Genomic medicine at Children’s Minnesota

We are the only genomic medicine program in Minnesota that focuses exclusively on caring for kids and uses the latest clinical advances in genomics to deliver the best care. We specialize in diagnosis, evaluation and treatment of genetic conditions — from the common to the most complex and rare.

Our Metabolic and Newborn Screening Clinic at Children’s Minnesota sees the majority of babies in Minnesota who have an abnormal newborn screen. They are referred to the clinic by their primary care provider.  Our team does the initial confirmatory evaluations and provides follow-up care for children whose screens are abnormal or have a presumed or confirmed inborn error of metabolism.

Genetic conditions are caused by changes in the body’s instructions, or genes. While genes are passed from parent to child, genetic conditions are not always inherited. Children’s Minnesota helps families understand genetic conditions, like those caused by a chromosomal or single-gene change.. With one of the largest genomic medicine programs in the region, we see more than 2,500 children and teens every year.

Many conditions can have a genetic cause, so our team is involved with different departments throughout Children’s Minnesota. Pediatric cancers, congenital heart defects, cleft palate, hearing loss, seizures and other problems can have genetic components. We help identify the genetic diagnosis in order to aid medical treatment.

A pharmacogenetics pharmacist may help to identify the right medication and right dose for patients with specific diseases based on their genetic make-up. As our pharmacogenetics program evolves, it will help improve medication safety and outcomes for our patients.

Benefits of a genetics evaluation include:

• Finding an answer that explains a child’s differences. Genetic conditions can cause many different symptoms that at first seem unrelated, but a “unifying diagnosis” explains them all.
• If a genetic condition is found, we can use that information to take better care of a child because we know what else to look for.
• If a genetic condition is found, we can give families an idea of what to expect for their child’s health and development now and in the future.
• If a genetic condition is found, we can talk about the risks to other family members, including parents and siblings, and help families decide if testing is appropriate for them. We also discuss whether the condition is one that runs in families and the chance it could happen again in the future.

We work with patients and families every step of the way.