Publications by authors named "Corinne Mallinson"
Objective: Prenatal exome sequencing (pES) for diagnosing fetal structural anomalies commenced in the English National Health Service (NHS) in 2020. We evaluated cost-effectiveness to the healthcare system, and costs to families, of pES in addition to standard testing, compared to standard testing alone.
Design: A cost-effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.
Article Synopsis
- Prenatal exome sequencing (pES) was introduced in England to improve genetic diagnosis in fetuses with structural anomalies, and the study aimed to analyze its outcomes between October 2021 and June 2022, including diagnostic yield and referral rates.
- Out of 475,089 births, the pES referral rate was 8.6 per 10,000, with 59% of referred women undergoing testing; 35% of those received a definitive diagnosis, averaging a turnaround time of 15 days.
- The study found significant variations in outcomes based on diagnostic results, with 40% of women with a definite diagnosis choosing termination of pregnancy, compared to only 18% among those without a diagnosis.
Background: Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted understanding of national LS ascertainment and outcomes, and precluded evaluation of NICE guidance on testing and management. To address this, via collaboration between researchers, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs), and NHS Regional Clinical Genetics Services, a comprehensive registry of LS carriers in England has been established.
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