31- How does the severity of a genetic condition affect the utility of knowing about it?

When deciding which genetic conditions to include in a population-wide offer of reproductive genetic carrier screening (RGCS), severity of the condition is a central criterion – along with considerations like the strength of the genotype-phenotype association, penetrance and technical considerations. Severity is important for addressing concerns about eugenics, and the disability and expressivist critiques of RGCS.
While there is agreement about what constitutes a very severe condition or a very mild condition, there is substantial complexity involved in where to draw the “cut-off” line for inclusion in RGCS. 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 need to make reproductive decisions based on genetic information, their personal perspectives on severity can be integrated into the decision-making process. However when making programmatic decisions about whether to include a condition in an offer of screening, it is more difficult to be responsive to diverse perspectives on genetic conditions.
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.

Authors: Lisa Dive, University of Technology Sydney; Eline Bunnik, Erasmus MC; Lucinda Freeman, University of Technology Sydney; Anne-Marie Laberge, Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Ste-Justine, Montreal, Canada