Carrier screening to detect the presence of heritable genetic defects has been an important element of reproductive health strategies for over 50 years. Until recently, however, the practice has been restricted to a limited number of single-gene tests offered mainly to higher-risk individuals or populations based on race, ethnicity, or ancestry. Labs, clinicians, and patients can now look beyond single gene testing with expanded carrier screening (ECS). In this webinar, SMN1 and SMN2 sequencing for spinal muscular atrophy (SMA) is used as a case study for how ECS is changing the landscape of reproductive health.
Presenter:
Adam Harris, PhD Biological Sciences, Stanford University
Adam Harris, PhD Biological Sciences, Stanford University