Newborn Screening

Updated On Feb 25, 2022

This information is meant to be used for educational purposes to inform providers, patients, and genetic service delivery stakeholders about genetics policy topics. Sharing of information, resources, or policy statements is no way an endorsement of stated positions by NCC.

Introduction

Newborn screening is a public health program administered by each state to identify specific health conditions soon after birth. Nearly 4 million babies are screened every year using the blood spot test for a range of serious conditions that once identified can be treated or provided intervention by healthcare providers, sometimes changing the entire trajectory of the disease or condition’s prognosis and associated comorbidities.

In general, newborn screening is intended to test babies for conditions that are not readily apparent at birth, can seriously affect health, and are treatable or have some form of intervention possible. Thus, there are debates over which conditions are appropriate for newborn screening.

Other policies that are debated in the realm of newborn screening include:

  • What to do with the dried blood spots: Some believe that once the newborn screen is done, these should be destroyed. Others believe that these are valuable future resources, which may benefit the individual (i.e., testing for a disease in the future) or society (i.e., large scale research could be done on these blood spots). (For more information, see this article.)
  • Emergency preparedness: When there are crises, what obligations does a state have toward newborn screening? Some have argued that during emergencies, such as Hurricane Katrina or COVID-19, standards of care can be relaxed. Some examples include:
    • If a baby is in a hospital that is flooded due to a weather emergency, can the staff have more time to obtain a blood spot? If the baby has an illness that would have been detected and delays in obtaining a blood spot led to delays in treatment which harm the baby, is there blame or financial compensation?
    • During COVID-19, when states were issuing orders that hospitals only provide essential services, is newborn screening an essential service? Most states collect a sample at birth within 24-28 hours of birth and a second sample 1-2 weeks later. Should parents, with babies that appear healthy, come to the hospital 1-2 weeks later for the second sample? Can parents choose to isolate and not have the screen?

For more information on this topic, please see this paper which describes best practices and contingency plans for newborn screening and other genetic services in emergent situations.

Legislation and Regulation

As newborn screening is a state-based program, each state determines which conditions are screened for, how the screen is paid for, and how follow-up and treatment is handled. For more information on newborn screening in your state, visit the Health Resources & Services Administration (HRSA) Newborn Screening website or Baby’s First Test.

Are you interested in learning what your state’s government or the federal government are currently proposing for either legislation or regulation? Check out Legislative/Tracking system for up-to-date information and subscribe to our Twitter channel to get the latest updates in your pocket.

Policy Positions

Organizations working within the genetics community (national genetic organizations, advocacy organizations, etc.) have published positions on newborn screening. Explore these position statements below.

 

Position Statements by Organizations
Save Babies Through Screening Foundation Position Statement on addition of new disorders to the SACHDNC recommended uniform panel and to individual state newborn screening programs
Organization
Save Babies Through Screening Foundation
Subject
Newborn Screening
Date
Newborn Screening (in development)
Organization
Association of State and Territorial Health Officials (ASTHO)
Subject
Newborn Screening
Date
Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Newborn Screening Hearing Screening
Date
January 1, 2000
Tandem mass spectrometry in newborn screening
Organization
American College of Medical Genetics and Genomics (ACMG), American Society of Human Genetics (ASHG)
Subject
Newborn Screening
Date
July 1, 2000
Statement On Newborn Screening And Treatment Of Individuals With Inborn Errors Of Metabolism Detected By Newborn Screening
Organization
Society for Inherited Metabolic Disorders (SIMD)
Subject
Newborn Screening
Date
June 7, 2004
Newborn Screening: Toward a Uniform Screening Panel
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Newborn Screening
Date
May 1, 2006
Considerations and Recommendations for National Guidance Regarding the Retention and Use of Residual Dried Blood Spot Specimens after Newborn Screening
Organization
Genetic Alliance
Subject
Newborn Screening
Date
July 1, 2010
Newborn Screening and Storage and Use of Residual Newborn Screening Blood Spots
Organization
Society for Inherited Metabolic Disorders (SIMD)
Subject
Newborn Screening
Date
March 3, 2011
HIT Policy Committee: Meaningful Use Workgroup
Organization
Genetic Alliance
Subject
Newborn Screening
Date
July 29, 2010
Emergency preparedness for newborn screening and genetic services
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Newborn Screening Emergency Preparedness
Date
May 13, 2009
Position Statement on Importance of Residual Newborn Screening Dried Blood Spots
Organization
American College of Medical Genetics and Genomics (ACMG)
Subject
Newborn Screening
Date
April 29, 2009
Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease
Organization
American Academy of Pediatrics (AAP)
Subject
Newborn Screening
Date
January 1, 2012
Newborn Screening: The Role of the Nurse
Organization
International Society of Nurses in Genetics (ISONG)
Subject
Newborn Screening
Date
September 1, 2012
Newborn Screening Four Facts Policymakers Need to Know
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
December 20, 2012
Identifying abnormal newborn screens requiring immediate notification of the health care provider [time-critical newborn screening conditions]
Organization
Society for Inherited Metabolic Disorders (SIMD)
Subject
Newborn Screening
Date
August 21, 2014
APHL Position Statement Newborn Screening Follow-up
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
March 1, 2017
APHL Policy Statement on Quality Assurance in the Newborn Screening (NBS) Laboratory
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
December 1, 2015
Newborn Screening
Organization
Association of Women's Health, Obstetric and Neonatal Nurses (AWHONN)
Subject
Newborn Screening
Date
January 1, 2016
Coalition letter urging Congress to preserve funding for programs that provide critical support to state newborn screening programs
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
February 10, 2017
Coalition letter urging Congress to provide funding for newborn screening in FY 2018 appropriations
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
April 4, 2017
Newborn Screening
Organization
National Society of Genetic Counselors (NSGC)
Subject
Newborn Screening
Date
February 25, 2022
Blood Spot Storage and Use
Organization
National Society of Genetic Counselors (NSGC)
Subject
Newborn Screening Genetic Privacy
Date
December 12, 2017
Delay in State Adoption of Newborn Screening Tests
Organization
EveryLife Foundation for Rare Diseases
Subject
Newborn Screening
Date
December 1, 2017
APHL Position Statement Newborn Screening Contingency Planning
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening Emergency Preparedness
Date
December 1, 2017
APHL Position Statement Newborn Screening Residual Dried Blood Spot Specimens
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
August 1, 2017
Coalition letter opposing proposed budget cuts to newborn screening programs
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
July 6, 2017
APHL Position Statement Newborn Screening Short Term Follow-Up
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
July 1, 2017
APHL Position Statement Parental Consent for Newborn Screening
Organization
Association of Public Health Laboratories (APHL)
Subject
Newborn Screening
Date
July 1, 2017
Group Letter to Chairman Cole and Ranking Member DeLauro on Support for Newborn Screening in Fiscal Year 2019 Labor, Health and Human Services, Education, and Related Agencies Appropriations
Organization
March of Dimes
Subject
Newborn Screening
Date
April 25, 2018
Leveraging Evidence-Based Public Policy and Advocacy to Advance Newborn Screening in California
Organization
EveryLife Foundation for Rare Diseases
Subject
Newborn Screening
Date
February 1, 2019
Group Support Letter to United States House of Representatives on Newborn Screening Saves Lives Reauthorization Act of 2019
Organization
March of Dimes
Subject
Newborn Screening
Date
June 24, 2019
Coalition letter to Congress in support of the Newborn Screening Saves Lives Reauthorization Act (H.R.2507)
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
June 24, 2019
Coalition statement expressing appreciation over the introduction of the Newborn Screening Saves Lives Reauthorization Act in the Senate
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
July 18, 2019
Group Letter to Secretary Azar on Efforts to Reauthorize the Newborn Screening Saves Lives Act
Organization
March of Dimes
Subject
Newborn Screening
Date
December 19, 2019
Coalition letter urging Secretary Azar to ensure that the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) can continue its work
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
December 19, 2019
Coalition Letter to House Appropriations Committee on Support for Newborn Screening Program
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
September 9, 2020
Coalition Letter to Senate Appropriations Committee on Support for Newborn Screening Program
Organization
National Organization for Rare Disorders (NORD)
Subject
Newborn Screening
Date
September 9, 2020

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