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Test Your Knowledge of Genetic, Metabolic Disorders :

September 15, 2017

Editor's note: The 2017 AAP National Conference & Exhibition will take place from Sept. 16-19 in Chicago.

You’ve got a patient with a nonspecific developmental delay. Should you send her for genetic testing? Should you order a chromosomal microarray first? How should you counsel the family?

Medical geneticists Laurie Seaver, MD, FACMG, FAAP, and Darrel Waggoner, MD, will help primary care and specialty pediatricians answer such questions during a session titled “Genetic and Metabolic Disorders Every Pediatrician Should Know (A2049)” from 8:30-10:00 am Sunday in McCormick Place West, W196 C.

Dr. Seaver is a medical geneticist at Spectrum Health Medical Group in Grand Rapids, Mich., and Dr. Waggoner is professor of human genetics and pediatrics and medical director of human genetics at University of Chicago Medicine.

During the session, the pair will present case scenarios and show photographs or radiographs. Then they will pose questions regarding diagnosis, testing and management, and attendees will weigh in using an audience response system.

The goal, Dr. Seaver said, is to help primary care and specialty pediatricians feel more confident in identifying important features of the history and physical examination that should prompt genetic referral and enable them to articulate for the family and the consultant their concerns.

Among the metabolic and genetic disorders that may be covered are galactosemia, phenylketonuria, mitochondrial disorders, Tay-Sachs disease, fragile X syndrome, Noonan syndrome, neurofibromatosis, tuberous sclerosis, Marfan syndrome and osteogenesis imperfecta.

“Some will present with obvious symptoms at birth or infancy,” Dr. Seaver said. “There are milder forms of many metabolic conditions that might present later in childhood/adolescence or even in adults.”

The Human Genome Project, completed in 2003, has opened many doors in the field of genetics.

“Now, we can help in the diagnosis of nearly all genetic conditions,” Dr. Seaver said. “Before, the genetic basis of a condition may have been known, but nobody really offered the test.… With exome sequencing and genome sequencing, and having panels available for more nonspecific symptoms, we can make a specific molecular diagnosis most of the time now if the condition truly is genetic.”

Specialists, including neurologists, cardiologists and nephrologists, also are using genetic testing.

“Every specialty has its own little group of genetic conditions,” Dr. Seaver said.

And parents are hungry for answers.

“Most families are just desperate for a diagnosis and want to know what this is,” she said.

However, not everyone has ready access to a geneticist or genetic testing. Therefore, it’s important for pediatricians to have a good relationship with geneticists so they can consult with them if they have a patient whom they feel needs genetic testing.

“I came from Hawaii. I had all these islands,” Dr. Seaver said. “So there were lots of times when the pediatricians would call me and we would talk over a patient to help them know what to do in the meantime before they could get their patient over to the tertiary care center when it wasn’t just a drive down the street or down the freeway.”

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