Ethical Issue of Genetic Testing

Ethical Issues of Genetic Testing


Genetic testing provides the healthcare providers with an avenue of determining mutations of genes that are likely to lead to illnesses. It entails the examination of an individual’s DNA which forms the chemical database guiding the functions of the body. In the long haul, the process allows for diagnosis, treatment, and prevention of conditions.

These moves are usually directed by personal values and the growing knowledge of the genetics of the diseases. The most common genetic testing include prenatal and newborn screening. Diagnostic testing focuses on the identification of current disease status (Groepper et al., 2015). Carrier testing, on the other hand, determines if an individual carriers a certain genetic trait. The predictive testing allows for the determination of the presence of a genetic mutation that has the probability of a late-onset disorder. This article dwells on the genetic testing and the ethical issues that surround the issue.

Ethical issues in genetic testing are significant to the medical practitioners since it acts as a guidance of the scope under which they can operate in engaging in the diagnostic process entailing the genes of individuals. Besides, the ethical issues are essential to the medical fields as they allow for effective performance among the healthcare providers as they are tasked with maintenance of the interests of patients and families while addressing these issues and harmonize them to fit the situations that usually differ in different cultures, religions, and beliefs (Botkin et al., 2015). Furthermore, the ethical issues allow for balancing between benefits and disadvantages that may erupt from the genetic testing and in the long run provide counseling to individuals and families on what fits them.

The numerous aspects of the genetic testing lead to an ethical dilemma which is of great essence to the healthcare practitioners. These include the limitations that the genetic testing can provide since some tests are not able to identify all the probable genetic mutations leading to specific conditions. In the end, the limited predictive value makes the test not to provide information that a family may be looking for. This can lead to difficult decisions without giving the full information that was expected.

An instance of the ethical dilemma is whether to test conditions that have no cure since not all the conditions tested via genetic testing have cure. Unlike the screening of conditions such as phenylketonuria whose management can take the dietary modification root with healthy and productive outcomes evident, there exist tests such as tandem mass spectrum which has the capability of detecting more than 20 conditions some of which have no cure. This makes both the parents and healthcare providers to make tough decisions on whether to determine problems of which they can’t provide a solution to solve it.

Another ethical issue that erupts in ethical testing is the presence of false positive and false negative results that are usually evident in the screening tests (Ross et al., 2013). The multiple maker screening determines expectant mothers whose fetuses are at risk for chromosomal conditions as well as neural tube defects. This test has the capability of determining 60% of pregnancies with Down syndrome and 80% of pregnancies that have neural tube defects. The wide range existing in these percentages indicated that one could have a false negative outcome and end up having the defect while other may have false-positive results and turn to have a normal baby.

Another legal aspect of the genetic testing is the genetic discrimination. This occurs when there is ruling on mandatory sterilization to curb having a pregnancy with fetal abnormalities. In this case, an individual is coerced to use various contraception methods after a genetic testing session that indicates the fetus to be having a genetic disorder. This makes the patients and the healthcare providers to feel the reproductive rights of individuals are infringed. The discrimination ranges from the mandatory testing that the African Americana are subjected to before they are enrolled to various facilities in the determination of sickle cell anemia to workplace discrimination where workers are subjected to tests to determine carpel tunnel syndrome to determine their level of claims towards medical attention.

Various ethical principles also come out in the process of genetic testing to different populations. This is so because a number of cultures of societies react differently to genetic testing programs as there is a need for the provision of informed consents as well as guaranteeing of autonomy(Ross et al., 2013). This may depend on the level of education, security in the society as well as freedom that the individuals have. This takes the legal line where the genetic testing should maintain the social rights of individuals through maintenance of confidentiality while at the same time making the test seem optional even in the instances of carrier screening tests. The secrecy of the outcome of the results is essential as it may lead to social humiliation to an individual when it is shared.

The health practitioners are posed with challenges such as keeping patient information confidential, yet the public health personnel is tasked with the determination of probable exposures and advocating for testing relating to the communicable conditions which indeed are reportable (Richardson & Ormond, 2017). These reportable conditions are usually drug-resistant or a global health risk that leads to widespread immunologic genotyping. The issues of disclosure erupt when the mandatory screening is expanded to cover these reportable conditions. All these are pegged on the healthcare system to be responsible for the confidentiality of genetic testing.

The confidentiality of the genetic testing also turns to be challenging to the healthcare professionals especially where other family members are to be involved. Despite the fact that the sharing of information must follow consent by the patient, it may be essential for other family members to get the information on the consequences and frustrations that may develop in future of a child whose condition is preventable by predicting such information.

Also, healthcare providers also face a dilemma in the intervention to be taken especially after determination of a genetic disorder forms a genetic test (Botkin et al., 2015). The issues of termination of pregnancy usually conflict with moral values in the society and may be challenging to the healthcare providers.


Ethical issues pose a significant part of the medical genetics. This is so because of the ever-expanding nature of medical genetics as well as genetic testing criteria. This hence leads to the increased responsibility to both the patients and the healthcare practitioners to catch up with the legal and the ethical aspects of the genetic testing. Individuals are usually concerned about their engagement in the genetic testing and sharing of the information on the results of such results since it increases their probability of being abused and even threaten their lives. This calls for the healthcare team in balancing the needs of families and individuals prior to taking them through the genetic testing and even assist them to handle the situation at hand by providing a remedy as well as maintaining the confidentiality of their genetic information.




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