This is my transcript of Dr Daniel Geschwind’s opening speech at a hearing of the US House of Representatives Foreign Affairs Committee on 25 June this year. Daniel Geschwind (UCLA) is co-principal investigator, alongside Simon Baron-Cohen (Cambridge) and Matthew Hurles (Wellcome Sanger), of Spectrum 10K, a hugely problematic study of the genetics of autism in a population of 10,000 participants from the UK (whose genetic data will then be pooled with other large genetic datasets for further studies). There is much discussion of the study in various autistic forums, including autistic Twitter, where I will post some noteworthy parts of the transcript.
Timings are in minutes and seconds relative to the start of the video (also available on YouTube). I have highlighted in bold some of the things that stood out for me on listening to this speech – there were a lot!
[16:42] Good morning, Honourable Chairwoman [Karen] Bass and Ranking Member [Christopher] Smith and other members of the subcommittee. I really thank you for the opportunity to testify before you today. My remarks will be brief, and will focus on introducing autism spectrum disorder, which is increasingly being recognised as a major public health challenge. I’ll summarise its causes, its broad impact here [in the US] and in Africa. I also refer you to my written remarks, which will contain more detail and references.
[17:15] Autism was previously thought to be rare, but it’s a common brain disorder affecting 1 in 54 children, four times more boys than girls. It’s the leading cause of disability in children under 5. It’s a chronic, typically life-long condition, with onset in early infancy, which is why it’s called a neurodevelopmental disorder. It’s characterised by abnormal social development primarily, as well as the presence of what are called repetitive behaviours, and some resistance to change and repetitive movements. About a third will have intellectual disability. Two-thirds won’t. The wide variability and severity in symptoms and outcomes has led to the framing of autism as a spectrum, called autism spectrum disorders.
[18:04] There’s no single test for autism. It represents many different forms, similar to pneumonia, cancer, most other common disorders. Diagnosis is not easy: it’s performed by highly trained practitioners, such as psychologists or psychologists [sic] or neurologists, and the need for highly trained professionals can lead to significant delays in diagnosis and treatment. Just as the spectrum varies, the outcomes vary widely. But it’s clear that diagnosis and intervention lead to much better outcomes. Therefore a major effort in the field has been to diagnose autism as early as possible and initiate behavioural treatments, which have been shown to improve outcomes.
[18:45] With respect to early diagnosis, I bring your attention to substantial disparities in the delay of diagnosis of autism in this country and of course in Africa. There are substantial problems in access to treatment and services in communities of colour, namely for Hispanic and Black children. On average, Black children with ASD have a 3-year delay in diagnosis relative to white children. And this likely has a huge major negative impact on outcomes. And, as well as an outsized economic and social impact, autism is estimated to cost somewhere between 268 and 461 billion US dollars annually. The disparity is magnified substantially in the developing world. In west Africa, that has a population of approximately 300 million, there are only about 35 clinicians who work in autism. Even in the US, there’s one child psychiatrist for every 2000 children or adolescents needing care, which is still a shortage. But in west Africa it’s one per 3.5 million.
[19:51] So in terms of the causes, it’s really – as we know, it’s crucial to know the cause of a disease to treat it most effectively. Autism has a biomedical origin, just like other common brain disorders and psychiatric disorders. Most risk for autism is genetic: it has a 70–80% heritability. There is room for environmental causes: we know that birth complications and pre-term birth can cause autism as well.
[20:16] But genetic studies have really led to a revolution in our understanding of the disorder, just like for Alzheimer’s disease, as we mentioned earlier. The more than 100 genes now identified are serving as targets for the development of new therapies in industry and academia. Ancestry plays a big role in genetic risk, such that different ancestors may have different genetic contributions to disorders like autism. However, very little work has been done to elucidate genetic causes of autism in African American or African populations. Studying diverse ancestries – outside of the groups studied – has substantial advantages, by enabling pinpointing the actual genetic causes, and reducing the rate of genetic misdiagnosis in the general population.
[21:03] In summary I have a few major recommendations. Our understanding of autism has changed markedly in the last two decades due to growth and advances in research and clinical treatment. Continuing that trajectory is essential to decreasing societal and economic burden. The vast majority of research has been done in white European populations, and there’s a need to increase inclusion of diverse populations, especially Black Americans, who are severely underrepresented in autism and brain disease research in general. The same holds true for Hispanic Americans. We must lower structural barriers that limit access to diagnostic services and treatment in under-resourced communities. Access to qualified providers in communities of colour is a major problem, and this workforce needs urgent expansion.
[21:52] Why Africa though? Expanding research in clinical care in Africa has the advantage that advances in understanding in clinical care can be accomplished at far lower cost than in the developed world. But of course there’s the humanitarian side of this as well, in that the disparities that are present in this country are far greater in Africa. To be effective and sustainable, any effort in Africa must work via supporting local clinicians and researchers. And we heard the example of hydrocephalus, which is absolutely phenomenal. We need to do the same thing for autism. We must support local clinicians and researchers who can be trained to the state of the art via exchange programmes and interactions with colleagues in the US and in other countries. Workforce expansion and training in Africa is sorely needed, and it’s feasible and cost-effective. This will have a direct impact on local populations, lowering the overall economic and societal burden of disease, by allowing earlier intervention, and will also have a direct impact for us in the US via its economic impact, the knowledge gained, which can be directly applied to our population. Thanks for this opportunity.