Age-Based Genomic Screening

Drs. Jonathan Berg and Laura Milko Awarded New R01 from NHGRI!

Jonathan Berg, MD, PhD (Distinguished Professor) and Laura Milko, PhD (Assistant Professor) received a new R01 grant from the National Human Genome Research Institute (NHGRI) for their proposal titled “Age-based genomic screening in newborns, infants and children: a novel paradigm in public health genomics”.

RECENTLY PUBLISHED! Authors from the ABGS Community Research Board (CRB) and the PPMH research team collectively co-authored a paper, “Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population” that was recently accepted for publication in a special issue of Frontiers in Genetics:DNA-Based Population Screening for Precision Public Health.

What is Age-Based Genomic Screening (ABGS)?

• ABGS is a new approach to introducing genomic screening into routine healthcare for young healthy children.
• ABGS would target specific genes that are known to cause a specific disease rather than sequencing more than 20,000 genes in the human genome.
• The types of genetic diseases selected for screening are referred to as “actionable” because they have proven medical treatments.
• ABGS only screens for actionable conditions that are appropriate for the age of the child.

Why not sequence the entire human genome?

• Most of the 20,000+ human genes are not fully understood, and their role in a disease has not been clearly defined.
• Sequencing all genes creates the potential to learn of devastating conditions that are not actionable. This type of information could negatively impact the parents and the child.
• Sequencing all genes creates the potential to learn of conditions that occur in adulthood.  This type of information could negatively impact the child’s right to make their own medical decisions when they become an adult.
• The ABGS approach reduces these concerns by focusing sequencing to a predefined set of genes that are known to cause actionable diseases in childhood.

How do we know what parents want for their children?

• We want to learn what parents think of genomic screening for healthy children and, specifically, what they think about the ABGS approach.
• We are striving for diversity and inclusion in all areas of research and want to make sure that genomic medicine research benefits all people.
• We have engaged a Community Research Board (CRB) that is comprised of parents from diverse communities in North Carolina.
• The CRB members are part of the research team and provide insight and guidance on many aspects of this approach from a parental perspective.

Get to know our Community Research Board (CRB)!

Our CRB is an active collaboration between our research team and community members. The CRB involves community stakeholders in the development of research objectives and allows them to offer guidance as the research advances. The CRB meets once monthly by Zoom.