How a Biochemical Genetics Laboratory Confirmation Testing Interfaces with Positive Newborn Screening Tests-Presentation

Video Transcription

Video Summary

The ACMG educational webinar discussed the integration of biochemical genetics laboratory confirmation with positive newborn screening tests, focusing on homocystinuria and Duchenne muscular dystrophy (DMD). It highlighted the difficulties in using methionine as a primary marker for homocystinuria due to its poor specificity and the variability in total homocysteine reference ranges among labs. Current newborn screening in Washington has yet to identify actual cases of homocystinuria, indicating the limitations of methionine-based screening. The webinar suggested that genetic testing might improve detection rates. Regarding DMD, the presentation reviewed pilot screening programs using CK-MM immunoassays in Ohio, revealing an incidence possibly lower than traditionally estimated. The need for improved newborn screening cutoffs for low birth weight infants was emphasized, as current methods often recommend retesting, leading to confusion. New therapies for DMD, such as steroid trials and gene therapies, highlight the importance of early diagnosis. The session concluded with questions and answers on these screening practices, encouraging continued data collection and methodological improvements in newborn screening.

Keywords

biochemical genetics

newborn screening

homocystinuria

Duchenne muscular dystrophy

methionine marker

genetic testing

CK-MM immunoassays

low birth weight infants

gene therapies