Probably Genetic helps families identify genetic conditions early with AI and DNA tests

TechCrunch | 6/18/2019 | Staff
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Children on the autism spectrum often suffer from other medical conditions. As many as one-fifth of those diagnosed with the neurodevelopmental disorder, which affects communication and behavior, have epilepsy, for example, according to research on the subject.

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.

Awareness - Community - Lot - Diseases - Co-founder

“There is really low awareness still in the medical community for a lot of these diseases,” Probably Genetic co-founder and chief executive officer Lukas Lange tells TechCrunch. “The actual testing happens really really late in the process … Even once you decide that you want to get your kid genetically tested, that process itself is really difficult because if you don’t have a physician in favor of it, patients spend months lobbying to get the test done.”

The startup, which plans to launch this summer, is backed with venture capital funding from Khosla Ventures, TenOneTen Ventures, the Oxford Angel Fund and angel investors. Lange, a current PhD candidate in bioinformatics and genetics at the University of Oxford, said the company is keeping the precise amount of capital they’ve raised private, citing a focus on building the best service for special needs families.

Families - Money - Lange

“We measure ourselves by how many families we’ve helped, as opposed to how much money we’ve raised,” Lange said.

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”...
(Excerpt) Read more at: TechCrunch
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