Pulse-ox to Policy: The Story Behind Screening Newborns for

Heart Defects

Natasha BonhommeBaby’s First Test, Genetic Alliance

Disclosure

I have no financial or intellectual conflicts of interest

Agenda

• SACHDNC Nomination Process

• Rationale for CCHD Screening

• Implementation Efforts

• Resources

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

• Established in 2003• Responsible for advising the Secretary of HHS

on matters relating to newborn screening including technology, tests, policies and guidelines

• 10 voting members 16 liaisons/agency representatives

• Recommended Uniform Screening Panel

Recommended Uniform Screening Panel (RUSP)

• Federally recommended panel of conditions• Based on ACMG/HRSA report 2006• Federal gov. cannot mandate what is on the

state screening panels• Currently 31 conditions including CCHD

ACMG Recommended Panel

SACHDNC: Condition Nomination

• Nomination form– Nominator– Condition Information (disorder type, screening

method, treatment)– Evidence-Based Information (validity, sensitivity, pilot

study)• Administrative Review• Evidence Working Group Review• Presentation to Committee• Vote

1. Does screening improve outcomes?2. Is there a case definition and what is known about the

disorder?– Prevalence, spectrum of disease, natural history?

3. Is there a test for the disorder?4. Has the test been validated?5. What is the clinical utility of the test?6. How cost effective is the screening, diagnosis, and treatment

for this disorder compared with usual clinical case detection and treatment?

Condition Review – Current Process

Proposed Revision• Workgroup meets prior to presentation –

including 2 AC members• Evidence is discussed• SAC members frame their perspective

recommendations for the SAC• ERG presents data• SAC member presents their recommendations• SAC discusses and votes

Rationale for changes

AC renewal in 2013 – NBS Saves Lives Act– Must meet legislative requirements

Stature and visibility of SAC is growing– Assure processes are well planned out – Time to review current legislation and ensure

requirements are met

Other Nominated ConditionsConditions that have been nominated, received an evidence report, and are on the RUSP· Severe Combined Immunodeficiency (SCID)· Critical Congenital Cyanotic Heart Disease (CCCHD)

Conditions that have been nominated, received an evidence report, and the committee decided not to put them on the RUSP· Krabbe Disease· Hemoglobin H· Neonatal Hyperbilirubinemia

Other Nominated ConditionsConditions that have been nominated, received an evidence report, and the committee decided not to put them on the RUSP, and the nominators reapplied· Pompe Disease (In Review) Conditions that have been nominated, and the committee decided to put them to an evidence review (but the review is not finished)· MPS I (alpha-L-iduronidase deficiency)

Conditions that have been nominated, but the committee decided not to put them to the evidence review· 22q11.2 Deletion Syndrome· Adrenoleukodystrophy · Fabry Disease· Niemann-Pick Disease· Spinal Muscle Atrophy

Public Health and NBS

• Based on Wilson and Junger’s 1968 WHO paper • Screening Valuable If:

– Incidence is sufficient in the population– Therapy provided before onset of clinical manifestations results in an improved outcome– Screening identifies disease before symptoms– Test has acceptable sensitivity and false positive rates– Cost effective

Public Health and NBS

• Revision to matrix to include public health impact– Feasibility of state programs– Readiness of state programs– Cost

Congenital Heart Disease

Background

• Congenital Heart Disease (CHD)– 7 to 9 out of every 1,000 live births (US)– Estimated 25% have CCHD

• Critical Congenital Heart Disease (CCHD)– CHDs with life-threatening symptoms needing

intervention before 1 y.o.• Critical Congenital Cyanotic Heart Disease

(CCCHD)– CCHDs with hypoxemia in most if not all cases

Timeline for Addition

• Oct. 15, 2010 – SACHDNC recommends CCHD to be added to RUSP

• Sept. 21, 2011 – Secretary Sebelius adopts the recommendation to add CCHD to the RUSP

• Nov. 2011 – Strategies for Implementing Screening for Critical Congenital Heart Disease is published in Pediatrics

Why CCHD?

• Missed Diagnosis of Critical Congenital Heart Disease Chang, et alt. 2008

• Research implied that:– Nearly 40,000 infants/year with CHD– 4,000 infants/year with CCHD– Approximately 2,000 infants/year died or missed

• According to March of Dimes, CHD most common birth defect

Why CCHD?

According to the American Heart Association and American Academy of Pediatrics• Pulse oximetry may detect CCHD• CCHD may not be detected in some infants• Failure to detect is associated with significant

morbidity and occasional mortality

NBS Procedures: Pulse Oximetry

• Method which was reviewed by committee

• Simple, non-invasive point of care test

• Estimates percentage of hemoglobin in the blood that is saturated with oxygen

• Right hand and Right foot• Pulse ox tests should be done

after a baby is 24 hours old and before he or she leaves the hospital.

Rationale for screening• CHD 7-9 out of 1,000 live births I

US and Europe• Most common cause of death

during the first year of life• Large scale study found 78% of

cases with hypoplastic left heart syndrome (HLHS) were discharged before diagnosis- Universally fatal- Prenatal diagnosis alone

detects less than half of cases

Point-of-Care newborn screening

• Outside of the public health laboratory• Hearing screening• Raising issues of tracking and monitoring of

data collected

CCHD: Implementation

Responsibilities of Federal AgenciesScreening Standards and Infrastructure: - HRSA to guide development of screening

standards/infrastructure Education and Training: - HRSA to fund development of education/training materials - FDA to provide guidance to industry, staff on pulse oximeters Research: - NIH to focus on screening technology, diagnostic processes, care

provided and health outcomes Surveillance: - CDC to monitor infant mortality and health outcomes (utility

and evaluation)

Role of Public Health Agencies

• Public awareness• Facilitate standardization of implementation• Develop process for diagnostic confirmation,

follow-up, and data collection• Quality Assurance• Overall evaluation

CCHD: State level

CCDH Screening Today

Survey by NBDPN, 2010, 2011 Slide from J. Glidewell

CCHD Demonstration Projects• HRSA Funded• 3 year projects• Six States/ regions– Wisconsin– Michigan– New Jersey– New England Genetics Consortium

• 5 New England States: ME, NH, RI, CT, VT

– Utah – Virginia

Requirements• Network with state DPH, hospitals/birthing

centers• Reporting and education at the Provider and

state level• Guidelines for collection and reporting• Educational programs• State Level electronic system for information

collection form hospital to state

Demonstration Projects

Demonstration Projects: What is required of the hospitals involved

1) Number of infants born per year 2) Number of infants screened per year3) Number of infants with abnormal screens and referred for additional cardiac evaluations 4) Number of infants diagnosed with CCHD before discharge 5) Number of infants diagnosed with CCHD within one year of age (not detected via screening) and the comparison of outcomes regarding NBS detection and clinical detection at each participating hospital and/or birth facility6) Cost data – cost for screening per infant; costs associated with a positive screen, including follow-up7) Number of health providers trained on CCHD and screening protocols8) Number parents/families educated and counseled

Other Activities• Research on feasibility in

community hospitals• 2 Stakeholder meetings• Engaging payers• MD first state to pass

legislation• NJ first state to mandate

screening Aug 2012

Lessons learned

• Education is Key– Provider– Parent – Public

• Each state will do things a bit differently from state level down to hospital

• Poster/ materials needed to remind people of protocols

• “Champion” is important

www.BabysFirstTest.org Because every baby deserves to be healthy, and

each parent should know about newborn screening

Unique Feature: Clickable map takes users to state-approved profile

Unique Feature: Condition specific information

Unique Feature: Condition specific information

Advocacy: Driving Force

Parent Advocacy Groups• 1in100.org• www.tchin.org• www.mendedlittlehearts.org• www.CorasStory.com

Resource listBabysFirstTest.org Pulse Ox Video

• Baby’s First Test and Children’s National Medical Center 2012 Challenge Award project– Parent centered resource on pulse-ox– Provider centered pulse-ox video

• CDC: http://www.cdc.gov/ncbddd/pediatricgenetics/cchdscreening.Html

References• AMCHP and CDC Webinar: March 22, 2012• SACHDNC site

http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html

• Baby’s First Test: www.BabysFirstTest.org• Gerard R. Martin, MD, Elizabeth A. Bradshaw,

MSN, RN, CP Children’s National Medical Center http://www.childrensnational.org/PulseOx/

Questions? Thank you.

Natasha Bonhomme

Project Director, Baby’s First TestNatasha@babysfirsttest.org

Vice President of Strategic Development, Genetic Alliance, Inc