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Call for Carrier Screening

Australian researchers call for widespread genetic carrier screening, Cosmos reports.

A University of Melbourne-led team of researchers simultaneously screened approximately 12,000 individuals for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. As they reported last week in Genetics in Medicine, the researchers uncovered 610 carriers, most of whom had no family history of disease. They further noted that 32 of the couples in the study were pregnant at the time and of the 26 who underwent prenatal genetic diagnosis, seven had affected pregnancies.

In the paper, Melbourne's David Amor and his colleagues say that this comes out to be about 1 in 20 people being a carrier for at least one of these conditions and that 1 in 240 couples were at high risk of having an affected child. They add that their findings highlight that even though carriers of the individual conditions are relatively rare, that together the population risk is about the same as that of Down syndrome.

"It's important that all carriers are given the option of genetic counseling so they can discuss the implications of their results with an expert," first author Alison Archibald from the Victorian Clinical Genetics Services adds at Cosmos.