Transcript BabysFirstTest.org Pulse Ox Video

Pulse-ox to Policy:
The Story Behind Screening
Newborns for Heart Defects
Natasha Bonhomme
Baby’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
Condition Review – Current Process
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?
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 Conditions
Conditions 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 Conditions
Conditions 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 Agencies
Screening 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
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–
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Wisconsin
Michigan
New Jersey
New England Genetics Consortium
• 5 New England States: ME, NH, RI, CT, VT
– Utah
– Virginia
Demonstration Projects
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: What is
required of the hospitals involved
1) Number of infants born per year
2) Number of infants screened per year
3) 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
facility
6) Cost data – cost for screening per infant; costs associated with a positive
screen, including follow-up
7) Number of health providers trained on CCHD and screening protocols
8) 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 list
BabysFirstTest.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/mch
badvisory/heritabledisorders/recommendedpan
el/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 Test
[email protected]
Vice President of Strategic Development, Genetic Alliance, Inc