Probably Genetic is Using AI to Help Families Identify Rare Disorders

The startup tests the DNA of children with autism to provide diagnoses of severe genetic diseases that are often grouped under the autism umbrella

19.06.2019 | by Reve Fisher
Photo by Juliane Liebermann at Unsplash
Photo by Juliane Liebermann at Unsplash

Autism is often associated with numerous other health conditions, such as epilepsy, Down’s Syndrome and Fetal Anti-Convulsant Syndrome, according to the UK’s National Autistic Society. Several symptoms that are grouped under the autism umbrella are also indicative of more serious genetic diseases, including DDX3X Syndrome, Angelman Syndrome, Rett Syndrome, Fragile X Syndrome, Williams Syndrome, Phelan-McDermid Syndrome, Batten Disease, Cornelia de Lange Syndrome and Sanfilippo Syndrome.

Through artificial intelligence, machine learning and patient-initiated physician-ordered DNA testing, Probably Genetic aims to provide families of children on the autism spectrum with more comprehensive diagnoses and a more accessible path to therapy and treatment.

“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 told 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 company uses whole exome sequencing to test for genetic disorders in children who have an autism diagnosis. Compared to whole genome sequencing, the human exome only consists of about 1.5 percent of the whole human genome, according to the Rare Genomics Institute; however, all protein coding genes are found in the exome.

Although these tests can cost more than $5,000, Lukas assured that the price of Probably Genetic’s exams will be significantly cheaper than other options on the market, with a ballpark figure of under $1,000.

The startup plans to launch this summer with funding from Khosla Ventures, TenOneTen Ventures, the Oxford Angel Fund and angel investors. However, as the company wants to focus on “how many families we’ve helped, as opposed to how much money we’ve raised,” the exact figure has not been shared with the public.

Parents of children with autism often struggle to get their children tested, as these tests are expensive, not offered by general care physicians, and—in the case of US families—usually not covered by insurance. Probably Genetic aims to be a one-stop shop for complete and early diagnoses—through their network of physicians— as well as genetic counselling services, information and resources for families.

Lukas is currently a PhD candidate in bioinformatics and genetics at the University of Oxford. When he met Harley Kate, chief technology officer and co-founder of the company, who also has a PhD in theoretical astrophysics from the University of Cambridge, the duo realised they had an interest in accurate diagnosis.

“We initially thought we are going to build a catch-all for 7,000 different rare diseases,” Lukas recalled.

“Pretty quickly we realised 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 the World Health Organisation, 1 in 160 children receives an autism spectrum disorder diagnosis. Not only are people with autism subject to stigma, discrimination and human rights violations, but access to services and support is often lacking.

“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,” Lukas explained.

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