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ASHG News

Genomic Newborn Screening Identifies Actionable Heart Risk in Infants and Their Families

Genomic Newborn Screening Identifies Actionable Heart Risk in Infants and Their Families

For Immediate Release: Thursday, October 22, 2026, 4:15 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Wendy Chung, MD, PhD, Boston Children’s Hospital, Harvard Medical School Long QT syndrome is an inherited heart rhythm disorder that can cause life-threatening arrhythmias, but medications, cardiac monitoring, and avoidance of specific triggers can... Read More

Rapid Genome Sequencing Delivers Diagnoses, Guides Treatment for Infants with New-Onset Epilepsy

Rapid Genome Sequencing Delivers Diagnoses, Guides Treatment for Infants with New-Onset Epilepsy

For Immediate Release: Thursday, October 22, 2026, 1:30 p.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Gregory Costain, MD, PhD, on behalf of the Gene-STEPS study Rockville, Md. – Epilepsy beginning in infancy frequently has an underlying genetic cause, but conventional testing pathways can be slow and fragmented. In a... Read More

Noninvasive Fetal Exome Blood Test Detects 97% of Diagnoses Found by Invasive Sequencing

Noninvasive Fetal Exome Blood Test Detects 97% of Diagnoses Found by Invasive Sequencing

For Immediate Release: Thursday, October 22, 2026, 11:00 a.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Michael Duyzend, MD, PhD, Massachusetts General Hospital, Broad Institute, Boston Children’s Hospital, Harvard Medical School Current cell-free DNA screening in pregnancy primarily detects common chromosome abnormalities and selected genetic conditions. Identifying a broader range... Read More

Long-Read Genome Sequencing Could Streamline the Search for Rare Disease Diagnoses

Long-Read Genome Sequencing Could Streamline the Search for Rare Disease Diagnoses

For Immediate Release: Thursday, October 22, 2026, 8:15 a.m. U.S. Eastern Time Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected] Presented By: Lydia Sagath, PhD, Radboud University Medical Center Rockville, Md. – Diagnosing rare genetic diseases often requires more than 10 separate testing workflows, adding time and complexity to an already difficult diagnostic journey. A prospective... Read More