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.
Pediatric genetics consultations are usually recommended for:
- Birth defect(s)
- Known or suspected genetic syndrome or disorder
- Mental retardation of unknown cause
- Family history of genetic condition
- Medical Records: 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.
- The Visit: 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 consults, 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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