The May 2008 edition (Volume 10, Number 5) of Genetics in Medicine includes seven commentaries and articles on issues critical to the translation of rare disease genetic tests from research to clinical laboratories. www.geneticsinmedicine.org

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program. William Andrew Faucett, MS, Suzanne Hart, PhD, Roberta A. Pagon, MD, Lisa Forman Neall, PhD, and Giovanna Spinella, MD: page 343 – 348.
This original article describes the NIH Office of Rare Diseases pilot program to increase and improve the translation of genetic tests for rare diseases from research laboratories to clinical laboratories. The article discusses the new paradigm of collaboration created by the CETT Program.

Issues in genetic testing for ultra-rare diseases: background and introduction. David H. Ledbetter, PhD, and W. Andrew Faucett, MS: page 309 – 313.
This commentary summarizes the previous national advisory group suggestions for rare disease translation and the series of national workshops coordinated by a group of clinical laboratory directors, the CDC and the NIH Office of Rare Diseases. These meetings resulted in the creation of the CETT Program and the National Laboratory Network for Rare Disease Testing.

Gene patenting and licensing: the role of academic researchers and advocacy groups. David Ledbetter, PhD: page 314 – 319.
This commentary discusses the issue of gene patenting and the impact on the development of clinical genetic testing. The focus is on the licensing of gene patents and encourages the use of nonexclusive licensing strategies.

New quality assurance standards for rare disease testing. Wayne W. Grody, MD, PhD, and C. Sue Richards, PhD: page 320 – 324.
This commentary discusses the need for and importance of the new quality assurance standards for rare disease testing published by ACMG in 2007. The article provides a summary of the recommendations.

Developing a national collaborative study system for rare genetic diseases. Michael S. Watson, PhD, Charles Epstein, MD, R. Rodney Howell, MD, Marilyn C. Jone, MD, Bruce R. Korf, MD, PhD, Edward r. B. McCabe, MD, PhD, and Joe Leigh Simpson, MD: Page 325 – 329.
This commentary reports on the national meeting held on February 19 – 20, 2007 which resulted in a set of proposed principles and associated recommendations to create an extensive collaboration to collect clinical and mutation data to improve clinical care and therapies for persons with rare genetic diseases.

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. S. Das, PhD, Sherri J. Bale, PhD, and David H. Ledbetter, PhD: Page 332 – 336.
This original article describes two successful models for partnerships between research laboratories and CLIA-certified clinical molecular diagnostic laboratories. Both models illustrate that molecular genetic testing for very rare diseases can be performed in a high-quality setting in a financially self-sustaining or even profitable manner.

Molecular testing: improving patient care through partnering with laboratory genetic counselors. Cheryl Scacheri, MS, Joy B. Redman, MS, Lisa Pike-Buchanan, ScM, and Kelle Steenblock, MS: Page 337 – 342.
This original article describes the roles and responsibilities of genetic counselors who work in the customer service area of molecular diagnostic laboratories. Real cases are used to illustrate laboratory testing issues and provide practical ways in which clinicians and laboratory personnel can work together to improve testing.