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HGC releases report on preconception screening

Report of a story in the news   |   By Dr Sowmiya Moorthie   |   Published 7 April 2011

Source: News release

The Human Genetics Commission (HGC) has published a report and recommendations on preconception genetic screening. Issues that need to be considered prior to the implementation of specific preconception screening programmes as well as conditions that should be met for such programmes to be socially and ethically acceptable are outlined in the report.

The report and recommendations were developed by an expert working group following a request for advice from the UK National Screening Committee (UK NSC). Testing undertaken to inform reproductive decision making as well as management of genetic information acquired from other sources such as routine antenatal tests were considered. The report supports preconception screening programmes and states that “there are no specific social, ethical or legal principles that would make preconception genetic testing within the framework of a population screening programme unacceptable”. The recommendations include making testing available to all those who may benefit from it and offering preconception screening for genetic conditions in situations where it is offered as part of an antenatal screening programme. In addition, they recommended that information should be made available through a variety of sources and that children and young people should be educated about antenatal and preconception screening in the final years of compulsory schooling. The report also stresses that development of such programmes should not detract from the provision of treatment and support of affected individuals.


Preconception genetic testing identifies carriers of genetic mutations responsible for a range of genetic conditions and has the advantage of identifying at-risk individuals at a point when they have the widest range of personal and reproductive choices. Such tests could either be offered to specific groups where there is a high risk of a particular condition or to the general population for a range of conditions. Currently it is only offered to those who are known to be at high risk of being a carrier for a genetic condition or in the form of locally organised screening programmes for conditions such as Tay-Sachs disease, however, access to testing is variable. Population screening programmes can help ensure equity in access to such tests but this requires individuals to engage early with reproductive health services. In addition, as with any other population wide screening programme, the benefits and harms of any preconceptual test will need to be evaluated against the NSC criteria. An important point of note from the report is that there are no ethical reasons not to offer a preconception test if a test for the same condition is already offered antenatally. In fact, given that one of the primary purposes of giving genetic information for reproductive purposes is to enable autonomous choice, there may actually be good ethical reasons to do so.

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