Skip to main content

Newborn Screening and Genetics Overview

APHL drives newborn screening systems to excellence by shaping policy, promoting data-driven improvements and pursuing innovations in public health laboratory practice so all babies can have a healthier start.

Questions?

Contact the Newborn Screening and Genetics team: [email protected]

WHAT OUR MEMBER LABORATORIES DO

Giving Babies a Healthier Start

Newborn screening—recognized as the largest and most successful disease prevention system in the US—is the practice of testing every newborn for certain harmful or potentially fatal conditions that are not otherwise apparent at birth. Although such disorders are usually relatively rare, together they affect over 14,000 newborns each year in the US. Many of the disorders screened for are considered time-critical—meaning they pose a significant health risk to newborns within days of birth—so early detection is crucial to prevent death or a lifetime of severe health problems.

Newborn screening is mandatory in all US states and territories, and takes place before the newborn leaves the birth facility.

Public health laboratories screen nearly four million newborns born in the US each year, follow-up on actionable results and refer infants to clinical care for diagnosis and treatment as necessary. They play a vital role in ensuring that every newborn’s health is protected with timely, accurate screening.

Newborn screening is comprised of three different parts:

  1. Dried blood spot screening (identifies heritable disorders)
  2. Hearing screening
  3. Critical congenital heart disease screening.

Public health laboratories conduct screenings on dried blood spots.

Newborn screening programs are state- or territory-based, so variations exist between programs in the number of disorders screened and the number of routine specimens collected from each newborn.

While states determine which disorders to screen, federal guidance is provided by the US Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children, and includes the Recommended Uniform Screening Panel (RUSP).

Occasionally, states may add disorders through legislative routes motivated by parents, disorder advocates and/or specialists, researchers and clinicians. These disorders can be unique to certain states’ screening panels and may not necessarily be screened nationally.

View a list of disorders screened by each state

What APHL Does

Supporting a Responsive Laboratory System

APHL works to ensure every baby has a chance at a healthier future by providing resources, guidance and support to newborn screening laboratories so they can identify conditions before the onset of symptoms and providing timely follow-up and treatment. Below are just a few ways we bring this vision to life.

NewSTEPs Data Repository and Resource Library

APHL administers the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), funded through a cooperative agreement by the Genetic Services Branch of the US Health Resources and Services Administration (HRSA), which provides quality improvement initiatives, an innovative data repository and technical resources for newborn screening programs. 

Visit the NewSTEPs Website
Resources, Training and Events

APHL produces a host of resources on newborn screening topics, hosts an annual Newborn Screening Symposium and several regularly scheduled workshops on laboratory training and follow-up.

Explore our resources, trainings and events
Legal and Legislative Issue Tracking

APHL collaborates with state newborn screening programs and legal counsels to monitor legal and legislative issues affecting state newborn screening programs.

Learn more about current legal issues
Technical Assistance

APHL offers technical assistance and training for newborn screening programs seeking expert guidance to implement enhancements within their programs.

Learn how to get support
Hear From Us

Communications and Publications

Get the Latest News

Visit the Newborn Screening and Genetics Newsletter page to read previous issues and subscribe.

Newborn Screening and Genetics Newsletter:

MARCH 2026

Stories From the Field

Read the latest stories about newborn screening laboratory science in action from APHL’s Blog and Lab Matters Magazine.

Lab Culture News article
10.14.25
Newborn Screening Symposium Keynote Speakers Stress Messaging, Resilience 
By Donna Campisano, specialist, Communications, APHL Telling stories that increase public health’s visibility and practicing mental fitness were two themes that ran through the 2025 APHL Newborn Screening Symposium keynote address. The symposium was...
Newborn Screening and Genetics
Lab Culture News article
09.05.17
Lab Culture Ep. 5: My Niece’s Positive Newborn Screen
Four years ago, as APHL joined with partners to celebrate the 50th anniversary of routine newborn screening in the United States, newborn screening hit more closely for APHL staff than it ever had before. Michelle Forman, manager of media and Lab...
Newborn Screening and Genetics
Lab Culture News article
04.09.19
Enhancing detection of newborn screening conditions via data analytics
For over 50 years, newborn screening programs across the United States have implemented laboratory screening and follow-up programs to detect and report infants at high risk for rare diseases. As we look towards the future, current testing challenges...
Newborn Screening and Genetics
Lab Culture News article
11.29.22
The promise of whole genome sequencing faces privacy concerns
By Melanie Padgett Powers, writer As technology continues to advance rapidly, the newborn screening community is having a robust conversation to address privacy concerns while still being able to advance the diagnosis of rare diseases that saves...
Newborn Screening and Genetics
Lab Culture News article
09.21.18
Improving newborn sickle cell screening in Africa: ‘We can affect change there just like we did in the US’
by Kim Krisberg In the US, nearly all children born with sickle cell disease survive into adulthood. Across the globe in sub-Saharan Africa, more than half of babies born with the genetic condition don’t survive until their fifth birthdays. A major...
Global Health, Newborn Screening and Genetics
Lab Culture News article
11.14.22
Sickle cell disease patients lack access to appropriate care after newborn screening and diagnosis
By Melanie Padgett Powers, writer Sickle cell disease (SCD) was first identified in 1910. In 1972, Congress recognized SCD as a significant public health concern, passing the National Sickle Cell Anemia Control Act to establish education, screening,...
Newborn Screening and Genetics
View All
Join Us

Events and Communities

Events and Meetings

We sponsor a variety of educational opportunities—from an annual symposium to webinars and workshops, presented live and then archived—that examine screening platforms and methodologies, clinical aspects of newborn screening disorders and related policy issues, among other topics. 

Visit the Newborn Screening Resources, Training and Events page for a list of our standing events, and the APHL Events Calendar for a list of all upcoming events and webinars.

infant foot with bandage from newborn screening heel prick
Oct
11
2026
Featured:
APHL 2026 Newborn Screening Symposium
The Newborn Screening Symposium addresses state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems.
Location
New Orleans, LA
Open To
All; Registration Required
Cost
Varies

APHL Committees

Learn more about the work APHL and our members are doing to propel newborn screening science forward, and how to join us:

  • Newborn Screening Committee
    The Newborn Screening Committee advises the Board and the Association on matters regarding newborn screening, and sponsors a number of subcommittees to address important issues in the field. Membership is open to all APHL members with an interest in newborn screening.

Find Your Community

APHL’s ColLABorate Online Communities provide an opportunity to connect with others working in the same field or with similar areas of interest. Email us to learn more about joining one of our communities:
  • NewSTEPs Community
    A forum for peer exchange about newborn screening, including topics such as laboratory practice, quality improvement, education and training, program evaluation and policy.