Confusion over results obtained through a national screening programme for cystic fibrosis (CF) in the US may have lead to some women having unnecessary prenatal tests, according to a report in New Scientist. At a recent conference, the American College of Medical Genetics (ACMG) warned delegates that some genetic tests have been carried out on fetuses that were not at risk of inheriting the condition, and that a number of pregnancies had been terminated.
A CF antenatal screening programme has been running in the US since October 2001, in which pregnant women and their partners are offered a genetic test for the condition. Since the disease only arises in people who inherit two mutated versions of the CF gene, pregnancy tests are only offered if both parents are found to carry a mutation. Around 900 different CF mutations have been identified since the gene was discovered in 1989. One of these, called 5T, can only be involved in CF if it occurs in the same copy of the gene as another mutation, R2117H. But according to the ACMG, 'over 20 prenatal tests were performed with 5T alone and with terminations occurring'. 'The volume of tests has exploded, and front-line service providers are having some difficulty with the hard mutations that are difficult to interpret' said Michael Watson, executive director of the ACMG.
Scientists at genetic testing firm Quest Diagnostics also reported that of the 150 fetal test requests it has received since the programme began, 41 were submitted after one parent was found to have only a 5T mutation. According to Charles Strom, the company's medical director, none of the tests lead to a termination, but added that the confusion over 5T results was probably 'going on throughout the industry'. Kathy Hudson, director of the Genetics and Public Policy Centre in Washington DC, thinks that more regulation of genetic tests is needed, both in the US and in many other countries. She claims that 'there is more government oversight of the colouring used in M&Ms [a type of sweet] than there is for genetic tests'.
Sources and References
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