As a clinical geneticist, James McGrath, MD, PhD, evaluates children with chromosomal abnormalities and suspected genetic, single-gene, or metabolic disorders. He specializes in examining young children with developmental delays or signs of autism, but Dr. McGrath also sees patients with heart-related disorders.
Technology related to genetic testing is constantly improving, Dr. McGrath says. “This has allowed the field to put together information to improve testing techniques, to diagnose new disorders and to understand the function of genes we previously didn’t know.”
“Almost every day I have a challenge of incorporating new information and learning something new about some part of the body,” Dr. McGrath says. “Genetics is not limited to one organ. We are trying to understand the whole genome (all of a person’s genes).”
Dr. McGrath likes knowing that his work makes a difference in people’s lives. “Because genetics usually has predictable inheritance patterns, we can identify people at risk in a family who perhaps weren’t aware,” Dr. McGrath explains. He often offers guidance on how to share genetic information that may be relevant to other family members, sometimes helping them start a surveillance program to detect potential problems they may not have known about before.
Dr. McGrath is part of the Pediatric Genomics Discovery Program (PGDP) team and regularly consults on cases brought to that clinic. When speaking with patients and their families, Dr. McGrath says he carefully considers the overall situation. “We don’t want to make people anxious unnecessarily, but we also want to be realistic,” he says.