Abstract
Editorial summaryNext-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues.
Highlights
Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests
This type of directed carrier testing is relatively straightforward because there is a known history of the disorder and because the causative mutation has often been identified in the proband
It is generally accepted that the following five criteria should be met in order for a screening program to be successful: first, the disorder is clinically severe; second, there is a high frequency of carriers in the screened population; third, a reliable test with a high specificity and sensitivity that is relatively inexpensive is available; fourth, prenatal diagnosis is available; fifth, there is access to genetic counseling
Summary
Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. In the molecular diagnostic laboratory, carrier testing is often performed on individuals with a known family history of disease. This type of directed carrier testing is relatively straightforward because there is a known history of the disorder and because the causative mutation has often been identified in the proband.
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