2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Perspectives of Rare Disease Experts on Sequencing Newborns for Treatable Genetic Conditions

Perspectives of Rare Disease Experts on Sequencing Newborns for Treatable Genetic Conditions

Pdf Summary

A study conducted by the Genomes2People research team sought expert perspectives on screening newborns for additional treatable genetic conditions. The study involved an online survey distributed to rare disease experts, which included 649 genes associated with treatable conditions in various clinical areas. Out of the 386 participants invited, 238 responded and provided their assessments of the proposed genes. The study found that there was a concordance of over 85% for 25 genes associated with disorders not currently included in universal newborn screening programs. The clinical areas with the highest priority genes included Metabolism, Endocrinology, Hematology, Oncology, Neurology, and Gastroenterology. The study also collected demographic data from participants, revealing that 87.9% agreed that expanded newborn screening should be used to include more conditions. Participants under 50 years old were found to be 5 times more likely to recommend sequencing for treatable conditions. Overall, the study suggests that there is support among experts for expanding newborn screening to include additional treatable genetic conditions, allowing for early diagnosis and intervention.

Asset Subtitle

Presenting Author - Nidhi D. Shah, MD, FACMG; Co-Author - Nina B. Gold, MD; Co-Author - Sophia Adelson, BA; Co-Author - Shardae Williams, MEd; Co-Author - Sarah L. Bick, MD; Co-Author - Jessica I. Gold, MD, Phd; Co-Author - Alanna Strong, MD; Co-Author - Rebecca Ganetsky, MD; Co-Author - Amy E. Roberts; Co-Author - Melissa Walker, MD PhD; Co-Author - Alexander Holtz; Co-Author - Vijay G. Sankaran, MD, PhD; Co-Author - Ottavia Delmonte, MD, PhD; Co-Author - Weizhen Tan, MD; Co-Author - Ingrid A. Holm, MD, MPH; Co-Author - Jay R. Thiagarajah, MD, PhD; Co-Author - Junne Kamihara, MD, PhD; Co-Author - Jason Comander, MD, PhD; Co-Author - Emily Place, MS; Co-Author - Janey Wiggs, MD; Co-Author - Robert C. Green, MD, MPH;

Meta Tag

Biochemical genetics

Brain/Nervous System

Cancer Syndromes

Cardiac/circulatory disorders

Cardiovascular System

Databases

Exome sequencing

Genetic Testing

Genome sequencing

Genomic Methodologies

Metabolic Disorder

Mitochondria

NextGen Sequencing

Policy Issues

Population Genetics

Respiratory System

Risk Assessment

Therapy

Co-Author Nina B. Gold, MD

Co-Author Sophia Adelson, BA

Co-Author Shardae Williams, MEd

Co-Author Sarah L. Bick, MD

Co-Author Jessica I. Gold, MD, Phd

Co-Author Alanna Strong, MD

Co-Author Rebecca Ganetsky, MD

Co-Author Amy E. Roberts

Co-Author Melissa Walker, MD PhD

Co-Author Alexander Holtz

Co-Author Vijay G. Sankaran, MD, PhD

Co-Author Ottavia Delmonte, MD, PhD

Co-Author Weizhen Tan, MD

Co-Author Ingrid A. Holm, MD, MPH

Co-Author Jay R. Thiagarajah, MD, PhD

Co-Author Junne Kamihara, MD, PhD

Co-Author Jason Comander, MD, PhD

Co-Author Emily Place, MS

Co-Author Janey Wiggs, MD

Co-Author Robert C. Green, MD, MPH

Presenting Author Nidhi D. Shah, MD, FACMG

Keywords

Genomes2People research team

newborn screening

treatable genetic conditions

online survey

rare disease experts

concordance

Metabolism

Endocrinology

Hematology

expanded newborn screening