title: ACMG position statement on prenatal/preconception expanded carrier screening.
abstract: For years, clinicians have offered gene-by-gene carrier screening to patients and couples considering future pregnancy or those with an ongoing pregnancy early in gestation. Examples include ethnic-specific screening offered to Ashkenazi Jewish patients and panethnic screening for cystic fibrosis and spinal muscular atrophy. Next-generation sequencing methods now available permit screening for many more disorders with high fidelity, quick turnaround time, and lower costs. However, instituting these technologies carries with it perils that must be addressed. The basis for the selection of disorders on expanded carrier screening panels should be disclosed. The information provided about disorders with mild phenotypes, variable expression, low penetrance, and/or characterized by an adult onset should be complete and transparent, allowing patients to opt out of receiving these test results. Patients also must be made aware of the concept of residual risk following negative test results. Laboratories have a duty to participate in and facilitate this information transfer.
authors.affiliation: Division of Medical Genetics, UCLA School of Medicine, Los Angeles, California, USA. wgrody@mednet.ucla.edu
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.forename: Barry H
authors.initials: BH
authors.lastname: Thompson
authors.forename: Anthony R
authors.initials: AR
authors.lastname: Gregg
authors.forename: Lora H
authors.initials: LH
authors.lastname: Bean
authors.forename: Kristin G
authors.initials: KG
authors.lastname: Monaghan
authors.forename: Adele
authors.initials: A
authors.lastname: Schneider
authors.forename: Roger V
authors.initials: RV
authors.lastname: Lebo
mesh_terms: D000328:Adult; D005260:Female; D005820:Genetic Testing / Q000941:ethics / Q000592:standards; D006579:Heterozygote; D006801:Humans; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000941:ethics / Q000592:standards