Felicity Boardman

Abstract With the advent of novel gene therapies, rare genetic diseases once lacking treatments are now being considered for newborn screening programmes (NBS). Wilson and Jungner criteria (drawn on worldwide to guide screening programme evaluation) necessitate effective interventions for a recommendation of screening. Spinal muscular atrophy (SMA) is an example of a condition for which the case for NBS has rapidly gathered pace in recent years.

The ostensibly simple, yet overwhelming complex, notion of condition severity is employed across genomic and reproductive medicine in various ways. Most significantly, as a gatekeeper for access to a range of reproductive and genomic technologies (e.g. prenatal testing and abortion, PGD, carrier/newborn screening).

Abstract The notion of a “serious” genetic condition is commonly used in clinical contexts, laws, and policies to define and delineate both the permissibility of and, access to, reproductive genomic technologies. Yet, the notion lacks conceptual and operational clarity, which can lead to its inconsistent appraisal and application. A common understanding of the relevant considerations of “serious” is lacking. This article addresses this conceptual gap.