treuman katz center for pediatric bioethics - 2008 conference newborn screening: the future...

Treuman Katz Center for Pediatric Bioethics - 2008 Conference

Newborn Screening: The Future RevolutionNewborn Screening: The Future Revolution

Beth A. Tarini, MD, MSBeth A. Tarini, MD, MSBeth A. Tarini, MD, MSBeth A. Tarini, MD, MS

Assistant ProfessorAssistant ProfessorChild Health Evaluation and Research UnitChild Health Evaluation and Research Unit

University of MichiganUniversity of Michigan

Assistant ProfessorAssistant ProfessorChild Health Evaluation and Research UnitChild Health Evaluation and Research Unit

University of MichiganUniversity of Michigan


“If you don't know where you are going, any road will get you there.”

- Lewis Carroll

“If you don't know where you are going, any road will get you there.”

- Lewis Carroll


Where do we want to go with newborn screening?



What do we want the ultimate goal of newborn screening to be?

What do we want the ultimate goal of newborn screening to be?


OutlineOutline

• Newborn screening of the present

• Newborn screening of the future

• Implications of future system





Newborn Screening NowNewborn Screening Now• Public health program

• Newborns screened after birth for inherited, treatable disorders

• Examples

– Phenylketonuria (PKU)

– Congenital Hypothyroidism

– Sickle Cell Disease

• Public health program

• Newborns screened after birth for inherited, treatable disorders

• Examples

– Phenylketonuria (PKU)

– Congenital Hypothyroidism

– Sickle Cell Disease


Newborn Screening PolicyNewborn Screening Policy

• Mandated• Mandated


Newborn Screening PolicyNewborn Screening Policy

• State regulated• State regulated


Copyright ©2006 American Academy of PediatricsCopyright ©2006 American Academy of Pediatrics

Tarini, B.A. et al. Pediatrics 2006;118:448- 456Tarini, B.A. et al. Pediatrics 2006;118:448- 456

Increase in newborn screening testing across states: 1995-2005Increase in newborn screening testing across states: 1995-2005


Mission of Newborn Screening:ACMG

Mission of Newborn Screening:ACMG

“…newborn screening programs are designed to provide early diagnosis and treatment before significant, irreversible damage occurs.”

“…newborn screening programs are designed to provide early diagnosis and treatment before significant, irreversible damage occurs.”


Mission of Newborn Screening: AAP

Mission of Newborn Screening: AAP

“Newborn screening…aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities.”

“Newborn screening…aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities.”


Mission of Newborn ScreeningMission of Newborn ScreeningEARLY

IDENTIFICATIONEARLY

IDENTIFICATION

IMPROVEDINFANT OUTCOMES


INTERVENTIONINTERVENTION


Disorders Added Under Current Mission


PKUPKU

19631963 19871987

Sickle Cell Disease

Sickle Cell Disease

Congenital Hypothyroidism


Late 1970sLate

1970s


Cystic FibrosisCystic

Fibrosis

20032003

Tandem Mass Spec Disorders


20052005



20??20??

??


OutlineOutline








Disorders for the FutureDisorders for the Future

20??20??

Duchenne’s Muscular Dystrophy

Spinal Muscular Atrophy

Duchenne’s Muscular Dystrophy

Spinal Muscular Atrophy

Cystic FibrosisCystic

Fibrosis

20032003



20052005


Treatment for Duchenne’s?Treatment for Duchenne’s?


Should we screen only when an effective treatment exists?Should we screen only when an effective treatment exists?


Screening only when effective treatment exists is…

Screening only when effective treatment exists is…

“outmoded because it fails to consider other benefits of diagnosis in the newborn period”



Screening only when effective treatment exists…


“dooms us to continued ignorance and unavailability of treatment“dooms us to continued ignorance and unavailability of treatment

because affected individuals are not identified until they exhibit symptoms, too late for effective preventive interventions to be tested or applied.”

because affected individuals are not identified until they exhibit symptoms, too late for effective preventive interventions to be tested or applied.”


Current Mission of Newborn Screening

Current Mission of Newborn Screening

EARLY IDENTIFICATION




INTERVENTIONINTERVENTION


Future Mission of Newborn Screening

Future Mission of Newborn Screening



“OTHER BENEFITS”“OTHER BENEFITS”RESEARCHRESEARCH


Other Benefits:Future Newborn Screening

Other Benefits:Future Newborn Screening

• Avoid diagnostic odyssey

• “Prepare” for disease

• Reproductive decision making

• Early access to promising therapies


• “Prepare” for disease




No Benefits Without HarmsNo Benefits Without Harms

HARMS

BENEFITS


Other Harms:Future Newborn Screening


• More Tests, More False Positives– Parental anxiety– Lingering doubts about test result– Later increased healthcare utilization

• More Tests, More False Positives– Parental anxiety– Lingering doubts about test result– Later increased healthcare utilization




• Ambiguous results– Parental anxiety– Labeling effect– Unnecessary treatment

• Ambiguous results– Parental anxiety– Labeling effect– Unnecessary treatment


Consequences of ScreeningConsequences of Screening

Disease that will become symptomatic

Disease detected clinically

Disease detected clinically

“Pseusodisease”“Pseusodisease”

Disease detected by screening

Disease detected by screening

Disease that will remain asymptomatic

Wolf, BMJ, 2003


Screening only when effective treatment exists

Screening only when effective treatment exists

“…because affected individuals are not identified until they exhibit symptoms, too late for effective preventive interventions to be tested or applied.”

“…because affected individuals are not identified until they exhibit symptoms, too late for effective preventive interventions to be tested or applied.”


Newborn Screening as Research

Newborn Screening as Research


To benefit from research…To benefit from research…

• Establish research infrastructure– National or regional– Address medical and social outcomes– Requires resources– Takes time

• Establish research infrastructure– National or regional– Address medical and social outcomes– Requires resources– Takes time


To benefit from research…To benefit from research…

• 2005, ACMG NBS recommendation

– “develop national systems for the collection of clinical information about those individuals identified in screening”

• 2008

– Development of infrastructure in process

• 2005, ACMG NBS recommendation

– “develop national systems for the collection of clinical information about those individuals identified in screening”

• 2008

– Development of infrastructure in process


OutlineOutline








Future Newborn

Screening as Mandatory Research

Future Newborn

Screening as Mandatory Research

Current newborn screening is mandatory…

Current newborn screening is mandatory…


Can you mandate based on these benefits?

Can you mandate based on these benefits?


• “Prepare” for disease onset




• “Prepare” for disease onset




Parental Consent ProcessParental Consent Process

• Current process needs modification

– Many states don’t obtain active consent

• Focus on parental education

• Address needs of research subjects

• Current process needs modification

– Many states don’t obtain active consent

• Focus on parental education

• Address needs of research subjects


Expansion of newborn screening requires

expansion of resources

Expansion of newborn screening requires

expansion of resources


More than a test…More than a test…



Follow-up testing

& evaluation

Education Screening

Treatment & long-term

management



Public Health

Primary Care Physicians

Specialty Physicians

FAMILIES


Public Health ServicesPublic Health Services

PKU


Sickle Cell

Cystic Fibrosis

Emergency Urgency

Public Health

Clinical Service


Where do we put Duchenne’s?Where do we put Duchenne’s?

Emergency Urgency

Public Health

Clinical Service

Duchenne’s

Duchenne’s Duchenne’s

Duchenne’s

XX

XX


Where will it end?Where will it end?


What disorders will we NOT add?What disorders will we NOT add?


Julia

• 5 day old female term infant

• Being seen at her pediatrician’s

office for check-up

• Pediatrician reviews newborn

screening results with family

Julia

• 5 day old female term infant

• Being seen at her pediatrician’s

office for check-up

• Pediatrician reviews newborn

screening results with family

Newborn Screening 2020Newborn Screening 2020


• Positive screen for congenital

hypothyroidism

• Carrier for Fragile X

• Genetic mutations that increase her

risk for autism, depression,

type 2 diabetes

• Positive screen for congenital

hypothyroidism

• Carrier for Fragile X

• Genetic mutations that increase her

risk for autism, depression,

type 2 diabetes

Julia’s newborn screening results…

Julia’s newborn screening results…


AcknowledgementsAcknowledgements

• Treuman Katz Center for Pediatric Bioethics

• Duane Alexander, MD

• Ben Wilfond, MD

• Wylie Burke, MD, PhD

• Child Health Evaluation & Research Unit, University of Michigan

• Treuman Katz Center for Pediatric Bioethics

• Duane Alexander, MD

• Ben Wilfond, MD

• Wylie Burke, MD, PhD

• Child Health Evaluation & Research Unit, University of Michigan

treuman katz center for pediatric bioethics - 2008 conference newborn screening: the future...

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newborn screening testing

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aap newborn

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