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About Newborn Screening Genetics and Family History

Although genetic disorders are often the result of inherited gene mutations, most affected babies identified through newborn screening are from families with no history of the disorder

Every baby is unique.  Part of what makes your baby unique are his or her genes.

Genes are the instructions inside each cell. They control how a baby will look and how his or her body works.  Cells are the building blocks of the body.  Every part of your baby’s body is made up of billions of cells working together. Since everyone has slightly different genes, everyone has a different set of instructions.

Children inherit pairs of genes from their parents.

A child gets one set of genes from the father and one set from the mother. These genes can match up in many ways to make different combinations. This is why some family members look a lot alike and others don’t look like each other at all. Genes can also increase the risk in a family for getting certain health conditions.

Many of the conditions found on state newborn screening panels are genetic disorders. 

A genetic disorder can be caused by a mutation, or a change in your DNA. These mutations can be either inherited,or in other words passed on from parents to their children, or they can be de novo, meaning they occur spontaneously during development. For more on genetics and inheritance patterns, visit

While many conditions on state newborn screening panels are caused by mutations that occur spontaneously during development, collecting a family health history is still helpful for expecting parents.

Family Health History

A family health history allows parents to know what conditions to look out for not only during newborn screening, but also later on as their children grow and develop. Knowing about family health history from the beginning can help you and your child make smart and healthy decisions from the start.

A family health history tells you more than just what diseases run in your family. It includes information about your family’s jobs, hobbies, habits and more. This information can help you identify patterns and make connections to determine where you or your family may face health risks. Your healthcare provider can help you understand these risks and suggest the steps to prevent or manage a health condition.

The best family health history will have information from several generations. Begin by recording information about yourself and your biological parents, siblings, and children. Then move on to aunts, uncles, cousins, and grandparents. Starting a conversation with your relatives is a great place to begin collecting information. Keep in mind that some people may be more willing to share information than others. In addition, some people may prefer to answer questions in person while others may be comfortable with answering your questions by phone or e-mail.

However you contact your family, it is important to explain to them why you are asking the questions. Let your family members know that you are creating a record to find out whether you and your relatives have a family history of certain disorders or health conditions.

For more information on collecting your family health history and sharing it with your healthcare provider, visit

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Last Reviewed - 10/12/2018

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