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The use of expanded carrier screening in reproductive medicine

This Scientific Impact Paper discusses the current context of use of expanded carrier screening (ECS), as well as the clinical and technical considerations of performing ECS and the ethics to be considered.

Plain-language summary

Expanded carrier screening (ECS) is a genetic screening test carried out by analysing a blood sample. This screen can be used to detect whether the individual unknowingly carries gene variants associated with common genetic conditions, such as cystic fibrosis, that may be passed on to their children. It is typically performed in reproductive medicine for those who are considering having a family either naturally or via fertility treatment. Many donor sperm and egg banks, particularly in the USA and Europe, also perform blanket ECS testing on all their prospective sperm and egg donors. ECS is not currently routine practice, but a growing number of patients are requesting it before treatment.

All of us carry gene variants of some sort that may cause autosomal recessive disease in their children if their partner or donor also carry a variant in the same gene. An autosomal recessive disease means two copies of an abnormal gene must be present in order for the disease or trait (such as cystic fibrosis or sickle cell disease) to develop. One copy of the variant means the person is a carrier but does not have the condition. Two copies, i.e. from the mother and father, means the child has a 25% chance of having the genetic disease. Carrying a gene variant does not mean that the individual would necessarily have any symptoms of the disease or any features of the condition.

Genetic tests for specific conditions are currently available either before or during pregnancy for prospective parents who have a family or personal history of a genetic condition, or for those from ethnic backgrounds where certain conditions – such as haemoglobinopathies (blood disorders) - are common, prompting referral to a clinical genetics department.

Expanded carrier screens may test for more than 100 genetic conditions. The list of conditions screened for is called a panel. Common panels are 250 or 600 genes. Not all expanded carrier tests that are available analyse the same genes. Some may test for genes that do not cause serious disease, or cause diseases that occur in later life; others test for genes that cause severe conditions in childhood. There is no agreement as to which panel of genes should be tested for in an ECS.

Understanding the test that is being offered, and the meaning of any results, is complicated and requires support from appropriately trained professionals to best inform the prospective parent or parents.

COVID disclaimer: This Scientific Impact Paper was developed prior to the emergence of the COVID-19 coronavirus.

Version history: This is the first edition of this paper.

Please note that the Scientific Advisory Committee regularly assesses the need to update this information.

Further information on this review is available on request.

Developer declaration of interests: Available upon request.

Published: 06 June 2024