philosophy, research qualifications in both philosophy and bioethics, and professional experience in health policy. Her research focuses on the ethical aspects of genetics and genomics.
Abstract:
When selecting genetic conditions to include in a population-wide offer of reproductive genetic carrier screening (RGCS), severity of the condition is a central consideration – along with the strength of the genotype-phenotype association, penetrance and technical factors. Severity of the condition is important for various reasons that contribute to the justification for RGCS.
While there is agreement about what constitutes a very severe condition or a very mild condition, there is substantial complexity involved in drawing the “cut-off” line for inclusion. The concept of severity is internally complex with multiple dimensions. People's perspectives on severity can be affected by their personal and professional experiences and social norms.
When individuals and families make reproductive decisions based on genetic information, their personal perspectives on severity of a genetic condition can be integrated into the decision-making process. However for policy or program-level decisions about whether to include a condition in an offer of screening, it is more difficult to be responsive to diverse perspectives on severity.
We suggest that the concept of utility – incorporating clinical and personal utility – is a more appropriate inclusion criterion than severity. Utility places emphasis on the value of the information for purposes of reproductive decision-making, rather than requiring an appraisal of the quality of life of people who live with a genetic condition. The concept does not discard severity, as severity contributes significantly to utility, but it circumvents some of its complexity and links more directly to the purpose of RGCS and the context in which it is offered.