Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases: A Conversation with CEO Lukas Lange

If you asked him when he was younger, Probably Genetic CEO and co-founder Lukas Lange may not have imagined himself pursuing a career in genetics or genetics research. His bachelor’s and master’s degree are in Chemical Engineering and Advanced Chemical Engineering respectively. But during his graduate career at the University of Cambridge, where he was building diagnostic devices, he found himself sitting near someone in the lab whose focus was genetics.

The more Lange learned, the more fascinated he became. He was certain that involving genetics in medicine would become one of the most important advances in the 21st century—and he wanted to play a role. Soon, Lange was headed to the University of Oxford as a Rhodes scholar, where he achieved his PhD in Bioinformatics & Genetics. During his time at Oxford, he shares:

“I landed in a research group that worked on rare diseases. It was one of the earliest groups to use whole genome sequencing, so I had the unbelievable chance to work on the 100,000 Genomes Project. Because of this, I became aware of rare diseases and challenges in this field, such as the diagnostic odyssey. To me, the fact that it takes years, innumerable tests, and appointments with many specialists seems like a crazy fluke of the healthcare system.” 

Eventually, after finishing his degree, Lange—alongside Harley Katz—founded Probably Genetic in 2019 with a mission to help patients find answers through genetic testing. 

Developing Probably Genetic

The diagnostic odyssey for rare conditions can seem unending and unrelenting—especially if you have a genetic disease. 72% of rare diseases have a genetic underpinning; 70% manifest in childhood. For many rare diseases, early diagnosis and treatment are crucial for positive outcomes. But with an average 4-5 years to receive a rare diagnosis, and 8+ specialists seen, it’s easy to say that the medical field is missing the mark here. Says Lange:

“The assumption of many patients is that you get sick, go to the doctor, get treatment, and get healthy. But it doesn’t work like that within rare disease. When I was exploring the issues with genetic testing, I was confused by the fact that we’re pretty advanced from a testing technology perspective. Since the technology is there, why isn’t everyone diagnosed? It can be a challenge to recognize genetic diseases, so I wanted to see if we could train technology to identify people with rare diseases and provide an easier and more accessible genetic testing platform.” 

During his PhD, Lange had taken emails from physicians with undiagnosed patients and combed through them to find phenotypic terms. Next, he plugged those into a database and analyzed the patients’ DNA using the specific phenotypes. He shares:

“When you do that, you begin developing hypotheses on diagnoses. If you read 10 pages on patients with Rett syndrome, you can read the phenotypic data on an 11th person and say, ‘Hey, this looks right.’ Harley [Katz] and I began trying to code algorithms that could do this. We realized after speaking with a local hospital that this wouldn’t work for the records they kept. It wasn’t until a conference in 2018 that we met Julia from Mila’s Miracles that we realized something. Before being diagnosed with Batten disease, Julia had known that Mila had autism, couldn’t climb stairs, and was having seizures. I realized that we were looking for phenotypic data in the wrong place.” 

How Does Probably Genetic Work? 

After extensive testing and development, Probably Genetic launched in 2019 with a main goal of providing free genetic testing to families in need. Testing is available in all states except for New York. The process is pretty simple. Patients begin by testing their eligibility. It takes approximately five minutes to fill out a form, in which patients self-report their phenotype (symptoms). 

Next, trained algorithms determine if patients may have a specific disease in one of the five main areas: mitochondrial diseases, seizure disorders, dementias, immunodeficiencies, and movement disorders. If the algorithm identifies a cluster of symptoms related to a disease in this category, the patient is then offered a test after speaking with a physician who establishes medical necessity. It usually takes 1-2 days between shipping and reception of the test. Patients then provide a cheek swab or saliva sample and send it back for review.

Currently, Probably Genetic’s tests can identify over 4,000 rare diseases. For example, they have a testing program for AADC deficiency and just launched a new program for movement disorders, including children with cerebral palsy. Says Lange:

“Depending on the program, we run a minimum of whole exome sequencing. In the dementias, we run whole genome sequencing.” 

Every patient who goes through testing has to do a post-test genetic counseling session, as well as a video or phone consultation, to learn what the results mean. Those receiving genetic testing for dementia must also undergo mandatory pre-test genetic counseling to deal with the implications of finding out the results. If results come back with variants of unknown significance, patients will be updated if the variant is ever reclassified as benign/likely benign or pathogenic (disease-causing)/likely pathogenic. 

How Can Genetic Testing Be Free? 

Rare diseases can come alongside a heavy emotional, physical, mental, and financial burden. For many people with rare diseases, insurance issues are devastating and prevent them from getting adequate care and testing. Lange notes that many insurance companies also fail to cover genetic testing, leaving patients with no options other than not testing or spending tens of thousands of dollars. This is why Probably Genetic remains committed to removing the cost barriers to testing. 

To accomplish this goal, Probably Genetic has partnerships with pharmaceutical companies and patient advocacy groups. They have partnerships in each of the five disease categories, as well as with 20 advocacy groups. Aggregated de-identified information is shared with these partners to create better medical and research programs for these disease states, and to advance research. Patient advocacy groups can also list Probably Genetic information on their website so that patients can directly find and receive testing is eligible. 

If you believe that you or your child might have an undiagnosed genetic disorder, check out Probably Genetic today.