Genetic Testing and Decision-Making in Healthcare

In the last few years, there has been a transformation in the way people define health and disease due to breakthroughs that have been made in the field of DNA technology. Clinicians can now detect traits that are inherited, make a diagnosis of heritable conditions, and determine the quality of life that will be lived by those who suffer from these conditions. The human genome project has made a significant contribution to this end. The most important application of knowledge gained from the genome project is the use of genetic testing.

The process of decision-making for aneuploidy screening in the first trimester of pregnancy is marred by a lot of uncertainty. Some people do not understand benefits of the screening at all. The uncertainty is also compounded by consideration of pros and cons of initiating the screening early in the first trimester as compared to waiting for the second trimester. Questions can be raised about the quantity and quality of what is gained from early access to information regarding the fetus. It is also worth noting that barriers to access of prenatal care very early in the pregnancy are a stumbling block in the process of making an informed decision (Maradiegue, 2008).

Initially, screening for aneuploidy was offered to pregnant women who were in an advanced age. However, in the recent past this has become common for any pregnant woman to have this procedure done. For a woman who is at risk of having an aneuploidy fetus, there are challenges concerning the decision for genetic testing. It is imperative to note that most women are not aware that any pregnant woman is at risk of having an aneuploidy child despite the age. The lack of knowledge is one factor that complicates the decision to have an amniocentesis for early genetic testing. Another complication relating to decision-making is the risk of iatrogenic miscarriage in the process of amniocentesis. Emotional trauma that is likely to be suffered by mothers once they realize that the fetus they are carrying has aneuploidy is also worth mentioning. It brings about a lot of emotional stress and severe anxiety. Some mothers believe that knowing the aneuploidy status does not in any way affect the outcome and for this reason they opt to alleviate unnecessary stress by pure avoidance of the screening and testing (Bauer, 2008).


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Couples who desire to have prenatal testing of the fetus for Huntington’s disease should first see a genetic counselor before a woman gets pregnant (Hall, Bostanci, & John, 2009). Even self-testing carries a lot of emotional stress as well as anxiety. It stems from the fear that a person who has been leading a normal life may have the disease, which will make them incapacitated once it manifests. If the decision for one to be self-tested is hard, then it is even harder for an expecting mother. To imagine that their fetus will grow into a person who at one time will become incapacitated is very difficult. Many cases of fetal testing for the Huntington’s disease are done in families where one parent carries the gene and there is a need to exclude the possibility of the fetus having it. Options of terminating the pregnancy, if the fetus is found to be carrying the gene, should be discussed in the counseling clinic. However, simple as it may sound, it is not devoid of emotional distress. Mothers feel a lot of attachment to their fetuses, thus making it difficult for them to decide to terminate the pregnancy impromptu based on results of a genetic test (Allen, 2014).

Prenatal testing for Huntington’s disease can be viewed from an ethical point of view as testing two people where one has not given the consent. The difficulty of this ethical situation exists on the part of a genetic counselor. For this reason, care must be taken to ascertain reasons for a couple seeking prenatal testing and advising them accordingly. For prospective parents who do not wish to discover their own status in terms of the genetics of the disease, there is a non-disclosing test that can be done. In situations such as these, only markers that are close to the gene are tested. Such testing tries to find out whether the fetus has a paternally or maternally derived chromosome number 4. There is a 50% chance of developing the abnormal gene if the chromosome present in the fetus is the one a parent at risk has inherited from a grandparent who was sick. The requirement for comparison of DNA samples of many family members means that it requires a lot of planning. There is also the challenge of identifying a laboratory that is competent to carry out this test (Allen, 2014).

During pregnancy, for a decision to terminate the pregnancy to be made, the testing needs to be done by the end of the first trimester (Caeymaex et al., 2013). Owing to challenges involved in the decision-making process, this is quite difficult. The lack of social support from the community and family members makes it even harder for a prospective parent. As it has been mentioned previously, the process of testing requires one to find a good laboratory to do the testing and, for this to happen, a lot of money is required. Many mothers may not be in a position to afford this. Many other challenges exist as to why these mothers and their families find themselves in a very difficult situation (Caeymaex et al., 2013).

There is a need to expand the nurses’ scope of practice and include a genetic focus into it. The focus will bring benefits into patient care, patient education, and health assessment. There are many reasons as to why this will be of benefit. First, acquisition of new knowledge and skills in the field of genetics will help boost confidence of nurses so that they will feel efficient when taking care of mothers plagued by the above problems. A feeling of efficiency comes with an increase in terms of productivity. Second, it will be of great benefit to patients. Nurses are people who spend the most time with patients and are therefore well placed to give sound advice. With assimilation of new knowledge on genetics, it becomes easier for them to offer the advice (Maradiegue, 2008).

The problem of financial difficulties will be reduced if nurses are trained in matters of genetics. Since nurses are more than genetic counselors, mothers can easily get basic advice regarding genetic testing before they decide to embark on the journey to see a professional counselor. In a fast changing world, everyone should keep abreast with new advancements in their field. With genetics being the new frontier in health sciences, nurses cannot afford to be left behind. In their decision making, they will be guided by their knowledge when encountering situations requiring sound knowledge of genetics. Then, there is expansion of available genetic information to patients. It leads to newer responsibilities for nurses and those who educate others about the profession (Maradiegue, 2008).

Compared to nurses of some years ago, nurses of today should be able to identify inherited conditions as well as their risk factors. They should be in the front line to promote screening that reduces the risk of various diseases. They should also be in a position to refer patients with genetic diseases to appropriate professionals, as well as being advocates of good health practices. They need to be aware of what patients read on the web so that they can appropriately answer questions posed by their patients.

There is a crisis in the health sector since nurses in the field have not received proper training in genetics, yet their practice requires them to be well-versed in this area. The response is good since most nurses are willing to improve their knowledge by taking short courses in genetics for the benefit of their careers and patients. The crisis intervention has been done through provision of incentives for nurses to go back to school and learn more about genetics. The use of online resources by nurses to address some challenges they may be facing has also salvaged the situation. A lot of knowledge has been drawn from colleagues with expertise in the field of genetics (Bogaard & Johnson, 2009).

Identification of individual barriers and strengths in the efforts to deal with the crisis cannot be overlooked. It is important so that help can be offered when it is needed. It is also necessary in order for people in authority to come up with policies that are favorable both for nurses and their patients. For patients, this will save them from unnecessary stress and anxiety since they will have their nurses to turn to. Since nurses constitute the majority of health workers, this will be an important step in the right direction. Identification of strengths and allocation of awards will play a vital role in improving service delivery (Bogaard & Johnson, 2009).

Finally, the present has become extremely exciting for nurses who possess necessary skills in their specialty. With their responsibility of being patients’ advocates, caregivers, and educators, nurses must embrace genetics as a new way of improving their services. They have to do this if they are to be involved in decision and policy making aimed at advancing healthcare in terms of genetic research.

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