Common Questions about the Vanderbilt Undiagnosed Diseases Program

What is the goal of the Potocsnak 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), disorder or medical condition is one 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 program utilize?

The Center has access to many unique diagnostic tools that are not available clinically. Eligible patients undergo a screening evaluation visit which helps us determine if any of these would be useful in your case. Visit the center’s website to learn more about these resources.

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

Unfortunately, due to demand, we cannot see every patient who is referred to our program. We do our best to provide the appropriate resources to each patient, prioritizing 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. This may begin with a screening evaluation visit to determine if enrollment for deep-dive data analysis or research investigation may help.

You may be eligible for a screening evaluation visit if you have:

1. Objective (measurable) findings from previous medical tests and exams related to your symptoms; and
2. No diagnosis after a previously extensive work-up that includes evaluation by multiple specialists through the usual medical care process.

We likely can't accept you if you have:

1. Symptoms with no related test or exam results;
2. A previous diagnosis that explains your symptoms;
3. A medical condition that prevents you from being able to travel to attend outpatient appointments; or
4. No established, ongoing relationship with a referring provider who agrees continue to provide care during your evaluation.

For more information on who may be eligible for the program, visit the Eligibility Criteria page on the center’s website.

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 have a referral from a heath care provider who is familiar with their case (e.g. primary care doctor, specialist, physician assistant, nurse practitioner or genetic counselor). This person cannot be a family member.

For more information on how to apply, 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?

Eligible patients must travel to Vanderbilt University Medical Center for their initial outpatient screening evaluation. Most specialist visits and 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 our recommendations, patients may have visits that span the course of several days. If fully enrolled in the program, 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 of participating in the program?

There is no cost to apply to the program. However, if a patient is determined to be eligible for a screening evaluation visit or is fully enrolled in the program, those services are billed to the patient’s insurance.

Insurance covers many services, such as lab tests and diagnostic imaging, that are necessary parts of diagnosing rare diseases. Vanderbilt contracts with many, but not all, insurance companies. If Vanderbilt contracts with your insurance company and the policy covers your services, Vanderbilt will bill the insurance company for those services. We will work with your insurance company to get any preauthorizations needed before any appointments or tests. Services not covered by insurance will be billed to you. We will discuss the anticipated costs with you before you decide to participate in the program. Following this, if there are certain services that your insurance company will not cover, we will notify you of the cost before you receive the service.

Any travel and lodging costs associated with participation in the program are the responsibility of the patient. We do not accept Care Credit. 

See a list of plans considered in-network with Vanderbilt University Medical Center (VUMC). 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, 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, reach out to one of our team members.

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

No. Our team carefully reviews each application to determine whether the applicant meets our eligibility criteria. We will contact you and your referring health care provider once we have decided about your specific case.

How will I know your decision?

After we review your application, we 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 or participate in multiple undiagnosed diseases programs simultaneously. This is because we want to refrain from repeating evaluations and testing from 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, reach out to one of our team members.

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 at Vanderbilt or another clinical site could still apply and be accepted to our program. If you have questions about whether to pursue application to our program, reach out to one of our team members. 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 my provider applies on my behalf?

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 we review your case. Once we have received your application, we will review it to see if it meets our eligibility criteria. Application review typically takes several weeks.

For more information on who may be eligible for the program, visit the Eligibility Criteria page on the center’s website.

What happens if I am determined to be eligible for a screening evaluation visit?

A staff member will contact you to discuss next steps to prepare for your screening evaluation visit. Our team will review your records to help us prepare for your visit to our Multi-disciplinary Undiagnosed Diseases Clinic in Nashville, Tennessee. After this review, one of our team members will work with you to schedule your screening evaluation visit. 

What happens if, after my screening evaluation visit, I am enrolled for further data and research analysis?

You will be asked to sign a program agreement and an IRB consent. Our team will then work with you and your referring provider to schedule any recommended evaluations and tests, including genetic testing (if indicated). We also may collect additional medical records for a deep dive into your prior workup. 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. Not all fully enrolled patients will see more than one provider or 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 some cases, yes. Changes in DNA cause many undiagnosed diseases. 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. 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 your 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 help you find the right team to manage your condition. We may, however, provide your care team with treatment recommendations based on our findings.