Three senior pathology residents from Albany Medical Center participated in a two-day rotation in the Wadsworth Center’s Newborn Screening Program DNA Laboratory, where they observed workflows, gained hands-on experience, and learned about the genetic testing that supports New York State’s comprehensive newborn screening program.
The rotation began with an overview of newborn screening accessioning, in which approximately 1,000 infant specimens are received, accessioned, and distributed daily for testing across more than 50 disorders. Residents observed high-throughput, automated DNA extraction from dried blood spots and testing for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) using a combined multiplex quantitative PCR (qPCR) assay. They also reviewed survival of motor neuron 2 (SMN2) gene copy number testing, performed as reflex testing for all SMA screen-positives using qPCR and droplet digital PCR (ddPCR).
As part of the rotation, residents were introduced to second-tier gene sequencing, which is performed for nine conditions on the New York State panel following a positive first-tier biochemical screen. These sequencing results provide healthcare providers with critical variant information at the infant’s first clinical visit, helping to predict disease severity and facilitating early genetic counseling.
Residents participated in the full workflow by extracting DNA from de-identified blood spots and conducting PCR, gel electrophoresis, Sanger sequencing, and sequence analysis. Each resident analyzed a specific gene region, identified sequence variants, and interpreted the results in the context of abnormal newborn screening findings. The rotation also included discussions on sequencing assay design, variant interpretation frameworks, the benefits and risks of gene sequencing in the newborn screening setting, and procedures for reporting and follow-up. The residents shared highly positive feedback, noting the rotation’s strong educational value and relevance to their training.
This experience was coordinated by Carlos Saavedra-Matiz, MD, and Erin Hughes, MS.