Health, Wellness & Fitness - , ,
Our mission is to promote and enhance access to the availability of expanded carrier screening (ECS) through: 1) building relationships and providing education on the utility of ECS testing; 2) facilitating communication and information sharing; 3) and collaborating with stakeholders to ensure coverage of ECS. Carrier screening is a test that analyzes a patient's DNA to see if they are a carrier of a genetic variant (or change) that could cause an inherited disease in their children. Medical experts, such as the American College of Obstetricians and Gynecologists (ACOG), recommend that carrier screening be offered to all women who are pregnant or planning for pregnancy. Thanks to new technological advances, it is now possible to efficiently and accurately test for hundreds of gene variants and disorders simultaneously using ECS.ECS is designed to give patients a comprehensive and accurate understanding of their risk of passing on a genetic condition to their child. With a simple blood or saliva test, patients can be screened for hundreds of inherited diseases that could affect their children. ECS plays an important role in family planning and is ideally performed before a patient gets pregnant. This gives the most reproductive options if a patient tests positive as a carrier for a genetic condition. If a patient or their partner is already pregnant, carrier screening is still important to help them – and their healthcare provider – better understand their reproductive risk and prepare for a healthier future for their family.In short, ECS improves outcomes and quality of life while reducing costs by enabling parents, clinicians, and insurers to appropriately plan treatment needs and avoid lengthy (and costly) diagnostic exploration after birth.
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