Newborn screening ‘ecosystem’ continues to improve

Maurizio Scarpa, MD, PhD, director of the Regional Coordinating Center for Rare Diseases of the European Reference Network for Hereditary Metabolic Diseases at Udine University Hospital in Udine, Italy, stands at the podium.

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 Metabolic Diseases at Udine University Hospital in Udine, Italy. “The diagnosis of an asymptomatic child allows the choice of the best care and the best treatment. Newborn screening is indeed the way to go for a treatable disorder in order to limit the progression of the disease or the effect of the disease.”

Scarpa was one of four speakers at the 2023 APHL/ISNS Newborn Screening Symposium keynote session, “60 Years of Screening: A Time to Celebrate and a Time to Reflect,” in Sacramento, California in October. The keynote speakers examined newborn screening in a SWOT analysis framework—looking at the program’s strengths, weaknesses, opportunities and threats.

Newborn screening was created in 1963, after Robert Guthrie, MD, PhD, developed a blood test to screen for phenylketonuria (PKU) in New York. When discovered early, PKU can be treated with a lifelong specific diet and special nutritional supplement. Without treatment, children can develop permanent intellectual disabilities.

In the past 60 years, more than 750 million babies have been screened for PKU, Scarpa said, with 60,000 cases identified and treated. “An entire football arena can be filled up with all the children saved by [PKU] newborn screening,” he said.

Now PKU is one of more than 30 conditions recommended for US states to screen as part of their routine newborn screening programs. Most laboratory testing that supports state newborn screening programs is conducted by a public health laboratory.

Technological advancements in newborn screening

Newborn screening is so much more than that heel stick, said Jerry Vockley, MD, PhD, of the University of Pittsburgh Schools of Medicine and Public Health. Vockley maintained that the program is more of an “ecosystem.”

“It’s not just the test. It’s not just the follow-up. It’s not just the treatment,” Vockley said. “It’s actually a whole system of pieces that need to be in place for this to be successful.” This includes collaborations with multiple stakeholders, including patients, parents and regulatory agencies.

But as technology advances, the testing process is becoming more convoluted. Now, the addition of next-generation sequencing—which includes whole exome sequencing and whole genome sequencing—allows laboratories to examine the genetic information in a person’s DNA in a much shorter time. This is not a routine part of newborn screening, as laboratory professionals are still learning how to interpret and analyze results with this newer technology.

DNA sequencing can be helpful as a secondary test—after the initial newborn screening heel prick—to determine whether a screening was truly positive for a disease or whether it was a false positive, said Robert L. Nussbaum, MD, chief medical officer at Invitae, a genetic testing company.

In a true positive test, when biomarkers are ambiguous, DNA sequencing can help narrow down the diagnosis and determine what condition the newborn has, Nussbaum said. He cited a study that showed that DNA sequencing was helpful in determining whether there was an unknown genetic explanation for newborns struggling in neonatal intensive care units.

Another new technology that could benefit newborn screening is artificial intelligence, Scarpa said. “I think newborn screening should … start thinking about how to use artificial intelligence so newborn screening can be efficient, valid and with equity and equality for all the newborns that are tested.”

He pointed to one study with data from thousands of newborns in which computer algorithms were able to decrease the false positive rate of metabolic disorders by 25%. “We can indeed create algorithms that can help us in making our newborn screening even more precise, sensible and with an even bigger sensitivity to what we have now.”

However, he added, “We need to do this in a very passionate way, but in a very organized way. … But I think that this is a way that we cannot ignore, and we need to be prepared in order to add this kind of technology.”

Gene editing to cure sickle cell disease

Another advancement connected to newborn screening is gene editing to cure disease. Sickle cell disease (SCD) is one of the conditions included in newborn screening in all US states and territories. SCD is the most common inherited clinically significant blood disease in the country. It affects one in 400 African American newborns in the US.

The SCD survival rate to adulthood has improved significantly, thanks largely to the newborn screening process that detects SCD in the first week of a baby’s life. However, SCD can be incredibly painful and damage multiple organs.

Haydar Frangoul, MD, MS, shared how his team has successfully used CRISPR/Cas9 gene-editing technology to cure patients with SCD. He is the medical director of pediatric hematology/oncology at Sarah Cannon Pediatric Transplant and Cellular Therapy Program at TriStar Centennial in Nashville, Tennessee.

“Gene editing tools allow scientists to make very precise changes in the DNA,” Frangoul explained. “These tools allow genetic material to be disrupted, deleted, corrected or inserted at a precise location.”

Frangoul’s team is using gene editing to increase fetal hemoglobin. Before birth, a fetus’ hemoglobin is 95% fetal hemoglobin, he explained. These babies are born seemingly without SCD; their SCD symptoms arise only after their fetal hemoglobin is replaced by hemoglobin A a few months after birth. Previous studies have shown that those with SCD who also had higher rates of fetal hemoglobin as they aged—known as hereditary persistence of fetal hemoglobin—had less severe SCD symptoms.

Therefore, in the CLIMB SCD-121 trial, Frangoul and his team “basically turn patients with sickle cell disease into patients with hereditary persistence of fetal hemoglobin,” he said. To do the gene editing, the researchers collect a patient’s stem cells and “shock the cells” allowing CRISPR/Cas9 to enter. “I think the little kids really get a kick out of it when I say I’m going to electrocute their cells to fix them,” Frangoul said.

CRISPR/Cas9 breaks the DNA at the location needed. The patients undergo chemotherapy to destroy their bone marrow before the gene-edited cells are infused into them.

In the CLIMB SCD-121 trial, Frangoul’s team is using gene editing to decrease the BC11A gene. That suppression increases the production of gamma globin antibodies and increases fetal hemoglobin. The multicenter international trial started over four years ago. So far, 35 patients, ages 12 to 35, have undergone the gene editing. Before the treatment, the median number of vaso-occlusive crises—when SCD pain and other symptoms worsen—ranged from four to five per year. After the treatment, up to three years later, 94% of the patients had not had a SCD crisis or complication, and none of the patients were admitted to a hospital.

The ongoing impact of newborn screening

Gene editing to cure diseases, DNA sequencing to discover the cause of mystery illnesses, and artificial intelligence to improve screening results: all of these extraordinary promises of medical diagnosis and treatment would not have been possible without the creation of newborn screening 60 years ago.

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

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Advocates work to expand newborn screening worldwide

One person speaks at a podium during the 2023 APHL/ISNS Newborn Screening Symposium while another panelist sits and listens.

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, in October.

“There is much to celebrate after 60 years, but much to do after 60 years,” said Bonham, who led off the two-part half-day session, “The Development of Newborn Screening in Low- and Middle-Income Countries.”

While mortality rates for children under five have improved substantially over the past 20 years, death from birth defects for children under five has increased, now a cause of about 20% of the deaths in these young children, according to Bonham. That fact led the World Health Organization to convene an assembly in 2010 on birth defects, recognizing that primary prevention of childhood disease was going to be crucial to decrease infant mortality and under five mortality.

That goal “is really a platform for newborn screening, not just biochemical newborn screening as we see it now, but the wider concept of checking a baby out shortly after birth,” Bonham said.

In 2021, the International Federation of Clinical Chemistry and Laboratory Medicine, partnering with ISNS, created the Global Task Force on Newborn Screening, of which Bonham is co-chair. APHL is also involved in the efforts, which aim to help develop appropriate screening programs worldwide, including in low- and middle-income countries.

“I really do emphasize the word ‘appropriate,’” Bonham said. “We’re not inflicting high-tech programs on countries where that would make little practical benefit for the children. We’re finding out what is really needed and then attempting to support that.”

The task force established objective selection criteria to choose the countries to reach out to first. In early 2023, task force representatives visited the first three countries: South Africa, Dominican Republic and Romania.

Setting up screening in the Dominican Republic

In the Dominican Republic, newborn screening is only offered through private labs and occasionally through private insurance. There is no organizational support and no data on follow-up or the number of conditions discovered, said Van Leung-Pineda, PhD, DABCC, FAACC, director of clinical chemistry and clinical mass spectrometry at Children’s Healthcare of Atlanta. Leung-Pineda, who is originally from Panama, was part of the team that traveled to the Dominican Republic.

The Dominican Republic has a population of about 11 million people, with 170,000 to 200,000 births each year. It is designated as one of 20 countries in Latin America with mid to high revenues. However, it has an insufficient investment in public health, Leung-Pineda said.

The country had already achieved several steps along the way to create a national newborn screening program. Local leaders had completed a feasibility study and proposed starting with six disorders. Four maternity units were selected to start the program, and a media awareness campaign was launched. Primary goals were established, a site was selected to build a laboratory and clinical protocols for follow-up were developed, Leung-Pineda said. But all that came to a halt when the COVID-19 pandemic hit in 2020.

While the task force has lent its expertise and assistance, working with local champions and gaining federal support have been key to moving the program along, he said. A federal bill that had passed one of the two houses of Congress of the Dominican Republic in 2014 had expired. But since the task force’s visit in February 2023, local advocates were able to get a new bill introduced, which passed the Senate and is now awaiting review in the other house, the Chamber of Deputies. The health minister—with whom the task force met—has also received approval for funds from the World Bank. And the laboratory construction is underway.

Learning from a growing program in India

Lessons learned were also shared from a program already underway in the state of Kerala in India. Newborn screening began in Kerala with metabolic screening in 2012; hearing screening was added in 2014 and nurse screening of visible birth defects was added in 2016. In 2018, the Kerala program became the first in India to add universal pulse oximetry screening. That same year, all these programs were brought under the umbrella of a new newborn screening program  called Shalabham, which means “butterflies,” said Sreehari Madhavankutty Nair, PGD DN, PGD QM, MBA, medical officer in the Department of Health Services in Thiruvananthapuram, Kerala.

Because guidelines recommend women stay in the hospital after birth for 48 hours, the local newborn screening team focused on that time frame, Nair said. Visible birth defects are confirmed in the hospital within 24 hours, and pulse oximetry is confirmed in the hospital within 24-48 hours. Hearing results are sent to the nearest audiology center, while infant heel pricks are done within 48 hours and the dried blood spots are sent to a nearby laboratory.

However, the health department noticed there were several delays in the pipeline: Sometimes samples were kept too long in the hospital before being sent to the laboratory, while other times there was a delay in notifying the parents of results recommending they return for more testing.

Sample quality was another challenge, Nair said. Up to 12% of samples from some hospitals were rejected by the laboratory. New samples were needed, but when patients were recalled to collect a new sample, fewer than 20% returned to the hospital.

To improve the issues, the health department updated the processes and systems to reduce delays, retrained staff on procedures and the importance of timeliness, and added more nurses to the program.

These challenges were discovered due to the collection of appropriate data. The program developed an Android app that allows staff to easily capture and report data. “When we started looking at visible birth defect screening, there was around 150 different clinical conditions that were going to be screened by the nurses,” Nair explained. “It was really challenging for them to learn all these names with the correct spelling.” But the app now allows them to simply tap on an image of a child, in the appropriate area of the body, and various conditions and information pop up.

The app and its accompanying dashboard are “very useful for the program managers, to see how the system is moving, if there is a derailment that can be adjusted at the earliest point,” Nair said.

The team also updated its parent education, explaining in the hospital why the screening was so important and why it was important to return if notified. “Sometimes parents are not aware of why the sample is taken, and that is the reason why they don’t come back,” Nair said. Beyond that, the team updated the app to text parents when they need to return with their baby for follow-up. The app also texts results to the baby’s doctor, who can notify the parents directly.

Adopting appropriate technology for the community has been critical to the program, Nair said. Another key component has been establishing linkages with other systems in place and with the community nurses. “The processes should align with the existing health system,” he said. “Otherwise, it’s going to be an additional burden to the people who are managing it.”

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

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Building global capacity to handle disease threats

Course Instructor provides an overview of cabinet features during hands-on session during a biological safety cabinet certification training in Tanzania.

In June 2023, 15 professionals from Cambodia, Ghana, Kenya, Tanzania, Uganda and Yemen gathered at Tanzania’s National Public Health Laboratory in Dar es Salaam with one common goal: to gain an understanding in certifying biological safety cabinets. Proper certification to verify that biological safety cabinets function as designed by the manufacturer is vital to a laboratory’s capacity to safely handle infectious materials, a need that is only amplified during disease outbreaks. The four-day course was packed with demonstrations, discussions and measurement practice.

A biological safety cabinet is a specialized type of laboratory equipment that provides a clean work environment and protects laboratory staff when working with infectious agents or toxins. Biological safety cabinets have high-efficiency particulate air (HEPA) filters that trap biohazards and ensure that only microbe-free exhaust air is discharged from the cabinet. They provide important protections but must be properly maintained.

Prior to 2022, pursuing biological safety cabinet certification training required travel to North America or scheduling visits from North American experts. Recognizing the unsustainable nature of this arrangement, APHL partnered with the US Centers for Disease Control and Prevention (CDC), subject matter experts and Muhimbili University of Health and Allied Science (MUHAS) in Dar es Salaam to create and launch a three-week online course followed by in-person hands-on practice at the Tanzania National Public Health Laboratory.

This course is taught by MUHAS instructors who are mentored and coached by the course developer, a subject matter expert from Thermo Fisher Scientific. The course prepares participants to complete the NSF Basic Accreditation testing.

Professionals attending the course this summer were only the second cohort to go through the training program, and almost all came from the public sector. Of the 15 course participants, 11 stayed on immediately following the hands-on portion to complete the three-day NSF accreditation testing. Those who pass NSF’s written and seven practical tests will be listed as NSF-accredited certifiers. Thanks to ongoing collaboration with APHL and partners, MUHAS intends to offer the course and bring NSF to Tanzania every summer, which will continue to build global capacity for handling disease threats.

Click through this slideshow to see photos from the training:

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First Ukrainian cohort of the Global Laboratory Leadership Programme is underway

Members of the first Ukrainian cohort of the Global Laboratory Leadership Programme pose together for a photo.

In June 2023, the first Ukrainian cohort began the Global Laboratory Leadership Programme (GLLP), a comprehensive competency-based systems-focused laboratory leadership program. Twelve participants and seven national mentors representing human health, animal health and food safety sectors traveled from Ukraine to Krakow, Poland where they engaged in learning sessions on general management, financial management, human resource management, laboratory information systems and quality management systems.

The GLLP was developed by six international partners: APHL, the US Centers for Disease Control and Prevention (CDC), the European Centre for Disease Prevention and Control, the Food and Agricultural Organization of the United Nations, the World Health Organization (WHO) and the World Organization of Animal Health. The first laboratory leadership program to emphasize a One Health approach, the GLLP combines classroom learning, project-based learning and mentorship as well as the development of a community of practice.

During this cohort’s first workshop, learning sessions were presented by a team of international experts; national mentors attended all program sessions which will allow Ukraine to build a cadre of instructors able to facilitate subsequent GLLP offerings. Each participant was assigned a mentor and together they worked to identify and complete projects based on the workshop session topics.

Despite the on-going challenges caused by the war in Ukraine, the energy and enthusiasm exhibited during the workshop was infectious. Current wartime restrictions prohibit Ukrainian men from leaving the country, so this first cohort included only female participants all of whom exhibited the qualities and characteristics essential for strong leaders.

The second workshop for this cohort was held from September 11-22 in Warsaw, Poland. Between the June and September workshops, the participants began to develop and implement on-the-job projects supporting their laboratory’s human resource capacity or laboratory quality systems. Participants also began developing their capstone projects and will work toward implementation upon conclusion of the program in September 2024. In addition, the GLLP mentors met with participants to provide guidance and support. This cohort will attend two more workshops: one December 2023 and the last in March 2024.

APHL is excited to support this GLLP Ukraine cohort. We are especially eager to see the advancement and accomplishments of these emerging leaders of Ukraine’s laboratory system.

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APHL and ISNS Honor 2023 Newborn Screening Award Winners

Group photo of all 2023 APHL Newborn Screening Award winners posing with their awards.

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 is given to someone who has made the greatest contribution to expanding or improving the screening of newborns by public health agencies in one or more states. This year’s award recipient is:

  • Rachel Lee, PhD, medical screening unit director, Laboratory Services Section, Texas Department of State Health Services

The Judi Tuerck Newborn Screening Follow-up and Education Award honors someone who has made significant and outstanding contributions in one or more of the following areas: enhancing the caliber of the newborn screening system; improving follow-up and education; developing creative short term follow-up strategies that significantly reduce the time to diagnosis and treatment of affected infants; developing or enhancing long term follow-up strategies; establishing novel approaches or methods for managing the integration of new technologies in newborn screening; translating novel approaches or methods into best practices or guidelines for follow-up and education; providing innovative newborn screening follow-up training/education for best practices; or improving practices to ensure timely detection, reporting, intervention and treatment for newborns detected with disorders/conditions. This year’s award recipient is:

  • Carol Johnson, newborn screening follow-up coordinator, Iowa Newborn Screening Program, State Hygienic Laboratory at the University of Iowa

The Everyday Life Saver Award in Newborn Screening highlights the meaningful, ongoing ways the recipient contributes to the morale of their team and/or operations of their program on a daily basis. This year there are two recipients:

  • Kimberly Blake, newborn screening manager, North Carolina State Laboratory of Public Health
  • Ron Hardy, owner (retired), Central Delivery Services of Iowa

The Harry Hannon Laboratory Improvement Award in Newborn Screening award honors someone who has made significant contributions in one or more of the following areas: assuring the quality of testing, enhancing the specificity of tests, establishing new creative laboratory approaches and technologies, providing laboratory training/education for new technologies and tests, or improving the detection of newborn disorders/conditions. This year’s recipient is:

  • Patrick Hopkins, newborn screening project specialist, Missouri State Public Health Laboratory

The Clinician Champion Award honors someone involved in patient care and who has made significant contributions in one or more of the following areas: ensuring newborns receive adequate screening and appropriate follow-up; assuring timely and effective communication of screening results to patients and families; and contributing to efforts to strengthen the impact of the public health newborn screening system by being directly involved in follow-up care, community affairs, newborn screening advocacy and/or community activities. This year there are two recipients:

  • Philip Farrell, MD/PhD, emeritus dean and professor, Departments of Pediatrics and Population Health Sciences, UW School of Medicine and Public Health
  • Paul Levy, MD, director, Inherited Metabolic Disease Specialty Care Center, Montefiore Medical Center

The Achievements in Public Health Informatics Award honors a person working in any aspect of newborn screening worldwide and has made significant contributions in one or more of the following areas: enhancing implementation practices for electronic messaging; developing strategies for achieving effective data management; improving laboratory capability for health information data exchange; or providing new and creative approaches to communicate findings through data visualization. This year’s recipient is:

  • Craig Newman, PhD, Public Health Interoperability Subject Matter Expert, Altarum Institute

The ISNS awardees are:

The Robert Guthrie Award is given annually to honour a member of ISNS who has made an outstanding contribution to newborn or other population-based screening which is recognized as such worldwide. The awardees are:

  • 2019 Awardee: R. Rodney Howell, MD, FAAP, FACMG; Professor and Chairman of Pediatrics, Emeritus; Emeritus Member, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine
  • 2020 Awardee: Georg F. Hoffmann, MD, Univ.-Prof. Dr. med., Prof. h.c. mult. (RCH); Chairman/Department of Pediatrics, University of Heidelberg
  • 2021 Awardee: Joanne Mei, PhD; Chief, Newborn Screening Quality Assurance Program, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention
  • 2022 Awardee: Michael Gelb, PhD; Professor and Boris and Barbara L. Weinstein Endowed Chair in Chemistry; Adjunct Professor of Biochemistry, Department of Chemistry, University of Washington

The Jean Dussault Medal for young investigators is given annually to honour a member of ISNS who has made a significant contribution to neonatal or other population-based screening which is recognized as such. The awardees are:

  • 2019 Awardee: Stephan Borte, MD, PhD; Head of Department of Laboratory Medicine, Hospital St. Georg Leipzig
  • 2020 Awardee: Francyne Kubaski, MSc, PhD; Staff Scientist, Biochemical Genetics Laboratory, Greenwood Genetic Center
  • 2021 Awardee: Ulrike Mütze, MD; Metabolic Pediatrician, PI Long-term outcome metabolic newborn screening; Metabolic Center Heidelberg, Metabolic Laboratory, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital
  • 2022 Awardee: Amy M. Gaviglio, MS, CGC; Genetics and Public Health Consultant, Connetics Consulting

The Gerard Loeber Award for Contributions to Newborn Screening Expansion in Developing Countries (NBS Development Award) is given every third year at the occasion of the ISNS international symposium. The awardee is:

  • 2023 Awardee: Kate Armstrong, DrPH, B Med, DCH, MPH, FAFPHM; President and Founder, Caring & Living as Neighbors (CLAN)

APHL and ISNS congratulate all award winners, and we thank them for their contributions to advancing the essential work of newborn screening.

Learn more about the APHL/ISNS Newborn Screening Symposium.

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The Association of Public Health Laboratories (APHL) works to strengthen laboratory systems serving the public’s health in the US and globally. APHL’s member laboratories protect the public’s health by monitoring and detecting infectious and foodborne diseases, environmental contaminants, terrorist agents, genetic disorders in newborns and other diverse health threats. Learn more at www.aphl.org.

Contact Michelle Forman at 240-485-2793 or michelle.forman@aphl.org

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Families share their stories with newborn screening

Photo of the Parent/Patient Panel at the 2023 APHL/ISNS Newborn Screening Symposium.

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 negative, so she was ready to move on. But friends in the UK encouraged her to get follow-up testing. So, the couple sent a sample of Henry’s blood to a laboratory in Germany.

Henry tested positive for glutaric aciduria type 1 (GA-1), a genetic disease in which the body can’t break down certain amino acids, the building blocks of proteins. People with the disease need to follow a strict low-protein diet to prevent a metabolic crisis.

Whyte shared her family’s story by video during the Parent/Patient Panel at the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, California, in October. The event celebrated 60 years since the beginning of routine newborn screening in the US.

The case of Henry, who is now a first grader, illustrates the benefits of newborn screening but also several challenges, including the different testing regimens from country to country—and in the US, from state to state—as well as the scattered education and awareness of newborn screening. In fact, this life-changing intervention is not yet available to more than 100 million babies born annually in low- and middle-income countries.

Whyte consented to screening for her newborn primarily because a colleague told her about it, and she followed up with testing because trusted friends and family in the UK encouraged her to. She and her husband were able to find a consultant in Dubai for Henry, but it was one person, not a team. Plus, it was difficult in Dubai to access the medication and special formula Henry needed.

The family decided to move back to England for Henry’s medical care. In 2020, they had another son, Jude. They waited to test him for GA-1 until after he was born. He too tested positive for GA-1, although his concurrent regular newborn screening showed a false negative for GA-1.

“It obviously posed a lot of questions,” Whyte said. “What would have happened if we hadn’t have had Henry in Dubai and been tested within the 48 hours, instead of that additional time that it is in the UK, which is from five days onwards?” Whyte said she understands that the screening in the UK is done later because of other conditions, but, she said, “I can’t help but feel that our outcome would likely have been very different should Henry not have been born in Dubai.”

Today, because of newborn screening, a special diet and access to treatment in the UK, Whyte said, “Both boys are doing fantastically. … We’re so grateful that we live in a time that we have the support and awareness of these metabolic conditions.”

Systematic parent education needed

In the US, newborn screening is often thought of as that heel prick, which takes a sample of the newborn’s blood for testing in a laboratory. But newborn screening also includes a heart screening and a hearing test.

Also on the panel was Michelle John, who shared her experience with her three children’s births. Her oldest, Tyson, was born deceased but revived after 17 minutes. After six weeks in a critical care facility, Michelle said he was sent home “to die.”

To this day, John has no idea if her son had a heel prick or heart test. But she was told, despite all his medical issues, that he had to have a required hearing test before he left the hospital. He failed the test, but a clinician told John that her baby probably just had fluid in his ears.

Later, an otolaryngologist (an ear, nose and throat doctor, commonly called an ENT) wasn’t sure if Tyson could hear. John got the sense that no one wanted to focus on Tyson’s hearing because he had so many other potentially fatal medical conditions. Finally, an audiologist took the issue seriously. Tyson was retested, and they learned he was Deafblind plus, which refers to people with vision and hearing loss as well as an intellectual impairment.

Tyson lived. He’s now 10 years old. John and her husband also have two other children: Trinity, age 7, and Lane, age 5. All three kids were born by Cesarean delivery in a non-critical care facility in New Hampshire.

“I have no idea if any of my children had newborn screening,” John said. “I know my oldest failed the hearing; I have no further information than that.” After her daughter was born, John was told at one point, “We’re going to take your daughter to check on her.” John assumed that meant newborn screening, but “she came back, no information was given, and I’ve never heard another word since.” The situation repeated itself after her youngest son was born.

Newborn screening “wasn’t brought up during [my obstetric] appointments. It wasn’t brought up after birth; it wasn’t brought up before going home. None of these things were discussed,” John told attendees.

“Somewhere along the line, something went a little wonky,” she said. Newborn screening needs to be explained to parents several times throughout the pregnancy and delivery, she stressed. “It’s not to scare them. … It’s just to be honest. … It’s critical that this becomes a natural part of the process. It has to be engrained, and it has to start long before the baby is born.

“I have three amazing kids. One is Deafblind plus. I’m here because of him, but I’m actually here to represent the fact that, especially in rural communities, information is maybe not quite as open as it needs to be. And it’s really critical that it becomes a lot more transparent with everyone involved.”

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

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2023 Public Health Laboratory Appreciation Month: Celebration Wrap-up and Art Contest Winners

Photos of all three art contest winning entries

While Public Health Laboratory Appreciation Month officially ended with September, our appreciation continues year-round. Thank you to everyone who shared their messages of thanks and recognition including local and state agencies, public health partners and so many individuals!

Microbe Masterpieces and Chemistry Creations Art Contest Winners

Thanks to QIAGEN for their continued support by sponsoring the 3rd Annual Microbe Masterpieces and Chemistry Creations Art Contest! All submissions are being showcased in a Facebook album so don’t miss it. And the winners are…

Public Health Laboratory Appreciation Month Highlights

Texas Department of State Health Services Laboratory leadership pose with Flat Labby!

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Lab Culture ep. 32: Dr. Bell and Dr. Yarosz love their CDC LLS fellowship experience. What is the LLS fellowship?

Graphic featuring photos of Dr. Courtnee Bell and Dr. Emily Yarosz.

What is the CDC Laboratory Leadership Service (LLS)? In this episode, we learn more about it from two current LLS fellows. Drs. Courtnee Bell and Emily Yarosz discuss how they learned about the fellowship, their experiences and where they see themselves when their fellowships end.

Links:

CDC Laboratory Leadership Service (LLS)
Virginia Division of Consolidated Laboratory Services (DCLS)
Minnesota Public Health Laboratory
Public Health Laboratory Fellowship Program: an APHL-CDC Initiative
APHL Blog

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APHL Receives PEPFAR Award to Strengthen Global Laboratory Response to HIV

Graphic with a quote that says, "This partnership marks a significant step forward in the collective laboratory efforts to combat HIV/AIDS and related diseases worldwide."

For Immediate Release

Silver Spring, MD, September 26, 2023—The Association of Public Health Laboratories (APHL) received an award through the US Centers for Disease Control and Prevention (CDC) and the President’s Emergency Plan for AIDS Relief (PEPFAR) to strengthen laboratory systems and services for timely, quality testing for HIV, tuberculosis and HIV-related diseases.

The cooperative agreement, which begins September 30, will strengthen the laboratory workforce and sustainable lab systems and services over five years. It will focus on lab informatics and data systems and help accelerate improvements in integrated diagnostic networks, the clinical-lab interface and public health preparedness and response.

“We are excited to begin this work that will close gaps in the global laboratory response to HIV,” said Scott J. Becker, MS, chief executive officer of APHL. “The award will help us leverage currently effective programs and assure access to quality laboratory systems and services. Through greater collaboration with leading partners in the field, we can better meet PEPFAR goals and control the global HIV/AIDS epidemic.”

APHL organized the Laboratory Improvement Partnership (LIP) to facilitate collaboration and maximize partners’ capabilities to effectively scale efforts toward PEPFAR goals. LIP unites highly proficient laboratory and clinical organizations with extensive experience in implementing PEPFAR laboratory initiatives. The partnership includes APHL, the American Society for Clinical Pathology, CRDF Global, US Pharmacopeia and the University of California San Francisco.

“This partnership marks a significant step forward in the collective laboratory efforts to combat HIV/AIDS and related diseases worldwide,” said Becker. “By consolidating the expertise and resources of these prominent organizations, LIP is set to play a pivotal role in advancing PEPFAR’s vital mission.”

APHL will coordinate LIP activities to achieve maximum effectiveness and avoid duplication of efforts and will build competency of local organizations to eventually assume direct management of PEPFAR-supported activities.

To learn more about APHL’s global health work, visit www.aphl.org/globalhealth.

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The Association of Public Health Laboratories (APHL) works to strengthen laboratory systems serving the public’s health in the US and globally. APHL’s member laboratories protect the public’s health by monitoring and detecting infectious and foodborne diseases, environmental contaminants, terrorist agents, genetic disorders in newborns and other diverse health threats. Learn more at www.aphl.org.

Contact Michelle Forman at 240.485.2793 or michelle.forman@aphl.org

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5 Questions for Jill Roberts, Leah Gillis, Andy Cannons – USF COPH DrPH Concentration Faculty and APHL members

Graphic with three individual headshots that says, "5 Questions for USF's DrPH Program"

The DrPH Public Health and Clinical Laboratory Science and Practice program at the University of South Florida is uniquely designed to meet the needs of working laboratory professionals and strengthen the pipeline of public health laboratory leaders. We discussed the origins of the program, APHL’s pivotal involvement and its impact on the field with three APHL members who have helped guide it since its inception.

Jill Roberts, PhD, MS, MPH, CPH, is associate professor in the College of Public Health, Global and Planetary Health at the University of South Florida; Leah Gillis, PhD, MS, HCLD(ABB), is adjunct professor in the University of South Florida College of Public Health and chair of the APHL Workforce Development Committee; and Andy Cannons, PhD, HCLD(ABB), is laboratory director, Bureau of Public Health Laboratories – Tampa with the Florida Department of Health, and chair of the APHL Public Health Preparedness and Response Committee.

Q1: Can you tell us about the DrPH Public Health and Clinical Laboratory Science and Practice program?

Jill: The University of South Florida College of Public Health (USF COPH) created the Doctor of Public Health (DrPH) program to address a growing need for career advancement for experienced, and currently employed, public health employees. It is designed to allow public health leaders to continue their current employment while completing our program. The program expanded to include the laboratory track as it was recognized that pathways for career advancement in public health laboratories were limited. The DrPH program benefits laboratory scientists in that they maintain their current employment while the labs supply the necessary setting for bench research.

Our program is entirely online, except for three short institutes that students attend in the first two years of enrollment. These institutes provide networking and advising, and some courses are completed during five days of attendance.

All of the students in our DrPH program learn core public health leadership skills such as public health practice and scholarly writing. The students in the laboratory concentration will learn laboratory management, microbiology, molecular biology, laboratory safety and bioinformatics. These skills will aid in the development of a doctoral project.

The doctoral project focus can be quite broad but most of students are aiming for the American Board of Bioanalysis High-complexity Clinical Laboratory Director (ABB HCLD) certification examination and will design bench research projects. Some of our past research includes waterborne pathogens, COVID, Candida auris and PFAS detection.  

Q2: How did the program come about?

Leah and Andy: While there wasn’t any hard data, it was pretty evident to some public health laboratory leaders that there was going to be a dearth of laboratory scientists who were both available and qualified to take over public health laboratories in the next 10-20 years. Lab directors were going to retire and there was no plan to replace them. This fear was substantiated when a 2006 Public Health Leadership Institute report clearly identified that there was a severe and continuing shortage of qualified, doctorate-level, public health laboratory  scientist-managers available to succeed the currently retiring generation of public health lab directors. Who was going to take over the ships so to speak?

Another document published in 2013 by the APHL Workforce Development Committee—“Developing a Doctoral Program in Public Health Laboratory Science and Practice”—supported the evidence and added some hope. This report summarized the current and possible future shortage of public health laboratory directors and stated that a dedicated doctoral program was urgently needed to ensure a future workforce of public health laboratory leaders. This doctoral degree needed to be available nationwide and be cost-effective and consequently rely on distance learning as a major program strategy. There was no way that staff currently working in a public health lab could afford to take off time to be enrolled at a college to take a doctoral degree for six or seven years! It just wouldn’t be feasible.

So fast-forward to 2015 when, following a survey of possible sites, USF COPH, with its extensive experience and background in distance learning doctoral degrees, was identified as a site for a new doctoral degree. A team of APHL members, all voluntary and led by Dr. Phil Amuso, was stood up to get this degree going. In consultation with USF COPH faculty, the DrPH plan of study was designed that would educate laboratory scientists to become leaders in their field that also met the standards of the university. While some of the coursework was already in place, it was obvious that six new online courses needed to be designed and written that were specific for this new doctoral degree. APHL members were recruited to write the online lectures, which were all ready for when the degree was officially offered and the first cohort was recruited in 2017.

This was quite a terrifying adventure since we did not know if this online DrPH would be acceptable as a doctoral degree for graduates to apply for national certifications such as the ABB HCLD certification or by the Centers for Medicare and Medicaid Services as a doctoral degree for CLIA directorship. It wasn’t until the first graduate of the program successfully was accepted to take the ABB certification, and passed, that we knew we had gotten it right! And that graduate is now a laboratory director!

Now in 2023, the DrPH has proven to be what we had hoped. It is a way for laboratory scientists, currently working, to earn a doctoral degree that will allow them ultimately to become laboratory directors.

Q3: Why is this program so unique?

Leah and Andy: One aspect of the program that makes it unique is the groundwork provided by the APHL Workforce Development Committee (WDC) almost a decade before the first student cohort was admitted to the program. Early on, the WDC Chairperson, Dr. Jack deBoy, led the effort of committee members and other members of APHL by preparing a workable timeline, developing surveys and writing multiple papers and articles for publication, in addition to advocating to the APHL Board of Directors for approval to continue working to solve the upcoming leadership shortage. The APHL Board of Directors established a Doctoral Program Workgroup with the major goal of contacting the deans of about 40 public health academic programs in the Association of Schools and Programs of Public Health to determine the interest, if any, of their respective college or university in partnering with APHL to develop a Public Health Laboratory Science and Practice (PHLSAP) graduate degree program. In short, the effort to solve the approaching public health laboratory leadership dilemma was provided by APHL members for the benefit of current and future APHL members.

A second aspect of the uniqueness of the program relates to its focus during development on the public health laboratory workforce—that is, asking and answering the question—how do we make this degree amenable to public health lab staff? Now, most students seeking the degree are employed in a public health laboratory and an individual student’s selected doctoral project is conducted in a public health laboratory, usually addressing an issue or problem in the diagnosis or detection of a pathogen or chemical that is an emerging threat or is a known threat to the public’s health. And, importantly, the resulting publication of the different student dissertation projects appears in peer-reviewed journals, ultimately increasing the knowledge that is available and shared by all public health laboratories. 

The program’s unique design and curriculum development by APHL members in partnership with the USF COPH continues to close the forecasted public health lab director gap identified in 2006. It uses the elective courses developed by APHL member subject matter experts to prepare current public health laboratory staff to sit for a CLIA-approved board examination and, through this pathway, obtain the necessary certification for directing a high complexity laboratory.

Q4: What are graduates doing now?

Jill: Five students have graduated from our first cohort and all five have successfully passed the ABB HCLD examination. Four of those students are public health laboratory professionals serving in director roles including director of agency operations at the San Diego County Public Health Laboratory, director of the Santa Clara County Public Health Laboratory, director of the Tulare County Public Health Laboratory and assistant director of the Orange County Public Health Laboratory. Our program has also attracted laboratory scientists from clinical and industry laboratories in addition to public health. We are proud of our first clinical laboratory professional graduate who recently passed the ABB HCLD exam and is currently serving as the regional director of laboratory operations for PIH Health, Los Angeles.

The first graduate of the second cohort is currently serving as division manager at the Michigan Department of Health and Human Services and will likely take the HCLD exam soon. Three additional students, all public health laboratory scientists, are expected to graduate in the next few months.

Q5: How can interested candidates learn more and apply?

Jill: I encourage anyone who is interested in our program to reach out to me directly with questions. Our application system, SOPHAS, is now open through November 2023 for our Fall 2024 cohort. We look forward to receiving applications and welcoming our new students!

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