The American College of Medical Genetics and Genomics (ACMG) has updated its technical laboratory standard on CFTR variant gene testing for cystic fibrosis.
The new ACMG document published in Genetics in Medicine includes information on what to test, how to test, and what to report. It includes revised information about cystic fibrosis and the CFTR gene, new testing considerations and methodologies, and updated recommendations for the interpretation and reporting of test results.
The ACMG explained that it wanted to update its guidance now that cystic fibrosis screening and diagnosis are established tests and next-generation sequencing is a well-honed method in many clinical genetics laboratories. The new standard better reflects current laboratory practices, but also allows for future advancements in the field, according to the college.