TABLE 1.
A framework for defining and assessing the goals of newborn screening, by screened condition. Here, sickle cell disease is used as an example, with potential goals and measures populating the table. Data sources may vary by condition.
| CATEGORICAL UNIVERSAL AIM (All Conditions) | CONDITION SPECIFIC GOAL (SCD as an example) | POTENTIAL MEASURE (SCD as an example) | POTENTIAL DATA SOURCES (SCD as an example) | KEY ATTRIBUTE (SCD as an example) |
|---|---|---|---|---|
| Rapid and Reliable Detection and Diagnosis | ||||
| Condition detected by NBS | Universal detection | #/of HbSS, HbSC, HbS-beta thalassemia detected at birth | State NBS programs, RuSH | Universal screening performed |
| Condition confirmed and diagnosed | Prompt confirmation with definitive diagnosis | % infants with confirmed diagnoses before 2 months of age - Condition sub-type confirmed (e.g., HbSS, HbSC, other variants) |
State NBS programs, RuSH | Diagnosis through universal screening |
| Provision of Evidence-based Care | ||||
| Prevention of major disease-related mortality and morbidities | Prevention of disease-related mortality | Number and age of childhood deaths | State mortality data, RuSH | Evidence-based treatment |
| - Early initiation of PCN prophylaxis - Continuous prescription of PCN prophylaxis |
▪ #/% infants prescribed PCN by 3 months of age▪ #/% children younger than age 5 continuously prescribed PCN | NBS programs, RuSH HRSA-supported surveys |
Evidence-based treatment | |
| Appropriate immunizations related to loss of splenic function | ▪ #/% children completing pneumococcal immunizations by age 3 ▪ #/% children completing meningococcal immunizations by certain age ▪ #/% children ages 1–21 receiving annual immunization for influenza ▪ #/% children with significant pneumococcal infection |
State and local vaccine databases, RuSH, HRSA-supported surveys Medical claims database |
Evidence-based treatment | |
| ▪ Prevention of stroke ▪ Prevention of acute and chronic disease- related pulmonary disease |
▪ #/% children with strokes ▪ #/% children with acute chest syndrome, pulmonary hypertension, chronic hypoxemia or other |
Medical claims database Clinical database |
Evidence-based treatment | |
| ▪ Stroke risk initial assessment ▪ Stroke risk annual assessment |
▪ #/% children at age 2 who have had TCD | RuSH HRSA-supported surveys |
Evidence-based treatment | |
| ▪ Pulmonary initial assessment ▪ Pulmonary annual assessment |
▪ #/% children age X and older who have had annual TCD ▪ #/% children at age 5 who have had PFTs, O2 saturation ▪ #/% children age X and older who have had annual PFTs, O2 saturation |
Medical claims database | ||
| Prevention of iron overload | #/% children on chronic transfusion therapy assessed for iron burden annually | Medical claims database Clinical database |
||
| - Initiation of disease modifying therapy* (hydroxyurea, chronic transfusion, transplant) - Continuation of disease modifying Rx* |
- #/% children age 2 currently on a disease-modifying therapy - #/% children age 10 currently on a disease- modifying therapy |
RuSH HRSA-supported surveys; Insurance database, patient registries (consumer-driven, medical care and private sector) |
Evidence-based treatment | |
| Use of disease modifying therapies* (hydroxyurea, chronic transfusion, transplant) when transitioning to adolescent and adult care | % children at age 16 on disease-modifying therapy | RuSH HRSA-supported surveys Insurance database, registries (see above) |
Evidence-based treatment | |
| Growth and development | Growth | Weight, BMI: - 1-year-olds - 5-year-olds |
NBS program follow-up Clinical database |
Evidence-based treatment |
| Educational/functional performance (Grade level for age, employment status) | ▪ Grade level X at age X ▪ High school diploma or GED by age 25* - #/% employed or in school (5 year assessments) |
Public health Department of Education databases | Evidence-based treatment | |
| Coordination and Integration of Services | ||||
| Patient-centered engagement and satisfaction | Family experiences family-centered care | ▪ Rating of experience of care; - Rating of involvement in decision making #/% of patients with care plan incorporating patient/family goals |
HRSA-NICHQ Surveys CAHPS RuSH |
Care coordination through medical home |
| Primary care provider | Primary care provider informed by state | #/% diagnosed infants with a primary care provider identified by age 1 month - At least 1 visit documented by age 2 months |
NBS programs, HRSA-supported surveys | Care coordination through medical home |
| Regular primary care | #/% infants receiving regular care by primary care provider during the 1st year of life | Medical claims database Vaccine database |
Care coordination through medical home | |
| Specialty care provider | Specialist informed by state | #/% diagnosed infants with specialty medical care identified by age 1 month - At least 1 specialist visit documented by age 3 months |
NBS programs, HRSA-supported surveys | Care coordination through medical home |
| Regular specialty care | #/% infants receiving care by specialty provider during the 1st year of life | Medical claims database | Care coordination through medical home | |
| Genetic services | Counseling and SC gene assessment for hemoglobinopathies provided by genetic or hemoglobinopathy counselor | #/% families receiving genetic counseling by a certified counselor | HRSA-supported surveys | Care coordination through medical home |
| Trait assessment and counseling for parents* | #/% of families identified with one or more children with SC trait in which parents know their trait status | RuSH HRSA-supported surveys |
Care coordination through medical home | |
| Genetic services for the population of at- risk adolescents | #/% of adolescents in the community who know their trait status and have received anticipatory care | HRSA-supported surveys | Care coordination through medical home | |
| Other Community Resources | Family put in contact with necessary community resources | #/% families receiving information about community resources | HRSA-supported surveys | Care coordination through medical home |
| Continuous Improvement of Care, Discovery and Innovation | ||||
| Patients enrolled in registries | #/% of patients enrolled in condition registries | To be determined | New knowledge discovery | |
| Patients enrolled in clinical studies or trials | #/% of patients enrolled in clinical studies or trials | To be determined | New knowledge discovery | |
| Demonstrated improvements in care | # critical care processes with statistically meaningful improvements in past 12 months | Clinical records | Continuous improvement | |
| Demonstrated improvements in outcomes | # outcomes showing statistically meaningful improvements in past 24 months | Clinical, educational and public health records | Continuous improvement | |
*
Health People 2020 Goal (http://www.healthypeople.gov/2020/topicsobjectives2020/objectiveslist.aspx?topicid=4)
Abbreviations:
BMI: Body Mass Index
CAHPS: Consumer Assessment of Healthcare Providers and Systems
DHPR: Dihydropteridine Reductase
GED: General Education Development
Hb SC: Hemoglobin SC (trait)
Hb SS: Hemoglobin SS (Sickle cell anemia)
HRSA: Health Resources and Services Administration
NBS: newborn screening
NICHQ: National Institute for Children’s Health Quality
O2: oxygen
OFC: occipitofrontal circumference
PCN: penicillin
PFT: pulmonary function test
RBC: red blood cell
RuSH: Registry and Surveillance for Hemoglobinopathies
Rx: prescription
TCD: Trans-cranial Doppler