Diagnosing, counseling and treating families with many different kinds of genetic conditionsSome children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. Pediatric geneticists are trained to identify the causes and natural history of these disorders. They may suggest tests and treatments that can help in understanding and caring for your child’s condition. Pediatric geneticists also help families understand whether some conditions are hereditary (coming from the genes) and offer testing to family members who may be at risk for having children with similar problems. Patients who seek genetic counseling & evaluation typically have:
- Birth defect(s)
- Family history of a genetic condition
- Known or suspected genetic syndrome or disorder
- Intellectual disability of unknown cause
Antonie D. Kline, MD
Director, Pediatric Genetics
Dr. Kline is the medical director of the Cornelia de Lange Syndrome Foundation and a member of the professional advisory board of the 5p- Society. Her areas of expertise include evaluation of multiple birth defects and/or developmental issues, as well as correlation and interpretation of cytogenetic changes in a clinical setting. She is board-certified in clinical genetics, clinical cytogenetics and clinical molecular genetics and a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics.
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Pediatric geneticists are physicians with special training in both pediatrics and genetics, who serve as consultants to a patient's primary care provider. Working with both out-patients and hospital in-patients, they diagnose genetic conditions and recommend follow-up care, which is implemented by the referring physician. At the Harvey Institute, the pediatric geneticist is Dr. Antonie (Tonie) Kline. As in most genetics centers, a genetic counselor is also an integral part of GBMC's pediatric genetics team.
What Happens During a Pediatric Genetics Consultation?
Whether the consultation occurs in the geneticist's office or at the bedside, all available medical records are reviewed before the patient is seen. From these, the geneticist and the genetic counselor construct a detailed family history. A three-generation family history, including both sides of the family, is the cornerstone of any genetic evaluation. Not only does it help provide answers to the referring physician's questions, but it may reveal other genetic issues in the family.
An initial outpatient visit usually lasts about 90 minutes. In-patient evaluations are variable in length. The patient is examined and, with permission, photographs may be taken. At the end of the visit, all findings are reviewed with the patient's family. For outpatient consultations, a written assessment is provided and recommendations are made. The referring physician is contacted immediately by telephone, if urgent, and subsequently receives a written clinical summary of the visit, a copy of which is also sent to the family. Inpatient cases are discussed with the family and with the hospital staff, who arranges for the pediatric geneticist's recommendations to be carried out. The inpatient's primary care physician receives a summary letter, a copy of which is sent to the family.
Most health insurances cover outpatient genetics consultations with referral and/or precertification. Co-payments are at the specialist rate. However, just as they have contracts with specific laboratories, many health insurers have contracts with genetics providers. You should contact your health insurance company to discuss their requirements for outpatient genetics consultations. In-patient genetics consults are covered under the terms of the patient's hospitalization insurance.
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