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University of Nevada Reno Division of Health Sciences
Nevada State Public Health LaboratoryNewborn Screening (NBS) Program
Screens for congenital and heritable disorders These disorders may cause severe mental retardation,
illness, or death if not treated early in life If treated, infants may live relatively normal lives Resulting in medical costs savings over time
PURPOSE OF NEWBORN SCREENING
Result In:
Growth problems Developmental delays Behavioral/emotional problems Deafness or blindness Organ Damage Retardation Seizures Coma, sometimes leading to death
If Untreated, Disorders Can
Newborn screening has been performed on Nevada infants since the early 1980’s; however, Nevada was sending the testing to the Oregon Public Health Laboratory for analyses
In 2011, legislation was modified to have the testing preferably done in Nevada. The Nevada State Public Health Laboratory was chosen to perform the testing
On July 1, 2014, the Nevada State Public Health Laboratory began screening all Nevada newborns for >40 disorders
History of Newborn Screening in Nevada
No funding was provided to the NSPHL to implement newborn screening. Existing staff validated and implemented the new methodologies and technologies associated with newborn screening
The NSPHL was fortunate to have a donor, Mick Hitchcock PhD, provide over $1 million dollars to purchase the highly complex and technical mass spectrometry instrumentation for the newborn metabolic testing
Experienced staff were hired as the NSPHL approached the July 1, 2014 live date to perform the daily testing and follow-up duties that would be required
On July 1, 2014, the Nevada State Public Health Laboratory began screening all Nevada newborns for >40 disorders
Implementation of Newborn Screening in Nevada
Utilizing existing employees for instrument setup, training and validation
Validated assays in phases to reduce the personnel needs/costs
Modified workflow schedules to incorporate NBS validation testing and routine NSPHL work with existing staff
Absorbing the Cost of Laboratory Startup
Nevada is 1 of 14 states currently requiring 2 NBS tests per infant. Many states recommend a 2nd NBS test; but do not require it
NBS Programs identify approximately 10% of diagnosed cases on the 2nd NBS sample
The NSPHL processes 200-600 specimens per day analyzing for >40 disorders per sample received
Nevada Newborn Screening Program
NBS cards are punched and tested on the day received
Normal results are mailed within 24 hours by regular postal service
Abnormal results are called, faxed and mailed to the hospital and Attending Physician within 48 hours of sample receipt
Timeliness Abnormal/Normal Results
The NSPHL and Follow-up staff have streamlined the workflow to ensure results are reported within 24-48 hours after sample receipt
“Panic” results are given priority and Specialists, the Attending Physician and hospital staff are notified immediately to assure appropriate medical care is administered to the baby
Nevada Workflow
The first screen at 24-48 hours or before leaving hospital, whichever is first
The second screen is recommended at 10-14 days of age
Premature and low birth weight babies (Neonatal Intensive Care [NICU]) are required to have three screens, one at NICU admission, 48-72 hours post NICU admission and at 28 days or at discharge
Take first screen before any medical treatment, TPN feeding or transfusion
Nevada Babies are Mandated to Have Two Newborn Screens performed
NBS Screening
Card
NewbornScreening
Card - NICU
Newborn Screening Card – SingleUsed for a lost 2nd screen card,
unsuccessful NBS submission or for PKU monitoring testing
NBS Data Required for Sample Linking and Result Interpretation
Linking of multiple specimens from same baby
Points assigned to each information
Demographic information of the mother and baby must match and must meet a minimum score for data system to automatically link
If below minimum score, put on a list for review and manually linked
Specimen Linking
NBS Sample Collection
Current Sample Transport mechanisms in use to send samples to the NSPHL:
FedEx
UPS
US Mail
Local & Hospital Couriers
Specimen Transport to NSPHL
Out-of-State Specimens
Hospitals/Clinics/Midwives
NSPHL
Blood Spot Test
Result Within Cutoff Value
Mail/Fax Report to Submitter
Result Outside Cutoff Value
Specimen retested to verify initial result
Borderline
Request for another
specimen
Presumptive Positive
Report to Follow-up
Coordinator
Coordinator contacts PCP, Specialist and
Diagnostic Lab
Normal
Mail/Fax Report to Submitter
Normal
Newborn Screening Workflow
Nevada NBS Monthly Sample Volumes
Organic Acid Conditions: Beta-ketothiolase deficiency (BKD)Glutaric acidemia, Type I (GA I)Isobutyryl CoA dehydrogenase deficiency (IBD)Isovaleric acidemia (IVA)Malonic aciduriaMaple syrup urine disease (MSUD)Methylmalonic acidemias (MMA/8 types)Propionic acidemia (PA)3-Hydroxy-3-methylglutaryl CoA lyase deficiency (HMG)2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (MBHD)2-Methylbutyryl CoA dehydrogenase deficiency (2MBC)3-Methylcrotonyl CoA carboxylase deficiency (3MCC) 3-Methylglutaconyl CoA hydratase deficiency (3MGH)Multiple carboxylase deficiency
UreaCycle Conditions: Arginase deficiencyArgininosuccinate lyase deficiency (ASA)Citrullinemia
Other Conditions: Biotinidase deficiencyGalactosemiaLysosomal storage diseases
IMMUNODEFICIENCY STATESSCID – Target Implementation 2017
CYSTIC FIBROSIS
ENDOCRINE CONDITIONS:Congenital adrenal hyperplasia (CAH)Congenital hypothyroidism
HEMOGLOBIN CONDITIONS: Sickle cell disease and other hemoglobinopathies
METABOLIC CONDITIONS: Amino Acid Conditions: HomocystinuriaHyperphenylalanemia, including phenylketonuria (PKU)TyrosinemiaFatty Acid Oxidation Conditions: Carnitine uptake defectCarnitine palmitoyl transferase I deficiency (CPT I)Carnitine palmitoyl transferase II deficiency (CPT II) Multiple acyl-CoA dehydrogenase deficiency (MADD)Short chain acyl-CoA dehydrogenase deficiency (SCAD) Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)Very long chain acyl-CoA dehydrogenase deficiency
Newborn Diseases Evaluated
Disorder occurs with significant frequency Test are inexpensive and reliable Effective treatment/intervention exists If untreated, baby may die or develop severe
retardation Affected baby may appear normal at birth American College of Medical Genetics
guidelines
Criteria for Screened Disorders
Number of Confirmed Cases: 115 Number of Babies Screened: 61,172Number of Tests Performed: 5,338,298
The Nevada NBS Program will identify approximately 300-500 infants with Sickle Cell Trait per year
Cases are referred to a Hematologist Consultant to explain the significance to parents and provide genetic counseling
Sickle Cell Disease cases are discussed at the quarterly Newborn Screening Advisory Committee meetings
Sickle Cell Trait
Received a 2-year CDC Grant to implement SCID testing in Nevada:
1st year – FY2016: Purchase equipment for validation and personnel training – In progress
2nd year – FY2017: Purchase additional equipment to implement statewide screening and “go live”
A fee increase will be required to support testing long-term
SCID Screening
Normal Result Report
Abnormal Result Report
Hardcopy Reports – Mailed Faxing individual reports upon request Automated Faxing by Client – in development
Implementing eReports: Client can login to the Nevada NBS System to
view/print reports In the future, link to Nevada’s Health Information
Exchange (HIE) for report access
Reporting Mechanisms
Monthly reports are provided to submitters reporting on: Sample Card Transit Times Demographic Errors Specimen Collection Errors Unsatisfactory Samples Submitted for
Testing
Practice Profile Reports(Continuous Quality Improvement Monitor)
Confirmatory Testing is coordinated by the short-term follow-up personnel in conjunction with the Medical Consultant and Attending Physician. Confirmatory testing generally uses a different sample type and testing methodology than the screening assay
Confirmatory Testing
Receives the initial presumptive positive screening test from the laboratory and makes appropriate notifications to manage the case
Notifies the appropriate Newborn Screening Consultant Determines confirmatory testing to be performed in
conjunction with the appropriate NBS Consultant Arranges for baby’s confirmatory sample to be collected
and sent to a designated confirmatory lab
Assures results are received timely and newborns receive the appropriate care
Follow-up ActivitiesFollow-up Coordinator located in Las Vegas, NV
Nevada Statewide Medical ConsultantsNicola Longo, MD, PhD University of Utah Genetics/PediatricsMetabolic Consultant (Biotinidase Deficiency, Galactosemia, Organic Acidemias, Urea Cycle, Amino Acid, Fatty Acid Oxidation Disorders)Consultation & Clinics Northern and Southern Nevada
Alexandra Aguilar, MD Endocrinology Consultant (Hypothyroidism, Congenital Adrenal Hyperplasia)
Jonathan Bernstein, MD Children’s Center for Cancer and Blood DisordersHemoglobinopathy Consultant (Sickle cell diseases)
Craig Nakamura, MD Children’s Lung Specialists, LTD Pulmonary Consultant (Cystic Fibrosis)
Nevin W. Wilson, MD & Mary Beth Hogan, MDUniversity of Nevada School of Medicine - PediatricsImmunology-SCID Consultants
This is a screen. There are presumptive positives reported that are “true positives” & some “false positives” - Confirmation is required to distinguish
The newborn screen is designed to detect babies at risk before they have signs and symptoms
Early detection and treatment results in prevention of irreversible complications
There is often no family history. Siblings may not have history of any screened disorders
Things Parents Should Know About Abnormal Screens
Nevada’s fee for NBS laboratory testing is part of the birth registry fee defined in NAC 440.210. The fee is currently $81 for both the 1st and 2nd sample testing
Plans are underway to remove the NBS fee from the birth registry fee and obtain the fee through an alternate mechanism
Newborn Screening Fee
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State
NBS Fee by State (April 2016)Source: NewSTEPs – Association of Public Health Laboratories
The NBS Fee payment protocol may change in the future as the NBS fee is removed from the birth registry payment system
With Newborn Screening Panel test expansion in Nevada, fees will increase to sustain the program expansion and assure care of infants
NBS Fee Adjustment
In 2011, the National PKU Alliance published a monograph on the collective cost of treating just PKU in USA: About 4 Million babies screened per year Collective national cost of such: $200M Annual cost PER PERSON of special formula: $7,100 Nursing care in a long term setting: ~$100,000 Cost of managing disabilities, “treated too late”
$1 – 2 BILLIONFrom Buist et al., June 2009
Final Words About Cost
Provides program review for dried blood spot and hearing screenings
Provides a voice for consumers
Discuss newborn screening best practices
Promotes advocacy
Review proposals for addition of NBS tests
Provide recommendations
Nevada NBS Advisory CommitteeMeet Quarterly via Video Conference
Reno & Las Vegas Locations
NBS Pamphlets (English & Spanish) Collection and Newborn Screening Program
Video Collection posters NBS website Power Point presentations of NBS Collection Online Provider Education On-site In-Service trainings
Resources for Providers
Stephanie Van Hooser, MBA, MT(ASCP), CLSNV State Public Health LaboratoryAdministrative [email protected]
Bonifacio (Jojo) Dy, MDNV State Public Health LaboratoryNewborn Screening Manager [email protected]
Contact Information
Questions?