Probably Genetic – Using AI in DNA Testing for Disease


The Journal of Neuropsychiatric Disease and Treatment mentions that in patients with autism, the chances of them also having epilepsy are as high as 20%. Children with autism may have other diseases, but because of the existence of their condition, it takes some time for physicians to discover those disorders. To make for more straightforward diagnosis, the startup Probably Genetic intends to offer direct-to-consumer DNA testing to provide accurate screening and diagnosis for as many as fifteen severe genetic disorders.

Autism Speaks says that, as of 2018, 1 in 59 kids has a disorder on the autism spectrum. Autism tends to overshadow the idea that genetic diseases may be present in the patient, and many parents don’t even consider testing for genetic problems in their autistic kids. The difficulty in the availability of diagnostic tools to the public, especially parents not supported by a physician, was the motivation for founding Probably Genetic.

Keeping the Doctor In the Loop

What separates Probably Genetic from 23andMe, another similar direct-to-consumer genetic testing system is that the patient initiates the testing, but under the guidance of their physician. The inclusion of the doctor means that the medical professional is thoroughly aware at all times what the patient’s status is and gets the results as soon as they’re available. The DNA test kit must be deemed necessary from a medical perspective by one of the doctors that Probably Genetic keeps in-house before the order occurs.

Managing Costs

The process Probably Genetic uses to tell patients of their conditions is known as whole-exome genetic testing. The journal Nature notes that whole-exome testing can usually cost between $500 and $5,000, and as a consumer dealing with these tests, most of the transparency in the testing process was non-existent.  Probably Genetic aimed to lower the difficulty in obtaining genetic testing for patients as well as keeping it within an affordable budget. To this end, the company is looking at a sub-$1000 price tag for the process.

Linking Service Providers Together

Probably Genetic doesn’t do any testing itself but instead outsources the process to a US-based clinical sequencing company that has accreditation from the College of American Pathologists (CAP) and certification through the Clinical Laboratory Improvement Amendments (CLIA). Analytics comes from a biodata service provider’s existing data set. Additionally, at least in its initial release, the company hopes to provide genetic counseling services through an external service provider as well. If anything, it creates a convenient place for a patient to get their testing, analysis, and counseling dealt with under one roof.

Narrowing the Scope

While the initial plan was to be able to catch as much of the different genetic disorders that exist in the population, the reality of the situation makes it unlikely that a company can do that based on the limitations of current technology. To allow for a more viable diagnosis and treatment model, probably Genetic opted to limit their diagnosis to these fifteen genetic disorders, making it more manageable for the company as well as faster for results to be handed off to the patient.

Finding Hidden Problems

Autism might not be the overall disease itself, but rather a presentation of something else that may be genetic. Under this premise, Probably Genetic hopes to discover any disorders that might be present in autistic kids underneath their overall presentation of autism. By doing so, doctors can get a better idea of the maladies their patients have and how to best deal with them. There is an opportunity here to explore what may be lurking under the diagnosis of autism.


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