Oral Presentation Australasian Association of Bioethics & Health Law and New Zealand Bioethics Conference

Drugs, Genes and Screens: The ethics of preventing and treating Spinal Muscular Atrophy (962)

Chris Gyngell 1
  1. University of Melbourne, Clifton Hill, VIC, Australia

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 IVF and PGD. In the future, gene editing could cure 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 prioritise the different treatments and prevention 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 prioritise ex-ante methods over ex-post methods.