A New Direction in Autism Research: Google Cloud
Autism is everywhere and it is great! I’m not referring to the recent CDC estimate that 1 in 68 children in the U. S. are diagnosed with the disorder. Instead, I’m talking about its presence in the news. Most recently, I’ve read that the Vatican is holding an inaugural conference on autism, “The Person with Autism Spectrum Disorders: Animating Hope” this week. This is part of Pope Francis’ initiative to rethink social issues and the role of science and in turn help embrace marginalized peoples. Topics covered by the upcoming conference (which will be available to stream here beginning 11/21 at 9am EST) include brain development, environmental factors in autism; early diagnosis; and technology.
In just considering the title of the conference, it’s apparent that there has been a radical transformation in the social awareness and understanding of the disorder since autism was first described in 1943. Whereas autism was once believed to be caused by rigid parenting methods and vaccines, the disorder is now appreciated as a spectrum of social and communicative difficulties that are caused by a combination of genetic and environmental factors.
The Vatican’s conference comes after a recent announcement that Autism Speaks, the largest autism foundation in the U.S., is collaborating with Google and the Sick Kid’s Hospital of Toronto to sequence the whole genomes of over 10,000 individuals with autism spectrum disorders (ASD) and their families from around the world. That’s right Google.
Autism Speaks has been working over 15 years to create an open-access collection of DNA samples from families affected by autism. The goal of collecting and sequencing whole genomes is to have a greater understanding of the genetics behind potential risk factors and subtypes of ASD. ASD is incredibly heterogeneous and affected individuals range in a cognitive ability, language difficulties, and sensory sensitivities. ASD is also largely believed to be hereditable: 25% of younger siblings of children with ASD show milder variants in social communication difficulties and restrictive behaviors. There is much to be learned about how genes (both encoding and nonencoding bits) interact with environmental factors to create the autism syndrome.
So where does Google come into play? This is a fascinating and ambitious initiative. Autism Speaks is using Google Cloud Platform to store genomes. Genomic information was previously shared by shipping hard drives around the world. Downloading a single genome is also a time consuming process. Google Cloud will allow scientists the ability to remotely access and upload genomes for phenotyping. This will reduce the amount of time spent physically moving data and more time analyzing it. Researchers are hopeful that this collaboration will accelerate breakthroughs in discovering causes in autism. Such discoveries will then provide useful knowledge in advancing diagnoses and more effective treatment strategies.
I see a lot of interesting opportunities that can come out of this collaboration. Many behavioral and neurological studies of ASD are limited to individuals that are high functioning enough to complete experimental protocols. A genome-wide sequencing project can get at the whole spectrum. Furthermore, this large-scale genome project can also provide some useful insights into the gender differences in ASD (the ratio of boys to girls with diagnosis is 4:1).
Although I do think this is a great use of technology, there are some precautions to note. First is the generalizability of the findings. ASD is currently only diagnosed through direct observation of behavioral symptoms. While researchers may find candidate genes that are likely involved in the cause of autism, this knowledge would not be helpful without relating implicated genes with social communicative behaviors. And what about interactions with the environment? Or developmental timing in which genomes were obtained? Does the expression of a risk allele in infancy differ than that in adulthood? What does it mean to have an autism risk allele, for example, when we don’t know how that would translate into brain development and then outward behaviors?
Secondly there is the issue of security. We’ve read about celebrity nude photos leaking from different Cloud sources. I’m sure extra precautions have been taken for the de-identification of participant data, but what would about viruses or if personal information is somehow leaked inadvertently.
Lastly, psychologists must also begin considering the ethics of potentially finding genetic causes of autism. ASD is a pervasive, life-long condition and individuals affected typically have co-occuring medical issues, including sleep problems, anxiety, seizures, and self-injurious behaviors. How would this influence reproductive choices?
In summary, the collaboration between scientists and technology offers great opportunities for groundbreaking innovation but there also needs to be some precautionary measures that psychologists must take in the language to communicate results. The search for reliable biomarkers in autism has been a topic of interest for years. The Google Cloud Platform will take scientists one step closer. However, with this information comes great implications in our subsequent understanding of the disorder. Psychologists and medical scientists must be careful to explain any genetic findings in probabilistic and not deterministic terms. Such discoveries will also call for additional research in effective treatment plans.
In any case, I am excited to see what data come out in the next few years. The field has progressed so much in a short amount of time. Hopefully researchers will be able to improve the quality of life of individuals directly and tangentially affected by the disorder.