Advances in DNA sequencing technology have dramatically enhanced our ability to perform more comprehensive genetic risk assessments. Carrier screening protocols for the detection of serious and prevalent inheritable disorders have seen significant evidence-based advances but have experienced slow adoption, limited primarily by education of pregnant women and providers.
Population demographics and variability in population ethnicity have redefined a couple’s risk for many inheritable autosomal recessive disorders. Advances like next-generation sequencing and sophisticated bioinformatics pipelines have provided insight into carrier frequencies in more diverse populations and identified the gaps that are created by current guidelines.
This webinar is the first in a three part series that will present cases that highlight the benefits of expanded carrier screening research for less well known inheritable conditions.
Join Dr. Brown in this webinar to learn about:
- The evolution of expanded carrier screening
- Current guidelines and their role
- Cases highlighting the power of expanded carrier screening