Clinical experience with multigene carrier panels in the reproductive setting.

Clinical experience with multigene carrier panels in the reproductive setting.

Prenat Diagn. 2018 Apr 23;:

Authors: Terhaar C, Teed N, Allen R, Dohany L, Settler C, Holland C, Longman RE

Abstract
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders.
METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases). All panels utilized targeted genotype analysis of pre-selected mutations via next-generation sequencing (NGS). We calculated positivity rates for each panel.
RESULTS: Positivity rates were 7.2% for PreparentTM Trio, 13.2% for PreparentTM Standard, and 35.8% for PreparentTM Global. The most frequent positive results in the Global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and non-syndromic hearing loss.
CONCLUSIONS: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.

PMID: 29683194 [PubMed - as supplied by publisher]

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