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Last Posted: May 25, 2023
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Barriers to Completion of Expanded Carrier Screening in an Inner City Population.
Tirtza S Strauss et al. Genet Med 100858

At our academic center, publicly insured prenatal patients underwent universal Expanded Carrier Screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete ECS. The study highlights significant barriers to completion. There was suboptimal patient follow up and low partner screening, perhaps from insufficient time to educate and counsel.

Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
D Schofield et al, Genetics in Medicine, February 12, 2023

Expanded RCS was cost-saving compared with no population screening and cost-effective compared to the three-condition screening (ICER of $6,287 per QALY gained) at an uptake rate of 50% for RCS, 59% for IVF and preimplantation genetic testing, 90% for prenatal diagnosis testing and 50% for elective termination of affected pregnancies and a cost of A$595 per couple screened.

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12

The purpose of this study was to evaluate the clinical performance of carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy with reflex single-gene noninvasive prenatal screening (sgNIPS), which does not require paternal carrier screening. An unselected sample of 9151 pregnant individuals from the general US pregnant population was screened for carrier status. Overall, 98.7% of pregnant individuals received an informative result (no-call rate = 1.3%), either a negative carrier report or, if identified as heterozygous for a pathogenic variant, a reflex sgNIPS report.

Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System
LE Hull et al, JAMA Network Open, November 8, 2022

Are site of care, clinician, and patient-specific factors associated with differences in whether reproductive genetic carrier screening was ordered prior to vs during pregnancy across a health care system? This cross-sectional study of 6509 patients who completed carrier screening ordered across the Mass General Brigham integrated health care system in Boston, Massachusetts, including 4 hospitals, 32 clinical sites, and 161 ordering clinicians, from October 1, 2018, through September 30, 2019, found that most (63%) had prenatal screening. Clinician specialty was associated with the greatest variation in timing among observed characteristics.

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