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What to Expect from a
Genetics Consultation
Genetic counseling is a communication process which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to
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comprehend the medical facts, including management;
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appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives;
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understand the alternatives for dealing with the risk of recurrence;
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choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision; and
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make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.
When referring a patient for diagnostic evaluation, a detailed medical and family history/pedigree will be taken, a specialized physical exam will be performed (by a MD Geneticist), and laboratory tests ordered. The physical examination may include extensive physical measurements and photographs.
Previous medical records will be reviewed and records of other affected family members requested. Even when the diagnosis is known, the geneticist will take an extensive family history and may perform a limited physical examination. The referring health care provider can expect to receive a written report and, when appropriate, interim reports by phone from the geneticist.
The preparation of a report often involves a literature search for similar cases. The report is prepared when the results of the laboratory tests are available. The results are usually presented to the family in a counseling session where their specific questions are answered as completely as possible.
The counselor also explains the nature and etiology of the disorder, its natural history and prognosis, the mode of inheritance, the recurrence risks, and the possibilities for prenatal diagnosis. Counseling is geared to the individual patient's educational level and background, and is non-directive.
A couple referred for prenatal diagnostic counseling should also be prepared to have a pedigree taken. Should the couple elect to have an amniocentesis or other specialized diagnostic procedure subsequent to their counseling session, the genetics center can make the necessary arrangements.
Although many disorders can be successfully treated, treatment is often extremely specialized. The geneticist will know what other specialized services are available, such as an expert nutritionist for dietary therapy for some metabolic disorders.
Medical geneticists do not provide primary care; they provide consultative services, with special expertise which should be helpful in the management of affected patients and their families.
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