ARTICLE IN PRESSGenetics in Medicine(2023)■，100867GeneticsMedicineAn Official Journal of the ACMGELSEVIERwww.journals.elsevier.com/genetics-in-medicineACMG STATEMENTUpdated recommendations for CFTR carrier screening:A position statement of the American College ofMedical Genetics and Genomics (ACMG)Joshua L.Deignan',Anthony R.Gregg2,Wayne W.Grody,Michael H.GuoHutton Kearney,Kristin G.Monaghan,Karen S.Raraigh',Jennifer Taylor,Cinthya J.Zepeda-Mendoza,Catherine Ziats10;on behalf of the ACMG Board of Directors3.*Disclaimer:This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide qualitymedical services.Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome.This statementshould not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toobtaining the same results.In determining the propriety of any specific procedure or test,clinicians should apply their own professional judgment tothe specific clinical circumstances presented by the individual patient or specimenClinicians are encouraged to document the reasons for the use of a particular procedure or test,whether or not it is in conformance with this statement.Clinicians also are advised to take notice of the date this statement was adopted,and to consider other medical and scientific information that becomesavailable after that date.It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests andother procedures.Where individual authors are listed,the views expressed may not reflect those of authors'employers or affiliated institutions.Requests for permissions must be directed to the American College of Medical Genetics and Genomics,as rights holder.ARTICLE INFOIntroductionArticle history:Pathogenic variants in the CFTR gene are causative of cysticReceived 30 March 2023Received in revised formfibrosis (CF)as well as CF-related disorders,such as iso-20Apil2023lated congenital bilateral absence of the vas deferensAccepted 24 April 2023(CBAVD).In 2001,several professional organizationsAvailable online xxxxjoined in acknowledging the importance and technologicadvances that would make CF amenable to population-Keywords:based camrier screening.However,the technology andCFTRknowledge had not advanced far enough to allow for anCystic fibrosisequitable application.Variant databases were far lessPancreatitisadvanced when compared with those that are easily andScreeningwidely accessible today.Sequencing technology was alsoVariantearly in development.This limited screening to small sets ofvariants that were most commonly characterized in Ashke-nazi Jewish and Northern European populations using tar-geted,allele-specific testing approaches rather than DNAsequencing.For this reason,recommendations at that timewere that screening should be "offered
