Ethical issues in reproductive genetic carrier screening

Abstract

and Martin Delatycki, as well as members of the Mackenzie's Mission Research and Gene Selection Committees, for helpful discussions that informed the drafting of this article. Competing interests: Lisa Dive's position at the University of Sydney is funded by Mackenzie's Mission. Ainsley Newson is a Chief investigator with Mackenzie's Mission.

Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia

“…9 However, RCS raises ethical issues. 10 For SMA specifically, identifying carriers of a pathogenic variant in the SMN1 gene does not, on its own, predict the severity of SMA that a child may develop. A further consideration is the wider debate on the place of disability and difference in society.…”

“…A further consideration is the wider debate on the place of disability and difference in society. 10 It has been argued that prenatal screening is unjustly discriminatory, particularly when there is variable presentation. 11 Reasons include an implicit purpose of eradicating disability and diminishing diversity, thereby devaluing people living with genetic conditions such as SMA.…”

Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population

“…RCS is now starting to be implemented in various countries as an opt-in population screening initiative, 4 offered to those of reproductive age regardless of family history or ancestry. In Australia, a research program in which up to 10,000 couples will undergo RCS commenced in 2019 ( Dive and Newson, 2021 ). This program was funded following long-term professional and public advocacy, most recently a direct approach to Australia’s federal health minister by the parents of a baby who had died from Spinal Muscular Atrophy Type 1 ( Casella, 2020 ).…”

Ethical considerations in gene selection for reproductive carrier screening

“…While RGCS is ethically defensible, as it becomes more widely available a range of clinical, laboratory, economic, implementation and ethical considerations arise. These include determining acceptable program goals, how to implement screening equitably, and how to reflect community values (Dive and Newson 2021 ). Screening programs can raise different ethical and practical considerations compared to a clinical test offer.…”

“…Such rates of carrier identification will generate resource implications, including laboratory scientists’ time in determining whether to report a variant, and genetic counsellors’ time to support each person informed of carrier status. Because RGCS—like all screening—is subject to resource constraints, some of the larger scale carrier screening programs—such as Mackenzie’s Mission (Dive and Newson 2021 ), and the Groningen trial (Schuurmans et al 2019 )—are reporting only couple-based results. Further to these practical considerations, reporting couple-based results reflects the aim of RGCS, namely to provide couples with information relevant to their reproductive decision making (De Wert et al 2012 ).…”