Article

New quality assurance standards for rare disease testing.

Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 6.44). 06/2008; 10(5):320-4. DOI: 10.1097/GIM.0b013e31817283ba
Source: PubMed

ABSTRACT one or a few researchers, and they are the only ones with the reagents, knowledge, and experience to perform the tests. This state of affairs is not surprising when one considers the typical evolution of genetic disease discovery. This typical chronology beginswiththeencounterbyaninterestedclinicalinvestigator of one or more patients with a particular genetic disease. Spec- imens (usually blood) are collected from these patients for di- agnostic (e.g., biochemical) testing and disease characteriza- tion. At the same time, genomic DNA is isolated, and if sufficiently large families or numbers of families can be ac- crued, gene mapping studies by linkage analysis are com- menced. With luck, the causative gene will be discovered and published.Oftentheverynextpublicationfromthelaboratory describes a mutation survey of the sequence changes in all the patientswhoseDNAhasbeencollectedandstored.Butinmost casesthesestudiesarenotespeciallyexcitingorrevealing,com- prised predominantly of routine missense and nonsense vari- antsthatdonotshedmuchlightonthemolecularmechanisms of the disease or the gene product. Naturally, the research lab-

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