Question

Screening tests for genetic issues can be performed in the first trimester, second trimester or both trimesters. Carrier testing is also an option performed prior to or during pregnancy. Carrier testing provides information as to whether one or both parents are carriers for certain inherited disorders. The results of these tests are used to determine an appropriate plan of care for the patient.

Genetic testing of the fetus and the parents offers both opportunities and ethical challenges. As a Registered Nurse, you need to be aware of your own feelings to provide non-biased professional support.

Compose a response to the following:

• Implications of genetic testing and the role of the registered nurse in providing support to a couple seeking guidance. Provide one example of how genetic testing is used in the reproductive (preconception, conception, pregnancy) setting.
• Consider if the registered nurse has the right to refuse to care for patients who choose termination of pregnancy based on genetic testing when it conflicts with the ethics and values of the nurse.
• Discuss how medical, economic, or psychosocial issues might impact decision making relative to genetic testing.

Answer 1

A genetics nurse is a licensed professional nurse with special education and training in genetics. Genetics nurses help people at risk for or affected by diseases with a genetic component achieve and maintain health. Many common diseases are now known to have a genetic component including cancer, heart disease, diabetes, and Alzheimers.

Genetics nurses perform risk assessment, analyze the genetic contribution to disease risk, and discuss the impact of risk on health care management for individuals and families. They also provide genetics education, provide nursing care to patients and families and conduct research in genetics.

Genetic counseling is the process of determining the risk you have of passing on an inheritable disease to your baby. Genetic counseling involves a specially trained health care professional who identifies families at risk, investigates the problem present in the family, interprets information about the disorder, analyzes inheritance patterns and risk of recurrence, and reviews available options with the family.

Genetic counselling explores the complex emotions that motivate an individual to seek information and testing. Information is provided by the genetics team in a balanced non-directive manner so that the individual is supported to make a decision that is right for them. Simply asking for a test and taking a blood sample for testing is not a procedure that should be hurried or entered into lightly. A new diagnosis in a family can lead to demands for testing to take place quickly and immediately and deciding to have a test at times of great anxiety and distress can lead to regret in the future. Conversely, there can be pressure from within a family not to have a test. Sometimes new information or a diagnosis will motivate an individual to seek further genetic information and testing. Others may postpone seeking information about themselves or their family history until their personal circumstances change (e.g. prior to getting married or when planning a family). Occasionally, an individual is too frightened to seek out information because they may have witnessed the affect of a diagnosis on the life of a family member, or are still coming to terms with their own diagnosis.

Genetic counselors are an important part of the healthcare team. They work with patients and their families to help them understand genetic testing, guide them through the process and help them make informed choices based on their genetic testing results. Some also work in laboratories and help physicians select the most appropriate genetic test, determine the likelihood that the test will be useful, discuss the test’s limitations and help ensure the results are understood. Genetic counselors collaborate with a variety of specialties including pediatrics, neurology, cardiology, prenatal and cancer.

Genetic counselors work with doctors and other members of the health care team to help patients understand what their family history means to them, decide what genetic tests to have, and know how to use the test results to make the best treatment choices.

When you are working with a genetic counselor, there are a number of things you should expect. You should start with your blood relatives on both sides to begin creating a comprehensive background on specific diseases and why they occurred. This is probably the most important part of evaluating genetic risks.

To help facilitate this evaluation, a health care professional will probably ask some of the following questions:

• Do you have a history of diabetes, hypertension, cancer, or twins?
• Are there any diseases that seem to run in your family?
• Is there a history of genetic disease like cystic fibrosis, hemophilia, or muscular dystrophy?
• Is there anyone with an intellectual disability or any kind of birth defect?
• Have any of your sisters, cousins, or other relatives had problems with their pregnancies?
• Are your parents alive, and are they healthy?
• What is your ethnic background?
• Is there any reason that you suspect that your baby may be born with a birth defect or other medical problem?

A gene is a segment of DNA that is coded to pass along a certain trait; it has a specific task (i.e., determining the color of your eyes). Genes are the simplest building blocks of heredity. They are grouped together in specific patterns within a person’s chromosomes, forming the unique “blueprint” for every physical and biological characteristic of that person.

Chromosomes are made up of deoxyribonucleic acid (DNA) molecules. Humans have 46 chromosomes arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent.

Genetic disorders may be caused by of a variety of factors. Genetic disorders may be caused by chromosomal abnormalities. Disorders may also be caused by a single gene.

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.