黑料网

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 黑料网 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鈥檚 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 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 enrollment and recruitment听
• 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 黑料网 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

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