Biomarkers for Autism: Ethical Issues Arising From Their Use in Diagnosis and Screening

Background:  It is hoped that the development of biomarkers for autism would not only substantially advance research into the causes of autism but could also be clinically useful in complementing or improving the current behavioural diagnosis of the condition  and enabling its earlier detection, thereby assisting in the validation of very early, targeted interventions. While a number of key scientific challenges to the development of biomarkers for autism remain to be overcome, the prospect of their development means that it is both appropriate and timely to consider the ethical issues likely to arise from such scientific advances.

Objectives:  This presentation will identify and analyse the ethical issues relating to the development of biomarkers for autism. More specifically, it will consider the ethical implications of using biomarkers for autism in the context of diagnosis and screening.

Methods:  The presentation will explore the vexed issues associated with the heterogeneity of autism and how this affects the use of biomarkers for autism. For instance, while it is claimed that biomarkers would assist in complementing and improving diagnosis currently based exclusively on behavioural criteria, it is hard to see how biomarkers could circumvent the ethical problem of establishing a non–arbitrary cut-off point between behaviour considered `normal’ and behaviour considered `disordered’, with all the implications that has for how individuals see themselves, how others view them and how they are viewed by services, teachers, employers and so on. When it comes to using biomarkers as screening tools, the complexity and heterogeneity of autism means, it is unlikely that a single biological test or biomarker will be able to establish the risk of autism in an embryo or fetus with a high degree of certainty in the vast majority of cases. However, it is possible that biomarker discovery may help to identify different typologies within the autism spectrum, providing parents with a probabilistic estimation of the symptoms and course of autism if the condition were to be manifested. As parental decision-making is likely to be influenced by future biomarker information about autism, the ethical implications of biomarker discovery for genetic counselling, for the choices offered to parents, and for reproductive choices more generally, will be explored.

Results: At the end of this presentation, attendees will be able to identify and understand the main ethical issues relating to the use of biomarkers for autism for diagnostic and screening purposes.

Conclusions: The current absence of systematic input from the community affected by autism is a major challenge to be overcome, given the importance of the ethical issues arising from the development of biomarkers for autism. By contextualising existing and new research knowledge within the real-life experiences of affected families, science communication regarding autism biomarkers can serve its primary purpose of informing the public and contributing to ethically informed knowledge translation.