Confidential inquiries should be funded in clinical genetics

doi:10.1136/bmj.322.7293.1061

BMJ 2001;322:1061 ( 28 April )

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Confidential inquiries should be funded in clinical genetics

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EDITOR $---$ The confidential inquiry into genetic counselling by non-geneticists (CEGEN) investigated free personal choice in consentfor genetic screening, testing, or intervention in clinical recordsof non-directive genetic counselling. It audited 621 pregnanciesaffected by Down's syndrome in women over 34; 271 infants withneural tube defects; 46 infants with cystic fibrosis who had afull sibling with cystic fibrosis; 172 pregnancies affected bythalassaemia; and 212 people with multiple endocrine neoplasiatype II. Adverse events were sought when cases lacked documentationof informedchoice.

Clinical records were unacceptably poor, rarely showing whether genetic counselling had been offered or stating the reasonsfor accepting or rejecting an abortion. Less than half of casesknown in advance to be at high genetic risk were referred to aclinical geneticist. Most couples with undetected thalassaemiawere British Pakistanis; their records assumed that they woulddecline genetic abortion for religious reasons, but over 70% ofBritish Pakistanis . . . [Full text of this article]

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Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry: Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew Darlison, Mary Petrou, John Old, Mark Layton, and Lysandros Varnavides
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