Notice Number: NOT-RM-16-001
Release Date: October 9, 2015
Response Date: December 11, 2015
Office of Strategic Coordination (Common Fund)
This is a Request for Information (RFI) to solicit input regarding undiagnosed diseases research.
Rare and yet-to-be-described disorders are difficult problems for patients, their families, and their clinicians. The NIH Office of Rare Diseases Research notes that about 6% of patients seeking its assistance have an undiagnosed disease. For those who were ultimately diagnosed, as many as 15% had persistent symptoms without diagnosis for at least 5 years, a difficult and costly delay for the patient, family (including other afflicted family members and caregivers), and clinicians who struggle to identify and treat these disorders.
In addition, these patients present compelling research questions since clarification of the underlying genetics, biochemistry, and physiology of their disorders will lead to a better understanding of their disease processes and those of related disorders including common diseases. Advances in genetics, genomics and metabolomics have made it possible to gain insight into the causes of and potential targets for treatment of some of these diseases.
The NIH Undiagnosed Diseases Program (NIH-UDP) began in May 2008, in hopes of catalyzing research into unknown disease mechanisms and facilitating their diagnoses. From modest initial recruitment numbers, the NIH-UDP has over a six-year period received nearly 10,000 inquiries, reviewed more than 3,000 applications, and admitted 750 patients to the NIH Clinical Center for comprehensive weeklong evaluations. As these data reveal, even without a systematic approach to advertising the program, there is a substantial unmet demand for these capabilities. This need has led to the recent creation of the Common Fund Undiagnosed Diseases Network (UDN) involving seven UDN Clinical Sites (including the NIH-UDP), a Coordinating Center, 2 Sequencing Cores, a Model Organisms Screening Center, a Metabolomics Core, and a Central Biorepository that will be able to address more inquiries and potentially be more accessible to patients throughout the country.
The NIH seeks input from researchers, academic institutions, professional societies, patient advocacy groups, healthcare providers, payers, and other stakeholders on potential strategies for undiagnosed diseases research and the clinical and laboratory evaluation of undiagnosed patients. We invite comments on any or all of the following areas:
1. Key issues that currently limit undiagnosed diseases research and the clinical and laboratory evaluation of undiagnosed patients including but not limited to: access of individuals with undiagnosed diseases to appropriate specialists and diagnostic services, ability of clinicians caring for an individual who has been carefully phenotyped to connect with basic scientists with expertise in candidate mechanistic areas, difficulty in securing long term follow-up information and other barriers, if any, such as sharing sequence and phenotypic data from undiagnosed disease studies where patients may be an N of 1. We welcome responses that explain any issues that NIH should take into consideration.
2. Ideas for new strategies and other approaches that would increase the impact and sustainability of NIH-funded undiagnosed diseases research and the clinical and laboratory evaluation of undiagnosed patients.
3. Respondents are also encouraged to include discussion about criteria and/or metrics for evaluating the success of undiagnosed diseases research and the clinical and laboratory evaluation of undiagnosed patients.
4. Any other issues that respondents feel are relevant.
Responses will be accepted through December 11, 2015.
Responses must be submitted via email to firstname.lastname@example.org.
This RFI is for planning purposes only and should not be construed as a solicitation for applications or as an obligation on the part of the Government to provide support for any ideas identified in response to it. Please note that the United States Government will not pay for the preparation of any information submitted or for its use of that information.
The NIH will use the information submitted in response to this RFI at its discretion and will not provide comments to any responder's submission. Responses to the RFI may be reflected in future funding opportunity announcements and will be used in the long-term planning for the UDN. Responses will be compiled and shared internally and with working groups convened by the NIH, as appropriate. In all cases where responses are shared, unless the respondent indicates otherwise, the names of the respondents will be withheld. We look forward to your input and hope that you will share this document with your colleagues.
Please direct all inquiries to:
Anastasia L. Wise, PhD
National Human Genome Research Institute (NHGRI)