Education And Debate Ethical debate

Results of genetic testing: when confidentiality conflicts with a duty to warn relativesCase studyAct to resolve conflictView from Dutch general practiceFamily duty is more important than rights

BMJ 2000; 321 doi: https://doi.org/10.1136/bmj.321.7274.1464 (Published 09 December 2000) Cite this as: BMJ 2000;321:1464

Results of genetic testing: when confidentiality conflicts with a duty to warn relatives

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 family about his diagnosis?

Case study

  1. Wai-Ching Leung, senior registrar in public health medicine (Wai_chingleung@hotmail.com)
  1. Epidemiology and Public Health, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE
  2. Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, Netherlands
  3. Department of General Practice, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, Netherlands
  4. Dalhousie University, Halifax, Canada B3H 4H7

    As his general practitioner, you referred Andrew, a 23 year old man, to the local psychiatrist with gradual onset of paranoid ideation. From the hospital correspondence, you gather 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 was started on chelation therapy in a specialist centre.

    You know Andrew's background reasonably well as you also act as 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 road traffic accident and their mother died of breast cancer two years ago. Andrew lived with Martin and Alison until last year, when he moved out to live with his girlfriend, partly due to his increasing mistrust of Martin and Alison.

    As Wilson's disease is autosomal recessive in inheritance, 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 counselling and testing. However, you learn from Andrew that Martin and Alison have not received such counselling. Indeed, when the staff at the specialist centre asked Andrew whether he had any siblings, he replied that he had none. Although you carefully explained to Andrew the importance of Martin and Alison receiving early counselling and testing, Andrew is clear that he does not want anyone to inform them about his recent diagnosis. He seems …

    Correspondence to: J C van der Wouden.

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