Newborn Screening Overview Marie Mann, M.D., M.P.H. U.S. Department of Health and Human Services Health Resources and Services Administration Maternal.

Newborn Screening Overview

Marie Mann, M.D., M.P.H. U.S. Department of Health and Human ServicesHealth Resources and Services Administration

Maternal and Child Health Bureau

Newborn Screening

The term is used to refer to two programs that may or may not have linkages:

1. Traditional biochemical screening for inherited conditions (metabolic, endocrine, hematological, etc.)

2. Screening for congenital hearing loss

In this presentation, “newborn screening” will refer to the traditional heelstick biochemical testing program.

What is Newborn Screening?

An essential public health program that prevents catastrophic health consequences through early detection, diagnosis and treatment.

A complex system of testing, evaluation, and treatment that involves families, laboratory personnel, administrative and follow-up personnel, primary and specialty health care professionals, policy makers, sources of payments, manufacturers, and other interested persons or groups.

Brief Review:Newborn Screening History

1960s Guthrie developed

filter paper test for PKU. (Identified newborns with PKU whose diet could be modified thus preventing mental retardation.)

Bob Guthrie Guthrie - 1961

Brief Review:Newborn Screening History

1960s Parents pressed for testing through

organized lobbying.

State legislatures began to pass mandatory newborn screening laws to reduce institutionalization.

Guthrie developed other filter paper metabolic tests.

Brief Review:Newborn Screening History

1970s – 1980s Programs expanded to higher

incidence disorders – congenital hypothyroidism – and disorders that result in death – congenital adrenal hyperplasia, galactosemia.

Legislatures began asking programs to become self-supporting.

Brief Review:Newborn Screening History

1990s

DNA tests used as second tier – Sickle Cell Disease screening, Cystic Fibrosis screening

Tandem mass spectrometry (MS/MS) adapted to allow simultaneous detection of multiple disorders

Brief Review:Newborn Screening History

2000s Newborn hearing screening

Public pressure to expand testing with MS/MS

Emphasis on program integration (especially data)

Privacy concerns – residual blood spot, federal HIPAA rules (data sharing)

Newborn Hearing Screening (OAE)

Components of the Newborn Screening System

Screening:• Sample collection

• Sample submission• Laboratory testing

Follow-up:• Obtain test results

• Get results to family • Repeat test(s) if needed

• Ensure diagnostic testing

Diagnosis:• Subspecialist Assessment

• Results shared with family

• Counseling if necessary

Management:• Treatment

• Long-term follow-up

• Specimen storageEvaluation:

• Quality assurance

• Outcome evaluation

• Cost effectiveness

Components of the Newborn Screening System

Screening:•Sample collection

•Sample submission•Laboratory testing

Follow-up:•Obtain test results

• Get results to family •Repeat test(s) if needed

•Ensure diagnostic testing

Diagnosis:•Subspecialist Assessment•Results shared with family•Counseling if necessary

Management:•Treatment •Long-term follow-up•Specimen storage

Evaluation:•Quality assurance •Outcome evaluation•Cost effectiveness

EducationEducation

3 Disorders (1)

More than 8 Disorders (32) [More than 30 Disorders (15)]

7 Disorders (4)

6 Disorders (4)

5 Disorders (2)

4 Disorders (6)

8 Disorders (2)U.S. Newborn Screening

Mandated Disorders – Nov. 2004 (Note: Other disorders may be offered but are not mandated and some mandated may yet not

be implemented)

>30

>30 26

>30

>30

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>30

>30

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26

40

14

29

9

9

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19

12

9

10

21

>30

13 10

>30

>3027

DC

>30

>30

Disorders Mandated in United StatesNovember 2004

35(4)

22 (1)2

8 (4)

51 51 49 (2) 51

40 (1)37 (4)

35 (2) 34 (5)

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Optional or Pilot ( )

Mandated

NNSGRC Web site: http://genes-r-us.uthscsa.edu

(Genetics and Newborn Screening Resource Center of the U.S.)

Includes links and online tools for newborn screening and genetics programs including:

– Program links and testing summaries– State newborn screening data accumulated

annually

On line genetics and newborn screening program information and assistance:

Summary

Newborn Screening Works – Approximately 4,000 newborns are detected annually with one of the conditions being screened.

There are many program differences across the nation.

More than 1,000 newborns with detectable conditions go undetected because they are not screened for all conditions currently available.

Summary

A national screening mandate does not currently exist.

There is Federal and State interest and support in improving programs to improve equity between programs.

There is continuing national interest in expanding newborn screening programs.

For additional information, please contact :

Marie Mann, M.D., M.P.H.

301-443-1080

[email protected]