(SAN DIEGO, Dec. 7, 2024) – SCD is the most common inherited blood disorder in the United States, affecting an estimated 100,000 people and one out of every 365 Black or African American births. The ASH RC’s Data Hub SCD program includes electronic health record (EHR) data from more than 24,000 unique individuals living with SCD, with 56 academic medical centers enrolled and 20 sites currently submitting data. At the time of analysis, over 9,400 individuals had a confirmed SCD diagnosis verified by site investigators.SCD is the most common inherited blood disorder in the United States, affecting an estimated 100,000 people and one out of every 365 Black or African American births. The ASH RC’s Data Hub SCD program includes electronic health record (EHR) data from more than 24,000 unique individuals living with SCD, with 56 academic medical centers enrolled and 20 sites currently submitting data. At the time of analysis, over 9,400 individuals had a confirmed SCD diagnosis verified by site investigators.

Alexis Thompson, MD, MPH and researchers conducted an analysis of the Data Hub’s SCD Program to understand the demographics of the cohort and validate the data through accurate identification of SCD diagnosis type through independent examination.

The researchers found that the geographic distribution of sites included in the Data Hub aligned with the national distribution of the SCD population in the U.S. Sites included in the Data Hub were 95% urban and 5% rural and designated as pediatric (45%), adult (40%), or combined (15%). The median patient age was 23 years, and 55.4% were female.

In the Data Validation Pilot Project, researchers reviewed the data of 243 patients at 10 sites with a confirmed SCD genotype diagnosis. They manually identified the SCD diagnosis from the records and compared it to the investigator-verified diagnosis by reviewing hemoglobin levels and presence, DNA testing, patient registry information, newborn screening results, and other clinical documentation.

Of the 243 cases, researchers accurately identified the diagnosis of 233 (96%) patients. There were 9 cases where the identified SCD diagnosis differed from the investigator-verified diagnosis. This discrepancy was often found among patients with a less common SCD type, such as HbSß thalassemia, which the investigator-verified diagnosis typically identified as HbSS.

The high concordance between researcher-identified diagnoses and investigator-confirmed diagnoses increases confidence in the validity of both existing and future SCD data in the Data Hub. This data can be leveraged to conduct observational studies and inform the design and feasibility of potential interventional studies to generate real-world data.
In future studies, the researchers hope to understand if automated and manually reviewed data elements align with investigator-confirmed diagnosis among this subset, the larger investigator-verified cohort, and the SCD data in the Data Hub.

Read more about the research:

2313: High Concordance between Investigator-Verified Diagnosis and Manual Data Abstraction for Sickle Cell Diagnosis Type: An ASH Research Collaborative Data Hub Validation Study

About the ASH Research Collaborative

The ASH Research Collaborative (ASH RC) is a non-profit organization established by the American Society of Hematology (ASH)  to improve the lives of people affected by blood diseases by fostering collaborative partnerships to accelerate research and improve outcomes for individuals with hematologic diseases by advancing treatment developments and generating evidence to support clinical decisions and care.

Contact

Melissa McGue, American Society of Hematology
mmcgue@hematology.org
202-552-4927