Sickle Cell Trait
Conditions
Keywords
electronic health record, pediatric, newborn screen, implementation
Brief 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), 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.
Interventions
BEHAVIORALSCT Documentation and Disclosure Toolkit (SCT-DD)
A toolkit of implementation strategies
Sponsors
Nemours Children's Clinic
Study design
Allocation
RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Outpatient pediatric primary care providers within Nemours and their patients
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Acceptability | At conclusion of study: 18 weeks after initial roll-out of interventions | 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. |
| Self-efficacy | At conclusion of study (18 weeks after initial roll-out of interventions) | 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. |
| Feasibility of Using Toolkit Components | Survey at end of study: 18 weeks after roll-out of interventions | 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). |
| Penetration | 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 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Knowledge | 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. | Knowledge of newborn screen results by caregivers via survey. |
Countries
United States
Participant flow
Recruitment details
Invitations were sent to the physician in charge of 20 pediatric primary care sites within one hospital system in the mid-Atlantic region. Seven (7) sites were interested in participating in the pilot project and randomized to intervention arms. Clinicians and caregivers at each site were then recruited via email. Each group of participants is designated as a separate time period below: Clinicians, Caregivers from the retrospective period, caregivers from the prospective time.
Participants by arm
| Arm | Count |
|---|---|
| All-in In the all-in arm, pediatric primary care physicians receive all toolkit components at once. | 53 |
| Add-in In the add-in arm, pediatric primary care physicians will have sequential addition of toolkit components in 6 week increments | 61 |
| Total | 114 |
Baseline characteristics
| Characteristic | Total | Add-in | All-in |
|---|---|---|---|
| Age, Categorical <=18 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical >=65 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical Between 18 and 65 years | 28 Participants | 12 Participants | 16 Participants |
| Confidence regarding hemoglobinopathies Confidence to discuss hemoglobinopathy results with family | 7.75 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 1.76 | 7.5 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 1.7 | 8.08 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 1.83 |
| Confidence regarding hemoglobinopathies Confidence to discuss inheritance of hemoglobinopathies | 7.75 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.19 | 8.50 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.2 | 7.19 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.07 |
| Confidence regarding hemoglobinopathies Confidence to discuss reproductive options for hemoglobinopathies | 6.00 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.54 | 6.25 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.99 | 5.8 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.21 |
| Confidence regarding hemoglobinopathies Confidence to interpret the hemoglobinopathy newborn screen results | 7.33 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.1 | 7.33 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2 | 7.33 units on a scale (1-10, 10 'extremely') STANDARD_DEVIATION 2.2 |
| Race (NIH/OMB) Caregivers who completed surveys American Indian or Alaska Native | 2 Participants | 1 Participants | 1 Participants |
| Race (NIH/OMB) Caregivers who completed surveys Asian | 3 Participants | 1 Participants | 2 Participants |
| Race (NIH/OMB) Caregivers who completed surveys Black or African American | 35 Participants | 27 Participants | 8 Participants |
| Race (NIH/OMB) Caregivers who completed surveys More than one race | 3 Participants | 1 Participants | 2 Participants |
| Race (NIH/OMB) Caregivers who completed surveys Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Caregivers who completed surveys Unknown or Not Reported | 5 Participants | 2 Participants | 3 Participants |
| Race (NIH/OMB) Caregivers who completed surveys White | 38 Participants | 17 Participants | 21 Participants |
| Race (NIH/OMB) Physicians American Indian or Alaska Native | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Physicians Asian | 4 Participants | 2 Participants | 2 Participants |
| Race (NIH/OMB) Physicians Black or African American | 2 Participants | 2 Participants | 0 Participants |
| Race (NIH/OMB) Physicians More than one race | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Physicians Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Physicians Unknown or Not Reported | 1 Participants | 0 Participants | 1 Participants |
| Race (NIH/OMB) Physicians White | 21 Participants | 8 Participants | 13 Participants |
| Sex: Female, Male Caregivers who completed surveys Female | 85 Participants | 49 Participants | 36 Participants |
| Sex: Female, Male Caregivers who completed surveys Male | 1 Participants | 0 Participants | 1 Participants |
| Sex: Female, Male Physicians Female | 21 Participants | 8 Participants | 13 Participants |
| Sex: Female, Male Physicians Male | 7 Participants | 4 Participants | 3 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 16 | 0 / 12 |
| other Total, other adverse events | 0 / 16 | 0 / 12 |
| serious Total, serious adverse events | 0 / 16 | 0 / 12 |
Outcome results
Primary
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.
Time frame: At conclusion of study: 18 weeks after initial roll-out of interventions
Population: At conclusion of study: 18 weeks after initial roll-out of interventions.
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| All-in | Acceptability | Liked the newborn screen EPIC prompt | 11 Participants |
| All-in | Acceptability | Liked the educational module | 11 Participants |
| All-in | Acceptability | Liked the reference materials | 10 Participants |
| Add-in | Acceptability | Liked the newborn screen EPIC prompt | 8 Participants |
| Add-in | Acceptability | Liked the educational module | 8 Participants |
| Add-in | Acceptability | Liked the reference materials | 5 Participants |
Primary
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).
Time frame: Survey at end of study: 18 weeks after roll-out of interventions
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| All-in | Feasibility of Using Toolkit Components | EHR Prompt | 13 Participants |
| All-in | Feasibility of Using Toolkit Components | Educational video | 12 Participants |
| All-in | Feasibility of Using Toolkit Components | Reference Materials | 11 Participants |
| Add-in | Feasibility of Using Toolkit Components | EHR Prompt | 10 Participants |
| Add-in | Feasibility of Using Toolkit Components | Educational video | 9 Participants |
| Add-in | Feasibility of Using Toolkit Components | Reference Materials | 8 Participants |
Primary
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.
Time frame: 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
Population: Number of newborn patients in the all-in and add-in arms who were seen at sites enrolled in the trial during the retrospective and prospective periods. Chart reviews completed on all patients. Chart review for retrospective patients was done before intervention roll-out. Chart review for prospective patients was done at 2 months of age.
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| All-in | Penetration | Newborn screen available in EPIC - Retrospective | 424 Participants |
| All-in | Penetration | Newborn screen available in Careeverywhere - Retrospective | 167 Participants |
| All-in | Penetration | Sickle cell trait on newborn screen - Retrospective | 9 Participants |
| All-in | Penetration | Sickle cell trait on problem list - Retrospective | 4 Participants |
| All-in | Penetration | Sickle cell trait documented as disclosed - Retrospective | 4 Participants |
| All-in | Penetration | Newborn screen available in EPIC - Prospective | 190 Participants |
| All-in | Penetration | Newborn screen available in Careeverywhere - Prospective | 54 Participants |
| All-in | Penetration | Sickle cell trait on newborn screen - Prospective | 4 Participants |
| All-in | Penetration | Sickle cell trait on problem list - Prospective | 3 Participants |
| All-in | Penetration | Sickle cell trait documented as disclosed - Prospective | 3 Participants |
| Add-in | Penetration | Sickle cell trait on newborn screen - Prospective | 9 Participants |
| Add-in | Penetration | Newborn screen available in EPIC - Retrospective | 303 Participants |
| Add-in | Penetration | Newborn screen available in EPIC - Prospective | 190 Participants |
| Add-in | Penetration | Newborn screen available in Careeverywhere - Retrospective | 179 Participants |
| Add-in | Penetration | Sickle cell trait documented as disclosed - Prospective | 4 Participants |
| Add-in | Penetration | Sickle cell trait on newborn screen - Retrospective | 13 Participants |
| Add-in | Penetration | Newborn screen available in Careeverywhere - Prospective | 70 Participants |
| Add-in | Penetration | Sickle cell trait on problem list - Retrospective | 11 Participants |
| Add-in | Penetration | Sickle cell trait on problem list - Prospective | 9 Participants |
| Add-in | Penetration | Sickle cell trait documented as disclosed - Retrospective | 2 Participants |
Primary
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.
Time frame: At conclusion of study (18 weeks after initial roll-out of interventions)
Population: Based on participants who answered final survey at 18 weeks post intervention
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| All-in | Self-efficacy | Confidence to interpret the hemoglobinopathy newborn screen results | 8.55 units on a scale (1-10) | Standard Deviation 1.37 |
| All-in | Self-efficacy | Confidence to discuss hemoglobinopathy results | 8.27 units on a scale (1-10) | Standard Deviation 1.35 |
| All-in | Self-efficacy | Confidence to discuss inheritance of hemoglobinopathies | 8.73 units on a scale (1-10) | Standard Deviation 1.42 |
| All-in | Self-efficacy | Confidence to discuss reproductive options of hemoglobinopathies | 6.18 units on a scale (1-10) | Standard Deviation 2.48 |
| Add-in | Self-efficacy | Confidence to discuss reproductive options of hemoglobinopathies | 7.0 units on a scale (1-10) | Standard Deviation 2.36 |
| Add-in | Self-efficacy | Confidence to interpret the hemoglobinopathy newborn screen results | 8.20 units on a scale (1-10) | Standard Deviation 1.32 |
| Add-in | Self-efficacy | Confidence to discuss inheritance of hemoglobinopathies | 8.89 units on a scale (1-10) | Standard Deviation 0.92 |
| Add-in | Self-efficacy | Confidence to discuss hemoglobinopathy results | 8.8 units on a scale (1-10) | Standard Deviation 0.78 |
Secondary
Knowledge
Knowledge of newborn screen results by caregivers via survey.
Time frame: 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.
Population: Surveys completed
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| All-in | Knowledge | Survey respondents who reported they received newborn screen results - Retrospective | 14 Participants |
| All-in | Knowledge | Survey respondents who reported they received newborn screen results - Prospective | 6 Participants |
| All-in | Knowledge | Survey respondents who reported sickle cell trait on their child's newborn screen -Retrospective | 0 Participants |
| All-in | Knowledge | Survey respondents who reported sickle cell trait on their child's newborn screen -Prospective | 0 Participants |
| Add-in | Knowledge | Survey respondents who reported sickle cell trait on their child's newborn screen -Prospective | 1 Participants |
| Add-in | Knowledge | Survey respondents who reported they received newborn screen results - Retrospective | 15 Participants |
| Add-in | Knowledge | Survey respondents who reported sickle cell trait on their child's newborn screen -Retrospective | 2 Participants |
| Add-in | Knowledge | Survey respondents who reported they received newborn screen results - Prospective | 18 Participants |