Published November 2016
Recent research into the genetics of autism has raised speculative questions about the prospect of prenatal testing for the condition and the development of preventative interventions and treatments in the future. This research also has wider implications for our perception of behavioural disorders in general.
Are there recent scientific, legal or social developments?
There has been a dramatic increase in the number of children diagnosed with autism in recent years which is thought to be principally as a result of heightened awareness and new diagnostic criteria. Only a small number of cases of autism can be attributed to a medical condition or single gene defect. However, there is increasing evidence that ‘idiopathic autism’ is in fact heritable and due to the interactions between multiple genes, with environmental and epigenetic factors accounting for the variable phenotypes seen. It is hoped that discovery of these susceptibility genes may lead to new treatment targets and potential screening tests. The Autism Genome Project was established in 2004 and is currently planning a third phase of activities. Another approach to testing for autism has been to look for biomarker patterns. Other studies have identified neuroinflammation and autoimmune disorders as potential causative factors. In 2013, scientists reported a trial using deep brain stimulation (DBS) to alleviate symptoms in a boy with severe autism, which showed promising results.
Are there complex ethical issues?
Some have raised concerns that these developments represent the increasing pathologisation of behaviours and question the permissibility of neurological treatments that aim to normalise individuals with these conditions. Advocates of the neurodiversity movement argue that autism is just a particular type of cognitive style, rather than a disorder to be treated, and that part of the problem stems from society’s inability to respond to the needs of people with autism. Supporters of this view are worried that increased genetic testing and intervention will further stigmatise those with the condition, and that resources will be directed towards the eradication of the disorder, rather than on improving the lives of those living with autism. Some have argued that research with the aim to ‘cure’ autism may be undesirable, especially to adult individuals who may consider autism to be an important part of their identity. Concerns have also been expressed that if an inherited mutation is found to be the cause of autism in a particular family this may lead to parental guilt or stigmatisation within families. Since autism is a multifactorial condition a genetic diagnosis will simply convey a susceptibility; if children who test positive never go on to develop the condition they may be unnecessarily stigmatised and thus have their ‘right to an open future’ compromised. Whilst there is an argument that early diagnosis can mobilise early intervention and improve outcomes for children with autism, a genetic diagnosis of autism may actually reduce the availability of services for patients in low and middle income countries. However, others stress that autism exists as a spectrum, and that for some it can have a profound effect on their quality-of-life. For these individuals and their families, genetic research could result in significant improvements in diagnosis and treatment. It may also provide important information for families who want to know how likely it is that their other children will be affected. Finally, the ethical considerations of conducting research into autism, particularly research directly involving children with the condition, should not be overlooked. In particular there is an argument that ‘neurotypical’ parents may not be the best placed to consent for their autistic children to participate in research.
Is there a potential policy impact?
If a genetic test for autism were to become clinically feasible, regulators would need to decide whether such a test should be made available, and if so, the criteria for eligibility. In making this decision, policy makers will need to take account of the wider implications that permitting genetic testing for autism would have on our conceptualisation of behavioural disorders.
Is it a subject of public concern?
The sharp increase in the number of children diagnosed with autism and the controversy surrounding the proposed link between the condition and the MMR vaccine has resulted in autism being a subject of significant public concern. This is perhaps reflected in the Autism Act 2009, the first condition-specific legislation of its type in England, which places a duty on the Secretary of State for Health to introduce a strategy for meeting the needs of adults with autism.
Is consideration timely?
Although there are no conclusive biological tests for autism currently available, it has been speculated that they could happen within five years, thus making the argument for an early ethical debate about their implications.
Can the Council offer a distinctive contribution?
The Progress Educational Trust is currently running a project on autism supported by the Wellcome Trust, which is focussing on the interplay between genetics and psychology, and the public’s understanding of spectrum disorders. An alternative approach for the Council could be to look at the wider issue of behavioural disorders and the implications of new genetic research and cure-directed therapies on a number of conditions (e.g. autism, ADHD and addiction). It will be important that there is input from individuals and families directly affected by these conditions. There is likely to be some overlap with the Council’s previous work on novel neurotechnologies and the current work on non-invasive prenatal testing and genome editing.
Possible future work topics
This is one of the topics that have been suggested as possible project areas for further investigation by the Council. These topic summaries do not aim for comprehensiveness; rather, they are intended to sign-post some of the key considerations and to provide a starting point for discussion. Each summary includes links to relevant publications on the topic.