General Condition List
Frequently Asked Questions
Leadership
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A group of experts called the BRIDGES-NBS Genetic Condition Working Group decides which genetic conditions are included and regularly reviews the list. This group includes doctors, genetic counselors, researchers, and public health professionals with experience caring for children and families with genetic conditions.
The group seeks the opinions of many other groups, including leaders at the National Institutes of Health (NIH), the BRIDGES-NBS Steering Committee, the BRIDGES-NBS Community Advisory Board, rare disease advocacy organizations, medical specialists from many fields, and people living with genetic conditions and their family members. This helps ensure that decisions are thoughtful, balanced, and informed by both medical expertise and lived experience.
How conditions are chosen
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The list was built in stages and updated over time, based on published research, input from dozens of medical experts, advocacy groups, and international screening programs.
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The goal of BRIDGES-NBS is to find genetic conditions early, so that care can begin in the first year of life, when it can make the biggest difference for a child’s health.
A genetic condition is included if it meets all of the following criteria:
The condition affects a child’s health or development.
There is a treatment or medical monitoring plan that can start before age 1 and is expected to meaningfully improve health or prevent serious complications.
There are other ways, beyond the genetic test itself, to help confirm the diagnosis or guide care, such as blood tests, imaging, physical findings, or safe monitoring strategies.
The condition can be reliably detected using the type of genome sequencing used in BRIDGES-NBS.
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BRIDGES-NBS focuses on conditions where early detection can meaningfully improve health outcomes for young children. We do not screen for:
Adult-onset conditions
Carrier status
Pharmacogenomic traits
Conditions that lack an approved treatment or established early-life surveillance strategy expected to improve outcomes in infants or young children
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In BRIDGES-NBS, a condition is considered actionable if finding it early allows doctors to:
Start a treatment that changes care in an important way
Avoid treatments that could be harmful (such as certain vaccines or x-ray radiation)
Closely monitor for specific health problems in the first year of life, when early care can help
Some things by themselves are not currently considered enough to include a condition, such as:
Avoiding a long diagnostic journey
Access to research studies or experimental treatments
Starting supportive therapies alone (like physical or speech therapy)
Personal, emotional, or financial benefits
Information mainly used for future family planning
Information relevant only to a parent’s own medical care
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The list includes both relatively common conditions, which may be found in up to 1 in 20 people, and very rare ones, that are found in nearly 1 in a million people. How common a condition is was not the main deciding factor of whether or not a condition would be included. Instead, the focus was on whether early detection could meaningfully help a child.
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Some conditions that meet our inclusion criteria may have been missed. BRIDGES-NBS welcomes feedback and will continue to review and update the list as the study progresses.
Understanding the results
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No.
All enrolled babies are screened using the same list. Allowing families to choose different conditions would make testing and counseling much more complicated and difficult to carry out fairly.
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Many, but not all children who have a genetic change, will develop symptoms. Sometimes the symptoms of a condition may be mild. For nearly every condition on this list, another test can be used to better understand if a child has the condition.
In the rare cases in which no such test is available, many families may still choose careful follow-up or low-risk monitoring.
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Yes.
Some conditions can appear at different ages. BRIDGES-NBS includes conditions where a serious form can begin in infancy, but sometimes symptoms might appear later in childhood.
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BRIDGES-NBS reports genetic changes that are very likely to cause disease.
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Yes.
Genetic data may be reviewed again if a baby has an abnormal result on traditional newborn screening, or a child develops signs or symptoms that suggest a genetic condition in the future.
Organization of the List
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Conditions are grouped into several categories based on the symptoms that they cause.
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For each condition, the list includes:
The gene involved
The condition name
How it is inherited
Description of the condition
Why early detection matters
Signs or tests that may help confirm the diagnosis
Available treatments or monitoring
Scientific references
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Yes.
The list will be reviewed and updated about once a year as new information becomes available. Families, researchers, and advocacy groups are encouraged to share feedback through the BRIDGES-NBS website.