To achieve its goals, the OCD focuses on the following areas:
- Providing expert clinical and administrative infrastructure for all NHGRI clinical research protocols, as well as basic science studies involving clinical specimens.
- Assuming an active role in the development and implementation of individual clinical research protocols and clinical research initiatives.
- Establishing a presence for NHGRI within the leadership of the National Institutes of Health (NIH) Clinical Center, and helping to integrate the goals of NHGRI's clinical staff with those of the NIH Clinical Center.
- Supporting NHGRI's training programs in Medical Genetics and Genetic Counseling.
Another important function of the OCD is assisting NHGRI's Institutional Review Board (IRB) in its task of ensuring the protection of participants in NHGRI clinical protocols or in basic science studies involving human specimens. The NHGRI IRB is now part of NIH's Internal Medicine I IRB.
To promote a spirit of collegiality and help maintain standards of excellence in clinical care, the OCD holds a weekly conference to review the clinical history of each patient participating in NHGRI protocols. Each week, the OCD also hosts a formal Clinical Genetics Conference for the clinical staff, faculty and medical genetics fellows to discuss extraordinary clinical cases or relevant genetics topics. The Clinical Director also conducts weekly walk rounds on in-house patients.
As part of its directive, the OCD is responsible for coordinating requests for genetic consults from physicians at the NIH Clinical Center and addressing public inquiries regarding clinical issues. The OCD receives many such requests and refers people to resources such as genetic counselors, support groups, medical experts and patient information centers at the NIH and elsewhere.
Since 2008, the OCD has hosted the intramural NIH Undiagnosed Diseases Program (UDP), now part of the Common Fund's Undiagnosed Diseases Network (UDN). The UDP has as its goal the diagnosis of patients whose disorders have long remained mysteries, and to advance medical science.