We are thrilled to announce that the APBD Research Foundation has partnered with Probably Genetic to increase access to genetic testing within our community.

APBD is an ultra-rare, monogenic, and complex multi-system condition. Because it is difficult for health professionals to recognize, patients often find themselves experiencing a lengthy and challenging diagnostic journey. Indeed, in a 2015 study, researchers determined that APBD diagnosis takes an average of 6.8 years (Hellmann et al., 2015). Underdiagnoses and misdiagnoses happen because symptoms overlap with more common diseases such as neuropathy, multiple sclerosis, and other neurodegenerative conditions. Definitive genetic testing for APBD exists, but patients report having difficulty convincing their healthcare providers to order the procedure and their own reluctance to bear out-of-pocket expenses.

Probably Genetic offers potentially undiagnosed APBD patients free genetic testing. Individuals experiencing symptoms can go online and complete a quick  Symptom Checker. Probably Genetic then utilizes their proprietary machine learning technology to identify which potential patients are candidates for the genetic test. An independent telemedicine physician reviews each submission before test kits are sent out for at-home collection of a saliva sample. When the test results are in, patients receive them directly, along with support from a genetic counselor.

Probably Genetic is a group of geneticists, patients, and engineers whose mission is to help people with rare diseases access genetic testing. They take a patient-centric approach that means the patient experience is critical to their work. That’s why they offer eligible individuals free, clinical-grade genetic testing. 

“We are working hard to develop technology that enables us to find undiagnosed rare disease patients online and provide them with access to genetic testing far earlier than in the average diagnostic odyssey,” Abby D’Cruz, DPhil, Head of Strategy and Operations at Probably Genetic. 

Jeff Levenson, DDS, co-president of the APBD Research Foundation, emphasized, “One significant focus of our recently enacted strategic plan is addressing the diagnostic odyssey for APBD. Our collaboration with Probably Genetic allows us to suggest a potential path to free genetic testing when a member of the public reaches out with a suspicion that they may have APBD.”