Genetic testing has become increasingly accessible to the public since its development in the 1950s, creating a greater need to consider its ethical implications. First, there is a significant risk of discrimination based on genetic testing results. Genetic discrimination is defined as “discrimination directed against an individual or family based solely on apparent or perceived genetic variation from the ‘normal’ human genotype”.1 This form of discrimination is especially concerning as it may make access to health services and insurance plans more difficult and expensive. The Health Insurance Portability and Accountability Act (HIPAA), passed in 1996, provides some protections against genetic discrimination but does not prevent insurance companies from increasing prices based on genetic testing or mandating genetic testing. Twelve years later, in 2008, the Genetic Information Nondiscrimination Act (GINA) was passed, offering more comprehensive and detailed protections.2 These include protection against genetic discrimination in employment, in health insurance coverage, and greater confidentiality, specifically in relation to HIPAA.

 

     Although these safeguards exist, the continued growth of the field necessitates the establishment of firm ethical guidelines for genetic testing practices. Additionally, there are privacy concerns inherent to all medical technologies. There is already an established framework for data protection and privacy, specifically for health informatics, which can be applied to genetic data.2 However, this framework needs to be expanded to reduce genetic discrimination and address whether genetic data should be accessible to insurance companies.

 

     Another major ethical concern related to genetic testing involves reproduction. Preimplantation genetic diagnosis (PGD) refers to genetic testing on an embryo fertilized in vitro.3 Although the test does not damage the embryo, it allows parents to avoid having a child with a genetic disorder without pursuing an abortion.4 This procedure can significantly influence parents’ medical decisions regarding the embryo. Parents may also opt to genetically modify the embryo to create a “designer baby”.4 This issue is highly debated within biomedical ethics due to questions about the identity and rights of an embryo. While a fetus is not destroyed during the process, many embryos created through in vitro fertilization remain unused and are unlikely to be adopted. Other objections concern selective implantation’s impact on reducing genetic diversity. These ethical challenges parallel those associated with germline gene therapy and genetic engineering. Finally, this technique has been used to create a perfect bone marrow match for an existing sick child. Creating a “savior sibling” raises ethical issues such as commodifying children, prioritizing superficial traits, and concerns about child welfare.5 Using children as a source for blood, bone marrow, and other bodily organs creates the impression that the child is a form of a commodity. Having a child solely for their body emphasizes this perspective. Furthermore, this instrumentalization results in the children being mistreated as they are not seen as humans, but rather as objects.

 

     Another set of ethical implications lie within the societal approach. Genetic testing is currently very expensive and is therefore only accessible to higher-income individuals. Similar to the way in which risk factors are used to predict the chance of a disease in a person, the results of genetic testing can provide key insights and act as an incredible diagnostic tool for many types of cancers, cystic fibrosis, Tay-Sachs disease, and more. Therefore, this disparity in access would lead to worse health outcomes for disadvantaged households. Additionally, predictive and carrier testing would become even more exclusive, raising questions about the disparity in preventative care access between those from higher and lower income groups. The ethical implications of making this powerful resource accessible to a limited group needs to be examined closely, specifically in terms of insurance policies, as not doing so can once again exacerbate healthcare inequalities amongst minority and low-income populations.

 

     In conclusion, as genetic testing techniques advance, it is crucial to establish strict ethical frameworks and guidelines to prevent discrimination and the unethical use of genetic information. Equally important is ensuring that fundamental ethical practices, such as informed consent, are upheld in this evolving field. Genetic testing applications outside healthcare must be closely monitored for ethical violations and false promotions, while healthcare institutions must safeguard genetic data and use it responsibly. A stable ethical foundation is key to empowering individuals to use genetic testing to better understand their health.