The changing landscape of carrier screening: expanding technology and options?.

摘要: Carrier screening (CS) is a mechanism by which women and their partners can learn about risks of having child affected recessive genetic disorder.5 A carrier healthy individual who not disease but nevertheless has one copy mutation.6 Couples in both individuals have the same mutation are at increased risk inherits disorder.7 Theoretically, identification education regarding inheritance mutations serve as form “genotypic prevention” enabling couples to prevent generational transmission specific disorders.8 CS typically takes place context reproductive healthcare,9 where results may be used inform prospective parents options family planning prenatal diagnosis.10 CS recommended on basis history condition for populations that higher incidences conditions such Ashkenazi Jewish population.11 Some medical professional societies shifting away from targeting based ethnicity toward population-based all considering pregnancy or already pregnant,12 specifically screen status cystic fibrosis (CF)9 spinal muscular atrophy (SMA).14 In last few years, panels15 expanded evaluate large numbers associated with range autosomal X-chromosome-linked inherited including CF, SMA, Tay-Sachs Disease, sickle cell anemia Fragile X syndrome.16 Several commercial laboratories developed these panels market them healthcare providers.17Despite changing technological landscape United States, little known clinical societal implications expanding efforts include detect much larger disorders. To this end, we report study professionals expertise genetics attitudes applications (ECS). primary aim paper describe professionals’ perceptions benefits challenges CS. secondary situate perspectives within broader debates appropriate integration new assessment technologies into care. The following discussion demonstrate how approaches resemble diverge previous surveillance ways likely impact practice pregnant women’s choices perceived responsibilities.