Diagnostics · Rare disease
Probably Genetic
An online symptom checker, a saliva kit in the mail, and a genetic test the patient never pays for. The bill goes to a drug company, and so does a stream of data about who has the variant and which doctor is treating them.
A ventilator, a Facebook ad, and an answer
The patient was in hospital, on a ventilator, unable to breathe independently. The cause of the muscle weakness was unknown. Scrolling on a phone, this person saw an ad for a free genetic test and filled in a symptom questionnaire.
Weeks later a clinical laboratory report came back naming an ultra rare mitochondrial disorder. Lukas Lange, chief executive of the company behind the ad, told a rare disease podcast in 2023 that this was when the idea stopped being theoretical.
“This person saw an ad for our service on Facebook while they were hospitalized on a ventilator.” He called it bittersweet. The sweet part was the answer. The other part was that nobody had ordered the test first.
Why the test does not get ordered
Rare disease is a volume problem disguised as a rarity problem. ARPA-H counts more than 350 million people worldwide across over 10,000 conditions, with a diagnostic odyssey averaging six years. About half are undiagnosed or misdiagnosed.
Sequencing is not the bottleneck. Access is. A patient cannot order a whole exome sequence, and a general practitioner rarely does. Coverage is inconsistent and the price has run past $1,000.
Into that gap came sponsored testing. A 2026 paper in the Journal of Genetic Counseling defines it without decoration: “Sponsored genetic testing is where a non-traditional payer (e.g., pharmaceutical company, patient advocacy group) covers the cost of diagnostic genetic testing for a qualified individual in exchange for patient data.”
That exchange is the business. It is legal, widespread, and under federal scrutiny. HHS-OIG issued favorable advisory opinions on sponsored testing in April 2022 and December 2024, while the Department of Justice pursued sponsors it believed had crossed into inducement. In November 2024, QOL Medical and its chief executive paid $47 million to settle allegations over free testing tied to one of its drugs. The detail that mattered: the company got the ordering clinician’s name and passed it to its sales force.
Two PhDs and a phenotype problem
Lange trained as a chemical engineer in Germany, then went to Oxford as a Rhodes scholar for a doctorate in bioinformatics and genetics. He worked on the 100,000 Genomes Project and hit the same wall every time. “To me, the fact that it takes years, innumerable tests, and appointments with many specialists seems like a crazy fluke of the healthcare system.”
His co-founder Harley Katz holds a doctorate from Cambridge in theoretical astrophysics. The two had been writing algorithms to pull phenotype terms out of clinical letters. It did not work on hospital records. At a conference in 2018 they met a parent whose child was diagnosed with Batten disease after years of being described as autistic, unable to climb stairs, having seizures. The data they wanted was not in the chart. It was in the family.
They went through Y Combinator in the Winter 2019 batch, listed at demo day as a Karlsruhe, Germany company selling direct to consumer DNA tests. The first product targeted children already diagnosed with autism. Backers named by TechCrunch that June: Khosla Ventures, TenOneTen Ventures, the Oxford Angel Fund and angels. Lange would not say how much. “We measure ourselves by how many families we’ve helped, as opposed to how much money we’ve raised.”
From autism panels to a data platform
By 2023 the company ran programs in five areas: mitochondrial disease, seizure disorders, dementias, immunodeficiencies and movement disorders. A patient completes a symptom assessment online, machine learning scores it, a telehealth physician decides whether a test is warranted, and a kit arrives in the post. Results take six to eight weeks and come with a board certified genetic counselor.
The sponsors began to be named. The United Mitochondrial Disease Foundation ran a pilot funded by UCB, stating that it received only aggregate de-identified data while Probably Genetic decided who qualified. The company’s own pricing post names X4 Pharmaceuticals as the partner behind its WHIM syndrome program, which looks for CXCR4 variants. The APBD Research Foundation, Chelsea’s Hope and TESS Research Foundation signed on as patient finding partners.
On August 31, 2026, ARPA-H named Probably Genetic one of four performer teams in RAPID, its rare disease AI program, with the University of North Carolina, Sage Bionetworks and FDNA. The program will invest up to $98.5 million over four and a half years. The company says its contract is worth up to $10 million.
What is proven, and what is still claimed
| Evidence | What the record shows | Source type |
|---|---|---|
| SEC Form D | CIK 0001999218, filed Nov 1, 2023. First sale Sep 20, 2023. Sold $10,719,968 of $10,719,976 offered, 21 accredited investors, Rule 506(b). Related persons: Lukas Lange and Emily Melton. The terms of service name Aiwa Health, Inc. as doing business as Probably Genetic. | Public record |
| ARPA-H RAPID | Named one of four performer teams on Aug 31, 2026. The agency gives a program total of up to $98.5 million over 4.5 years, not per team amounts. The $10 million figure is company-stated. | Public record |
| The laboratory | Company documents say tests run in a laboratory accredited by the College of American Pathologists and certified for high complexity testing under CLIA. No document found here names it. | Not found |
| Clinical record | No FDA 510(k) or PMA, no registered ClinicalTrials.gov study, and no PubMed hit under the company name, per records pulled Sep 23, 2026. Its business page says a “Peer-reviewed publication is in progress.” | Not found |
| Diagnostic yield | The sponsored programs page advertises “up to a 55% diagnostic yield” and “close-to-newborn screening accuracy.” No published study supports either. The same page still carries placeholder Latin text beside two other percentages. | Company-stated |
| What sponsors receive | The privacy policy lists what goes to sponsors: treating clinicians’ contact information, variant name and interpretation, symptoms, and disease predictions. Patient identifiable data needs a signed HIPAA authorization. Patients may opt out of certain sharing everywhere except a sponsored program. | Company-stated |
| Named sponsors | UCB funded the mitochondrial pilot with the United Mitochondrial Disease Foundation; X4 Pharmaceuticals is the named WHIM syndrome partner. Fifteen or more partners are claimed; the rest are unnamed. | Company and partner |
| Patients on the platform | Homepage says 200,000 plus, disease pages say 100,000 plus, the August 2026 release says more than 120,000. | Figures disagree |
| Year founded | Company pages state “Founded in 2018.” Lange dates it to 2019 in a 2023 interview, an investor profile says 2019, and Y Combinator lists the Winter 2019 batch. | Differs from founder account |
Read plainly: the access story is real and the filings are clean, but the performance claims are unaudited. A 55 percent yield would be high for any undiagnosed cohort, and no published study exists to check it. The privacy documents say more than the marketing does. The company tells patients that sponsors get de-identified data, and tells them elsewhere that their doctor’s contact details go to the sponsor too. Both are accurate. Only one appears on the pages most patients read.
What to watch
- The promised publication on the patient selection method, and whether it reports the 55 percent figure.
- Whether the laboratory performing the sequencing is ever named publicly.
- ARPA-H RAPID deliverables, and whether an obligation appears in federal spending data.
- Further HHS-OIG opinions or DOJ actions on patient initiated sponsored testing, a newer model than the clinician marketed programs the 2022 and 2024 opinions examined.
- A new Form D. The last one on record covers a round whose first sale was in September 2023.
In their words
“There is really low awareness still in the medical community for a lot of these diseases”
Lukas Lange, co-founder and CEO, TechCrunch, 2019 · Independent
“We measure ourselves by how many families we’ve helped, as opposed to how much money we’ve raised”
Lukas Lange, declining to give the seed amount, TechCrunch, 2019 · Independent
“To me, the fact that it takes years, innumerable tests, and appointments with many specialists seems like a crazy fluke of the healthcare system.”
Lukas Lange, Patient Worthy interview, 2023 · Interview
“This person saw an ad for our service on Facebook while they were hospitalized on a ventilator.”
Lukas Lange, Once Upon A Gene podcast, 2023 · Interview
“We’re funded by drug developers who are seeking to identify patients with specific conditions for treatment or clinical trials.”
Lukas Lange, Technology Networks AMA, 2025 · Company
“We are able to fund rare disease testing because our partners will pay for access to data on specific genetic variants.”
Probably Genetic pricing transparency post, 2026 · Company
“Examples of information shared through these programs include the treating clinicians’ contact information, variant name and interpretation, symptoms, and disease predictions.”
Probably Genetic sequencing privacy policy, last updated January 25, 2022 · Company
“Specifically, patients are exchanging data for the cost of the genetic test.”
Cleveland Clinic Journal of Medicine, March 2023 · Peer reviewed
Related companies
Sources
- Public recordForm D, Aiwa Health, Inc., CIK 0001999218
- Public recordARPA-H announces awards to advance AI for rare disease diagnosis, discovery, and treatment
- IndependentProbably Genetic helps families identify genetic conditions early with AI and DNA tests
- InterviewRare Community Profiles: Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases
- InterviewEpisode 181, Probably Genetic CEO Lukas Lange
- Peer reviewedThe cost of ‘free’: Advising patients about sponsored genetic testing
- IndependentNew HHS-OIG Guidance on Sponsored Genetic-Testing Programs
- InvestorEmily Melton investment list naming Probably Genetic
- PartnerUMDF Pilot Genetic Testing Project, naming UCB as funder
- CompanyGenetic Testing Pricing Transparency, naming X4 Pharmaceuticals
Profile researched and written by Healthcare Discovery. Last updated September 29, 2026.
