National Newborn Screening Awareness month is celebrated every September. Follow the timeline to see how NBS has become one of the most successful public health programs in the U.S. over the years.
Note: This timeline is best viewed on a desktop computer. Sources and landmark publications are listed below the timeline.
Since the NBS program was launched in the 1960s, every baby born in the U.S. could be screened for only handful of genetic diseases. Today, all 50 states use the blood spot test to check for at least 31 of the 35 core conditions listed on the Recommended Uniform Screening Panel (RUSP). Each state has the choice to provide additional screenings for the hundreds of childhood genetic diseases that have effective treatments. Unfortunately, conditions are added one-at-a-time on a state-by-state basis, making the process slow (5-6 years per condition), laborious and costly.
Efforts are underway to modernize newborn screening by aligning all states to screen for the same conditions, as well as expedite their implementation process. Additionally, genomic sequencing is able to provide diagnoses more rapidly than ever before for hundreds of treatable disorders; transformative cell and gene therapies can now be used to save more lives and improve healthcare outcomes.
Newborn screening (NBS) is a program to check babies for certain genetic, metabolic, hormonal and functional conditions that may be treatable, but are not often apparent at birth. Of nearly four million babies born annually in the United States, 98% are tested in the first two days of life and about one in 300 are found to have a treatable disorder.
There are three parts to newborn screening – a blood test and hearing and heart screenings. For the blood test or “heel stick,” a healthcare provider pricks the baby’s heel and places a few drops of blood onto an absorbent paper card that is sent to a lab for analysis. Results are returned to the baby’s provider and birth hospital. If the results are positive, then the parents are notified, the doctor orders additional testing to confirm the diagnosis, and the baby is referred to a specialist for the appropriate treatment.
More A Norwegian doctor, Asbjörn Fölling, discovers PKU, a rare, inherited disease that causes intellectual disability, seizures and deafness if left untreated in newborns. He develops the first test to verify PKU in untreated patients; their urine contains a chemical, phenylpyruvic acid, that turns green when mixed with ferric chloride.
More James Watson and Francis Crick, with assistance from Rosalind Franklin and Maurice Wilkins, discover the double helix structure of deoxyribonucleic acid (DNA).
More The wet diaper test for PKU is developed by Dr. Willard Centerwall from the Department of Pediatrics School of Medicine at the College of Medical Evangelists in Los Angeles, California.
More Recognized as the “Father of Newborn Screening,” Dr. Robert Guthrie knew first-hand the lifelong effects of PKU on patients and their families as his niece had the disease. He was a microbiologist at the State University of New York in Buffalo and pediatrician at the John R. Oishei Children’s Hospital when he developed what would be known as the “Guthrie test” – a simple and inexpensive blood spot test using dried filter paper, called a Guthrie card, to screen for PKU in newborns. If the blood sample from the baby’s heel stick contained enough Phe for a specific bacterium to grow, then a doctor could determine if the infant had PKU.
More A pilot study of 400,000+ infants in 29 states assesses the test’s suitability for a national screening program through public health departments. By the time the trial ends in 1963, the Bureau adopts the slogan, “Test Every Newborn For PKU” and many states have begun screening programs for PKU.
President Kennedy’s Presidential Advisory Commission on Mental Retardation hires the Advertising Council to run a national ad campaign advocating the PKU test “for all babies everywhere” and urging citizens to demand compulsory testing of all infants in states without legislation.
More Other states, including Oregon, Ohio, Maryland and New York soon follow, even though state medical societies and the American Medical Association oppose legislation requiring compulsory testing at this time. Publication: A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants
All but five make testing for PKU compulsory.
More This public health report, commissioned by the World Health Organization (WHO), is the first to identify criteria to guide the selection of conditions suitable for screening, based on the ability to detect the condition at an early stage and the availability of an acceptable treatment.
More Through the efforts of the Maternal and Child Health Bureau, the National Sickle Cell Anemia Control Act is passed. It leads to statewide support for screening programs for the disease and other genetic disorders that included education and family counseling.
90% of all newborns are being tested.
A scoring system for neonatal abstinence syndrome is devised and implemented as both a clinical and investigative tool. It provides a basis for developing uniform criteria for the assessment and treatment of the neonate born to the addicted mother.
Publication: Neonatal Abstinence Syndrome: Assessment and Management
More Frederick Sanger, a biochemist in England, develops a way to sequence long sections of DNA molecules. His first fully sequenced DNA-based genome, that of phiX174, a 5386 base-pair bacterial virus, earns him a Nobel Prize in Chemistry. “Sanger sequencing” was the most widely used technique for 25 years.
More The Center for Communicable Disease Prevention, now called the Centers for Disease Control and Prevention (CDC) begins the Newborn Screening Quality Assurance Program. This program ensured the accuracy of NBS test results and provided quality assurance services to 670+ NBS laboratories worldwide.
More The National Institutes of Health and Department of Energy publish a 15-year plan on mapping the human genome and determining the sequence of all its 3.2 billion letters; mapping and sequencing the genomes of other organisms important to the study of biology; and developing technology to analyze DNA.
Following a two-year analysis of genetic testing, labs and healthcare provider qualifications, a National Human Genome Research Institute task force publishes their report stating that “genetic testing in the U.S. has developed successfully, providing options for avoiding, preventing and treating inherited disorders.”
Publication: Promoting Safe and Effective Genetic Testing in the United States
More The Maternal and Child Health Bureau collaborates with the American Academy of Pediatrics (AAP) to form a national Task Force on Newborn Screening. It recommends that NBS be a part of public health agencies that involve health professionals, families and the public in the oversight of NBS.
More The Maternal and Child Health Bureau commissions the American College of Medical Genetics (ACMG) to develop standardized guidelines for NBS. ACMG evaluates 81 conditions and places 29 in a core screening panel, which become the original Recommended Universal Screening Panel (RUSP), and another 25 to a secondary level.
The majority of states (46) screen for only six disorders.
More The International Human Genome Sequencing Consortium announces the successful completion of the Human Genome Project, two years ahead of schedule; however, it only covers about 92% of the total human genome due to sequencing gaps.
More ACHDNC is formed under the Public Health Service Act 2000 to advise the U.S. Department of Health and Human Services (HHS) on NBS. It is comprised of experts in ethics and heritable disorders who work closely with the ACMG toward developing the RUSP as a uniform standard for the U.S.
More ACMG submits the report, “Newborn Screening: Toward a Uniform Panel and System” commissioned by ACHDNC recommending the adoption of a Core Condition Panel of 29 conditions, and 25 more conditions as secondary targets, for the RUSP for all state NBS programs. The executive summary was published in Pediatrics in 2006.
More Illumina launched the Genome Analyzer showcasing its Sequencing by Synthesis (SBS) chemistry and increased output capability, forever changing how sequencing is done.
Only 10 states and the District of Columbia require infants to be screened for ALL 29 of the recommended disorders.
Congress passes the Newborn Screening Saves Lives Act of 2007 (P.L. 110-204), which establishes national newborn screening guidelines and helps facilitate comprehensive newborn screening in every state. It includes key provisions such as the establishment of Baby’s First Test and a program to regulate the quality of labs that process NBS tests.
More The RUSP is a standardized list of disorders, supported by the ACHDNC and recommended by the HHS, for states to screen as part of their state universal NBS programs. Disorders are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments.
More The goal of the 1000 Genomes Project was to develop a comprehensive, open resource of human genetic variation across worldwide populations. A collection of related articles was published in Nature.
All 50 states start testing for at least 26 disorders.
More Congress reauthorizes the Act for the first time (P.L. 113-240) to expedite the screening process and train healthcare professionals on how to share results with families; parental consent is now required before residual dried blood spots from NBS can be used in research.
RUSP includes 34 core conditions and 26 secondary conditions.
More This Act (S.2158/H.R.2507) reauthorizes state grants to expand and improve screening programs, provide educational resources to parents and healthcare providers, improve follow-up care for infants with a detected condition, and ensure that every infant is screened for conditions that have a known treatment according to the RUSP.
All 50 states and the District of Columbia require screening for at least 31 out of 35 treatable conditions.
More This bill was passed by the House (H.R. 482), but the Senate did not vote on its companion bill (S.350). Efforts are underway to include it in the 2022 Federal budget package. It would align statutory requirements for research on non-identified newborn blood spots with federal regulations governing research on human subjects.
More The survey explored, “What are the implications for the National Health Service and society of using whole genome sequencing for newborn screening?”
Publication: Implications of Whole Genome Sequencing for Newborn Screening – A Public Dialogue
More Researchers finish a complete, gap-free sequencing of 3B+ bases (or letters) of DNA within the human genome with the help of new technology. More than 2M letters of the genetic code were added. This is essential for understanding human genomic variation and the genetic contributions to certain diseases.
RCIGM launches BeginNGS, a novel program to advance and evaluate the scalability of a diagnostic and precision medicine guidance tool to screen newborns for approximately 400 genetic diseases that have known treatment options using rapid Whole Genome Sequencing (rWGS®). The program was described in the American Journal of Human Genetics.
Publication: A Genome Sequencing System for Universal Newborn Screening, Diagnosis, and Precision Medicine for Severe Genetic Diseases
More Recognizing that researchers around the globe had been independently studying the implementation of newborn sequencing, a group of leaders in the field convened ICoNS to accelerate that process. The group bring together world-class experts to share knowledge, research plans, and results from the original eight studies in newborn sequencing. The first ICoNS conference is held in November 2022. RCIGM President and CEO Stephen Kingsmore joins the ICoNS steering committee on behalf of BeginNGS.
|1934||The Guthrie Test: How Did It All Begin? | Museum of Disabilities|
|1934, 1960||Phenylketonuria (PKU) and Newborn Screening | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development|
|1957||AJPH: Phenylketonuria: Screening Programs And Testing Methods|
|1960||Guthrie Symposium brings together researchers, families to discuss advances in newborn screening – University at Buffalo|
|1960, 1961, 1962, 1963, 1975||Final Report of the Task Force on Genetic Testing|
|1961||The test for PKU – UB Reporter|
|1963||APHL: A Brief History of Newborn Screening|
|1965||The Political History of PKU: Reflections on 50 Years of Newborn Screening | Pediatrics|
|1968||Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years | Bulletin World Health Organization|
|1972||American Journal of Pediatric Hematology/Oncology: Legislation and funding for sickle cell services, 1972-1982|
|1975||Addictive Diseases: Neonatal abstinence syndrome: assessment and management|
|1978||Newborn Screening Quality Assurance Program (NSQAP)|
|1990||The Newborn Screening Story: How One Simple Test Changed Lives, Science, and Health in America|
|1997||Task Force Makes Final Recommendations on – U.S. Genetic Testing|
|1999||Pediatrics: American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come?|
|1999, 2003, 2014, 2019||History of the ACHDNC | HRSA|
|2002, 2003, 2005, 2011, 2016||Brief History of Newborn Screening | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development|
|2003||As Advancements In Treatment Drive A Newborn Screening Evolution, Will States And The Federal Government Be Able To Keep Up? | Health Affairs|
|2005||Newborn Screening: Toward a Uniform Screening Panel And System|
|2005||Pediatrics: Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary|
|2008||PUBLIC LAW 110–204—APR. 24, 2008|
|2010||Recommended Uniform Screening Panel | HRSA|
|2021||H.R.482 – 117th Congress (2021-2022): Newborn Screening Saves Lives Reauthorization Act of 2021 | Congress.gov | Library of Congress|
|2021||Newborn Screening – Newborn Screening Saves Lives Reauthorization Act – EveryLife Foundation for Rare Diseases|
|2021||Publication: Pediatrics: Expert Evaluation of Strategies to Modernize Newborn Screening in the United States|
|2021||Publication: Implications of whole genome sequencing for newborn screening|
|2022||BeginNGS | RCIGM|