Pediatrics & Genetics

Pediatrics & Genetics

As a parent, watching your child grow and develop is one of the biggest joys of parenting. But there are a lot of factors that can influence a child’s development and health. These factors often create a delicate balance between nature and nurture and can include genetics, family, relationships, experiences, culture, education, nutrition, and much more.

Genetics & Your Child

Any expecting parents can tell you they have given quite a bit of thought to who their baby might look like. Will the baby have dad’s chin? Or mom’s eyes? We know traits like these are inherited within families — we look for them and we talk about them.

The individual instructions, or genes, that determine our traits and tell our bodies how to grow and function, are located on our chromosomes. We are not all the same and not all children will follow the same path developmentally or medically, due in part to the complex interactions between our genes and between our genes and environment.

Some individuals may have differences that impact their development that cause difficulties in how they function day-to-day. These are called developmental disorders and may include mental and/or physical difficulties. Examples include developmental delays, intellectual disability, autism spectrum disorder, hearing loss, vision impairment, and many others. According to the Centers for Disease Control (CDC), about 1 in 6 (~17%) children in the United States have a developmental disorder.

Have questions?

Do you have questions about your pediatric health and the role that genetics can play? Talk with one of our genetic counselors.

Child Development & Genetic Evaluation

If you have concerns about your child’s development, their primary care provider and your school district are often the first place to start asking questions. Many families of young children (under age 3) are surprised to learn their school district offers evaluation and early intervention services at no charge.

When a baby or child begins showing signs of differences from their family background or their peers, their primary care provider may refer them for a developmental assessment. These assessments typically include physical development (fine motor skills and gross motor skills) cognitive development (intellectual abilities), communication development (speech and language), social or emotional development (social skills and emotional control), and adaptive development (self-care skills). If there are developmental concerns noted, a child’s primary care provider may also refer them to see a specialist, such as a genetics professional.

Below is a list of common reasons why a child may be referred for genetics evaluation:

A genetics evaluation involves a review of the child’s medical history, family history, and detailed physical examination. Based on this evaluation, genetic testing may be recommended. The results that come from genetic testing may provide your family with helpful information. An informative or “positive” test result may help explain why a child has developmental differences, provide insight into additional or future medical needs, provide your family with the likelihood for future children to have similar symptoms, and provide access to a community of families/children with the same diagnosis. An uninformative or negative test result may rule out certain genetic conditions and may mean additional testing is recommended.

Learn more about different types of genetic testing that are available:

Have questions?

Do you have questions about your child’s health and development and the role that genetics can play? Talk with one of our genetic counselors.

Genetics & Newborn Screening

Newborn screening (NBS) is a group of tests that check all babies for certain rare conditions where there may not be immediate symptoms, but if the condition goes untreated it canuntreated can lead to serious health and developmental issues. Some of the medical conditions on NBS panels can be life-limiting if not treated. Most of the conditions covered by NBS are genetic, and the majority have treatment options that are available. With early diagnosis and treatment, most babies with these conditions can lead healthy lives.

While the field of genetics has rapidly expanded in recent years, NBS has been done since the 1960s. At this time, it became possible to screen newborns for a genetic condition called PKU (or phenylketonuria). PKU prevents that body from breaking down a substance called phenylalanine, which can lead to it building up in various parts of the body. If untreated, individuals with PKU can develop intellectual disability, seizures, behavioral issues, and mental health disorders. If identified and treated shortly after birth, most children with PKU will experience no health issues or developmental concerns.

As our understanding of various genetic disorders and their treatments has expanded, NBS has gone from just testing for PKU to being able to test for over 30 different medical and genetic conditions.

Have questions?

Do you have questions about your newborn’s health and screening results? Talk with one of our genetic counselors.

As the nation's health protection agency, CDC saves lives and protects people from health, safety, and security threats.

Early Intervention (CDC) offers services and support for parents of babies and young children with developmental delays.

The #1 most-trusted source for physician-reviewed info and advice on children's health and parenting issues.

The American Academy of Pediatrics is guided by its mission to ensure the health and well-being of all children.

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