sontag - the state of newborn screening systems · 2016. 5. 17. · mks1 sontag, marci, 10/28/2014....
TRANSCRIPT
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The State of Newborn Screening Systems
Marci Sontag, PhD
www.newsteps.org
NewSTEPS is funded by Cooperative Agreement # U22MC24078 from the Health Resources and Services Administration (HRSA).
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“The only constant in newborn screening is the
baby”• Harry Hannon, PhD
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Newborn Screening Systems in the United States
• Fifty years of newborn screening
• One disorder in 1963, dozens in 2014
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NBS in the News
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The state of newborn screening systems is strong
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What do we know about our newborn screening systems in the U.S.?
• 51 newborn screening programs
• 36 newborn screening labs
• Geographically diverse– 663,000 Square Miles to 1,212 square miles
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Number of Annual Births in the U.S.
0
100,000
200,000
300,000
400,000
500,000
600,000
Num
ber o
f Births/year
States (each bar is one state)
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Number of Annual Births in the U.S.
0
100,000
200,000
300,000
400,000
500,000
600,000
Num
ber o
f Births/year
States (each bar is one state)
Median – 52,200
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Number of Annual Births in the U.S.
0
100,000
200,000
300,000
400,000
500,000
600,000
Num
ber o
f Births/year
States (each bar is one state)
50% of states21,000 – 87,000
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Number of Annual Births in the U.S.
0
100,000
200,000
300,000
400,000
500,000
600,000
Num
ber o
f Births/year
States (each bar is one state)
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Birth rates vary between states
• The number of live births per 1,000 population varies
• May point to different needs
http://kff.org/other/state‐indicator/birth‐rate‐per‐1000/#map
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NBS Fees in the United States
$0
$20
$40
$60
$80
$100
$120
$140
$160
$180
New
born Screening
Fee
States (each bar is one state)
• In some states newborn screening fees are only a part of the funding source.
• How are fees used?– Lab tests– Follow‐up– Clinical contractors– IT services– Courier Services– Administration– Education
median $75.0025th percentile $53.2575th percentile $101.50
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Operating hours on Saturdays
Saturday Hours
ClosedAll dayTypical hoursLimited hours
N = 32
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Storage of Dried Blood Spots
1‐6 months
6 months ‐< 1 year
1 year
2‐5 years
More than 18 years
• Storage of dried blood spots varies in state newborn screening programs– Recent legal events have changed the landscape
– Changes are continuing
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Adding new disorders
• Requirements for adding conditions vary by state– Legislative action– Board of Health/Advisory Committee
• Many states are faced with new screens added through legislative actions
MKS1
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Slide 15
MKS1 Sontag, Marci, 10/28/2014
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Over 90% of infants are born in states with CCHD Screening Mandates
www.newsteps.org
Universally Required by law/rule; fully implemented 81%Required by law or rule but not yet fully implemented 11%Being considered, not yet approved 3%Offered to select populations or by request 5%
* Universally Offered
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Over 65% of infants in the U.S. are born in states with SCID mandates
Universally Required by law/rule and fully implemented 60%Universally offered 2%Required but not yet implemented 4%Offered to select populations or by request 12%Being considered, not yet approved 1%Not screened 21%
www.newsteps.org
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New Conditions Under Consideration
• Decision pending from Secretary of Health Human Services for Pompe– Screened in 7 states (under mandates, pilots)
• Secretary’s Discretionary Advisory Committee for Heritable Disorders in Newborns and Children Currently Reviewing:– Mucopolysaccharidosis I (MPS‐1)
• Screened/pilots in 4 states– X‐linked Adrenoleukodystrophy (ALD)
• Screened/pilots in 6 states
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Screened Conditions Not on the Recommended Uniform Screening Panel
01
23
4
56
78
Num
ber o
f States
Condition is currently being pilottested
Universally offered but not yetrequired
Likely to be detected (andreported)
Universally required
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0
1
2
3
4
Num
ber o
f states
Offered to select populations, orby request
Condition is currently being pilottested
Universally offered but not yetrequired
Likely to be detected (andreported)
Universally required
Screened/Pilots in only one program• Formiminoglutamic acidemia ‐ FIGLU• Hyperornithinemia with Gyrate Deficiency ‐ Hyper ORN• Mucopolysaccharidosis II ‐MPS II• Prolinemia Type I/ Type II ‐ PRO
Screened Conditions Not on the Recommended Uniform Screening Panel
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Making improvements in NBS
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Colorado
Partnering with Colorado Hospital Association, laboratory and nursing staff:
“NBS process improvement group”
Mapped out processes of from prenatal care to follow‐up
Implementing best practices
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Timeliness
TexasImplementation of pilot courier service
2010.
2009 33% of first screen specimens received at greater than 4 days
April 2014 3.7% of first screen specimens received at greater than 4 days
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South Carolina
Rapid improvement cycle partnershipHospital Association and Lab: Phased in Saturday and Holiday Testing and follow‐
up testing
47% shipped within 24 hours of collection at baseline
65% after one month shipped within 24 hours of collection at baseline
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State of Newborn Screening in the U.S.
• The state of newborn screening is strong
• We are facing a dynamic future
• The one constant, now and in the future, is the baby
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Acknowledgments
• U.S. NBS Programs• NBS Community • NewSTEPs Committees
Funding Source– HRSA (CoAg# U22MC24078)