Case Study – Genetic Disorder and Ethical Considerations

Case Study – Genetic Disorder and Ethical Considerations

The case study genetic disorder is Huntington’s Chorea, a single-gene inheritance disorder. Huntington’s disease is an autosomal dominant disorder; hence, a person needs only to inherit one abnormal copy of the Huntington gene from either the father or mother to have the disorder (National Institutes of Health, 2023).

Disclosing the Incidental Finding

A geneticist in this case study faces the following ethical dilemma: whether to disclose an incidental finding regarding the patient being a carrier for Huntington’s disease when the couple was testing only to rule out cystic fibrosis. There are valid arguments from both sides on this issue. On the other hand, respect for autonomy would support patients’ right to be informed about any overarching genetic findings, even if they were not originally focused on testing. Keeping it from them, under this view, would be a violation of the right of patients to make informed decisions regarding their health or reproductive choices. Moreover, the geneticist owes the patient a beneficence duty to secure, whenever possible, the best interest of the latter, which includes an obligation to provide these patients with such crucial health information (American Medical Association, 2022).

The principle of nonmaleficence—avoiding harm—however, may be perceived as opposing disclosure of Huntington’s finding (American Medical Association, 2022). After all, the disclosure is most likely to inflict huge amounts of psychological stress and anxiety on the patients and may further lead them to irreversible decisions out of fear, like not having children at all. There is also a probable risk that being Huntington’s positive will affect the mental health, employment, and insurance coverage of the patient.

Autonomy vs. Beneficence

In this case, respect for autonomy and beneficence appear to conflict with each other. Respect for autonomy suggests that patients have the right to know the findings. At the same time, beneficence is supposed to demonstrate that withholding from divulging such information may be the more kind, protective action toward them (American Medical Association, 2022).

Finally, I believe the geneticist has a duty to inform the patients about the finding of Huntington’s. While the latter will indeed inflict pain on them in the short term, the withholding of information has a greater violation of their autonomy and rights in making informed decisions in matters involving health and reproductive choices. The patients should be appropriately counseled and supported to enable them to make decisions in this very difficult situation; however, they have to be empowered to make their own decisions.

Principles of Effective Advocacy

This decision supports the Effective Principle of Advocacy from the Community as Partner textbook, which says that effective advocacy requires respect for the autonomy and self-determination of the individual or community (Maurer & Smith, 2018). The geneticist will respect their autonomy and their right to self-determination and, therefore, disclose Huntington’s findings by providing the information necessary to make effective decisions.

Ethical Principles in Public Health

The ethical principle from the Principles of Ethical Practice of Public Health in the Public Health Nursing textbook that would guide this decision is the principle of “respect for persons” (Stanhope & Lancaster, 2019). In essence, this tenet emphasizes that persons’ autonomy and dignity shall be protected. It promises them information and support to help discharge decision-making duties toward their personal health and welfare.

In this case, respecting patients’ autonomy and the right to make informed decisions in health matters and in their reproductive choices takes precedence over the possibility of short-term distress or harm. By giving the patients this critical information regarding their genetic makeup, the geneticist enables them to make informed decisions that correspond to their values and priorities—something at the very core of the “respect for persons” principle of ethics.

Potential Implications and Considerations

It should be noted, however, that disclosure of Huntington’s findings may have far-reaching implications for the couple regarding their personal and reproductive choices and access to health care and insurance coverage. The geneticist will need to be competent to counsel and support these patients satisfactorily on such complex issues. For example, the discovery that one of the partners is a carrier for Huntington’s disease could raise serious questions about having children or using alternative ways to raise them, such as preimplantation genetic testing or adoption. The emotional toll from this kind of knowledge can be huge, and as such, the geneticist should make sure that the patient has mental health resources and access to support services.

Moreover, disclosure of Huntington’s findings can affect the couple’s insurability for specific types of insurance, such as life or long-term care insurance, or chances of getting employment in case such information becomes known without their consent. The geneticist should be aware of these possible consequences and provide the patients with guidance concerning their legal rights and protections.

Conclusion

This case example poses an ethical dilemma between some of the complex and many times competing principles regarding sensitive genetic information that a healthcare professional has to deal with. I would understand the possible harm and distress to the patients, but the principle of respecting their autonomy and rights to make informed decisions regarding their health and reproduction outweighs the potential for short-term negative consequences.

The geneticist will empower the patients to make decisions that will uphold their values and priorities by disclosing the findings about Huntington’s and providing appropriate counseling. This decision is, therefore, in tandem with the Effective Principle of Advocacy described by Maurer & Smith in 2018 and the “respect for persons” principle espoused by Stanhope & Lancaster in 2019 in public health, placing a premium on the autonomy and self-determination of persons.

References

American Medical Association. (2022). AMA Principles of Medical Ethics. https://www.ama-assn.org/about/publications-newsletters/ama-principles-medical-ethics

Maurer, F. A., & Smith, C. M. (2018). Community as partner: Theory and practice in nursing (8th ed.). Wolters Kluwer.

National Institutes of Health. (2023). Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/

Stanhope, M., & Lancaster, J. (2029). Public health nursing: Population-centered health care in the community (10th ed.). Elsevier.

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A couple in their mid-twenties go to a genetics testing center. They want to have children; however, there is a history of cystic fibrosis in her family. They want to rule that out before they stop using birth control.

Genetic Disorder and Ethical Considerations

When the testing returns, the geneticist knows they will be elated that neither is a carrier of the cystic fibrosis defect. There was an incidental finding, though. It turns out he is a carrier of Huntington’s chorea. The geneticist is grappling with the impact on the couple.

Instructions
Navigate to the NIH Genetic and Rare Diseases Information Center(new tab) website to choose a genetically linked disorder as the basis of your discussion participation.
The four types of inherited genetic disorders: are single-gene inheritance, multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. Under which type does your chosen genetic disorder fall?
Should a geneticist disclose the findings of a genetically linked disease even though that was not what the patients intended to investigate or rule out? Why or why not?
Explain how autonomy could be at odds with beneficence.
Is your answer in line with one of the Effective Principles for Effective Advocacy from the text? If so, which one?
What ethical principle from the Principles of Ethical Practice of Public Health from the textbook would guide or direct your decision?