DNA: The genetic material in your body that carries instructions for how your body grows, develops, and works. Each person has a unique set of DNA, inherited from their parents.

Gene: Genes are made of DNA. Your genes give instructions for how your body functions. They impact basic things like eye color, as well as health and disease risk.

Genome: All of a person’s DNA. It includes all the instructions that tell your body how to grow and work.

Genetic Change (Variant): A difference in your DNA, also called a variant. Everyone has genetic changes. Most do not affect health, but some can increase the chance of certain conditions.

Genetic Condition: When changes in genes (called variants) occur, they can sometimes lead to health conditions also known as genetic conditions.

Genome Sequencing: A laboratory test that looks for genetic changes in an individual's DNA that could cause health problems

Screening: A test that checks for a health condition or a risk for a health condition, often before symptoms appear. A screening test does not provide a final diagnosis.

Newborn Screening: A test done shortly after birth to identify babies at risk for treatable health conditions. Most of the testing is done using a small blood sample from the baby’s foot (also called “dried blood spot”).

Abnormal or Positive Result: A result showing a genetic change that increases a person's risk to develop a health condition. It does not always mean the person will develop the condition.

Normal or Negative Result: A result showing no genetic changes were found for the conditions screened for by the study. It does not rule out all possible health conditions.

Risk: An increased chance that a person will develop a certain health problem.

Monitoring: Regular medical care to check for early signs of a condition, such as exams, lab tests, imaging, or other evaluations.

Treatment: Medical care used to help prevent, manage, or reduce the symptoms of a health condition. This may include things like medications, special diets, procedures, or other medical care.

Research Study: A project that you and your family can choose to be part of, or not. BRIDGES-NBS is a research study focused on understanding how we could make newborn screening better.

De-identified Data: Information that has had personal details (like name or date of birth) removed so it cannot easily be linked back to an individual.