Send to

Choose Destination
Bioethics. 2019 Nov 26. doi: 10.1111/bioe.12695. [Epub ahead of print]

Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy.

Author information

Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Murdoch Children's Research Institute, Melbourne, Australia.
Faculty of Philosophy, Oxford Uehiro Centre for Practical Ethics, Oxford, United Kingdom of Great Britain and Northern Ireland.


Spinal muscular atrophy (SMA) is the most common genetic disease that causes infant mortality. Its treatment and prevention represent the paradigmatic example of the ethical dilemmas of 21st-century medicine. New therapies (nusinersen and AVXS-101) hold the promise of being able to treat, but not cure, the condition. Alternatively, genomic analysis could identify carriers, and carriers could be offered in vitro fertilization and preimplantation genetic diagnosis. In the future, gene editing could prevent the condition at the embryonic stage. How should these different options be evaluated and compared within a health system? In this paper, we discuss the ethical considerations that bear on the question of how to prioritize the different treatments and preventive options for SMA, at a policy level. We argue that despite the tremendous value of what we call 'ex-post' approaches to treating SMA (such as using pharmacological agents or gene therapy), there is a moral imperative to pursue 'ex-ante' interventions (such as carrier screening in combination with prenatal testing and preimplantation genetic diagnosis, or gene editing) to reduce the incidence of SMA. There are moral reasons relating to autonomy, beneficence and justice to prioritize ex-ante methods over ex-post methods.


disability screening; ethics; pre-conception screening; spinal muscular atrophy; treatment versus prevention


Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center