Unlock the power of your DNA with Probably Genetic — Your journey to health starts here.
Check eligibility
Rare diseases present some of the most complex challenges faced by the healthcare community. With over 7,000 known rare diseases and 400 million patients affected worldwide, the label of “rare” feels increasingly like a misnomer. For patients, caregivers, researchers, and physicians, these conditions often come with uncertainty, misdiagnoses, multiple physician consultations, and few targeted treatment options. Probably Genetic is working to change that reality.
When founder Lukas Lange was a genetics PhD student at Oxford, he was digging through thousands of documents of patient data to summarize their symptoms, diagnoses, and phenotype to identify them as rare disease patients. But he quickly found that no efficient way of gathering this information existed – even the best research hospitals in the world had fragmented medical records that were often compilations of handwritten doctor notes stored in different databases that didn’t “talk” to one another.
What made this analysis more difficult was the phenotypic information Lange needed to help deliver a diagnosis. A phenotype refers to observable traits of a patient, such as their physical characteristics or behaviors. While these are easy for a patient to report or a doctor to observe, phenotypic data is not all documented or stored in a consistent pattern.
“It was extremely frustrating,” said Lange. “There should be some way to gather all this information, and help us identify patients just by examining the data that already exists on them in these medical records. Right now, they’re just slipping through the cracks because there’s no way to look at this holistically.”
That’s when the idea for Probably Genetic took root. Lange decided to go straight to the source that has all the information in one place: the patient. The patient (or the patient’s caregiver) is excessively familiar with their phenotypic data, whether they’re aware of it or not. Examples of phenotypic data could be observable lumps on their tendons, slowed speech, or developing an uneven walking gait. By gathering this information in one place, Probably Genetic is able to build a database to help better identify other patients with similar symptom profiles.
Today, Probably Genetic helps individual patients find the answers they need through accessible, no-cost genetic testing while helping build a more integrated healthcare system for the future.
Probably Genetic offers free genetic testing to help individuals pinpoint the root cause of their symptoms while connecting them with vital resources, such as genetic counselors and patient advocacy groups. "If someone is sick, they should be able to figure out what's wrong and get help,” says Lange. “We want to make it that simple."
To begin, patients or their caregivers complete a brief online symptom assessment through our smart evaluation platform, ChatPG. ChatPG was built using large language models (LLMs), machine learning (ML), and smart filters to tailor the assessment to the patient's symptoms.
Based on the results, eligible individuals receive an at-home genetic testing kit with prepaid shipping, completely free of charge. Once the sample is processed, patients receive their results within eight weeks.
After receiving their results, patients are connected with a licensed genetic counselor to interpret those results and create a personalized treatment plan. We work with an expansive network of licensed genetic counselors across all 50 states, collectively speaking multiple languages. During this consultation, the counselor explains the test results, helping patients understand how their genetic variants may impact their health and what it could mean for their family members.
Most importantly, patients leave these sessions with clear next steps. This can include referrals to specialists, connections to patient advocacy groups, or information on ongoing clinical trials that may offer hope for future treatments.
This applies to patients who are seeking a diagnosis as well as those who have been previously diagnosed and are looking for additional resources. The patient-focused platform we've built allows us to find those patients and share information directly with them, closing the knowledge gap that can sometimes exist between the professional health industry and the patients it serves.
Today, countless researchers and pharmaceutical companies are working to develop treatments for rare diseases, but progress is slow due to fragmented systems and limited patient outreach. Probably Genetic is accelerating this process by creating a comprehensive healthcare data platform that integrates genetic data, symptom information, and anonymized patient profiles.
The platform then uses artificial intelligence to compare these inputs against large datasets of known rare genetic conditions, identifying patterns and correlations that point toward specific genetic diseases. Genetic testing often produces vast amounts of data, including genetic variants of unknown significance. The use of artificial intelligence helps classify and interpret these variants by cross-referencing databases, published research, and clinical evidence to determine whether a genetic mutation is likely causing the symptoms.
“People often view medicine as black and white: either there’s a cure for my condition or there isn’t,” says Lange. “But in reality, it’s much more dynamic. Right now, thousands of clinical trials are underway to develop new treatments, and sometimes even cures, for rare diseases. A diagnosis that seems untreatable today may have an approved drug next year—or even next month.”
Probably Genetic is using AI and at-home testing to identify 200 million patients with severe, complex diseases, then using our growing patient intelligence platform to connect those patients with essential resources and help accelerate drug development.
While the data we collect is essential for advancing research, we understand the importance of privacy and confidentiality. At Probably Genetic, we employ extensive security measures and hold ourselves to HIPAA standards to ensure that your data is kept confidential and fully de-identified—helping you find answers while keeping your identity protected.
We only share aggregated and de-identified data with our research partners. This means no names, addresses, or any other identifiable information is ever disclosed. As Lange emphasizes, “Pharma companies never need to know identifiable information about you. They don't need to know who you are. They don't want to know your name or birthday–none of that. What they do need to know is how many people are out there that have this disease and how many people have each type of genetic variant, because that is what really matters for drug development. They also want to know what types of symptoms are associated with these genetic variants, so that they can educate physicians and increase accurate clinical diagnoses in the future.”
By sharing de-identified data, we help pharmaceutical companies better understand the prevalence of certain diseases and the genetic variations linked to them. This knowledge is crucial for developing new treatments and educating physicians, ultimately leading to faster, more accurate diagnoses in the future.
Check your eligibility for no-cost genetic testing to get started today.
Over 100,000 patients have created a profile with Probably Genetic to confirm their eligibility for our free genetic testing and counseling programs.
.jpeg)