Source: TechCrunch

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.

“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.

“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” 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. Lange said the team is still determining the price of its genetic tests, but assures it will fall under $1,000, or significantly less than other options on the market. Unfortunately, the tests will not be covered by insurance.

The company doesn’t perform genetic sequencing in-house, rather, it partners with a U.S.-based clinical sequencing provider accredited by the College of American Pathologists (CAP) and certified through Clinical Laboratory Improvement Amendments (CLIA). Probably Genetic also partners with a bioinformatics service provider that’s plugged into the lab for data analysis purposes.

Parents of children with autism oftentimes have difficulty having their children tested, as Lange mentioned. Not only are these tests costly and infrequently covered by insurance, but they are also not offered by general care practitioners. A family has to receive a referral from their doctor to visit a specialist who will then have the test ordered. Using Probably Genetic, Lange and his co-founder, chief technology officer Harley Katz, hope to create a one-stop shop for complete and early diagnoses, access to genetic counseling services, and information and resources for families of people on the spectrum.

The genetic counseling services, which exist to help families better understand the results of their genetic tests, 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.

Lange met Katz, a PhD in theoretical astrophysics from the University of Cambridge, six years ago. The pair quickly realized a common interest in accurate diagnosis, or lack thereof, before they decided to focus on autism and its associated conditions.

“We initially thought we are going to build a catch-all for 7,000 different rare diseases,” Lange said. “Pretty quickly we realized a whole lot of people coming to your door have undiagnosed diseases but not all are genetic in nature so if you try to build a catch-all you wouldn’t be able to help a lot of people. So we decided let’s focus on one area that has a much higher likelihood that the patients that come through your door actually have something genetic.”

According to a 2018 report from the Center for Disease Control and Prevention, one in 59 children is diagnosed with autism. Boys are four times more likely to be diagnosed than girls.

“There’s a big opportunity here to focus on a category that we know already genetics plays a huge role but still an opportunity to find kids who don’t ‘just have autism’ but where there is actually something bigger at play and autism is only a part of their disease presentation.”


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