Common Questions about the Vanderbilt Undiagnosed Diseases Program
What is the goal of the program?
Our goal is to provide answers for patients affected by undiagnosed medical conditions.
How does the program 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.
Who is eligible for the program?
Due to demand, we unfortunately cannot see every patient who is referred to our program. The Vanderbilt Undiagnosed Diseases Program sees both adult and pediatric patients, but 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.
You may be eligible if you have
- Objective (measurable) findings from previous medical tests and exams related to your symptoms; and
- No diagnosis after a previously extensive work-up that includes evaluation by multiple specialists through the usual medical care processes.
We likely can’t accept you if you have
- Symptoms with no related test or exam results;
- A previous diagnosis that explains your symptoms;
- A diagnosis suggested after we review your medical records
Patients who have not had a previously extensive work-up will likely be deferred to the appropriate specialist(s) prior to consideration for our program. Those patients eligible for the program must be willing to provide information as well as biological samples (e.g. blood, urine, skin, or other tissue) which we believe may be helpful in providing answers for a patient’s case. Parts of our program may have additional consents for further research approaches we might want to use. Accepted patients may be required to review and sign consents outside of normal clinical testing.
If upon review of the application the VUDP concludes that our program’s resources and expertise are not appropriate, or if it is determined that is unlikely that we would reach a diagnosis beyond what has already been done, the VUDP may be able to offer alternative recommendations that might be beneficial to the patient.
How do I apply to the program?
We do not accept self-referrals. Your doctor must send us a letter recommending you to the program. The letter must include:
- A summary of your medical problems
- Previous diagnoses, if any
- Description of medical evaluations
- Results from tests run in search of a diagnosis
- Relevant family history
- Description of your doctor’s attempts to diagnose your condition
- Insurance / patient demographic information
I don’t have insurance. May I still apply?
Due to the cost of the tests we must do as part of the diagnosis process, we are only able to offer this program to individuals who either have insurance or sign an agreement to pre-pay for all necessary services. We aim to minimize your out-of-pocket costs as much as possible. However, there is a program administrative fee that insurance does not cover and must be paid in advance.
What happens after I apply?
Once we receive your application, our staff will send you or your doctor a confirmation letting you know it was received. We will let you or your doctor know if we need more information before it can be reviewed. Once we have received a referral letter and all supporting documents, your application will be reviewed. It typically takes several weeks to review an application.
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, you can ask for another review. However, there is no guarantee our decision will change.
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. We will work with you to schedule any additional 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 weeks. If your case requires genetic testing, those results and their different analyses can take several months.
Will you test my DNA?
In most cases, yes. Changes in DNA cause many undiagnosed diseases. Our hope is that DNA testing will help our team diagnose your condition. 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.
Will your evaluation give me a diagnosis?
Providing each patient with a diagnosis is our goal. We cannot promise all patients will get a diagnosis. However, 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 focus of the Undiagnosed Diseases Program is diagnosis, not treatment. After we complete our evaluations and provide you and your doctor the results, we will work with your doctor to find the right team to manage your condition. We may, however, provide your care team with treatment recommendations.
What is the cost for participating in the program?
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. If we accept you into the program, you will also be charged an administrative fee for program costs not covered by insurance. We will discuss costs with you up front, so you will be prepared.
I am confused about the administrative fee. Why do I have to pay that?
The Undiagnosed Diseases Program includes work our team of over 30 scientists, physicians, and staff members do that insurance does not cover. Our approach to evaluation of program participants includes a detailed review of patient records with similar symptoms and use of unique Vanderbilt resources not available elsewhere. Insurance plans do not cover the cost of this special review. Our approach makes it more likely that we’ll find answers for you. But the cost of these services must be covered, and the only way to do that is to charge an administrative fee.