PP216 – The Clinical Utility and Cost Effectiveness of Expanded Carrier Screening and its Role in Population Health Management
Genetic screening plays a very important role in preventive medicine and population health management. By identifying the risk of genetic disease, patients and their providers can make informed decisions that result in both positive clinical and financial outcomes. Expanded carrier screening (ECS) for childhood genetic conditions is now considered an acceptable practice by the American College of Obstetricians and Gynecologists and is used to provide couples with information to optimize outcomes based on their personal values and preferences. Knowledge of carrier status allows patients to decide whether to conceive naturally or use advanced technologies such as preimplantation genetic testing or donor gametes; and also allows patients to plan for prenatal diagnostic testing pregnancy management options, or postnatal management.
Recent studies have demonstrated the clinical utility of ECS: couples identified as being at risk for a child affected with a severe condition used screening results to inform family planning decisions. ECS allows for the identification of more pregnancies affected with serious conditions across ethnicities compared to guidelines-based screening alone. A 2018 study published in Clinical Chemistry showed that 1 in 300 pregnancies in the United States would be affected by 1 of 176 genetic disorders included on an expanded carrier screen. By comparison, this risk is higher than the incidence of routinely screened conditions such as Down syndrome (1 in 700). While the clinical value of ECS has been proven, the health care economics of ECS remains poorly understood.