GeneTests-GeneClinics: Genetic testing information for a growing audience

“…GeneTests, 12 and its related database, GeneReviews, is a site intended primarily for practicing medical geneticists, but it also contains a range of educational materials to help health care providers understand the appropriate use of genetic counseling and testing. [22][23][24] GeneTests contains information on laboratory tests for inherited diseases, including directories of U.S. and international genetics clinics, and GeneReviews contains summaries relating genetic testing information to diagnosis, management, and genetic counseling of specific inherited diseases.…”

Section: Introductionmentioning

confidence: 99%

Design of Genetics Home Reference: A New NLM Consumer Health Resource

Mitchell

Fun

McCray

2004

J Am Med Inform Assoc

View full text Add to dashboard Cite

The authors have developed the Genetics Home Reference, a consumer resource that addresses the health implications of the Human Genome Project. The research results made possible by the Human Genome Project are being made available increasingly in scientific databases on the Internet, but, because of the often highly technical nature of these databases, they are not readily accessible to the lay public. The authors' goal is to provide a bridge between the clinical questions of the public and the richness of the data emanating from the Human Genome Project. The Genetics Home Reference currently focuses on single gene or polygenic conditions that are also topics on MEDLINEplus, the National Library of Medicine's primary consumer health site. As knowledge of genetics expands, the interrelationships between genes and diseases will continue to unfold, and the site will reflect these developments

show abstract

“…However, for these results to be used clinically they must be performed in CLIA-certified laboratories. The website GeneTests (www.genetests.org) serves as a genetic testing resource for the identification of genetic clinics and genetic testing laboratories offering both clinical and research genetic tests (73 ). As of May 2003, the GeneTests website data indicated that genetic tests are available for 962 diseases in either a clinical or research form and that, Table 1.…”

Section: Discussionmentioning

confidence: 99%

Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics

et al. 2003

View full text Add to dashboard Cite

Genetic testing is important for diagnosis and prediction of many diseases. The development of a clinical genetic test can be rapid for common disorders, but for rare genetic disorders this process can take years, if it occurs at all. We review the path from gene discovery to development of a clinical genetic test, using frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) as an example of a complex, rare genetic condition. An Institutional Review Boardapproved multidisciplinary research program was developed to identify patients with familial frontotemporal dementia. Genetic counseling is provided and DNA obtained to identify mutations associated with FTDP-17. In some cases it may be appropriate for individuals to be given the opportunity to learn information from the research study to prevent unnecessary diagnostic studies or the utilization of inappropriate therapies, and to make predictive testing possible. Mutations identified in a research laboratory must be confirmed in a clinical laboratory to be used clinically. To facilitate the development of clinical genetic testing for a rare disorder, it is useful for a research laboratory to partner with a clinical laboratory. Most clinical molecular assays are developed in research laboratories and must be properly validated. We conclude that the transition of genetic testing for rare diseases from the research laboratory to the clinical laboratory requires a validation process that maintains the quality-control elements necessary for genetic testing but is flexible enough to permit testing to be developed for the benefit of patients and families.

show abstract

GeneTests-GeneClinics: Genetic testing information for a growing audience

Cited by 68 publications

References 13 publications

Consensus Statement on Management of Intersex Disorders

Consensus Statement on Management of Intersex Disorders

Design of Genetics Home Reference: A New NLM Consumer Health Resource

Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics

Contact Info

Product

Resources

About