Intended for healthcare professionals


Preconception genetic testing should be more widely available, says UK commission

BMJ 2011; 342 doi: (Published 08 April 2011) Cite this as: BMJ 2011;342:d2324
  1. Susan Mayor
  1. 1London

Preconception genetic testing for mutations that can cause genetic conditions should be made available in screening programmes to people who may benefit, the UK government’s advisory body on human genetics recommended in a report published on 6 April.

The Human Genetics Commission initiated the report in response to a request from the UK National Screening Committee for guidance on the social, ethical, and legal implications of making preconception genetic screening available across a whole population.

The two groups set up a collaborative expert working group, including representatives from the NHS sickle cell and thalassaemia screening programme and the PHG Foundation (Foundation for Genomics and Population Health), to review the issue.

“Having considered the issues associated with preconception genetic testing, in …

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