NIAID Clinical Center Genomics Opportunity (CCGO) Study

Background: - There are many types of immune disorders. These range from rare immune deficiencies to allergies to autoimmune disease like rheumatoid arthritis. Genes are the instructions our body uses to work and develop. A new technology called whole exome sequencing may help find the cause of these disorders. Whole exome sequencing is a way to look at many genes at once for errors. Researchers hope to find new gene changes that lead to immune disorders. Additionally, researchers are interested in finding the best way to manage unexpected but important findings by whole exome sequencing. Objectives: - To better understand genetic causes of immune system disorders. Also, to better understand people s thoughts and feelings about immune system disorders and new genomic testing. Eligibility: - People ages 0 100 with an immune disorder or a relative with an immune disorder. People must be at least 2 to be evaluated at the NIH clinical center. People must be at least 12 to do the survey/interview portion of the study. Design: Participants will have their genes sequenced. They may be asked for a new sample of blood. If participants cannot come for a study visit, they can have a blood sample collected by their local lab or doctor and sent by mail. Researchers may or may not find the cause of the participant s immune disorder. Participants will learn that information. Some participants may be asked to return to NIH to get results and have more tests. Researchers may share information with other studies. The data will be anonymous. For the survey part of the study, participants will answer questions about their or their relative s immune disorder. They will also answer about their thoughts and feelings about genomic testing. Some participants will be asked for a brief interview to ask more about the survey topics. There may be more follow-up after several months. From clinicaltrials.gov]]>
Inclusion Criteria. The following inclusion criteria apply to all research participants on this protocol: Age 0-100 years old. Clinical evaluation at the NIHCC requires age >2 years. Affected relatives <2 years of age may be included in genetic family studies despite the fact that he/she is too young for evaluation at the clinical center. Including affected relatives in family-based whole exome sequencing is critically important, even if the study team has to rely only on medical records because NIHCC evaluation is not permitted due to age. Willingness to allow sharing of genetic information in shared controlled access databases like dbGaP. Willingness to receive secondary finding report. Probands (i.e., affected individuals serving as the starting point for genetic study of a family) must have: Primary enrollment on a NIH Institutional Review Board (IRB) approved protocol (e.g., 05-I-0213 or 93-I-0063), which will execute the majority of clinical and research evaluations. A suspected genetic basis for the presenting immune disorder with features including but not limited to autoimmunity, autoinflammatory conditions, lymphadenopathy, end-organ dysfunction, unusual infections, allergies, or laboratory abnormalities consistent with immune dysregulation that has not been previously identified and/or with a family history suggesting genetically-based immune dysfunction (e.g., similar phenotypes among relatives and/or consanguinity). Exclusion Criteria. Any participant can be excluded for the following: Any condition which in the opinion of the investigator may interfere with the research that is the focus of this protocol. ]]>
CCGO History: The NIH Office of Intramural Research (OIR), the National Human Genome Research Institute (NHGRI), the Deputy Director of Intramural Research, and the NIH Clinical Center are co-sponsoring a program to promote precision medicine and spur the development of infrastructure to support clinical genomics in the NIH Clinical Center. The program provides an exciting opportunity for the Institutes that participate in the NIH Clinical Center to develop capabilities within their Institutes to effectively use genomic data in clinical research and clinical care. Genomics is a rapidly changing discipline and new technologic capabilities are being developed at an ever-increasing pace. Our near-term objective is to build infrastructure and approaches with today's technology, with a vision that this will evolve toward comprehensive genomic evaluations in the future. To initiate this program, we will offer partnering institutes access to subsidized exome sequence data on a total of 1,000 NIH Clinical Center patients. The program includes generous support from several sources: a monetary subsidy of $600 per exome from the Director's Challenge Innovation Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical support from NHGRI regarding incidental findings analysis and counseling, and support from the NIH Clinical Center for sample processing. There will be no cost to the investigator for the exome sequencing. We are aiming to partner with a handful of Investigators in this pilot development program. Investigators are encouraged to propose projects for consideration that will be selected, based on several attributes. The goal is to select a set of projects that optimally exploit NIH Clinical Center phenotyping resources, leverage clinical, scientific, and bioinformatic resources within the Institutes, have a strong potential for scientific discovery, and will catalyze infrastructure development within the NIH Clinical Center and Institutes for clinical genomic sequencing in the future.]]>