Top image: Taking a punch from a card containing dried blood spots. Middle image: Denise Kay, PhD, Director, Newborn Screening Program. Bottom image: Jing Xiao, PhD, FACMG, Associate and Clinical Director, Newborn Screening Program.
Staff from the Newborn Screening Program at the Wadsworth Center participated in the annual meeting of the American College of Medical Genetics and Genomics, held March 10–14 in Baltimore, Maryland, where they presented research highlighting New York State’s leadership in newborn screening. Dr. Denise Kay presented “Targeting CFTR Deletions and Duplications in Cystic Fibrosis Newborn Screening: Implications for Sensitivity and Equity,” addressing strategies to improve detection and ensure equitable screening outcomes. Dr. Jing Xiao presented “Newborn Screening for Metachromatic Leukodystrophy: A Combined Method of Analysis,” demonstrating advances in screening methodologies for rare genetic disorders.
In addition to their presentations, Drs. Kay and Xiao attended key sessions on emerging topics in newborn screening and genomics, including genomic sequencing implementation, ethical and societal considerations in newborn genomic screening, and the use of functional assays for clinical variant classification. Sessions also highlighted updated genetic analysis standards, translational genomics, and advances in pediatric therapies and clinical trials. Dr. Xiao further contributed to the field by participation in a Laboratory Quality Assurance Committee meeting.
The American College of Medical Genetics and Genomics is a leading national professional organization representing clinical geneticists, laboratory geneticists, and genetic counselors. Its annual meeting provides a premier forum for advancing knowledge on the role of genetics and genomics in disease prevention, diagnosis, and treatment. Participation in this meeting underscores the Wadsworth Center’s continued leadership in advancing newborn screening practices and translating genomic innovation into improved public health outcomes.