作者: W.-C. Leung , E C M Mariman , J. C van der Wouden , H. van Amerongen , C. Weijer
DOI: 10.1136/BMJ.321.7274.1464
关键词:
摘要: # Results of genetic testing: when confidentiality conflicts with a duty to warn relatives {#article-title-2} When patient is found have an inherited disease it has implications for the whole family. If screening available test usually offered all who could be affected, but what if does not want tell his family about diagnosis? # Case study {#article-title-3} As general practitioner, you referred Andrew, 23 year old man, local psychiatrist gradual onset paranoid ideation. From hospital correspondence, gather detected dysarthria and abnormal involuntary movements asked neurologist's opinion. The neurologist diagnosed Wilson's (hepatolenticular degeneration) Andrew was started on chelation therapy in specialist centre. You know Andrew's background reasonably well as also act practitioner 21 brother, Martin, 20 sister, Alison. Their father died many years ago road traffic accident their mother breast cancer two ago. lived Martin Alison until last year, he moved out live girlfriend, partly due increasing mistrust Alison. As autosomal recessive inheritance, both 1 4 risk having disease. treatable presymptomatic stage, are anxious ensure that receive appropriate counselling testing. However, learn from received such counselling. Indeed, staff at centre whether had any siblings, replied none. Although carefully explained importance receiving early testing, clear anyone inform them recent diagnosis. He seems … Correspondence to: J C van der Wouden.