Genetic Testing: A Blessing or a Curse?
In the 1950s, genetic testing, a type of medical test that identifies changes from default configuration in chromosomes, genes, or proteins, was introduced and began its long journey of technological and scientific evolution throughout the decades to come. The technique of genetic testing is a novel addition to the ever-growing medical industry as it can confirm, rule out, or help determine a person’s chance of developing or passing on a suspected genetic disorder based on various factors. From examining a broader set of the population with Genome-Wide Association Studies (GWAS) to testing for a single base in a person with Variant Specific Testing, genetic testing has proven to be an effective and efficient measure for identifying mutations. However, many adult-onset genetic disorders are progressive and get worse over time, which can have long-term health consequences. When a person is at risk for a progressive, non-preventable disorder due to family history, should the individual undergo genetic testing to rule out the possibility of having the disorder in his or her lifetime? What good will it do anyone to identify a disease they already know there is not a cure for? Will the person still be able to buy insurance or live the same future that was originally planned?
An example of a genetic disease that usually encompasses genetic testing is Huntington’s Disease (HD). As exhibited in a 13-year Canadian study, “only 3% to 24% of at-risk individuals get predictive testing (Creighton et al., 2003)” (Nature). HD is not treatable, so knowing one’s status can influence many life decisions. HD’s age of onset of symptoms is relatively late, people can already passed the disease to their children before its diagnosis. What if you already had kids? What if the testing revealed that you had not inherited the mutation, but instead, your siblings and children had? Usually, genetic testing can lead to feelings of guilt and unhappiness, as a study has also shown that people with a family history of genetic disorders who know they are at risk but do not get tested can often have difficulties in social interactions. In either case, whether to test or not is a complex decision with numerous follow up questions.
However, once a test has been conducted, there is also another dilemma for the carrier, whether to inform his or her status to the family? Though the patient has full right to his medical privacy and may not wish to communicate his or her own genetic risk to family members who are also at risk, but this throws the medical professionals in a bigger dilemma. Should a medical professional get involved if they become aware that communication in a family is blocked? People usually feel a greater imperative to breach confidentiality if preventative treatment options for reproductive choices are at stake. This leads to questioning the medico-legal principles of confidentiality and privacy.
Now take a look at Preimplantation Genetic Diagnosis, whose main purpose is to test embryos for genetic flaws. If PGD detects a genetic disease in an embryo, “the embryo is discarded” (Delk) and helps minimize the probability of genetic diseases. However, on the contrary, when parents use PGD to genetically enhance their children to be more intelligent or have desired traits, then they are failing to do good because their method of reaching the end of “improving humanity” is unethical. “PGD may lead to discrimination and possibly a form of modern eugenics’” (Delk). It could create a world of designer babies where the number of people with desirable traits would increase over multiple generations and create a superior vs. inferior class of humanity. However, PGD is not accessible to everyone and would also discriminate against the poor as according to the American Society of Reproductive Medicine, the average price of PGD in the US is $3,550. As a relief, it’s unlikely for insurance to cover PGD, therefore, it can’t be universalized and divide humanity completely though it might benefit the rich to a certain degree.
On the other hand, from a utilitarian perspective, it’s most ethical to share the information gained from genetic testing as it will ensure the greatest benefit. Although it’ll cause one individual to not be content, the rest of the population will benefit from the knowledge. Especially for diseases that have existing cures, genetic editing is extremely beneficial. In the case of genetic testing, clashing ideologies and beliefs will always come at a crossroads, and there will always be disputes in what ethical lens to use and what is ethically right.
Despite all of this, the concern of privacy remains. A person who’s known to have a high risk for a genetic condition “may have difficulty obtaining insurance because he or she is likely to run up medical bills that would be costly to the insurance company” (Nature). HIPAA, a federal law, passed in 1996 that gave protections against genetic discrimination, says that insurance companies were prevented from charging higher rates to customers based on genetic information. This law led to another essential thing to be considered when deciding whether to do genetic testing: the possibility that if someone knows you are likely to develop a genetic disorder in the future, they could use that info against you. If an employer knows that an employee is likely to be diagnosed with cancer or HD, the employer might not want to retain that employee. Thus, a more comprehensive federal measure, GINA, was signed into law in May 2008 and was designed to prohibit some forms of genetic discrimination. GINA is adopted by the Equal Employment Opportunity Commission (EEOC) to prevent employers from using genetic information in employment decisions such as hiring, firing, promotions, pay, and job assignments.
Overall, genetic testing is quite a fantastic discovery, and the ability to test and learn about the history of the disease in families is profound. However, genetic testing also has the potential to devalue human life and make children a product that suits one’s desired characteristics, which is a negative form of eugenics. If used correctly, it could be beneficial, but there are too many factors to consider that play into deciding whether to test or not.
Works Cited
Nature News, Nature Publishing Group, www.nature.com/scitable/topicpage/ethics-of-genetic-testing-medical-insurance-and-651/.
Delk, Emily. “A Kantian Ethical Analysis of Preimplantation Genetic Diagnosis.” CedarEthics: A Journal of Critical Thinking in Bioethics, vol. 12, no. 2, 2013, pp. 1–6., doi:10.15385/jce.2013.12.2.1.
Bibliography
Institute of Medicine (US) Committee on Assessing Genetic Risks. “Social, Legal, and Ethical Implications of Genetic Testing.” Assessing Genetic Risks: Implications for Health and Social Policy., U.S. National Library of Medicine, 1 Jan. 1994, www.ncbi.nlm.nih.gov/books/NBK236044/.
“Medical Ethics: the Principles Used by Doctors to Make the Toughest Decisions.” Oxford Summer School from Oxford Royale Academy, 29 Aug. 2018, www.oxford-royale.com/articles/medical-ethics.html#aId=b9c302b6-8673-49fb-90e4-aabbfbdc30c1.
