A Genetic Consultation is a process of communicating to a concerned individual or family about the occurrence or risk of occurrence of a genetic disease. Such process is driven by five objectives which should be attained by a geneticist, a genetic counselor or any person who received appropriate training, at the conclusion of the Genetic Consultation.
First, the genetic professional must be able to acquire and comprehend the medical facts involving the concerned individual-and at some point, his or her immediate and extended family-and including management.
Second, the professional must be able to acknowledge and appreciate the contribution of heredity to the disorder, as well as the risk of occurrence in specific family members whether immediate, extended or future.
Third, once the risk has been established the geneticist or genetic counselor should be able to understand and recognize the alternatives in deal with such risk.
Fourth, help the concerned individual in making them understand the impact of such risks and the availability of courses of action that are in harmony with the individual's unique beliefs, standards, and background in religion, race, ethnic and other concerns. If such independent decision has been made, the geneticist is expected to abide to it.
Fifth, provide the best possible adjustment to the illness in the affected individual or family member or to the risk of recurrence of such illness.
To get started, the geneticist or genetic counselor will obtain information on the detailed medical and family history, recommend a specialized physical exam that is initiated by a medical geneticist, and order appropriate laboratory tests. The physical examination shall include extensive physical measurements and photographs.
The medical records will be compiled dating back to the past when the individual and affected family member have had medical consultations, laboratory tests taken, diagnosis and treatments. Even when at the point of Genetic Consultation, a diagnosis has been made, the genetics professional may still conduct extensive family history and initiate physical examination, however limited.
The healthcare provider of the individual who sought the consultation may receive a written report from the genetics profession. The said report is prepared after the results of the laboratory tests are known, and often includes a literature search of similar cases. After the report is prepare, it is presented to the individual concerned and or family in a counseling meeting wherein all the questions that the individuals and family members would like to raise, shall be answered in details.
Among other things, the geneticist professional and or the healthcare provider will explain the etiology and nature of an illness, its history and prognosis, the manner of inheritance, the risks of recurrence, and possibilities for pre-natal diagnosis. Though it is non-directive, the consultation session is carried out to meet the educational level and background of the individual concerned.
Should the pre-natal diagnosis is decided by the concerning individual, the couple must also submit themselves to a family pedigree. If the couple desires to have other specialized diagnostic procedure such as amniocentesis, the genetics center may make the necessary arrangements.
The treatment for a genetic disease can be individualized and or specialized. The concerning individuals may also be informed of other specialized services like consulting a nutritionist for dietary therapy for a metabolic illness, for instance.
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