FAQ

What is the goal of the Potoscnak Center for Undiagnosed and Rare Disorders at Vanderbilt?

Our goal is to provide answers for patients affected by undiagnosed medical conditions.

How does the center try to meet this goal?

Our team members try to solve the most challenging medical cases with the help of Vanderbilt’s researchers and experts in genomics, informatics, and medicine.

What is an undiagnosed disease?

An undiagnosed disease (UD) is a disease, disorder or medical condition that doctors have not yet been able to name or treat because the usual tests and exams have not provided sufficient answers.

What type of unique diagnostic tools does the Potoscnak Center for Undiagnosed and Rare Disorders utilize?

The Center has access to many unique diagnostic tools that are not available clinically. Please visit the Our Methodology page to learn more about these resources.

Who is eligible to apply to the Potocsnak Center for Undiagnosed and Rare Disorders?

Due to demand, we unfortunately cannot see every patient who is referred to our program. The Center sees both adult and pediatric patients, but we typically must limit our services to those patients living with rare or undiagnosed diseases resulting in multisystem dysfunction, functional impairment or severity of symptoms that significantly affects their quality of life. For more information on who may be eligible for the program, please visit our Eligibility Criteria page.

Do I have to be referred to the program by a medical provider or can I apply independently?

We do not accept self-referrals. All patients interested in our program must be referred by a heath care provider who is familiar with their case (i.e. primary care doctor, specialist, physician assistant, nurse practitioner, or genetic counselor). For more information on how to apply, please visit the How to Apply page.

Do I have to travel to Vanderbilt University Medical Center to participate in the program, or is telehealth an option?

Patients who apply and are accepted into the program should expect to travel to Vanderbilt University Medical Center at least once for evaluation during their participation in the program. Most specialist visits and/or testing that are recommended as part of participation in our program take place in Nashville, Tennessee at the Vanderbilt University Medical Center campus or one of our satellite clinics. We try to consolidate visits as much as possible to limit the amount of time you are on-site; however, depending on what is being recommended it is possible that patients may have visits that span the course of several days. It is also possible that patients may need to return for additional visits. Due to state licensing laws, telemedicine for our out-of-state patients is generally not an option. Telemedicine for in-state patients is offered on a case-by-case basis and is dependent on the type of visit and reason for evaluation.

What is the cost for participating in the program?

There is no cost to submit an application to the program. However, those patients who are reviewed and accepted into the program are required to pay an administrative fee in advance of participation.

The administrative fee is separate from any clinically available services performed throughout a patient’s participation in the program, which are then billed to the patient’s insurance. Insurance covers many services, such as lab tests and diagnostic imaging, that are necessary for diagnosing rare diseases. Vanderbilt contracts with many, but not all, insurance companies, and not all insurance policies cover all services. We will let you know if Vanderbilt is an in-network provider for your insurance and what services your insurance may not cover. We will get any needed prior-authorizations from your insurance provider before we evaluate you. You will be responsible for any co-pays, deductibles or co-insurance, and all charges your insurance does not cover. Any travel and lodging costs associated with participation in the program are the responsibility of the patient.

For a list of plans that are considered in-network with Vanderbilt University Medical Center (VUMC): https://www.vanderbilthealth.com/insurance/insurance-plans. We encourage you to contact your insurance company to verify your coverage for care delivered at a Vanderbilt.

For more information regarding anticipated costs for participation in the program, please reach out to one of our team members.

I don’t have insurance. May I still apply?

Due to the cost of evaluations and testing associated with our diagnostic process, we are only able to offer this program to individuals who either have in-network insurance or sign an agreement to pre-pay for all necessary services. These situations are handled on a case-by-case basis. If you have further questions, please reach out to one of our team members to discuss your situation in more detail.

Why do I have to pay an administrative fee?

Participation in our program includes work from a team of over 30 scientists, physicians, and staff members that insurance does not cover. Our approach to evaluation of program participants includes in-depth review of a patient’s past and current medical records as well as the use of unique, researched-based Vanderbilt resources not available elsewhere. Our approach makes it more likely that we’ll find answers for you, however this type of comprehensive work-up is not associated with a CPT code and therefore not something we are able to bill to a patient’s insurance plan. If you have Health Savings Account (HSA) or Flexible Spending Account (FSA), you should talk to your account administrator to determine whether your funds would cover that type of expense. We do not accept CareCredit.

Do you offer scholarships or financial assistance for the administrative fee?

Unfortunately, we currently are unable to offer any scholarships or financial assistance for the program’s administrative fee. If you are already eligible for help under VUMC’s financial assistance policy, that may help you with other costs associated with our program, however our administrative fee is excluded from the list of eligible health care services under the financial assistance policy and therefore not eligible for any discount.

The Center has a small amount of funding from the National Institutes of Health (NIH) to see patients who apply and are accepted into the Undiagnosed Diseases Network (UDN), which is an NIH-funded research study. The acceptance criteria for the UDN program is more stringent, and they can only accept a very limited number of patients each year. Patients who are interested in applying to or learning more about the UDN study should visit their website at http://undiagnosed.hms.harvard.edu/, or call 1-844-746-4836 (1-844-Ring-UDN).

If I complete an application, will I automatically be accepted?

No. Our team carefully reviews each application to determine whether or not an application will be accepted. You and your referring health care provider will be contacted once we have made a decision regarding your specific case.

How will I know your decision?

Once your application has been reviewed, our staff will contact you and your doctor.

If my application is not accepted, can I ask you to review it again?

If you have new medical information since your initial application, your provider can send us that information and can ask for another review. However, there is no guarantee our decision will change.

Can I apply to the Potocsnak Center for Undiagnosed and Rare Disorders and another diagnostic program at the same time?

We do not currently encourage patients to apply to/participate in multiple undiagnosed diseases programs simultaneously. This is because we want to refrain from repeating evaluations and testing that are being completed by another program as this can cause confusion with the patient’s current clinical team(s) and lead to additional financial burden for the patient. Should you have further questions regarding this, please reach out to one of our team members via e-mail or voicemail to discuss your specific situation in more detail.

Can I still apply to this program if I previously applied to the Undiagnosed Diseases Network (UDN) and was not accepted?

Yes. There may be instances in which someone who was not accepted into the UDN either at Vanderbilt or one of the other clinical sites could still apply and be accepted to our program. If you have questions about whether or not you should pursue application to our program, please reach out to one of our team members to discuss your situation in more detail. While we will review a case that was not accepted into the UDN, there is no guarantee that we will accept the case in our program.

What happens after I apply?

Once we receive your application, our staff will contact you and your referring health care provider to guide you through the next steps. We will let you or your health care provider know if we need more information before your case can be reviewed. Once we have received your application, we will review it to see if it meets our eligibility criteria. It typically takes several weeks to review an application. For more information regarding eligibility, visit our Eligibility Criteria page.

What happens if I am accepted into the program?

A staff member will contact you to discuss your acceptance into the program, as well as next steps. You will be asked to sign a program agreement and may be asked to sign an IRB consent. Once we receive your signed document(s), our finance team will reach out to collect the administrative fee.

Once participation begins, we will reach out to begin collection of your medical records. Once received, an in-depth review of your current and past medical records will take place to help us prepare for your visit to our multi-disciplinary Undiagnosed Diseases Clinic in Nashville, Tennessee. We will work with you to schedule any recommended evaluations and tests, including genetic testing (if indicated). Based on your symptoms, you may see more than one medical specialist at Vanderbilt for an evaluation. Each doctor or specialist may ask for additional tests. Completing the evaluations with different specialists may take several days or more than one visit. If your case requires genetic testing, those results and their different analyses can take several months. It’s important to note, not all accepted patients will see a multitude of providers and not all patients will have genetic testing. Depending on your specific case, there may be an opportunity for you to participate in further research studies. 

Will you test my DNA?

In many cases, yes. Changes in DNA cause many undiagnosed diseases. Our hope is that DNA testing will help our team diagnose your condition. If genetic testing is indicated for your case, we will tell you how we plan to use your DNA before we analyze it. If they are available and willing to participate, your biological family members may also be asked to provide DNA samples for testing. DNA testing may occur at any point in the program, but the cost for such testing is not included in the program’s administrative fee. Many insurance companies still do not cover DNA testing such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), especially for adult patients. We will discuss any anticipated out-of-pocket costs with you should DNA testing be indicated in your case.

Will evaluation in the program give me a diagnosis?

Providing each patient with a diagnosis is our center’s goal. While we cannot promise all patients will get a diagnosis, we do promise that we will use the best medical science and experts available at Vanderbilt to work toward that goal.

Will you treat my condition if you diagnose it?

The Potocsnak Center for Undiagnosed and Rare Disorders is focused on diagnosis, not treatment. Treatment will remain you and your health care provider’s responsibility during and after participation in our program. After participation, we will provide you and your referring provider with the results of our evaluation(s) and work with them to find the right team to manage your condition. We may, however, provide your care team with treatment recommendations based on our findings.