Pediatric Genetics with Antonie Kline, MD
How quickly are genetic test results available?
Specializing in both pediatrics and genetics, pediatric geneticists are able to diagnose genetic conditions and recommend treatments. “We are focused on working with a child and his or her family,” says Antonie Kline, MD, Director of Pediatric Genetics at GBMC. “We work to develop a diagnosis and can also make recommendations to treat any underlying conditions.”
Pediatric geneticists are often involved in caring for patients with birth defects or a family history of a genetic condition. More specific conditions may include Down syndrome, connective tissue disorders, a cleft lip or palate, congenital heart disease, seizures or behavioral issues. “We make our recommendations to the primary care provider who then implements the appropriate treatment,” says Dr. Kline.
Before a consultation, a pediatric geneticist reviews the patient’s medical records. During the consultation, the pediatric geneticist will conduct a further review of the patient’s medical history and obtain a three-generation family history, which includes both sides of the family. The family tree provides answers and possibly reveals other genetic issues within the family.
A detailed physical examination is also conducted. “The exam is one of our greatest tools and if we recommend further testing, it is typically blood or urine testing, x-rays or an eye exam,” says Dr. Kline. At the end of the appointment, test recommendations and suggestions for further evaluation or treatment are shared with the patient’s family.
According to Dr. Kline, waiting for a child’s test results can be anxiety producing for parents. To help alleviate that stress, test results are usually turned around quickly. “The benefit is you can get the consultation results - and perhaps peace of mind - without a long wait,” she says.
Patients and their families benefit from the team approach of medical specialties offered at GBMC. Special teams, such as the Greater Baltimore Cleft Lip and Palate Team, which includes facial reconstructionists, speech pathologists, social workers, audiologists and newborn specialists, are available to offer advice and quality treatments for pediatric genetics patients. “Pediatric geneticists are able to make recommendations for other testing, but overall we work as part of a multidisciplinary team,” says Dr. Kline. “Pediatric genetics is a very broad field and we are constantly updating and looking up new information to put the pieces together.”
