HGC releases report on preconception screening

7 April 2011

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.