Roy Peake, PhD, trained as a clinical biochemist in the UK National Health Service and completed a 2-year post-doc in clinical chemistry at Boston Children’s Hospital. He also completed fellowship training in clinical biochemical genetics at Harvard Medical School. Dr. Peake is a Fellow of the Royal College of Pathologists and board certified in clinical chemistry by the American Board of Clinical Chemistry, as well as in clinical biochemical genetics by the American College of Medical Genetics and Genomics. He is Associate Director of clinical chemistry and director of the metabolic testing laboratory in the Department of Laboratory Medicine at Boston Children’s Hospital. Dr. Peake also directs the fellowship program in clinical biochemical genetics at Harvard Medical School. His research focuses on applying metabolomics to study inborn errors of metabolism and rare disease, particularly using high resolution mass spectrometry as a functional genomics tool.

• Discuss the current performance of biochemical testing