The CETT Program requirements that the test be translated using a CETT Collaborative Group, that information be provided on the possible health care impact or changes in the diagnostic pathway with testing, that the researcher and clinical laboratory coordinate activities, and that data on clinical symptoms be collected with each sample make the CETT Program a new paradigm of test translation. The application can be spearheaded by any member of the CETT Collaborative Group: clinical and/or research laboratories, clinicians studying the rare diseases, or disease-specific advocacy groups. Once the collaborative group has agreed to work together they can apply to the CETT Program for funds to develop new clinical tests for rare genetic diseases.

The CETT Program evolved out of a series of Rare Disease meetings (see Background). In the development process the CETT Program received the support of the following groups:

• American Society of Human Genetics (ASHG)
• American College of Medical Genetics (ACMG)
• Association for Molecular Pathology (AMP)
• Genetic Alliance (GA)
• National Organization of Rare Disorders (NORD)
• National Institutes of Health (NIH)
• Centers for Disease Control and Prevention (CDC)
• Health Resources and Services Administration (HRSA)
• Centers for Medicare/Medicaid Services (CMS)
• Human Genome Variation Society (HGVS)
• Food and Drug Administration (FDA)
• Society for Inherited Metabolic Diseases (SIMD)

Just as the CETT Program develops collaborations, the CETT Program Staff itself is a collaboration of people from diverse backgrounds. The CETT Program Staff includes a pediatric neurologist, a genetic counselor, two molecular geneticists, and a medical geneticist. The CETT Program Review Board includes genetic professionals who are clinicians and laboratory professionals, researchers, patient advocates, and primary health care providers.

The CETT Program Staff Includes:

Giovanna Spinella, M.D.
CETT Program Director

Andy Faucett, M.S., C.G.C.
CETT Program Coordinator

William A. Gahl, M.D., Ph.D.
CETT Program Scientific Advisor

Suzanne Hart, Ph.D.
CETT Program Scientific Advisor

Roberta Pagon, M.D.
CETT Program Review Board Coordinator

Lisa Forman, Ph.D.
National Library of Medicine’s National Center for Biotechnology Information (NCBI)

Kate Reed, M.P.H., Sc.M.
CETT Program Education Coordinator

The CETT Program Review Board Includes:

Leslie Biesecker, M.D.
National Human Genome Research Institute, NIH

Peter Byers, M.D.
University of Washington; American Society of Human Genetics

Tina M. Cowan, Ph.D.
Stanford Biochemical Genetics Laboratory

John Hardy, Ph.D.
National Institute on Aging, NIH

Howard Levy, M.D.
Johns Hopkins University

Rosalie Lewis
Dystonia Medical Research Foundation

Leigh LoPresti, M.D
Medical College of Wisconsin

Elaine Lyon, Ph.D.
Medical Director: ARUP Molecular Pathology Laboratories

Katherine McCurdy
Barth Syndrome Foundation, Inc.

Marshall Summar, M.D.
Medical Genetics, Vanderbilt

V. Reid Sutton, M.D.
Baylor College of Medicine in Houston

Dan Tagle, Ph.D.
National Institute of Neurological Disorders and Stroke, NIH

Tracy Trotter, M.D.
San Ramon Valley Primary Care

Vivianna Van Deerlin, M.D., Ph.D.
University of Pennsylvania Health System

Patricia Ward, M.S.
Baylor College of Medicine

Vicky Holets Whittemore, Ph.D.
Tuberous Sclerosis Alliance

Marc Williams, M.D.
Intermountain Health Care

The CETT Program Advocacy Mentors