By Melanie Padgett Powers, writer Newborn screening is known primarily as the heel stick a newborn gets to test their blood for certain genetic diseases. But that simple description understates the profound effect newborn screening has had on families, as public health celebrates 60 years since the beginning of routine newborn screening in the US. “Newborn screening is one of the major achievements in the history of medicine, in public health,” said Maurizio Scarpa, MD, PhD, director of the Regional Coordinating Center for Rare Diseases of the European Reference Network for Hereditary Metabol ..read more

By Melanie Padgett Powers, writer Over the past 60 years, newborn screening has led to early diagnoses and treatments for millions of babies with genetic health conditions, saving and improving lives. However, the existence of newborn screening programs around the world is not equal. Globally, nearly 40 million babies are screened annually, but that’s only about 28% of infants born every year, said James Bonham, MSc, PhD, CSci, FRCPath, president of the International Society for Neonatal Screening (ISNS) during the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, California ..read more

For Immediate Release Sacramento, CA, October 19, 2023 – At the 2023 Association of Public Health Laboratories (APHL)/ International Society for Neonatal Screening (ISNS) Newborn Screening Symposium, APHL presented awards to leaders in the field of newborn screening. Additionally, ISNS honored those from around the globe for their commitment to the field of newborn screening. The winners were announced during a ceremony on Wednesday, October 18. Congratulations to all award winners! The following APHL awards were presented: The George Cunningham Visionary Award in Newborn Screening ..read more

By Melanie Padgett Powers, writer Elizabeth Whyte and her husband were living in Dubai, United Arab Emirates, when their first child, Henry, was born. A colleague told Whyte she would be asked if she wanted the heel prick “extra test” and that she would need to pay for it. Whyte consented to this newborn screening, but she wasn’t really sure what it was for. About five days after Henry was born, when the family was back home, the hospital called to let Whyte know that one of her baby’s results “was out of range.” She was told she needed to bring in Henry for a repeat test. The second test was ..read more

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 babies’ lives. Speakers during the session “The Next Frontier of Genetics and Privacy: Newborn Screening at the Intersection,” during the APHL 2022 Newborn Screening Symposium in October, specifically addressed whole genome sequencing (WGS), which could be the next step for newborn screening programs. Newborn screening programs exist in all 50 states ..read more

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, testing, counseling, research and treatment programs. Despite that, it wasn’t until 1998 for the first treatment, a medication called hydroxyurea, to be approved in the US. “That’s relatively appalling. Almost no other disorders in the room have that kind of tragic history,” said Julie Kanter, MD, director of the adult SCD program at the Universit ..read more

For Immediate Release Tacoma, WA, October 19, 2022 – At the Association of Public Health Laboratories (APHL) 2022 Newborn Screening Symposium, APHL presented awards to six leaders in the field of newborn screening. “Through their work, all recipients have directly improved the quality of life of newborns and their families,” said Scott J. Becker, MS, chief executive officer, APHL. “We commend the exceptional and innovative work of all those who were nominated.” The following awards were presented in a ceremony during the Symposium today in Tacoma, WA: The George Cunningham Visionary Award in ..read more

By Melanie Padgett Powers, writer At six weeks old in the early 1970s, Kendra Hogenson was adopted. But her new parents quickly realized that instead of cooing and wiggling around, all their baby did was cry and beat her head against the wall. They had no idea what was wrong with their daughter and took her from doctor to doctor seeking help. As Hogenson, now age 51, told her story as part of the Parent/Patient Panel during the APHL 2022 Newborn Screening Symposium in October, she began to cry. “One doctor even said, ‘put her away in an institution; she’ll never amount to anything,’” she reca ..read more

By Melanie Padgett Powers, writer Every year in the US, nearly 4 million babies receive newborn screening for a variety of health conditions within the first 24–48 hours of birth. Newborn screening was developed almost 60 years ago on the basis of equality—screening all babies for the same conditions. However, public health professionals recognize that disparities exist across the newborn screening system. A panel of experts outlined these disparities and recommended actions that public health laboratories can take to improve the system, during the 2022 APHL Annual Conference May 18 sess ..read more

Silver Spring, MD, January 18, 2022 – The Association of Public Health Laboratories (APHL) is pleased to announce the recipients of the fourth cohort of the Newborn Screening Systems Quality Improvement (QI) Projects award. Since its inception in 2019, and with the addition of this fourth cohort, the Newborn Screening Systems Quality Improvement Projects has supported a total of 33 project teams across 26 US state and territorial newborn screening programs and agencies. Funded through a cooperative agreement with the Health Resources and Services Administration (HRSA), these awards provide fu ..read more