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West J Med. 2001 May; 174(5): 340–341.
PMCID: PMC1071393
Topics in Review
Results of genetic testing
when confidentiality conflicts with the duty to warn relatives
Wai-Ching Leung, Senior registrar in public health medicine1
1 Epidemiology and Public Health Newcastle General Hospital Newcastle upon Tyne NE4 6BE UK
wai_chingleung/at/hotmail.com
 
When a patient is found to have an inherited disease, it has implications for the whole family. If screening is available, the test is usually offered to all relatives who could be affected, but what if the patient does not want to tell his or her family about this diagnosis?

As his general practitioner, you referred Andrew, a 23-year-old man, to the local psychiatrist because of gradual onset of paranoid ideation. From the hospital correspondence, you gather that the psychiatrist detected dysarthria and abnormal involuntary movements and asked for a neurologist's opinion. The neurologist diagnosed Wilson's disease (hepatolenticular degeneration), and Andrew began chelation therapy under the care of a specialist.

You know Andrew's background reasonably well because you are the general practitioner for his 21-year-old brother, Martin, and his 20-year-old sister, Alison. Their father died many years ago in a traffic accident, and their mother died of breast cancer 2 years ago. Andrew lived with Martin and Alison until last year when he moved out to live with his girlfriend, in part because of his increasing mistrust of Martin and Alison.

Because the inheritance of Wilson's disease is autosomal recessive, both Martin and Alison have a 1-in-4 risk of having the disease. The disease is treatable in the presymptomatic stage, and you are anxious to ensure that Martin and Alison receive appropriate counseling and testing. You learn from Andrew, however, that Martin and Alison have not received such counseling. Indeed, when the staff at the specialty clinic asked Andrew whether he had any siblings, he replied that he had none. Although you explain to Andrew the importance of Martin and Alison receiving early counseling and testing, Andrew is clear that he does not want anyone to inform them about his diagnosis. He seems to understand the potential consequences of his refusal to inform Martin and Alison.

Under these circumstances, you have 3 options: to inform Martin and Alison about Andrew's recent diagnosis and refer them for appropriate counseling and testing; to take a blood specimen from Martin and Alison to test the serum ferroxidase activity (a screening test for Wilson's disease) without informing them of the reason; or to take no action.

CONFIDENTIALITY

As Andrew's general practitioner, you owe him a duty of confidentiality. This duty is required both by law and by the General Medical Council.1 This duty is not absolute, however, and you may be justified in breaching confidence if wider public interest outweighs both the private and public interests of keeping patients' secrets. Prevention of crime or serious harm to others might constitute such wider public interests; there must be a real and serious risk that others may suffer serious harm and no other means of preventing this risk. For example, breach of confidence may be justified if this is the only method of preventing the ill-informed decision to release a dangerous psychiatric patient from a secure unit.2

The risk of at least 1 of Andrew's siblings having Wilson's disease is high (7-in-16 chance). Andrew's refusal to share the knowledge of his diagnosis, however, merely prevents Martin and Alison from benefiting from possible early diagnosis and treatment and does not pose any direct risks to them. A survey in the United States showed that more than 56% of women felt that written consent should be required for a spouse or immediate family to receive information on genes that increase susceptibility to breast cancer.3 Therefore, breach of confidence does not seem justified on the grounds of wider public interests.

INFORMED CONSENT

Failure to obtain informed consent to screening tests is both negligent4 and unethical5 and may lead to disciplinary action.6 Although Wilson's disease is treatable, it is a serious condition, and Martin and Alison should be made fully aware of both the benefits and the harms before the screening test is conducted. Therefore, it would be highly inappropriate to obtain a serum specimen to screen them for disease without adequate counseling.

BENEFICENCE AND LEGAL DUTY TO WARN

All physicians have a moral duty of beneficence (doing good).7 Because you are Martin's and Alison's general practitioner and know of their genetic predisposition to Wilson's disease, you have a duty to ensure that they are warned about their risks and the potential consequences of late diagnosis. No physician would feel comfortable taking no action; however, it is not possible to warn Martin and Alison without breaching Andrew's confidentiality.

You also have a legal duty to warn Martin and Alison and arrange counseling and testing. Your duty of confidentiality to Andrew does not necessarily absolve you from the duty to warn Martin and Alison.

As the general practitioner for the 3 siblings, you are in both a legal and an ethical dilemma in balancing your duty of confidentiality to Andrew and your duties to Martin and Alison to be beneficent, to provide informed consent, and to warn.

Notes
Competing interests: None declared
This article and the commentaries that follow were published in BMJ 2001;321:1464-1466. We present them in wjm, as companions to the articles by Meiser and Dunn (p 336) and Pagon and colleagues (p 344).
References
1.
General Medical Council. Duties of a Doctor. London: GMC; 1997.
2.
W v Egdell [1990] 1 All ER 855.
3.
Benkendorf JL, Reutenauer JE, Hughs CA, et al. Patients' attitude about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility. Am J Med Genet 1997;73: 296-303. [PubMed].
4.
Sidaway v Bethlem RHG [1985] 1 All ER 643.
5.
Austoker J. Gaining informed consent for screening. BMJ 1999;319: 722-723. [PubMed].
6.
General Medical Council. Seeking Patients' Consent: The Ethical Considerations. London: GMC; 1999.
7.
Gillett G. Ethical debate: practical ethics. BMJ 1995;311: 118.