What do I need to know?
Although you may be familiar with ‘genetics’, especially in relation to certain tests, the concept of genomics is less well-understood.
Some types of tests are indeed genetic, because they test for a condition by looking for a variation in a specific gene.
Genomics, however, describes how we interpret and act on information from the whole genome, or any part of it. The National Genomic Test Directory refers to all tests as ‘genomic’ and we will do the same throughout this resource.
Look at the graphic to see the names of some genomic tests you may be familiar with. There’s no need to worry if you don’t recognise them all, and you can find more information here if you want to learn more.
For midwives, genomics represents the coming together of various disciplines and methods to inform management and care for the family. From taking a family history, to referral for specialist advice, to initiating genomic testing – genomics is part of your clinical toolkit, with each part helping to deliver a better continuity of care and increase the chance of successful outcomes.
The genomic touchpoints in the next section will help you to identify where genomics can make a difference during each stage of the pregnancy journey, with handy links out to guidelines, help and support so that you can learn more.
Last updated on 19th August 2025