This site is intended for health professionals only

Genetic MOT to detect diseases

2 July 2009

Share this article

Trials of a “genetic MOT” that has the potential to identify inherited genetic diseases in babies are to start in the UK in the next few months.

Karyomapping could be used to help IVF couples screen embryos for hereditary diseases and chromosomal problems that might lead to Down’s syndrome.

While the tests could help families have healthy babies, they are likely to face criticism as they could be used to screen out non-serious conditions or help couples have “designer babies” with specific traits such as blue eyes.

The technique does not require the costly and time-consuming pinpointing of individual genetic mutations, and instead doctors target the location of abnormalities in a family’s genetic code.

DNA of parents or siblings is tested, highlighting 300,000 “marker” points to screen against the embryo. The DNA can then be used to identify a particular condition through a family.

If the embryo is found to have the same inherited defect a decision can be taken whether to implant it into a patient’s womb or not.

The trials come after the first child in Britain was born free from the breast cancer gene thanks to doctors using a technique called pre-implantation genetic diagnosis.

Copyright © Press Association 2009

British Fertility Society