Development and integration of molecular genetic tests into clinical practice: the US experience

Expert Review of Molecular Diagnostics
Jean Amos, W W Grody

Abstract

The issues that arise in the development of genetic tests for prediction and diagnosis are described in the context of the authors' experience as laboratory directors in the USA. The goal is to identify gaps and weaknesses in the test validation process and to define the pivotal issues. Variables that influence a laboratory director's decision to develop a particular molecular genetic assay, including motivation, economics, intellectual property and the regulatory environment, are described. Issues of clinical and analytic validation are discussed, providing examples of tests with both good (cystic fibrosis carrier screening) and poor (apolipoprotein E genotyping for Alzheimer's disease) clinical utility. The decision-making process that occurs during the considered transition of a research-based molecular genetic assay into routine use in the clinical laboratory is summarized. Different factors will be weighted differently depending on the nature of the disease being tested, the complexity of its gene and mutations, the available technical platforms, potential regulatory and intellectual property restrictions, and whether the proposed test is to be offered by an academic or a commercial laboratory.

References

Mar 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·S G Fischer, L S Lerman
May 23, 1998·American Journal of Human Genetics·W W GrodyW W Noll
Oct 28, 1999·Archives of Pathology & Laboratory Medicine·W W Grody
Sep 26, 2000·Molecular Genetics and Metabolism·M Telatar, W W Grody
Apr 3, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·W W GrodyUNKNOWN ACMG Factor V. Leiden Working Group
Apr 3, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·W W GrodyUNKNOWN Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Ge
Nov 1, 2001·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·R D Press
Mar 1, 2002·American Journal of Human Genetics·Jon F MerzArthur L Caplan
Jan 2, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael S WatsonC Sue Richards
Jan 9, 2004·Expert Review of Molecular Diagnostics·Carolyn S Richards, Wayne W Grody

❮ Previous
Next ❯

Citations

Jun 27, 2009·Public Health Genomics·G JavittK Hudson
Jul 28, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·François RousseauUNKNOWN IFCC Scientific Division Committee on Molecular Diagnostics
Mar 25, 2008·Therapeutics and Clinical Risk Management·Pedro Viana Baptista
Mar 30, 2007·Pharmacogenomics·Jennifer A IslerMichael E Burczynski
Jul 3, 2010·Reproductive Biomedicine Online·I Tur-KaspaY Verlinsky
Jan 29, 2005·Pediatric Pulmonology·Chuanpit MoserRohan Thompson
Jan 4, 2013·Clinical Chemistry·Maria D PasicGeorge M Yousef
Mar 25, 2008·Therapeutics and Clinical Risk Management·Garry Walsh

❮ Previous
Next ❯

Related Concepts

Related Feeds

ApoE Phenotypes

Apolipoprotein E (APOE) is a protein involved in fat metabolism and associated with the pathogenesis of Alzheimer's disease and cardiovascular disease. Here is the latest research on APOE phenotypes.

Alzheimer's Disease: APOE

Apolipoprotein E (APOE) polymorphic alleles are major genetic risk factors for Alzheimer's disease. Discover the latest research on APOE and other genetic determinants of Alzheimer's disease here.