Free genetic testing for rare diseases: complete price transparency guide

Getting a genetic test shouldn't mean choosing between answers and financial hardship. Unlike other genetic testing companies that can surprise families with bills of thousands of dollars, our free testing programs ensure eligible patients receive comprehensive testing at absolutely no cost.

Yes, it's truly no-cost if you're approved for one of our free testing programs.

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No-cost rare disease testing

It's no surprise that our healthcare system continues to face systemic problems with billing practices and communication. It is a surprise, however, to our patients and families, that our no-cost testing programs are truly just that; free genetic testing for patients approved for one of our programs. In this article, we will outline how we can offer free testing and provide clarity on what we collect and do not collect as a company, in the interest of full transparency regarding our billing practices.

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How free genetic testing works for rare disease patients

We partner with drug researchers, developers, and patient advocacy organizations to study and understand patient populations with specific genetic variants (or mutations). We achieve this by creating programs within specific disease areas, with the goal of helping to diagnose patients with specific genetic conditions where there is research being done to improve treatment options

As an example, we have a program for WHIM syndrome (warts, hypogammaglobulinemia, frequent infections, and myelokathexis), which is driven by mutations in the CXCR4 variant. We've partnered with X4 Pharmaceuticals to help identify patients who have CXCR4 variants through exome sequencing.

Our partners for each program receive de-identified and aggregate data, with a focus on target variant information and associated phenotypes. No personal information (or identifiable information) is shared, nor are any raw genetic data files. Probably Genetic keeps and securely protects all raw genetic data for patients.

We are able to fund rare disease testing because our partners will pay for access to data on specific genetic variants. If this feels concerning in any way, it's important to remember that if drug developers or researchers do not understand the genetic variants or better understand the prevalence of specific conditions, they cannot develop and launch effective therapeutics for those gene mutations. One of the most important ways our business model contributes to the rare disease community is that life-saving therapies may be developed and distributed by enabling a better understanding of these critical disease-causing variants, helping to end the diagnostic odyssey for many families.

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How to get free rare disease testing

Patients can apply for the free testing programs online at chat.probablygenetic.com. Patients, or caregivers, will be asked to share what symptoms they are experiencing as well as diagnoses or testing results, which will help us understand if there is overlap with any of the conditions we are actively working on. If an individual is approved for a no-cost testing program, they will be sent a sample collection kit in the mai,l and they will be asked to return a sample right away by shipping it in the return kit. If an individual is not approved for a no-cost testing program, they will be added to our waitlist to be considered for future opportunities where they may be a match.

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What information we collect vs. what we don't

We DO ask for the following information from patients:

• Symptoms
• Current/previous diagnoses and/or diagnostic testing results
• Shipping address and contact information (for sending the sample collection kit)
• Physician information (to comply with telehealth requirements)
• Photo (optional, but this does help with eligibility, given some conditions have unique facial features)

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We DO NOT ask for the following information from patients:

• Any financial information, including bank or credit card information
• Any health insurance information, including any insurer or plan information
• Billing address (we only require the address for shipping the sample collection kit)

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5 simple steps to apply for no-cost genetic testing

1. Complete a quick and free symptom assessment at chat.probablygenetic.com
2. If approved, collect a cheek or saliva sample from home using Probably Genetic's provided test kit
3. Return your sample to the lab using the provided return shipping label
4. Wait 6-8 weeks for your results to be ready
5. Review your results and discuss them with a board-certified genetic counselor in a complimentary virtual appointment.

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Frequently asked questions about free genetic testing

Can you get genetic testing done for free?

Yes, through Probably Genetic's free testing programs, eligible patients can receive comprehensive exome or genome sequencing at no cost. Our programs are funded by research partnerships focused on specific rare diseases and genetic conditions.

What conditions can be identified by comprehensive genetic testing?

Our genetic testing can identify mutations associated with thousands of genetic conditions, including metabolic disorders, immunodeficiencies, neurological conditions, and other inherited diseases. While we approve patients based on the programs we are running, our testing covers all conditions and abnormalities that can be detected by either WES or WGS, not just those conditions that we are currently researching. 

Does insurance cover genetic testing?

Our free testing programs eliminate the need for insurance coverage. Eligible patients will:

• Receive testing at no cost
• Receive genetic counseling following testing at no cost 
• Have their test order signed off by a clinical, telehealth provider 
• Avoid the complexity and potential surprise bills that can come with insurance-based genetic testing 
• Receive the same clinical-grade genetic testing that would be provided through an insurance-based process 

Insurance coverage is a possible option for patients if they do not move forward with free testing or are not eligible for a no-cost testing program.

Insurance coverage for whole exome sequencing (WES) and whole genome sequencing (WGS) varies depending on:

• Insurance provider and plan
  
• Clinical symptom presentation and patient health history
  
• Age of the patient (e.g., pediatric vs. adult cases) and age at onset of symptoms
  
  

Some insurers will cover WES or WGS if:c

• The patient has a suspected genetic disorder where previous genetic tests (like single gene tests or gene panels) have been inconclusive or negative, yet clinical suspicion remains high
• The condition presents as a rare disease, undiagnosed syndrome, or a complex multi-system disorder with atypical symptoms that don't fit standard diagnostic criteria.\
• There is clear clinical utility and medical necessity, meaning the genetic testing results will directly inform treatment decisions, medical management, family planning, or access to targeted therapies. 

What is the purpose of genetic testing?

Genetic testing for rare diseases helps end the diagnostic odyssey by identifying the underlying genetic cause of unexplained symptoms. Comprehensive genomic testing, like whole-exome sequencing, can provide life-changing answers that lead to:

• Accurate diagnosis and personalized medical management - Understanding your specific genetic condition allows doctors to develop targeted treatment plans and monitor for known complications
• Access to targeted treatments, medications, and clinical trials - Many genetic conditions have specific therapies available, and ongoing research may offer new treatment options
• Informed family planning and genetic counseling - Results help families understand inheritance patterns and recurrence risks for future children
• Connection with condition-specific support networks - Finding your genetic diagnosis connects you with patient advocacy groups, specialized medical centers, and families facing similar challenges.

Start your free rare disease genetic testing assessment - no hidden costs, ever.

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Ready to take the next step in your diagnostic journey? Our comprehensive genomic testing program has helped countless families find answers through our no-cost testing initiatives.

Apply Now at chat.probablygenetic.com

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All tests are performed in CAP/CLIA-certified laboratories, ordered by licensed physicians, and include genetic counseling with board-certified genetic counselors.

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