Terrified, isolated, exhausted, confused-–these words barely scratch the surface of the emotions someone feels when living with a rare, undiagnosed chronic illness. Countless people spend years trying to find answers for the symptoms plaguing their bodies, and are often misdiagnosed and poorly treated in the process. This diagnostic odyssey has inspired a particular group of patients, geneticists, and engineers to make genetic testing more accessible to rare disease patients. Their team, “Probably Genetic“, partners with patient advocacy groups and biotech companies to launch no-cost genetic testing programs because they’ve witnessed firsthand what patients endure.
The Benefits of Genetic Testing
For any person who is chronically ill and is unaware of the cause of their symptoms, genetic testing can beneficial for three key reasons:
#1 Receiving a confirmed diagnosis
All people with chronic illness wish to have an explanation for the symptoms they experience daily. The journey to receiving a diagnosis can be long, but access to genetic testing can help shorten it. Testing can provide a non-invasive path toward an indisputable answer, so that patients and their families can stop searching and move forward with a higher degree of certainty.
Although finding causative mutations is not guaranteed, this is not a reason to feel discouraged. If a disease-causing mutation is not identified in the current instance of testing, geneticists are able to reanalyze genetic data periodically, as scientific understanding advances. Genetics is an ever-evolving field, and new mutations are characterized regularly.
#2 Genetic results can guide treatment
Treatment for the undiagnosed is like a guessing game. Over time, prescribing one random medication after another proves frustrating and futile when it fails to improve the patient’s symptoms. However, if genetic testing leads to a diagnosis, then physicians are aware of what they are managing and can make better informed treatment decisions.
#3 Becoming proactive
Via genetic testing, patients can obtain knowledge that empowers them to be proactive about their health. Together with their medical team, they can learn what symptoms or developments to look for and how to better prepare for their future.
About Probably Genetic’s Program
Many people cannot access the genetic testing necessary for a diagnosis without outrageous costs or medical professionals being unwilling to order testing. That is why the opportunity for no-cost testing offered by Probably Genetic can be of such value to undiagnosed patients.
Probably Genetic has recently partnered with X4 Pharmaceuticals to launch a genetic testing program specifically for genetic immunodeficiencies. The program offers whole exome sequencing (WES) to those eligible at no cost. Since 85 percent of all known disease-causing mutations can be found through whole exome sequencing, this can be life-changing for rare disease patients.
All pathogenic, likely pathogenic, and variants of uncertain significance associated with the patient’s reported symptoms are reported, even if the mutations found aren’t related to immunodeficiency. Patients also receive a free virtual genetic counseling session to explain any findings.
How Do Patients Apply?
Eligibility is determined by completing a brief, patient and family-friendly online symptom checker. If an individual qualifies for no-cost testing based on their submission, they are notified via email, and a testing kit is sent to their home address. The test only requires a saliva sample, which is returned to the lab using a prepaid shipping box for convenience and to avoid exposure during a time the vulnerable are limiting social interactions due to the pandemic.
What Happens to the Results
Probably Genetic is the custodian of all patient data submitted through their programs, which means identifiable patient information is never shared with third parties without consent. They follow strict HIPAA guidelines and their entire testing pipeline is CLIA and CAP accredited.
Any data or learnings from the program shared with any third party is completely de-identified, and it is impossible to identify the original source of the submission. Patients can access all their information via an unique patient portal, where they can also opt for their sequencing results to be given to their physicians.
Is This a Clinical Trial?
No. The no-cost testing program is not a clinical trial, because no therapies or interventions are being tested and no research is being conducted. However, de-identified information generated by the programs can help advocacy groups and biotech companies better understand the patient experience for those living with rare and ultra-rare conditions. Examples include insights on the average wait for a diagnosis or the average symptom profile for a given condition. Thus, by participating in this program, patients can further rare disease knowledge in addition to potentially discovering the cause of their symptoms.
Cheyanne, Probably Genetic’s Community Manager and a rare disease patient herself, notes, “Receiving a confirmed diagnosis has been an immense help and has altered the entire trajectory of my medical care. Everything we do at Probably Genetic is in the hope of offering that opportunity to someone else.”
Determine Your Eligibility
Complete the Probably Genetic Symptom Checker for Primary Immunodeficiencies here.
Probably Genetic encourages you to visit the webpage for additional information on the program.
Author bio: Cheyanne is a rare disease patient, as well as the Community Manager for Probably Genetic. Her role involves handling all patient communications and advocacy group outreach.
Additional Reading: An article by a young woman with a rare genetic condition
Disclaimer: Patients Rising received no compensation for this article. It is shared because it makes a resource available to our patient community.
