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Rare Condition Screening Pilot

Some parents-to-be in Australia are taking part in a trial that is offering free genetic testing for about 700 conditions, the Sydney Morning Herald reports.

According to SMH, the pilot phase of the project, called Mackenzie's Mission, is to involve between 20 to 40 couples who are considering having a child or are in early stages of pregnancy. They are to undergo testing for around 1,300 genetic mutations associated with 700 rare autosomal recessive and X-linked genetic conditions, such as spinal muscular atrophy, cystic fibrosis, and fragile X syndrome, it adds. Eventually, the project aims to enroll 10,000 couples.

Edwin Kirk, a University of New South Wales professor and PI of the study, tells SMH that the goal of the project is to show that carrier screening can be widely implemented and eventually offer it for free.

He adds that couples will only be told about a condition if both members have the same mutation, which he says will be about 1 percent of those tested. Those couples can then pursue prenatal testing if they conceive naturally or in vitro fertilization to identify embryos without the mutation, among other options.