Increasing Documentation and Disclosure of Sickle Cell Trait Status: An Implementation Science Approach

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), an autosomal recessive genetic disorder. Because of its detection method, the NBS incidentally reveals hemoglobinopathy traits including sickle cell trait (SCT). In an effort to uphold the rights of the newborn to their medical data and preserve autonomy in medical decision making, pediatric and genetic society guidelines recommend disclosure and documentation of SCT results during infancy. Despite this guidance, a large guideline-to-practice gap exists: SCT status is grossly under-documented in the pediatric electronic health record and few adults report knowing their SCT status despite universal screening. We plan to evaluate the effect of a toolkit of SCT Documentation and Disclosure (SCT-DD) strategies on documentation and disclosure of SCT by pediatric primary care providers in a 2-arm randomized interrupted time series trial.

Study Overview

• Status: Completed
• Conditions: Sickle Cell Trait
• Intervention / Treatment: Behavioral: SCT Documentation and Disclosure Toolkit (SCT-DD)

• Study Type: Interventional
• Enrollment (Actual): 114
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Delaware
    • Wilmington, Delaware, United States, 19803
      • Nemours Children's Hospital, Delware

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Outpatient pediatric primary care providers within Nemours and their patients

Exclusion Criteria:

• none

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Health Services Research
• Allocation: Randomized
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: "All-in"; In the "all-in" arm, pediatric primary care physicians receive all toolkit components at once.	Behavioral: SCT Documentation and Disclosure Toolkit (SCT-DD); A toolkit of implementation strategies
Active Comparator: "Add-in"; In the "add-in" arm, pediatric primary care physicians will have sequential addition of toolkit components in 6 week increments	Behavioral: SCT Documentation and Disclosure Toolkit (SCT-DD); A toolkit of implementation strategies

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Acceptability	Acceptability of toolkit components by pediatric primary care providers by survey at the end of the study (i.e. 18 weeks after initial roll-out of interventions). Reported as the number who answered Agree or Strongly Agree on a 4-point Likert scale that they liked the toolkit component. Likert scale options included strong disagree, disagree, agree, strongly agree.	At conclusion of study: 18 weeks after initial roll-out of interventions
Self-efficacy	Confidence to document/discuss SCT result by pediatric primary care providers by survey. Scale 1 to 10: 1 = not confident at all, 10 = extremely confident.	At conclusion of study (18 weeks after initial roll-out of interventions)
Feasibility of Using Toolkit Components	Number of pediatric primary care providers who used individual toolkit components in the last 6 weeks of the study (week 12-18) as indicated by answering "yes" to questions about whether individual toolkit components were used on a survey at the end of the study (18 weeks after roll-out of interventions).	Survey at end of study: 18 weeks after roll-out of interventions
Penetration	The number of newborns with newborn screen results visible in the electronic healthcare record and presence of documentation of abnormal newborn screen results. By chart review.	Chart review for retrospective patients was done before intervention roll-out. Chart review for prospective patients was done on a rolling basis at 2 months of age for any newborn patient seen during the 18 week intervention period

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Knowledge	Knowledge of newborn screen results by caregivers via survey.	Survey for retrospective patients was sent before intervention roll-out. Survey for prospective patients were sent on a rolling basis at 2 months of age for any newborn patient seen during the 18 week intervention period.

Collaborators and Investigators

• Sponsor: Nemours Children's Clinic
• Investigators: Principal Investigator: Corinna Schultz, MD, MSHP, Nemours

Study record dates

Study Major Dates

• Study Start (Actual): January 18, 2024
• Primary Completion (Actual): August 31, 2024
• Study Completion (Actual): December 30, 2024

Study Registration Dates

• First Submitted: May 17, 2022
• First Submitted That Met QC Criteria: May 19, 2022
• First Posted (Actual): May 24, 2022

Study Record Updates

• Last Update Posted (Estimated): January 7, 2026
• Last Update Submitted That Met QC Criteria: January 5, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: pediatric; implementation; electronic health record; newborn screen
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Hematologic Diseases; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hemoglobinopathies; Anemia, Sickle Cell; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Sickle Cell Trait
• Other Study ID Numbers: 348506

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No