About Us | Age-Based Genomic Screening (ABGS)

Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in a healthy population.

The Age-Based Genomic Screening (ABGS) study is led by a team of researchers at UNC Chapel Hill investigating a novel alternative to genome-scale sequencing at birth. The research project aims to provide highly actionable genetic information to parents over the course of their child’s routine health care.

Project Goals & Objectives

Determine the optimal screening window for highly actionable conditions using criteria including age of onset and age of intervention
Evaluate strategies and empirical data to equitably implement this unique clinical application of genomic sequencing

Develop a validated and stakeholder-informed screening program for preventing or ameliorating conditions that are highly actionable
Partner with parents to co-design educational resources and strategies to facilitate diverse representation in research
Partner with health care providers to develop an optimal clinical implementation protocol for ABGS

Pilot the ABGS program in primary care clinics to assess patient and implementation outcomes, perspectives of partners, and overall
Set the stage for a longitudinal implementation that can assess clinical and health economic outcomes

The ABGS project is funded by the National Human Genome Research Institute (NHGRI grant #R01HG012271) and led by UNC faculty Jonathan S. Berg, MD, PhD (PI, Bryson Distinguished Professor of Genetics and Medicine) and Laura V. Milko, PhD (Co-PI, Assistant Professor of Genetics).

For inquiries and more information, contact us at ABGS@unc.edu