TABLE 2.

A framework for defining and assessing the goals of NBS, by screened condition. Here, phenylketonuria (PKU) is used as an example. Data sources will vary by condition.

CATEGORICAL UNIVERSAL AIM, (All Conditions)	CONDITION SPECIFIC GOAL (PKU as an example)	POTENTIAL MEASURE (PKU as an example)	POTENTIAL Data Sources (PKU as an example)	Key ATTRIBUTE (PKU as an example)
Rapid and Reliable Detection and Diagnosis
Condition detected by NBS	Universal detection	Newborn screening performed -Date first newborn screen collected -Phe on first screen -Tyr on first screen	State programs NewSTEPS IBEM-IS	Universal screening
Condition confirmed and diagnosed	Accurate diagnosis	Diagnostic labs performed: -Blood spot -phenylalanine -Plasma amino acid profile -Plasma tyrosine -Urine organic acids -Blood spot tyrosine -Plasma phenylalanine -RBC (DHPR) activity -Urine pterins	IBEM-IS NewSTEPs	Universal diagnosis through screening
	Rapid initiation of treatment	-Days of age from birth until intervention for this condition -Days of age from birth until first seen by subspecialist -Days of age at initiation of phenylalanine restriction -Days of age (after dietary phenylalanine restriction was initiated) at time first phenylalanine level was documented below 360 μmol/L (6 mg/dL)	NewSTEPS IBEM-IS Medication-specific registries	Universal diagnosis through screening
Provision of Evidence-based Care
Growth and development	Maintenance of normal growth	Length, weight, OFC, BMI at visits	Clinics IBEM-IS	Evidence-based treatment
	Maintenance of normal development	Full scale IQ obtained	IBEM-IS Medication-specific registries Parent-report registry	Evidence-based treatment
	Continuing developmental assessment	-Developmental assessment at visits, who did and how – collects information if formal neuropsychometrics done -Assessment of developmental/intellectual, executive functioning, behavioral/emotional and adaptive skills and if referral made -Early Intervention Services: occupational therapy, physical therapy, speech- language therapy -Educational evaluation–type of special education services (Individualized Educational Program or 504 plan and nature of disabilities)	IBEM-IS	Evidence-based treatment
	Educational/functional performance (Grade level for age, special services, employment status)	-Grade level X at age X -High school diploma or GED by age 25* - employed or in school	Public health Department of Education databases IBEM-IS	Evidence-based treatment
	Maintenance of normal nutritional status	-dietary intake -nutrient analysis, - nutrition counseling/ education -What medical food is prescribed? -How much? -Who pays? -How much phenylalanine prescribed?	Clinics IBEM-IS	Evidence-based treatment
	Genotype-based facilitation of pharmacologic management	Genotype	Clinics IBEM-IS	Evidence-based treatment
Other therapies	Optimization of management	Use of sapropterin Payment source for medications	IBEM-IS, Medication-specific registries	Evidence based treatment
Coordination and Integration of Services
Primary care provider	Patients need a medical home	Patient has primary provider (name) Distance to primary provider Receiving preventive care Immunizations Sick visits since last visit Had anesthesia? Had surgery? Complications of surgery?	IBEM-IS Public Health LTFU	Care coordination through a medical home
Metabolic care provider	Patients need access to appropriate specialty care	-Patient has had an outpatient metabolic visit -Date of last outpatient metabolic visit -Other provider seen at metabolic care visits, -Missed visits	IBEM-IS	Care coordination through a medical home
Other specialty services/providers	Patients need access to appropriate specialty care	Other specialty providers seen since last visit	IBEM-IS	Care coordination through a medical home
Genetic counseling services	Patients should have genetic counseling	Genetic counseling provided Provider of genetic counseling	IBEM-IS	Care coordination through a medical home
Other community resources	Patients require access to community resources	Receiving services (specifies what services)	IBEM-IS	Care coordination through a medical home
Patient-centered engagement and satisfaction	Access to care	-Locations of services -Distances to services -Type of service (e.g., telemedicine, in person)	IBEM-IS	Care-coordination
Patient has coverage	Patients need insurance coverage	[Captures coverage type, list of options: unknown, commercial/private, military, none, self-pay, state program (non-Medicaid/Medicare), state/federal program (Medicaid/Medicare),other]	IBEM-IS	Care coordination through a medical home
Pregnancy	Prevention of maternal PKU syndrome	[special data collection tool used for pregnancy progress]	IBEM-IS	Evidence based treatment
Continuous Improvement of Care, Discovery and Innovation
Engagement in research		Patient enrolled in study Which study?	IBEM-IS	New knowledge generation

^*Health People 2020 Goal (http://www.healthypeople.gov/2020/topicsobjectives2020/objectiveslist.aspx?topicid=4)

Abbreviations:

BMI: Body Mass Index

DHPR: Dihydropteridine Reductase

IBEM-IS: Inborn Errors of Metabolism – Information System

IQ: Intelligence Quotient

NBS: newborn screening

NewSTEPS: Newborn Screening Technical Assistance and Evaluation Program

OFC: occipitofrontal circumference

RBC: red blood cell

LTFU: long-term follow-up