Biochemical Genetics Frequently Asked Questions

What is biochemical genetics?

Biochemical genetics is a subspecialty of medical genetics. A biochemical geneticist is a physician with specialized training in biochemical genetics and genomics. They diagnose, treat, and manage care for people with inborn errors of metabolism (IEMs).

What are inborn errors of metabolism?

Inborn errors of metabolism are metabolic disorders that affect the way the body breaks down the nutrition you take in and how it produces energy from that nutrition to function.

What is a genetic counselor, and how will they support me?

Genetic counselors combine the science of medical genetics and genomics with the art of counseling. They provide a wide variety of services, including helping patients understand genetic test results, reviewing medical and family histories, and educating patients about genetic risks and options.

What if my child’s newborn screening indicates a metabolic disorder?

An abnormal screening doesn’t mean your baby has a confirmed metabolic disorder. Metabolic disorders are rare, and sometimes newborn screenings have false positives. We are a main referral center for babies with abnormal newborn screening results that indicate a possible metabolic disorder, and we will help you find answers.

What is the outlook for my child with a metabolic disorder?

When an IEM is identified and treated, you/your child’s outlook can be positive. Some disorders are highly manageable by a dietary change, medication, or a simple supplement. The earlier we diagnose an IEM, the quicker we can recommend treatment so that you/your child can have the best possible outcome. For example, with phenylketonuria (PKU), a person can’t break down an amino acid called phenylalanine, one of the building blocks of protein. Our dietitians create a personalized low-protein diet that helps to alleviate complications and enables patients to live full lives.