Case Presentation: 53-year-old woman with locally recurrent melanoma and a family history of Huntington’s Disease (HD) presented with complications of cerebral venous sinus thrombosis and subdural hematomas. On hospital day 2, she suffered a cardiac arrest in the setting of QTc prolongation from antiemetics leading to dependence on hemodialysis, mechanical ventilation, and pressors. She was unable to communicate due to sedation and encephalopathy. The patient’s husband, her health care power of attorney (HCPOA), was reluctant to make decisions regarding his wife’s goals of care (GOC) without testing for HD.During the ICU transfer, a provider ordered a HD test per the husband’s request. Per protocol, Clinical Genetics was alerted prior to testing. Patient’s clinical status subsequently improved. She was approached alone for informed consent for HD testing, and she declined.Her status again declined and her husband expressed frustration HD testing had not been done. As part of several interdisciplinary meetings with Clinical Genetics, Palliative Care (PC) and Hospital Ethics, additional information was obtained.Patient had received an indeterminate HD test several years prior in the context of potential childbearing. Since that time, she repeatedly expressed no interest in retesting. Her husband stated that pursuing comfort-driven measures would be more bearable if he knew that his wife was positive for HD as a positive test result would reflect a higher power’s desire to protect her from future suffering. He was unable to explain the impact of alternative possibilities including an indeterminate or negative test.
Discussion: HD testing would not affect patient’s acute management or inform current GOC. Additionally, even if testing was positive, the patient’s future course with HD was completely unclear.Autonomy: The HCPOA’s desire for testing was not sufficient to override our patient’s autonomy given her decisions to forego HD testing.Privacy: If the patient were to recover, additional ethical concerns would arise due to the family’s knowledge of results that the patient may not want known.Beneficence and Nonmaleficence: The patient’s HD status did not play a role in acute medical decision-making and distracted from the necessary focus of the immediate GOC. Additionally, HD testing involves genetic counseling apart from laboratory testing and is generally outside the scope of inpatient care. Lastly, if the patient survived her acute illness, testing could result in undue psychological stress.
Conclusions: It was permissible to refuse the proxy’s request for genetic testing. Ethical principles align with respecting this patient’s autonomy, providing the standard of care, and denying a request for a test that would not benefit the patient and would confuse immediate needs with long-term uncertain variables. General Recommendations Regarding Genetic Testing of Hospitalized Patients:•System hard stops on genetic testing allow for additional thought prior to testing resulting in more than cost reduction.•Early consultation of PC, Clinical Genetics, and Hospital Ethics prior to ordering a genetic test can avoid the issues of inappropriate testing.•HCPOA decisions do not extend to all areas of medical treatment. Instead, HCPOA decisions are limited to the specific decisions surrounding the episode of care.•Developing an ethical framework regarding complex medical decisions may lead to less moral distress amongst the health care team while providing competent and compassionate patient care.