NHGRI logo

What does study participation look like?

We tailor study activities to meet clinical needs and a patient’s ability to participate, so each participant’s experience with the study will look a bit different.

For some patients, we may remotely collect samples for genetic testing and basic medical information. Others may need to travel to the National Institute’s of Health (NIH) Clinical Center for a more detailed clinical evaluation. Follow-up visits to the Clinical Center usually occur once a year, but this varies depending on treatment. Our clinic is also equipped for telehealth visits for those who are, on occasion, unable to come to the Clinical Center in person.

Study activities may include:

  • Complete history and physical examination, including a family history (conducted in person or remotely)
  • Blood work, including serum chemistries, inflammatory markers and immunologic and hematologic studies
  • Genetic testing (see separate FAQ)
  • Urine studies
  • Skin biopsy
  • Consultations from NIH specialists, such as neurology, gastroenterology, dermatology, hematology, renal, cardiology, pulmonology, ophthalmology, or audiology
  • Radiographic or imaging studies
  • Electrocardiograms
  • Diary of fevers and other clinical features of inflammation
  • Pediatrics Quality of Life Survey for parents of affected children
  • Leukapheresis (rare)
  • Research bone marrow aspiration and biopsy (rare; age 12 or older)

What genetic testing will you do as a part of the study?  

Our genes are like our body’s instruction manual. They tell us what we need to function and grow. We have about 20,000 genes, and each has a particular job in the body. Spelling errors (sometimes called variants or mutations) in the genes that work in our immune system can lead to autoinflammatory diseases.

If a person has clinical features that are highly suspicious for a given autoinflammatory disease, we can look at the genes that we know cause that disease in our lab. This testing will usually take between a few weeks to a month.

However, if a person has symptoms indicative of an autoinflammatory disease – but not a specific one – we may decide to test multiple genes at the same time. This may involve looking at several hundred genes that work in the immune system (called panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing produces a large amount of data, it may take more than a year for our lab to complete preliminary analysis. If preliminary analysis does not identify a specific genetic cause for a patient’s disease, we will continue to research their data in the lab and compare it to that of other patients with similar symptoms.

We are also able to perform several other research-based genetic tests including RNA sequencing, cytogenetics, comparative genomic hybridization, single nucleotide polymorphism (SNP), genome-wide association studies (GWAS) and deep sequencing for somatic genetic variants.

In most cases, these studies will be performed on blood samples; however, we may use samples from saliva, skin or bone marrow in some cases.

What results will I get from genetic testing?

We will report the results of testing for variants in known autoinflammatory disease genes, or newly discovered autoinflammatory disease genes, to you and your referring medical provider(s). These results will be confirmed in our own laboratory, which is CLIA-certified for genetic testing in the autoinflammatory diseases (CLIA certification number 21D0951395).

Sequencing results may take many months or even years to complete. Official reports will only be generated when we have found a genetic diagnosis. If you have questions about the status or results of your genetic testing, contact our genetic counselor, Natalie Deuitch, at any time.

With panel or exome/genome sequencing, we may come across changes in genes that are not related to a person’s autoinflammatory symptoms, but that could have implications for their health. Our study will only report secondary findings that the the American College of Medical Genetics and Genomics recommends for return. If we find one of these changes, our genetic counselor will contact you, and we may request an additional sample for verification in a CLIA-certified laboratory. You will be able to speak with our genetic counselor about the implications of these results and may also be referred to a local specialist.

I’ve already had exome/genome sequencing (or my home provider is in the process of ordering it). Do I need to do it again with you?

No! In fact, we prefer if you can have genetic testing completed outside of the NIH. In most cases, we can access the raw data (information that is not always shared on the report that you/your doctor receive) from the lab that did the testing. We will then reanalyze the data to look for specific changes associated with autoinflammatory diseases and compare your data to other individuals in our cohort. We may still ask you to provide us with a blood sample to confirm any changes we find.

Genetic testing is becoming much more available and can often be covered by insurance if ordered by a provider outside of the NIH as a part of clinical care. Given the volume of patients we have waiting to receive exome testing through our lab, it can take a long time for us to complete the testing in house. Receiving the initial raw data from an outside provider can greatly expedite the time it takes for us to analyze and get results back to you. This also allows us to triage our resources to advancing research and extending care to as many individuals as possible.

What happens to my samples in the lab?

In addition to clinical evaluations, we have a full biomedical research lab that is dedicated to understanding how autoinflammatory diseases work and how we can better treat them. Our lab performs genetic testing to diagnose patients, but it can also use several different functional studies to understand how a new genetic variant may lead to a person developing autoinflammatory symptoms. Samples provided by our participants are necessary to help built our knowledge of the human immune system and autoinflammation.

What is the relationship between my primary doctor and the NIH?

Your primary doctor and the NIH will collaborate with each other and will communicate about any changes to your medical care. If you don’t have a primary care team, we encourage you to establish care with one as soon as possible. The NIH study is meant to supplement the care that you already receive. 

Will I receive treatment for my autoinflammatory condition through this study?

Once we obtain all the clinical, diagnostic and genetic data needed, we will determine if treatment is warranted. In most cases, there is the possibility of obtaining FDA-approved targeted biologic treatments either through the NIH or through your insurance company in conjunction with the pharmaceutical company patient assistance program. Often, these FDA-approved targeted biologic treatments are not available in the general community because of the unwillingness of third-party payors to cover the costs of them for undiagnosed or relatively newly discovered diseases.

Are there costs associated with participating in this research?

As an enrolled patient on an NIH protocol, all of your care at the NIH Clinical Center is free, and your insurance will not be billed. Medical care at home does not change as a result of being enrolled in the study.

For those enrolled in our study and eligible for treatment, we may be able to provide appropriate biologics from the NIH Clinical Center pharmacy. In some cases, we can work with your primary care team to help to obtain medications through the pharmaceutical company sponsored patient assistance program.

Travel reimbursement will be provided based on a needs assessment from the Clinical Center Social Work department. For those who qualify, reimbursement or in-kind purchases will cover the cost of travel, lodging and food during the travel period. You may be asked to cover all or part of your travel costs to and from the NIH Clinical Center.

What information will the NIH clinic share with me about my health and the results of the overall study?

The NIH will share your clinical data with you and any outside medical providers at your request, and our online patient portal allows you to access your clinical data at your convenience. We will also provide genetic results to you as they become available from the lab.

We may publish de-identified information about you and other participants in the medical literature. We are happy to share any publications from our study with you, and we can discuss our findings during your clinic visits with our team. Genetic data may also be deidentified and shared in genetic databases such as dbGap in compliance with NIH regulations. This data will not be able to be traced back to you.

How will my data and my participation in the clinical study be kept anonymous?

Under the law and NIH policy, we anonymize your data when we share it for study purposes and additional research. The only people who will know you and your data are the staff members who directly take care of you or those who are investigators on the protocol. As in any medical profession, our staff members are trained and bound by law to keep clinical and research data confidential. Our collaborators only receive deidentified information unless you permit us to share it.

Last updated: July 9, 2021