30% of hereditary diseases could be prevented by genetic testing

30% of hereditary diseases could be prevented by genetic testing

A group of research scientists from the Genomics Unit of Women's Health Dexeus, led by Dr. Anna Abulí and Dr. Xavier Estivill, conducted a comprehensive study on a sample of 1,301 individuals to identify whether they carried recessive genetic mutations which could foster the transmission of hereditary diseases to offspring. These kinds of diseases are expressed only when both parents carry a given genetic mutation so that the offspring receives two copies of the same mutated gene. However, the likelihood of transmission is 25%. Thus, since many people may be carriers of these mutations without expressing the disease, it may go undetected in a couple's personal or family medical history

This prompted Dexeus Women’s Health to join forces with qGenomics in order to develop a specific test called qCarrier, to detect genetic alterations in 200 genes associated with more than 300 hereditary diseases, and which the researchers used in their study in order to identify possible carriers. The study population which totalled 1,301 individuals included 483 oocyte donors, 635 male partners of donor egg recipients, 105 women undergoing assisted reproduction techniques with donor sperm, and 39 couples who had previously undergone preconception genetic testing.

Results showed that 56% of the 1,301 test subjects were carriers of at least one recessive gene mutation associated with the development of a hereditary disease, and 1.7% of oocyte donors were excluded from the egg donation program because they were carriers of an X-linked disorder.

The authors of this study suggest offering systematic genetic screening tests for recessive mutations in the context of gamete (egg and sperm) donation programmes, to donors and to any person and/or partner planning to have children (with or without fertility problems) in order to inform them of the possible risks and decide which reproductive option to choose in order to prevent genetic diseases.

The study is available in the online edition of Human Mutation. Human Mutation.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.
Original article

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