Pre-conception screening via whole genome sequencing

25 July 2013

The US National Institutes of Health (NIH) has provided more than $8 million to fund a clinical trial of whole genome sequencing for couples to identify potential genetic diseases in future children.

Pre-conception screening is widely offered in the US, though it remains rare in the UK even among populations at increased risk of genetic conditions such as Tay Sachs disease. The new trial is one of those funded by the NIH Clinical Sequencing Exploratory Research programme.
Lead researcher Dr Katrina Goddard of the Kaiser Permanente Center for Health Research said: "We will use whole genome sequencing to help inform couples about their reproductive risks before they conceive. Most of the time couples don't find out that they carry these mutations until after the mother is already pregnant, or until after the child is born".
However, whilst employing new rapid whole genome sequencing, the trial will only identify the presence or absence of around 100 mutations known to cause recessive genetic disorders, as opposed to examining the whole genome for any mutations that might (or might not) be pathogenic. It is hoped that the research will provide new insight into the best way to predict genetic risk pre-conceptually, how couples and families will react to the information provided. The trial is to include 380 couples who request pre-conception genetic testing for a specific condition, half of whom will also receive whole genome sequencing for a larger number of conditions.

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