Startup wants to combine DNA, machine learning for earlier autism diagnosis

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Image: Marc Christofordis

Probably Genetic, which recently graduated from the startup accelerator Y Combinator, wants to test the DNA of children with autism to provide them early diagnoses of more than 15 severe genetic diseases that are often grouped under the initial autism diagnosis. Using machine learning and direct-to-consumer DNA tests, Probably Genetic hopes to provide families of children on the spectrum with more complete and correct diagnoses and a path to appropriate treatment and therapy.

Unlike 23andMe, which similarly provides genetic testing direct-to-consumer, Probably Genetic is patient-initiated physician-ordered testing, meaning a physician is in the loop throughout the entire process and a DNA test must be deemed “medically necessary” by a Probably Genetic physician — the company partners with several doctors — before it can be ordered.

Probably Genetic performs whole-exome sequencing, a process that can cost upwards of $5,000, to test for genetic disorders in children already diagnosed with autism. [CEO Lukas] Lange said the team is still determining the price of its genetic tests, but assures it will fall under $1,000.

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[Genetic counseling services] will be offered through an external service provider initially. In the long-term, Lange said, Probably Genetic will consider hiring their own full-time counselors.

Read full, original post: Probably Genetic helps families identify genetic conditions early with AI and DNA tests

Related article:  Viewpoint: Neurodiversity and why we can't let fear of autism discourage vaccinations
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