During its first year of operation, the CETT Program identified several areas in rare genetic disease test translation that needed additional guidance and/or standards. Topics included laboratory issues, educational materials about new tests, molecular laboratory reports, and the posting of clinical test information to public databases. These issues were discussed with experts in rare disease testing and a diverse group of laboratories were surveyed on some of the issues. Model draft reports were developed for molecular testing of an autosomal recessive condition.

The CETT Program Staff and Review Board met on March 5, 2007, to review the program and discuss these issues. Invited experts joined the discussion on March 6, 2007.

Slide Presentations

• CETT Program Update
• Model Report Forms
• Laboratory Survey Results
• Laboratory Issues Summary
• Educational Materials
• Public Databases and Rare Disease Testing

Draft Model Laboratory Reports (Molecular / Autosomal Recessive)

• CETT draft one mutation AR report
• Version 1
• Version 2
• CETT draft no mutations AR report
• Version 1
• Version 2
• CETT draft two mutations AR report
• Version 1
• Version 2
• CETT draft VOUS AR report
• Version 1
• Version 2

Attendees March 6, 2007

Bernice A. Allitto, PhD, FACMG
Molecular Diagnostic Laboratory
Genzyme Genetics

Joann A. Boughman, PhD
American Society of Human Genetics

Katie T. Buck Corporate Affairs & Ethics
AFFYMETRIX, INC

Soma Das, PhD, FACMG
Department of Human Genetics

Melissa Dempsey, MS
The University of Chicago

Diane E. Dorman,
National Organization for Rare Disorders

Heather Ferguson, MS, CGC
GeneDx, Inc.

Pat Furlong
Parent Project Muscular Dystrophy

Wayne W. Grody, MD, PhD
Division of Medical Genetics and Molecular Pathology
Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics

Margaret L. Gulley, MD
Department of Pathology
University of North Carolina

Steve Gutmann,
Federal Drug Administration

Louanne Hudgins, MD
Division of Medical Genetics
Stanford University

Bruce Korf, MD, PhD
Department of Genetics
University of Alabama at Birmingham (UAB)

Ian Krantz, MD
Divison of Human Genetics and Molecular Biology
the Children's Hospital of Philadelphia

Marsha Lanes, MS, CGC
National Organization for Rare Disorders

David Ledbetter, PhD
Department of Human Genetics
University School of Medicine

Leigh Lopresti, MD
Department of Family and Community Medicine
Medical College of Wisconsin

Ira M. Lubin, PhD, FACMG
Laboratory Practice Evaluation and Genomics Branch
Division of Laboratory Systms, NCPDCID
Center for Disease Control and Precention

Penny Mattingly, MA, MT(ASCP)SBB
Centers for Medicare & Medicaid Services
CMSO/SGG/Division of Laboratory Services

Joseph D. McInerney,
National Coalition for Health Professional Education in Genetics

Victoria M. Pratt, PhD, FACMG
Quest Diagnostics-Nichols Institute

Edward Ramos, PhD
ASHG/NHGRI Genetics & Public Policy Fellow
Senator Barack Obama

Benjamin Roa, PhD
Myriad Genetic Laboratories, Inc

Elizabeth Stafford, PhD
Federal Drug Administration

Sharon F. Terry, MA
Genetic Alliance

Laura Weinstein,
Athena Diagnostics. Inc

Richard W. Whitten, MD, MBA, FACP
Medicare B for AK, HI & WA

Richard W. Whitten, MD, MBA, FACP
Medicare B for AK, HI & WA

Maimoona Zariwala, PhD, FACMG
Department of Pathology and Laboratory Medicine
University of North Carolina

The resources and education page is under construction. It will provide examples of educational material on issues such as the cost of genetic testing, mutations, importance of family history, genetic testing for children, testing and ethnic groups and other related subjects.