The Departmental Roadmap

III. Clinical Research and Patient Care Activities

Recommendations for Clinical Research

To maintain and expand our position of leadership in Clinical Genetics, the Roadmap Committee recognizes the need to support our clinicians and clinical programs. To this end, the Roadmap Committee makes the following recommendations:

1. Organization of Clinical Research and Patient Care for Inherited Metabolic Diseases
2. Biochemical Genetics Recruitment
3. Genetic Testing and Counseling
4. Diagnostic Laboratories

1. Organization of Clinical Research and Patient Care for Inherited Metabolic Diseases

The current disease-specific paradigm governing clinical research in the Department should be changed to a more centralized clinical program with disease-specific experts. In this way, there will be more effective use of resources and staff, and patient coverage will be shared. The structure of the clinical research and clinical trial programs should be reviewed with the aim of centralized coordination, especially when possible for routine patient care, as well as for the conduct of clinical trials.

2. Biochemical Genetics Recruitment

A new Associate or Full Professor with federal funding in the area of inborn errors of metabolism should be recruited to coordinate the Clinical Biochemical Genetics Program. This individual will oversee and expand the clinical, clinical research, and diagnostic activities, and provide leadership for the programs devoted to the care and investigation of metabolic disorders.

3. Genetic Testing and Counseling

The NIH Ethical, Legal and Social Implications (ELSI) Branch of the Human Genome Project has identified clinical research programs directed at studying the quality assurance and clinical issues associated with genetic testing, as well as the design and development of genetic counseling models for predisposition testing, as two important areas for the next decade. Our faculty already has substantial expertise in these areas, and has obtained external funding to support these activities. The Roadmap Committee recommends that these activities be expanded further in order to enhance our efforts to continue to attract competitive funding through the ELSI mechanism.

4. Diagnostic Laboratories

The diagnostic menu in our clinical laboratories should be expanded to include the porphyrias and other genetic disorders. Also, the molecular diagnostic laboratory should develop pharmacogenetic tests that will be useful to Mount Sinai's physicians. In addition, it is recommended that the operational infrastructure and marketing of the clinical laboratories be upgraded to maintain our competitiveness and accommodate this expanded menu.