Testing for More Mutations Could Improve CF Screening

The study, by researchers from Genzyme General (Cambridge, MA, USA), was published in the May 21, 2001, issue of Genetics in Medicine.

The finding comes in the wake of a recommendation by the American College of Medical Genetics (ACMG) that couples planning a pregnancy or seeking prenatal care be offered DNA testing to screen for common mutations in the CF gene. This carrier testing attempts to identify couples who do not manifest the disease but who carry a genetic mutation that may be passed on to their offspring. If both parents carry a genetic mutation associated with cystic fibrosis, there is a 25% chance that each of their children will be born with the disease.

Screening for all 900 mutations in the CF transmembrane regulator that have been identified would not be practical. However, the Genzyme researchers concluded from their study that an expanded DNA test that included the 64 mutations occurring with a frequency of 0.1% or greater would detect more cystic fibrosis carriers than the current 25-mutation test. "This study shows that by expanding the standard CF testing panel modestly to include at least 64 mutations, you an significantly increase detection of CF carriers and still offer a practical, cost-effective test,” said Mara Aspinall, president of Genzyme Genetics, the genetic testing services unit of Genzyme General.




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