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Medical Geneticists Now Improving Neonatal Clinical Care

(Jan 27, 2009)

The last decade has seen an explosion in genetic information and advances in genetic technology. With several hundred genetic disorders now diagnosable through some form of genetic testing, the field of medical genetics brings immediate benefits to clinical care. "Genetics is a red thread through all of medicine," said Jessica G. Davis, MD, co-director of the medical genetics program at the Komansky Center for Children's Health at NewYork-Presbyterian Hospital/Weill Cornell.

The Komansky Center's expanded medical genetics program, established in the 1980s, serves individuals at risk for genetic disease. Many people seek consultation with a medical geneticist when planning to conceive a child because of a family history of disease or because of increased risk of fetal abnormalities due perhaps to a mother's age or known exposure to chemicals or radiation. Sometimes a genetic diagnosis is suspected or diagnosed prenatally.

Working closely with Weill Cornell's in-vitro fertilization center, the Komansky Center's medical genetics team also offers counseling about preimplantation genetic diagnosis for couples undergoing assisted reproduction. Prenatal counseling may also be referred by such diverse sources as the program on Maternal-Fetal Medicine, whose director is Frank A. Chervenak, MD, or the Center for Reproductive Medicine and Fertility, headed by Zev Rosenwaks, MD.

In some cases, said Dr. Davis, she and her colleagues step in postnatally. "Often I'm called straight to the nursery," Dr. Davis said. The center sees children born with a variety of problems, including metabolic diseases, congenital malformations (cleft lip/cleft palate, club foot), neurologic disorders, connective tissue conditions such as Marfan's syndrome, and skeletal dysplasias, to name a few. Older children as well as adults are also evaluated through this program.

The first goal of the medical geneticist is to arrive at a diagnosis and provide accurate information, including the natural history, prognosis, availability of genetic tests and recurrence risks. Equally important is providing access to the wide range of medical and social services each genetic condition requires. "Each disorder has its own set of issues," Dr. Davis said. "What's more, people have a lot of misconceptions about genetics, and they may not know anything about their condition."

Allaying fears and creating a pressure-free environment in which a family can accurately assess an affected member's needs is another key element of a genetic consultation. Individuals or their families are asked to provide as much information as possible, including any available medical records and photographs of family members with a suspected similar condition. The geneticist then constructs a family tree going back three or four generations and performs a physical exam. "Then I try to put it all together, like a detective, identifying any missing pieces that would help in a diagnosis, coordinating any testing needed, and updating the family's physician about what's been done." She then counsels about her impressions and conclusions. Laboratory and diagnostic testing are offered as needed. By the time she sees a family for their second appointment, she has done extensive research on the clues to the condition. One young boy, she recalled, presented with a strange symptom: a black substance accumulating on his teeth. By contacting experts in dentistry, she was able to identify this symptom as part of a specific disorder.

Being diagnosed with a genetic disorder has a major impact on patients and their families. One woman who wished to get pregnant sought consultation because of a family history of developmental delay. She arrived for her consultation with members of her extended family together with the obstetrician who had delivered her and her siblings 30 or more years ago. Dr. Davis eventually was able to identify the cause of the developmental delay within the family. "For the first time every one understood what the condition was, and everybody cried," she said. The woman and her siblings have subsequently gone on to have healthy children.

Jessica G. Davis, MD, is the Co-Director of the Medical Genetics Program at the Komansky Center for Children's Health, Weill Cornell Medical Center; and Associate Professor of Clinical Pediatrics, Division of Genetics, Weill Medical College of Cornell University.

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