Abstract
PurposeTesting for inborn errors of metabolism is performed by clinical laboratories worldwide, each utilizing laboratory-developed procedures. We sought to summarize performance in the College of American Pathologists’ (CAP) proficiency testing (PT) program and identify opportunities for improving laboratory quality. When evaluating PT data, we focused on a subset of laboratories that have participated in at least one survey since 2010.MethodsAn analysis of laboratory performance (2004 to 2014) on the Biochemical Genetics PT Surveys, a program administered by CAP and the American College of Medical Genetics and Genomics. Analytical and interpretive performance was evaluated for four tests: amino acids, organic acids, acylcarnitines, and mucopolysaccharides.ResultsSince 2010, 150 laboratories have participated in at least one of four PT surveys. Analytic sensitivities ranged from 88.2 to 93.4%, while clinical sensitivities ranged from 82.4 to 91.0%. Performance was higher for US participants and for more recent challenges. Performance was lower for challenges with subtle findings or complex analytical patterns.ConclusionUS clinical biochemical genetics laboratory proficiency is satisfactory, with a minority of laboratories accounting for the majority of errors. Our findings underscore the complex nature of clinical biochemical genetics testing and highlight the necessity of continuous quality management.
Highlights
Clinical biochemical genetics is a medical specialty devoted to diagnosing and treating inborn errors of metabolism (IEMs)
An analysis of laboratory performance (2004 to 2014) on the Biochemical Genetics proficiency testing (PT) Surveys, a program administered by College of American Pathologists’ (CAP) and the American College of Medical Genetics and Genomics
US clinical biochemical genetics laboratory proficiency is satisfactory, with a minority of laboratories accounting for the majority of errors
Summary
Clinical biochemical genetics is a medical specialty devoted to diagnosing and treating inborn errors of metabolism (IEMs). IEMs encompass a heterogeneous group of genetic conditions including disorders of amino acid (AA; e.g., phenylketonuria), organic acid (OA; e.g., methylmalonic aciduria, MMA), mucopolysaccharide (MPS; e.g., Hurler syndrome), and fatty acid metabolism (e.g., medium-chain acyl-CoA dehydrogenase, MCAD, deficiency). Individually rare, their estimated combined incidence is as high as 1:800–1:2,500 births.[1,2] Symptoms often appear early in life, but clinical outcomes are optimized by an early diagnosis and therapy instigation before irreversible damage has occurred.[3]. It is vital that laboratories perform extensive validation and ongoing test monitoring to ensure the highest quality for patient care
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