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From her TED talks and her appearances on PBS, geneticist Wendy Chung is known to millions of people as an expert on autism. But thanks to funding from the Simons Foundation, she’s also known to tens of thousands of people with autism and their families as the leader of history’s largest study of the genetics of autism spectrum disorder (ASD). It’s called SPARK, for Simons Foundation Powering Autism Research for Knowledge, and it's a big-data exercise of unprecedented proportions.

SPARK is partnering with more than 30 medical schools and research centers to recruit 50,000 families with members affected the ASD. Participants have their DNA sequenced, enabling SPARK to build a list of genetic differences linked to autism as a starting point for research on the causes and mechanisms behind the condition. 

At the moment the list includes 157 single genes and 28 copy number variants. But changes in these known ASD genes show up in only about 10 percent of families studied—suggesting that the existing list is just the tip of the iceberg. Identifying common gene variants with small effects requires large sample sizes, which is why SPARK aims to recruit so many participants. At 50,000, the SPARK researchers think they'll be able to find as many as 150 individuals with mutations in each of the 100 most common ASD genes.

SPARK is unusual not just for its scale but for its participant-friendly design. Biospecimens such as saliva samples are mailed in, and patient data is collected through remote online questionnaires rather than in a clinic. The study also follows participants longitudinally, and it returns genetic data to them—an uncommon practice in large studies due to its resource-intensiveness.

Chung trained in biochemistry and economics at Cornell, earned a PhD in genetics from Rockefeller University, and got her MD from Cornell University Medical College. On top of her role as SPARK's principal investigator, she is also the  Kennedy Family Professor of Pediatrics and Medicine and Chief of Clinical Genetics at Columbia University Medical Center.  

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Full Transcript

Harry Glorikian: I’m Harry Glorikian, and this is MoneyBall Medicine, the interview podcast where we meet researchers, entrepreneurs, and physicians who are using the power of data to improve patient health and make healthcare delivery more efficient. You can think of each episode as a new chapter in the never-ending audio version of my 2017 book, “MoneyBall Medicine: Thriving in the New Data-Driven Healthcare Market.” If you like the show, please do us a favor and leave a rating and