What is Age-Based Genomic Screening (ABGS)?
- ABGS is a new approach to introducing genetic sequencing 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.
What are the goals of the ABGS project?
- Combining evidence and expert opinion to determine what genetic conditions to add for screening through childhood
- Understanding what parents, health care providers, and communities consider barriers to participating in ABGS and removing those roadblocks
- Piloting a research study in diverse clinics in NC to learn about the effectiveness and health equity of ABGS
What makes ABGS different from current Newborn Screening (NBS)?
Current public health screening in children is centered around Newborn Screening (NBS) of babies right after they are born. Health screening in general looks for people with a disease, or an increased chance of developing a disease, who have not developed symptoms yet.
All babies in the US are screened at birth for rare but serious genetic conditions that can cause major health problems and/or death if not detected and treated early. Each state decides which genetic conditions to screen for, with most states screening for 50-60 conditions. The state laboratory receives a blood sample from the baby, typically from a heel stick,f to run tests on the blood to determine if a condition is present.
Screening has been very successful in the United States because it identifies babies who need early treatment in time to receive an intervention. Without this timely action, these babies would eventually experience major health issues and possibly a limited lifespan.
The goal of ABGS is to provide screening for dozens of additional genetic conditions that are not currently included in NBS. ABGS is unique because instead of screening for every condition in newborn babies, it would screen at different ages when treatment options would be most effective to help treat or even prevent these genetic conditions from developing symptoms.
How does ABGS know what parents want for their children?
- The ABGS project is striving for diversity, equity, and inclusion in all areas of research and want to make sure that genomic medicine research benefits all people. Community engagement is crucial to ABGS since we want to learn what parents think of genomic screening for healthy children and, specifically, what they think about the ABGS approach.
- The Community Research Board (CRB) members are part of the research team and provide insight and guidance on many aspects of this project from a parental and community perspective.
Meet the Community Research Board (CRB)!
Group Resume
Who we are
Parents and Caregivers representing diverse communities and perspectives
Our Professions
Academic Advisor, School Bus Driver, School Counselor, Animal Behavior Consultant, Engineer, Web Developer, Video Editor, and Full Time Parent
How we spend our evenings
Family game night, working with clients, roasting coffee, prepping kids for bath/bed, having dinner with family, watching TV
What makes us feel genomics research is so important
- Personal experience with genetics and early screening.
- Increases better understanding of healthcare choices.
- Contribute to something that helps society as a whole.
- To have an impact in a field that affects so many people.
- To help further research and to educate others.