TARGET PROJECT 1
Increasing Documentation and Disclosure of Sickle Cell Trait Carrier Status: An Implementation Science Approach
Project Lead: Corinna Schultz, M.D.
Dr. Schultz is an Assistant Professor of Pediatrics at Sidney Kimmel Medical College at Thomas Jefferson University and the Director of Hematology in the Nemours Center for Cancer and Blood Disorders at Nemours/AI duPont Hospital for Children. Dr. Schultz is dedicated to improving the care of children and the systems that support and facilitate that care. Her research focuses on patient-provider communication and family interpretation of complex medical information especially related to sickle cell trait and sickle cell disease. Her previous study of mothers of young children with sickle cell disease highlighted a deficiency in the medical system’s communication with families surrounding the meaning of sickle cell trait results found on newborn screening and the chance of having a child with sickle cell disease. Participants in that study universally wanted others to know their own sickle cell trait status so they had the opportunity to learn about and make informed reproductive decisions. The goals of her COBRE project are the understand the steps necessary to improving the disclosure and retention of sickle cell trait results from the newborn screen within the medical record and within family units. Her long-term goal is to assure accurate and sustained sickle cell trait knowledge throughout an individual’s lifespan in order to identify and appropriately address medical complications of sickle cell trait and to allow for informed reproductive decisions.
Project Summary:
The hemoglobinopathy newborn screen (NBS) performed on all neonates in the U.S. allows for early life-saving medical care for infants with sickle cell disease (SCD). Because of its detection method, the NBS incidentally reveals hemoglobinopathy carrier states including sickle cell trait (SCT). Such findings present a unique ethical challenge: Whether to disclose the newborn’s SCT status and, by default, the SCT status of one parent. In an effort to uphold the rights of the newborn and parent to their medical data (i.e., NBS result, SCT status) and preserve autonomy in medical decision making, pediatric and genetic society guidelines recommend disclosure and documentation of NBS SCT results during infancy. Despite this ethical imperative, a large guideline-to-practice gap exists: SCT is grossly under-documented in the pediatric electronic health record (EHR) and few adults report knowing their SCT status despite universal screening. Failure to disclose SCT obstructs an individual’s ability to make informed reproductive decisions. Additionally, lack of documentation of SCT hampers physicians’ and researchers’ abilities to identify the growing list of medical complications attributed to SCT. We propose to use implementation science methods to close this practice gap for the nearly 3 million individuals with SCT in the US, most of whom are Black or Hispanic. Using mixed method qualitative and quantitative methods we will identify the barriers, facilitators, and implementation strategies necessary to increase: 1) the documentation of SCT within the EHR; 2) disclosure of results to caregivers during infancy; and, 3) discussions about reproduction implications with adolescents with SCT. We will develop and pilot test a SCT Documentation and Disclosure Toolkit for use by primary care physicians during infancy and an SCT Discussion Toolkit for use with adolescents. Accurate documentation and disclosure of NBS results and SCT status is critical to the responsible and ethical care of patients with SCT; will improve health outcomes; and will reduce inequities in care.
Publications:
https://www.ncbi.nlm.nih.gov/myncbi/corinna.schultz.1/bibliography/public/