A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program

被引：14

作者：

Faucett, William Andrew ^{[1
]}

Hart, Suzanne ^{[2
]}

Pagon, Roberta A. ^{[3
]}

Neall, Lisa Forman ^{[4
]}

Spinella, Giovanna ^{[5
]}

机构：

[1] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

[2] NHGRI, NIH, Bethesda, MD 20892 USA

[3] Univ Washington, Dept Pediat & GeneTests, Seattle, WA 98195 USA

[4] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[5] NIH, Off Rare Dis, Bethesda, MD 20892 USA

来源：

GENETICS IN MEDICINE | 2008年 / 10卷 / 05期

关键词：

test translation; rare diseases; model program; CETT; CLIA;

D O I：

10.1097/GIM.0b013e318172837c

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 2006, The National Institutes of Health Office of Rare Diseases announced the Collaboration, Education, and Test Translation (CETT) Program, a pilot project to increase and improve the translation of genetic tests for rare diseases from research laboratories to clinical laboratories. The CETT Program created a new paradigm in which applicants must form a collaborative group consisting of a clinical laboratory, researcher, research laboratory, clinical expert, and disease-specific advocacy group. In addition, each collaborative group must assure that test results are written in a style and format appropriate for nonexpert clinicians; provide educational materials for clinicians and patients about the disease, as well as the use and limitations of the test in the care of persons with the disease; agree to collect clinical data necessary for test result interpretation; and store genotype information and clinical data in a publicly accessible deidentified database.

引用

页码：343 / 348

页数：6