What We Screen For

BRIDGES-NBS uses genome sequencing to look for genetic risks for about 800 health conditions that begin in infancy or early childhood. These are conditions where early treatment or medical care can make a meaningful difference.

Genes are pieces of DNA that act like instructions for the body. Most genes work exactly as they should. Sometimes, changes in certain genes can increase the chance of a condition developing early in life. Genome sequencing reads these genes to identify changes that may benefit from prompt care.

BRIDGES-NBS screens only for childhood-onset, medically actionable conditions — meaning conditions for which:

  • Treatment or monitoring will begin in the first year of life

  • Early detection helps healthcare providers tailor care, improve health outcomes, or prevent harmful complication

Examples include:

Metabolic conditions

Impact how your body breaks down or processes food and makes energy.

Babies with these conditions can sometimes benefit from medicines or special diets to prevent or reduce serious illness.

Immunologic conditions

Make it harder for the body to fight infections.

Babies with these conditions can sometimes benefit from early monitoring or treatment to prevent or reduce illness.

Cardiac conditions

Impact how the heart develops or beats.

Babies with these conditions can sometimes benefit from early monitoring and treatments to prevent or reduce symptoms.

Hereditary cancer syndromes

May increase the risk for certain types of cancer.

A child may not develop cancer in infancy, but early screening starting in the first year of life allows healthcare providers to identify issues sooner and improve outcomes.

You can view a list of all conditions screened here, and read more about the types of conditions BRIDGES-NBS screens for here.

We do not screen for:

  • Conditions that do not start until adulthood

  • Carrier status (genetic changes that usually do not affect a person’s health, but could be passed on to future children)

  • Conditions that do not have known treatments for infants or young children

  • Conditions with treatments that are in clinical trials, but not yet approved for use.

Why this focus matters

By keeping results focused on conditions where early care or screening matters, BRIDGES-NBS ensures that any findings returned are directly relevant to your baby’s health in the early years and beyond.