Genetics, Disease Counseling

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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 especially helpful if they had a family who previously had a child born with Tay Sach's disease to relate to and for on going support. All members of the team should be able to work together to help this couple find answers, support and information they need to prepare them for what to expect during the pregnancy, after the child is born, and the development process as the child ages.

The high risk obstetrician or perinatologist is chosen to assist in Rita's prenatal care, as well as providing individualized care to optimize her health discuss and fetal well being. The OB is who referred her to a geneticist for testing. Chorionic Villus Testing or CVS is usually performed between 10 and 12 weeks, this is where a sample is received from the developing placenta either through a thin tube inserted through the vagina or by inserting a needle through the abdomen. the placenta contains cells that are genetically identical to those of the fetus and the cells are examined for the presence of genetic diseases. Since Mr. and Mrs. Trosack are remarkably healthy, when receiving the news of their unborn child having Tay Sach's they became very distraught. They do not understand how this could have happened and vacillate between denial and acceptance of the situation. It is important for the obstetrician to be able to give the Trosack's all the information needed to help them understand this devastating news. Rita will be seeing Dr. Zimmerly often and will need to rely on his knowledge and understanding to get through her pregnancy without further complications as well as the geneticist to counsel her with what to expect during her pregnancy and once the baby is born.

The geneticist and genetic counselor are probably the most important piece to the Trosack's care. They are choses as part of the interdisciplinary team because a geneticist is a physician who diagnoses, treats and counsels patients with genetic disorders or syndromes. This is where they will be given the most appropriate information about Tay Sach's disease, how it was contracted and what the symptoms and prognosis of the disease are. An in depth discussion to the couple should take place in order for them to understand the exact nature of the disease, the development and what options are available. The geneticist would discuss the pathophysiology of Tay Sachs disease and help them understand how it is inherited. They need to understand that Tay Sachs disease is a very rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord. It is also very rare in the general population, but that the genetic mutations are more common in people of Ashkenzai Jewish heritage, which is eastern and central European, than in other backgrounds. It is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms. This is important for the couple to understand since it could happen 25% of the time. They should have the option to consider this in future decisions on having children.

A genetic...
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