SHM Converge Scientific Abstract ePoster Gallery-'Hunting' to Do the Right Thing: An Ethical Analysis of Huntington's Disease Testing in a Critically Ill Patient

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This case describes a critically ill 53-year-old woman with recurrent melanoma and a family history of Huntington’s disease (HD). During her ICU course, her husband, who was her health care power of attorney, requested HD testing to help guide goals-of-care decisions. A test was initially ordered, but the patient later improved enough to be approached directly and she declined testing. After she declined, her condition worsened again, and the husband continued to press for testing.<br /><br />Further interdisciplinary review with Genetics, Palliative Care, and Ethics revealed that the patient had previously received an indeterminate HD result and had repeatedly said she did not want repeat testing. The husband believed a positive result would make comfort-focused care more acceptable, but he could not explain how a negative or indeterminate result would affect decisions.<br /><br />The authors conclude that HD testing would not have changed acute management or clarified immediate goals of care. Ethically, the patient’s autonomy took priority over the proxy’s request, especially because she had already declined testing. Privacy concerns also mattered, since family members could learn information the patient may not have wanted shared. From a beneficence and nonmaleficence perspective, testing offered no immediate medical benefit and risked psychological harm, distraction from urgent care, and inappropriate use of inpatient resources, since HD testing typically requires genetic counseling.<br /><br />The case supports the decision to refuse the proxy’s request for genetic testing. The authors recommend early involvement of palliative care, clinical genetics, and ethics teams, along with “hard stop” safeguards for inpatient genetic testing. They also emphasize that HCPOA authority is limited and does not override a competent patient’s prior or current wishes.

Asset Subtitle

Paul Ossman

Meta Tag

Author List Ashley Allen, Jennifer J. McEntee, Paul Ossman

Category Clinical Vignettes

Concept Huntington Disease Testing

Concept Patient Autonomy

Concept Privacy

Concept Beneficence

Concept Nonmaleficence

Distinguished Non-Finalist

Presenter Organization University of North Carolina at Chapel Hill, School of Medicine

Presenting Author Paul Ossman

Track Adult

Keywords

Huntington's disease

genetic testing

ICU ethics

patient autonomy

health care proxy

palliative care

clinical genetics

informed refusal

end-of-life decisions

ethics consultation

Huntington Disease Testing

Patient Autonomy

Privacy

Beneficence

Nonmaleficence