In the ever-expanding field of genetics, scientists have the capability to see into a patient’s future. By using predictive genetic testing, geneticists are able to determine if a patient will likely develop a disease later in life, despite never having had symptoms or a family history of the disease.
However, many people worry about how having a predictive genetic test may affect their lives. The United States, in particular, has a history of genetic discrimination. In 1927, Buck v. Bell upheld the Virginia State Law that made sterilization for the mentally disabled mandatory as part of a eugenics-based social movement. Even in 1970, African-American schoolchildren were prevented from entering school because they refused to undergo a genetic screen for sickle cell anemia (1). Although neither of these laws exist today, the social stigma against those with genetic disorders still remains.
A person’s genetic information is of an incredibly private nature. Many patients worry about how the results of a genetic test may affect their jobs and insurance coverage. In 2008, the Genetic Information Nondiscrimination Act (GINA) was passed to protect individuals from both employers and insurance companies. GINA prevents employers from using genetic information to make decisions about salary, hiring, or other decisions regarding an individual’s employment. GINA also prevents insurance companies from using genetic information to make decisions about a person’s insurance eligibility and associated costs. Additionally, insurance companies cannot use family history or genetic test results as grounds for excluding someone for pre-existing conditions. This law was designed to make patients more candid with their doctors about possible genetic disorders and to give them a sense of security that their rights are protected, even when getting a genetic test (2).
Another component of genetic testing is the psychological effects of possibly discovering a late-onset genetic disorder and the anxiety-inducing time spent waiting for the disease to develop (4). However, consider a patient being screened for BRCA1/BRCA2. While waiting for the cancer to develop may be stressful, the consequences of avoiding the test altogether are far worse. Having the power of the knowledge of a predisposition to a disease increases the options that patients have for treatment and prevention. Furthermore, just having the information appears to have a beneficial effect: patients tested for Huntington’s Disease (a genetic disease characterized by the progressive breakdown of brain cells) reported that they experienced less depression post-result than they had pre-screening, regardless of the test result (5).
In the 1960s, a set of general guidelines to determine who should receive predictive genetic tests was proposed. It was, and often still is, believed that a predictive genetic test should only be performed if 1) there is a treatment option available; 2) the cost has been evaluated to see if preventative measures would be more expensive than simply treating the disease when and if it arises; 3) the condition can be considered significant in terms of its impact on the sufferer; and 4) the condition is well understood, among other criteria (5). These guidelines, however, are both outdated and unethical. Even if treatment is unavailable or expensive, a patient still has the right to know about his or her genetic makeup. Likewise, despite the unknown nature of a condition, it may still be important to the patient. A person’s genetic information is a part of his or her identity, and personal identity is a basic human right. Therefore, genetic testing should be made available to any person who wants it, provided that they are well informed of the potential consequences of knowing the results.
Furthermore, there are dangers in not presenting genetic information to patients when there is an effective way to test them for certain disorders. If a person is predisposed to a given condition, but is not aware of it due to a lack of testing, the individual does not have adequate information to seek available treatments (1). Even if preventative care is unavailable, knowing about a genetic predisposition can help patients identify early symptoms in cases in which the disease arises later in life. Moreover, the field of genetics is rapidly expanding: despite treatment being unavailable at the time of the diagnosis, it may become available by the onset of the patient’s symptoms.
Predictive genetic tests can also help doctors decide if treatment is necessary on a case-by-case basis. In the UK, for example, more than half of the adult population has raised cholesterol (3). However, not all of these patients need treatment. Doctors can use predictive genetic tests to determine if a patient with high blood cholesterol also has a genetic predisposition for coronary heart disease, thereby allowing doctors to provide more precise care to their patients (4).
The benefits of predictive genetic tests overwhelm the potential negative effects on patients’ outlooks about their conditions. Additionally, increased use of genetic testing can aid in the development of more efficient treatment options. Provided that patients understand the risks associated with learning about one’s genetic makeup, they should have the opportunity to learn about their own genes.
- Fulda, K., Lykens, K. (2006). Ethical issues in predictive testing: a public health perspective. J Med Ethics. 32(3): 143-147. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564466/
- GINA: Genetic Information Nondiscrimination Act. Genetics Alliance. Retrieved from http://www.ginahelp.org/#
- Key Facts and Figures. Heart UK. (2017). Retrieved from https://heartuk.org.uk/press/press-kit/key-facts-figures
- Shickle, D., Chadwick, R. (1994). The ethics of screening: is ‘screenginitis’ an incurable disease? J Med Ethics. 20(1): 12-18. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376367/
- Robertson, S., Savulescu, J. (2001). Is there a case in favor of predictive genetic testing in young children? Bioethics. 15:26-49. Retrieved from https://s3.amazonaws.com/academia.edu.documents/46853716/IS_THERE_A_CASE_IN_FAVOUR_OF_PREDICTIVE_GENETIC_TESTING_IN_YOUNG_CHILDREN.pdf?AWSAccessKeyId=AKIAIWOWYYGZ2Y53UL3A&Expires=1505869835&Signature=n7grfylFOfPNT5X8kJ4Yszz6r8w%3D&response-content-disposition=inline%3B%20filename%3DIS_THERE_A_CASE_IN_FAVOUR_OF_PREDICTIVE.pdf