A woman first presents with an autosomal dominant disorder at the age of 40 years, undergoes testing, and is found to carry a particular mutation in a gene known to be involved in this disorder. She is planning to discuss the results with her teenage daughter but insists that her younger adult half-siblings (from her father’s second marriage after her mother’s and father’s divorce) not be told that they might be at risk for this disorder and that testing is available. How does a practitioner reconcile the obligation to respect the patient’s right to privacy with a desire not to cause her relatives harm by failing to inform them of their risk?
There are many questions to answer in determining whether “a serious threat to another person’s health or safety” exists to justify unauthorized disclosure of risk to a relative.
Clinical Questions
• What is the penetrance of the disorder, and is it age dependent? How serious is the disorder? Can it be debilitating or life-threatening? How variable is the expressivity? Are there interventions that can reduce the risk for disease or prevent it altogether? Is this a condition that will be identified by routine medical care, once it is symptomatic, in time for institution of preventive or therapeutic measures?
• The risk to half-siblings of the patient is either 50% or negligible, depending on which parent passed the mutant allele to the patient. What does the family history reveal, if anything, about the parent in common between the patient and her half-siblings? Is the patient’s mother still alive and available for testing?
Counseling Questions
• Was the patient informed at the time of testing that the results might have implications for other family members? Did she understand in advance that she might be asked to warn her relatives?
• What are the reasons for withholding the information? Are there unresolved issues, such as resentment, feelings of abandonment, or emotional estrangement, that are sources of psychological pain that could be addressed for her own benefit as well as to help the patient clarify her decision making?
• Are the other family members already aware of the possibility of this hereditary disease, and have they made an informed choice not to seek testing themselves? Would the practitioner’s warning be seen as an unwarranted intrusion of psychologically damaging information, or would their risk come as a complete surprise?
Legal and Practical Questions
• Does the practitioner have the information and resources required to contact all the half-siblings without the cooperation of the patient?
• Could the practitioner have reached an understanding, or even a formal agreement, with the patient in advance of testing that she would help in informing her siblings? Would asking for such an agreement be seen as coercive and lead to the patient’s depriving herself of the testing she needs for herself and her children?
• What constitutes adequate discharge of the practitioner’s duty to warn? Is it sufficient to provide a form letter for the patient to show to relatives that discloses the absolute minimal amount of information needed to inform them of a potential risk?
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