The Duty to Warn
Is it ever ethical for a medical professional to breach a patient’s privacy? Consider the case of Gary and Heather, a newly expecting couple, and Gary’s father Fred. Fred was recently diagnosed with a rare genetic disease, Huntington’s. People with Huntington’s slowly lose control of their ability to walk, speak, remember, or even hold a glass of water. There is currently no cure available. A parent with Huntington’s has a 50/50 chance of passing the disease to their child.1 Fred has told his family doctor not to inform Gary about the diagnosis, believing Gary will blame him for his faulty genes. Meanwhile, his wife, Heather, is 9 weeks pregnant and would consider an abortion if she knew the fetus carried the gene mutation for Huntington’s. This case raises a crucial ethical question: does the family doctor have a duty to warn Gary about his father, and Heather about her father-in-law’s diagnosis of Huntington’s, even though it goes directly against Fred’s wishes?
Doctors have increasingly been facing similar dilemmas. Advances in research over the past few decades have identified many connections between genes and existing diseases.2 Using genetic tests in clinical practice have allowed us to diagnose diseases and to assess a person’s risk of developing a particular condition. Genetic testing is unique because it may reveal pertinent information about not only the patient, but also their biological relatives.3 Healthcare professionals encounter conflicting ethical obligations when a patient with a genetic disease refuses to inform relatives who may be at risk of developing the disease as well.2 Legal rulings and regulatory bodies have struggled to define proper guidelines regarding genetic testing and patient confidentiality, but most agree that there is a level of responsibility on the part of the healthcare provider to ensure pertinent information reaches at-risk relatives. This concept is known as the duty to warn.3
Guidelines published by the American Society of Human Genetics state, “Disclosure should be permissible where attempts to encourage disclosure on the part of the patient have failed; where the harm is highly likely to occur and is serious and foreseeable; where the at-risk relative(s) is identifiable; and where either the disease is preventable/treatable or medically accepted standards indicate that early monitoring will reduce the genetic risk.”4 Healthcare professionals should discuss the impacts of their diagnosis with patients and encourage them to inform at-risk relatives. If that turns out to be unsuccessful, then the healthcare provider should ask themselves if relatives have a very high risk of developing the disease, and whether there is a serious and imminent possibility of harm. Ultimately, the harm from failing to disclose information should be greater than the harm from violating the patient’s preferences. If a disease has no cure, and early monitoring does not change the outcome, is it still worth informing relatives?
The guidelines discussed above seem to suggest that without the possibility of treating the disease or preventing it, disclosure bears no value. An increasingly used concept in health care is clinical utility, which is a measure of the extent to which diagnostic testing improves the health outcomes of patients, as opposed to other tests, or no testing at all.5 The clinical utility of genetic testing has been used to inform decision-making and to implement therapeutic and preventative measures.3 Without these outcomes, a test would lack utility and relatives need not be informed.5 However, preventative and therapeutic measures are only one side of the story. Their decision to have children might be greatly impacted with the knowledge of their inherited disease. Moreover, genetic testing allows us to better understand our prognosis and susceptibility to disease, which can be important benefits regardless of the lack of clinical options in managing and treating the disease.6 A 2002 survey conducted on the preferences for cancer screening in adults showed that two-thirds wanted to be tested for cancer even if there was nothing that could be done.7 This is a very important implication for duty to warn: the value of information for relatives, and the psychological benefits of accessing potential future medical developments.
Revisiting our case with Gary, Heather, and Fred, if the family doctor went against Fred’s wishes and informed Gary, the information could be helpful in the future. If ASO-HTT were approved and came onto the market, Gary could be well-prepared to start early treatment. In Heather’s case, prenatal testing could confirm whether the fetus carries the Huntington’s disease gene mutation. If Gary had siblings, they would also carry a 50% chance of inheriting the disease. Informing them about Fred’s diagnosis would be relevant for understanding their future health needs, as well as reproductive planning.2 But the more important question is whether disclosure is ethical. Informing Gary and Heather goes directly against Fred’s wishes. It could greatly alter the family dynamics between Fred and the rest of the family. Gary might resent his father for his risk of disease. Fred may not trust his doctor again after the disclosure, feeling that his privacy was violated. The doctor faces a complicated situation with many possible outcomes and little insight into the appropriate course of action.
The ethical and moral complexities surrounding genetic tests have been revealed over the past decade. Healthcare professionals have an obligation to respect and protect a patient’s right to privacy, but they also have an obligation to prevent harm, a concept known as non-maleficence. The uniqueness of diagnosing a genetically-linked disease is that it not only involves the patient, but also their family. The risk of not informing relatives about a treatable or preventable disease can be considerable enough to inform without consent from the patient. Advances in science have allowed us to link certain genes with diseases and develop faster and more accurate genetic tests, but without a thorough set of ethical guidelines pertaining to test results, healthcare professionals are increasingly facing dilemmas. The duty to warn is a particularly conflicting type of situation that forces us to think about the extent of a patient’s privacy, and the role we expect of medical professionals.
1. Walker F. Huntington's disease. The Lancet. 2007;369(9557):218-228. doi:10.1016/s0140-6736(07)60111-1.
2. Dugan R, Wiesner G, Juengst E, O'Riordan M, Matthews A, Robin N. Duty to warn at-risk relatives for genetic disease: Genetic counselors' clinical experience. American Journal of Medical Genetics. 2003;119C(1):27-34. doi:10.1002/ajmg.c.10005.
3. Falk M, Dugan R, O'Riordan M, Matthews A, Robin N. Medical geneticists' duty to warn at-risk relatives for genetic disease. American Journal of Medical Genetics. 2003;120A(3):374-380. doi:10.1002/ajmg.a.20227.
4. Hudson K, Javitt G, Burke W, Byers P. ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States. Obstetrics & Gynecology. 2007;110(6):1392-1395. doi:10.1097/01.aog.0000292086.98514.8b.
5. Grosse S, Khoury M. What is the clinical utility of genetic testing?. Genetics in Medicine. 2006;8(7):448-450. doi:10.1097/01.gim.0000227935.26763.c6.
6. Burke W. Clinical Validity and Clinical Utility of Genetic Tests. Current Protocols in Human Genetics. 2009. doi:10.1002/0471142905.hg0915s60.
7. Schwartz L. Enthusiasm for Cancer Screening in the United States. JAMA. 2004;291(1):71. doi:10.1001/jama.291.1.71.
Cite This Article:
Maddiboina D., Chan G., Palczewski K., Lewis K., Ho J. The Duty to Warn. Illustrated by R. Michaels-Walker. Rare Disease Review. January 2019. DOI:10.13140/RG.2.2.32448.99845.