Colleen F. Stevens, Ph.D.

The field of genetic testing has exploded over the last decade. Clinical laboratories offer genetic tests ranging from single gene mutation analysis to genetic risk assessments for cancer, to non-invasive prenatal testing to whole genome sequencing. Dr. Stevens is interested in the appropriate validation of these assays to ensure that they provide accurate, reproducible, and clinically valid results. She provides guidance to clinical laboratories in the development of quality assurance procedures and validation plans which will ensure the clinical value of the genetic tests being offered.

In line with her regulatory responsibilities, Dr. Stevens’ research interests are in the development and validation of genetic tests, specifically for the NYS Newborn Screening program. In addition, she is interested in the association between the clinical presentation of single-gene disorders which have varying symptoms and degrees of severity and the specific mutations that are identified. The laboratory has recently added testing for Pompe disease to the newborn screening panel, a second tier test for sequence analysis of the GAA gene. This test is performed for those infants identified as having low enzyme activity. By studying the relationship between mutations identified and disease severity and symptoms, the hope is to eventually predict the likely clinical course for each patient based on the mutations that are identified.

Other projects include:

• Development and validation of a real-time PCR assay to detect Spinal Muscular Atrophy (SMA) in newborns. This assay will allow the initiation of therapy prior to the development of symptoms.
• Validation of a next generation sequencing assay for cystic fibrosis which will improve the laboratory’s ability to identify mutations in the CFTR gene and decrease the number of patients referred for further testing unnecessarily.