Abstract
This paper critically examines the institutional practices of genetic counseling and testing for Huntington’s Disease (HD), a heritable and incurable neurodegenerative disorder. Drawing from Amartya Sen’s idea of justice and current genetic counseling practices, we make the case that genetic counseling and testing practices for HD must be improved within nonideal conditions with the goal of increasing the capabilities of patients as the main stakeholders in the process. While healthcare practitioners and medical institutions often create protocols and testing guidelines with the best interest of patients in mind, we assert that they fail to account for the obstacles and exclusionary mechanisms that result from the complex institutional interplay of healthcare as an ideal and the existing US health insurance system—a nonideal intersection that ultimately comes at the expense of individuals and families suffering from or at risk for HD. We make use of Amartya Sen’s realizations-oriented approach to justice to develop an ethical critique of the current institutional practices around HD, as well as to make proposals for a more just system of care that, though starting from nonideal conditions, values the lives and enhances the freedom of HD patients. To this end, we make a concerted effort to incorporate our combined philosophical, bioethical, and personal experiences with genetic counseling and testing literature in our critical analysis.
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Notes
- 1.
The majority of the cited reasons that people forego HD testing exemplify what Neitzke asserts in Chap. 4 in this volume (“Critical Theoretical Methodology for Nonideal Contributions to Bioethics”): what appear to be moral dilemmas in health care are often “systemic dysfunctions in health care’s material production.”
- 2.
And it is precisely these costs that are prohibitive. GINA is relevant for those who have already tested positive for HD, but not for those who are in need of testing. Additionally, someone with a family history of HD might wish to use PGD, which would make it possible for people with HD to have children without putting them at risk, but not know their own genetic status. Each PGD attempt costs around $15,000 and is often not covered by insurance, regardless of whether or not one has secured an HD diagnosis.
- 3.
“Phenomenologically liminal” refers to the time in which a patient may suspect they harbor a disease, but lack confirmation via genetic testing. For some people this state is ongoing for years due to a prominent family history of a disease, while for others it may be a state that they experience for a short time between knowledge of a disease risk and access to genetic testing.
- 4.
Most insurance companies conduct their own health check prior to insuring, and genetic counselors generally discourage patients from anonymous testing because they prioritize the benefit of having a complete medical history in order to provide adequate health care.
- 5.
Some testing institutions even consider the guidelines to be too onerous and may often choose simpler paths toward testing in order to make the process more accessible for patients.
- 6.
We are greatly appreciative of Margaret Urban Walker’s assistance in working through Sen’s material.
- 7.
Capabilities are both instrumentally and intrinsically valuable, both as a means for individuals to develop and extend their freedom, and also as ends to enjoy in-themselves.
- 8.
See Chap. 9 in this volume (Gotlib, Anna, “Power, Identity, and Liminality in an American Hospital”) for a broader discussion of the interplay of institutions and patient identity, and how existing institutional practices diminish the agency and moral standing of those compromised by illness.
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Xhelili Ciaccio, M., Dumaine, D. (2021). Huntington’s Disease Testing in a Nonideal World. In: Victor, E., Guidry-Grimes, L.K. (eds) Applying Nonideal Theory to Bioethics. Philosophy and Medicine, vol 139. Springer, Cham. https://doi.org/10.1007/978-3-030-72503-7_18
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