Genetics, Disease Counseling

4765 Words Apr 18th, 2012 20 Pages
Genetic Disease Diagnosis, Screening and Treatment
Advocacy and Decision Making in Genetics

Competencies for Contemporary Nursing Issues (GNT1)
Juanita Allen

Janette Barney
Western Governor 's University

Task 3
724.2.5-03-08
724.2.6-02-09

Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks ' initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric nurses, a geneticist, a social worker, and or genetic counselor who specializes in such genetic diseases, and it would be
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In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

The genetic counselor should have a great deal of experience in dealing with specific genetic diseases, including Tay Sachs disease. They would be able to provide a list of support groups and or families they could refer the Trosack 's to in order for them to relate to others who have been through the process before. This type of assistance is chosen as part of the interdisciplinary team to assist this couple, especially Rita in understanding what they will be going through and what emotions to expect in the process. It will

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