Jennifer Saucier is a board-certified genetic counselor with expertise in expanded carrier screening, non-invasive prenatal screening and preimplantation genetic testing. She currently serves as the Director of Genetic Counseling Services at Natera where she provides guidance on product development and oversees a team of laboratory genetic counselors. Prior to joining Natera, Ms. Saucier gained invaluable experience in all areas of genetic testing (prenatal, pediatrics, cancer and laboratory) working as the sole genetic counselor at a large rural university hospital and cytogenetics lab. She later joined Genzyme Genetics and specialized in reproductive genetics while counseling patients at several busy maternal fetal medicine offices.
The Evolution Of Genetic Carrier Screening
Before definitive identification of causative genes and associated mutations, carrier screening relied on biochemical techniques, utilizing measurements of enzyme activity and/or substrate levels. As genes and mutations were identified, molecular-based screening became the standard. Advances in molecular technologies, especially next-generation sequencing (NGS), have changed the landscape of carrier screening – providing information about multiple genes, the whole exome, or even the whole genome. The panel will discuss the conditions and genes most appropriate for screening, and whether it is time to screen the whole genome.
Researchers have long been recognizing the uniqueness of women’s health and the substantial effect on clinical practice, acknowledging the increasing appreciation of the importance of multidisciplinary approaches to health and disease. In every organ system, there are diseases that are unique to women, more common in women than in men, or characterized by differences in disease course in women compared with men. This session will include the effect of women’s health on the following topics: