APHL Honors 2023 Annual Award Winners

2023 APHL Award winners sit on a stage posing with their awards

For Immediate Release

Sacramento, CA, May 24, 2023 – The Association of Public Health Laboratories (APHL) is pleased to announce the winners of its annual awards for outstanding achievements in laboratory science, creative approaches to solving today’s public health challenges and exemplary support of laboratories serving the public’s health. Awardees were honored on May 24, 2023 during the APHL Annual Conference in Sacramento, CA. Congratulations to all award winners!

The following awards were presented:

Lifetime Achievement Award – This award recognizes individuals who have established a history of distinguished service to APHL, made significant contributions to the advancement of public health laboratory science or practice, exhibited leadership in the field of public health and/or positively influenced public health policy on a national or global level. This is not a retirement award, but a true Lifetime Achievement Award.

Gold Standard Award – The award is given to an APHL member who makes or has made significant contributions to the technical advancement of public health laboratory science and/or practice.

Silver Award – This award honors a laboratorian with 10 to 15 years of service in a Governmental public health laboratory (either Public Health or Environmental/Agricultural laboratory). The honoree will be recognized as a leader both within their home laboratory as well as external to their laboratory.

On the Front Line Award – This award honors an individual or laboratory outside of the APHL membership who makes significant contributions to the advancement of public health laboratory science and/or practice.

Emerging Leader Award – The Emerging Leader Award honors an individual whose leadership has been instrumental in one or more advances in laboratory science, practice, management, policy or education early in their career. This year there are two Emerging Leader Award winners.

Leadership in Biosafety and Biosecurity Award – This award honors a laboratorian with over 10 years of related service in the field of biosafety and biosecurity in a state and/or local public health laboratory. The honoree will be recognized as a leader both within their home laboratory as well as external to their laboratory (for example, by serving in a leadership role in committees/taskforces at the national level).

​​​​​​LEAD Award – This award, established in 2021, recognizes the legacy of Eva J. Perlman, APHL’s first chief learning officer, who over three decades helped shape the public health laboratory workforce and represented the attributes of ‘serving those who have served.’ This award honors an individual who exhibits the attributes of a leader, encourager, advocate and developer, and who has 10 or more years of service in a state, local or territorial public health laboratory, or other public health laboratory partner. This year there are two LEAD Award winners.

Champion of the Public Health Laboratory Award – This award recognizes federal, state and local elected officials or executive branch employees who have recognized the importance of state and local governmental laboratories that perform testing of public health significance either through support of legislation or federal agency decisions.

Presidential Award – The APHL Presidential Award was selected by Dr. Daphne Ware during her Presidential year (2022-2023) for the significant contributions that were made to the association’s work to promote policies that strengthen public health laboratories.

  • Judith Monroe, president and chief executive officer, CDC Foundation

Healthiest Laboratory Award – This award is given to an APHL member laboratory that is committed to safety, environmental process, environmental policy and employee health and wellness.

Thomas E. Maxson Education, Training and Workforce Development Award – This award was established in August of 1998 in memory of Dr. Maxson, and honors an APHL member who is a public health or clinical laboratory practitioner, trainer or educator who has made significant contributions to public health laboratory practice by creating, delivering or developing continuing education opportunities, programs, policies or practices for the laboratory community.

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The Association of Public Health Laboratories (APHL) works to strengthen laboratory systems serving the public’s health in the U.S. 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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2023 APHL Annual Conference – Day 2

An APHL staff person leads attendees in line dancing

From the Sunrise Walk and Innovate! Sessions to the Networking Reception, day two of APHL 2023 was chock-full of presentations, networking, activities and fun! Check out the action from our second day of APHL 2023, featuring attendee reactions, photos, videos and social media posts.

@publichealthlabs

Public Health Laboratory Fellow, Hyder stopped bu the #APHL Experience Booth to share what he’a been up to at the Annual Conference. This is Hyder’s fifth time at the conference! #APHLFellowship

♬ original sound – APHL

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2023 APHL Annual Conference – Day 1

Welcome to the more than 1,200 people who joined the 2023 APHL Annual Conference in-person in Sacramento and to the over 300 who joined virtually! Today was an exciting first day. Check out some of the photos, videos and social media highlights from the first day of APHL 2023. Join the conversation online using #APHL!

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Wastewater surveillance gained prominence during the pandemic. Where is it now?

Panelists present on wastewater surveillance at APHL ID Lab Con.

By: Erin Morin, specialist, Environmental Health, APHL

While wastewater testing is typically used in environmental health applications, wastewater testing for infectious diseases was a prominent discussion topic at the inaugural APHL ID Lab Con. This surveillance approach is relatively new in the United States and rose to prominence during the COVID-19 pandemic in large part due to CDC’s National Wastewater Surveillance System. Wastewater surveillance was a reoccurring theme throughout the conference, and two major ideas emerged: it’s useful and it should be here to stay.

What is Wastewater Surveillance?

Wastewater surveillance is a strategy for early detection of disease trends in a community and serves as a complement to clinical data. Since most of the US population is connected to municipal sewage treatment systems, wastewater surveillance creates a snapshot of how diseases and pathogens move through a community. Wastewater surveillance can gather data regardless of whether community members are symptomatic or if they seek medical attention when they are feeling sick. This can be because of their own choices, opportunities or access to healthcare, or are using COVID at home testing kits. It also provides relatively quick, reliable data that can help inform public health action. Wastewater surveillance has been used for decades for polio surveillance in other countries and gained popularity in the US during the COVID-19 pandemic. But it isn’t limited to just SARS-CoV-2, the virus that causes COVID. Many laboratories are expanding to other pathogens of concern and implementing wastewater surveillance as a staple tool in public health.

There were three different sessions at ID Lab Con that focused on wastewater surveillance and I learned new information from all of them. Below are summaries of the presentations made during each session. There is a lot here, but I found each presentation to be so interesting that I couldn’t hold back.

Wastewater Surveillance: Building Systems that Lead to Actionable Data

During this plenary session, panelists discussed their experiences collaborating with the US Food and Drug Administration (FDA), technical challenges faced when translating data to epidemiological practice, using wastewater surveillance for novel targets, and using it to inform public health actions.

Lauren Turner, PhD, of the Virginia Department of Consolidated Laboratory Services (DCLS) presented on their collaborative project with FDA that piloted wastewater surveillance efforts for SARS-CoV-2 variants in Virginia from 2021-2022. They implemented wastewater surveillance in targeted food production areas within the state such as tree nut, fruit and animal meat processing facilities due to the impact of the COVID-19 pandemic on worker illness rates and food manufacturing productivity. They were able to leverage national sequencing protocols established by the FDA Center for Food Safety and Applied Nutrition (CFSAN) to efficiently complete this project. Virginia developed the wastewater surveillance assay for SARS-CoV-2 quantification, then collaborated with FDA to determine a sequencing protocol and created a bioinformatics pipeline to collaborate with bioinformaticians to better understand the data. Overall, the data provided insight into SARS-CoV-2 viral load proportions in the sample in general as well as the representation of different variants. After the successful completion of the pilot project, DCLS will continue performing wastewater surveillance for SARS-COV-2 and will expand to other pathogens of concern. They have created their own two-step pipeline, affectionately named SPLINTER after the Teenage Mutant Ninja Turtles character, which analyzes their sequencing results using FDA’s sequencing protocols. While DCLS noted the challenges posed by a new technology, such as complex mixed sample analysis, they are thankful for the FDA pilot project and excited to see where wastewater surveillance takes them next.

Dagmara Antkiewicz, PhD, began her presentation, “Technical Challenges to Enhanced Integration of Wastewater-based Pathogen Data in Epidemiological Practice” by providing a brief background on wastewater surveillance work at the Wisconsin State Laboratory of Hygiene (WSLH). As early adopters of wastewater surveillance, WSLH began using this innovative technology in the fall of 2020, less than one year into the COVID-19 pandemic. Their program covers 50% of the state’s population with geographical coverage ranging from large cities to small municipalities. WSLH has also been performing weekly whole genome sequencing on a subset of the wastewater surveillance samples for over a year and has successfully on-boarded wastewater influenza and respiratory syncytial virus (RSV) assays. Genomic surveillance of wastewater is a relatively new approach as wastewater surveillance was typically used to quantify SARS-CoV-2 during the pandemic. Although uncommon right now, sequencing may be the new frontier for wastewater surveillance. However impressive WSLH’s wastewater program may be, Antkiewicz focused this presentation on the challenges of this testing. Noting that wastewater surveillance is here to stay, she posed the question, “How do we move forward with it?”

The biggest challenge Antkiewicz mentioned was the lack of a standard method. While APHL and the US Centers for Disease Control and Prevention (CDC) have come out with some guidance, every laboratory is running different tests based on what works best for them. Another noted challenge stemmed from the relative infancy of this testing in the US. As an epidemiological tool, there is still much to be uncovered—laboratory testing sensitivity, normalization and turnaround time all appear to be sufficient, but long-term data will tell if current approaches are adequate. Going forward, WSLH plans to continue using wastewater surveillance for SARS-CoV-2, influenza and RSV, while evolving the system to provide new sources of data to help understand how diseases move through a community.

With all the hype around the new show The Last of Us, it’s no surprise a fungus made it to the stage at ID Lab Con.Alessandro Rossi, PhD, Utah Public Health Laboratory, shared their work using wastewater surveillance to detect Candida auris.C. auris is a fungus that causes severe infections that are often resistant to medication and difficult to identify. This fungus is becoming more common and can spread in hospitals and nursing homes. Although at the start of this project, there was no documented evidence of person-to-person transmission of C. auris in Utah, Rossi and his colleagues thought it would be useful to determine whether wastewater surveillance could detect it in the environment. Leveraging infrastructure implemented during the COVID-19 pandemic, they transitioned to looking for C. auris. With just a few tweaks to a clinical culture method they were able to recover the fungus from wastewater sent from neighboring Nevada in May 2022. This result allowed them to establish an epidemiological link between wastewater isolates and healthcare facilities within the sampled sewershed. In collaboration with the Southern Nevada Water Authority, they also used community-level wastewater surveillance via PCR to follow the transfer of a C. auris– infected patient from Nevada to a city in Utah where the pathogen was not previously detected. The patient was admitted in early November and in only a few weeks, the laboratory was detecting the fungus in the wastewater. No other cases were identified, but C. auris was detected until mid-February. Efforts that began from curiosity of whether C. auris could be recovered from wastewater turned into an organism-specific proof-of-concept study on the feasibility of wastewater based epidemiology.

With SARS-CoV-2 detection under their belt, many laboratories have begun to branch out to see if wastewater surveillance technologies can be applied to other pathogens. One major component of wastewater surveillance is the use of sequencing to determine the presence of specific pathogens in the community that are not commonly looked for in other surveillance measures. In his presentation, Eric Vaughn and the DC Public Health Laboratory detailed their sequencing journey. To use laboratory bench time most efficiently, they determined the best kit for their workflow: a rapid sequencing kit. Thanks to this choice, they were able to find genes representative of sexually transmitted infections, and a host of E. coli, tuberculosis and Salmonella that wouldn’t have known otherwise. As they continued sequencing, they would move on to emerging infections just as mpox cases began to pop up around the country. By using a simple kit, they were able to make a significant discovery—identifying how much of a wastewater sample’s viral load was made up of the mpox virus. The very same library prep kit would also allow them to see seasonal viruses such as influenza A and B. Next, the DC laboratory set their sights on Salmonella. In DC, there is no mandatory reporting, meaning the laboratory is not guaranteed to catch every Salmonella case that goes to a DC hospital. However, using wastewater surveillance, they can determine a baseline of Salmonella within the city over time. By determining the prevalence of different Salmonella serotypes in the area, they can create a baseline that allows the laboratory to notice if something new or unusual shows up in the wastewater. This will enable the laboratory to communicate a potential Salmonella outbreak in the city to epidemiologists without the need for clinical data. Looking to the future, the DC Public Health Laboratory will continue to identify increased prevalence of pathogens, especially around long-term care facilities and schools.

Pushing Back the Frontiers if Science: A Review of This Year’s Literature

During this plenary session, panelists discussed the current literature on various aspects of public health. Topics ranged from respiratory viruses, mycology, next generation sequencing and, of course, wastewater surveillance, presented by Michael Pentella, PhD, D(ABMM), director of the State Hygienic Laboratory at the University of Iowa.

While wastewater surveillance is a relatively new technology in the US, there is no shortage of scientific literature on the topic—in fact, Pentella found over 1,200 papers when preparing his presentation. The first paper he covered was a systematic review that proves wastewater surveillance is a useful tool in the public health toolbox. The next articles were split into pre-analytical, analytical and post-analytical, with pre-analytical focusing on sampling approaches and the analytical part focusing on methods. But the post-analytical paper focused on ethics—an emerging conversation in wastewater surveillance that discusses the need for wastewater results to be considered as human health data. If wastewater data are treated similarly to clinical data, it will protect privacy and advance this science more efficiently as ethical concerns would likely hinder progress. While still a new technology to the US, available literature shows that wastewater surveillance has established itself as a powerful tool to identify, locate and manage outbreaks, but ethical considerations will need to underlie scientific decisions moving forward.

Responding to Emerging Infectious Disease

During this session, panelists shared their expertise on responding to various infectious diseases that have plagued the country these past few years. Kirsten St. George, PhD, Wadsworth Center, discussed how they leveraged their wastewater surveillance infrastructure developed during the pandemic to respond to a polio outbreak.

St. George began her presentation with a brief background on polio and its vaccinations. As polio had been declared eradicated in the US decades ago, vaccination efforts ceased nearly 20 years ago. Most notably, only 30% of infected individuals show symptoms, allowing this dangerous virus to silently travel though communities. In June 2022, when an immunocompetent adult presented at the hospital with fever, fatigue and stiff joints, nothing seemed to be exceptionally out of the ordinary. Samples were collected from the patient and sent to the Wadsworth Center where they were confirmed to be positive for enterovirus, which again, was nothing out of the ordinary. Everything was business as usual until the laboratory manager came to St. George with shocking news: they had received the routine VP1 sequencing results and the sample was positive for poliovirus. Her immediate response was “run them again.” Unfortunately, the sample had been evaluated three separate times with the same results. After confirmation from CDC, it was official: polio had been resurrected in New York. After some investigation, it was determined the patient had been exposed in the US. Wadsworth Center needed to track the virus to find out how long it had been present, so they turned to a newer addition in their public health arsenal: wastewater surveillance. To do this, they used legacy samples from fourteen counties near the initial case and found poliovirus had already been circulating before the initial case was identified. The laboratory continued to use wastewater data to guide epidemiologists and inform public health interventions such as vaccination efforts in low vaccination-rate regions. New York will continue to monitor the wastewater for poliovirus in the fourteen counties and areas with high travel rates since poliovirus is still endemic in other parts of the world. The laboratory has also developed a plan to scale up surveillance should another case arise. Due to the significant percentage of asymptomatic polio, wastewater surveillance and clinical data provided public health officials with the information they needed to keep this outbreak under control. It also provided the rationale to comprehensively plan for future responses.

While wastewater surveillance certainly has its challenges as a new technology in the US, attendees at APHL ID Lab Con learned it can play a key role in public health practice. With its ability to detect disease trends within a community in an unbiased way, identify the presence of diseases without clinical case data, and distinguish additional pathogens of concern, laboratories have been able to transition their pandemic-developed wastewater surveillance infrastructure into a versatile tool for a variety of post-pandemic public health needs.

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Dr. Demetre Daskalakis brings “infectious energy” to first ever APHL ID Lab Con

Dr. Demetre Daskalakis speaking at a podium during APHL ID Lab Con 2023

By Sarah Buss, manager of HIV, viral hepatitis, STD and TB, APHL

The first ever and long-awaited APHL ID Lab Con opened with an inspirational message from keynote speaker, Demetre Daskalakis, MD, MPH, director of the Division of HIV Prevention at the US Centers for Disease Control and Prevention (CDC). He is also currently serving as the White House National Mpox Response Deputy Coordinator. Dr. Daskalakis described public health laboratories as a ray of light that “illuminate the way for effective response to infectious disease threats, both acute and chronic,” and this imagery served as an underlying concept throughout his talk. Dr. Daskalakis drew on overlapping themes from his work to form an innovative and yet logical blueprint for realization of public health systems equally prepared to deal with emergency response and everyday needs.

Although his career has been primarily focused on HIV, Dr. Daskalakis explained that he has been frequently pulled to support public health emergency responses over the years. Most recently, he joined the federal mpox response as the White House National Mpox Response Deputy Coordinator in August 2022. Daskalakis used his experience with HIV and mpox to illustrate that “similar strategies work for chronic and acute outbreaks.” The first strategy Daskalakis outlined was meaningful community engagement with appropriate messaging to at-risk populations. Then he addressed political will. “People who have power need to understand how important the work is,” said Daskalakis. When community engagement and political will come together, Daskalakis explained, science is elevated leading to a three-part response to infectious diseases consisting of testing, treatment and prevention.

Using a 2018 Legionnaires’ disease outbreak in New York City as an example, Dr. Daskalakis stressed that public health programs and public health laboratories are tools for each other. During that Legionella response, public health epidemiologists, environmental scientists and laboratory teams worked together, mapping positive Legionella urinary antigen results, sampling cooling towers near Legionella clusters and sending samples from patients and towers for laboratory scientists to culture. Labs then worked to sequence any resulting isolates and sent the data back to epidemiologists who worked with the public health department to identify and treat the source tower. The response was successful because of the close interaction between the public health program teams and the lab teams. Given his frequent Madonna references throughout his talk, it is shocking that Daskalakis did not say, “epi holds the lock and labs hold the key,” but it was clear that was what he meant.

Transitioning back to HIV, Daskalakis outlined how testing used in the right place with clear, targeted messaging opens doors to a variety of interventions. Daskalakis explained that during an investigation of a multi-drug resistant (MDR) HIV case, sequencing data was used to link a New York City bathhouse to transmission of the MDR HIV. Daskalakis decided to bring testing services closer to where people needed them. This led to HIV testing in the bathhouse and ultimately to the development of the New York City HIV Status Neutral Prevention and Treatment Cycle, which Daskalakis described as “the notion that an HIV test opens the door” to treatment and prevention services.

Building on the concept, Daskalakis described the evolution of HIV testing in New York City. Citing statistics that show various sexually transmitted infections (STI) increase the risk of HIV infection, Daskalakis explained that, “STI testing is HIV prevention.” Consequently, clinics in New York City began to offer both HIV and STI testing, treatment and prevention services. Messaging and nomenclature was revised to flip the focus from disease intervention to prevention and wellness with the advent of NYC Sexual Health Clinics. Then, deriving inspiration from London’s Dean Street Clinic, Daskalakis and the New York City Department of Health and Mental Hygiene moved toward the creation of a Quickie Lab within one Sexual Health Clinic. Opened in 2019, the Quickie Lab focused on the rapid detection of chlamydia and gonorrhea in part as a tool for HIV prevention. The Quickie Lab revolutionized STI testing in the clinic by significantly reducing turnaround from specimen collection to result reporting and treatment.

While the Quickie Lab that opened in summer of 2019 was initially focused on STI testing, Daskalakis said that the instruments could be used for other testing. The plan was that the labs could be “flipped” for emergency response, which was put into action in 2020 as the Quickie Lab was flipped for use in the COVID-19 pandemic response. Daskalakis encouraged the audience to “never let an emergency go by without taking advantage of it for your foundation.” He explained how COVID funds were used to quickly open eight additional COVID-focused Quickie Labs in what had been NYC Sexual Health Clinics, and how these COVID labs are now being flipped back to Sexual Health Clinics. Continuing to reinforce this concept, Daskalakis shared that during the mpox response select agent laboratories were flipped to focus on sexual health.

To close his keynote, Daskalakis summarized the lessons he has learned from his career working on HIV and the other acute outbreaks that have demanded his attention. He encouraged us to build disease-flexible labs at sites that reach the public and always consider and communicate “the flip.” He stressed that “laboratory capacity is critical during war and peace time” and said laboratories can be “kept warm” for acute emergencies by testing for chronic challenges at an increased capacity.

Dr. Daskalakis brought an infectious energy to this first ID Lab Con. While he equated laboratories to a “ray of light illuminating the work that we do every day,” he was the ray of light at ID Lab Con.

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NCBI at ACMG 2023

Join us March 14-18 in Salt Lake City, Utah  We are excited to celebrate ClinVar’s 10th anniversary and look forward to seeing you in-person at the 2023 ACMG Annual Clinical Genetics Meeting, March 14-18, 2023, in Salt Lake City, Utah. We will participate in a variety of events and activities featuring our clinical and human … Continue reading NCBI at ACMG 2023

APHL x The Story Collider: Call for Story Pitches

APHL x The Story Collider: Call for Story Pitches (with logos)

Did you hear that ID Lab Con, APHL’s newest conference, is in-person in Atlanta, GA for the first time in March 2023?? As part of the conference, on March 14, 2023, The Story Collider and APHL will host a very special edition of their live show. (More event details to come!) This is our second event with The Story Collider; our first was a virtual event in 2020.

In preparation for this exciting event, we are looking for storytellers. The Story Collider producers will choose three people to share true, personal stories related to infectious disease work in some way, showcasing the work and lives of the APHL community. The only requirements are that you must be attending ID Lab Con in person and your story must be related to infectious disease work in some way.

What is The Story Collider?

Science and public health shape everyone’s life—and that means everyone has science and public health stories to tell. The Story Collider produces dozens of shows all over the country. Some of the stories are heartbreaking, others are hilarious, but they are all true and all very personal. Join us on March 14 for a very special edition of The Story Collider, featuring three true, personal stories about science from APHL members! While this will be a live event as part of ID Lab Con, the recording will be shared publically for everyone to enjoy.

What makes a good story for this event?

Stories are powerful. Whether hilarious or heartbreaking, subversive or soothing, it matters who takes the stage and what stories are told. Whatever your position in the lab, we want to hear yours! The story must have an arc. This means that you, the storyteller, change from the beginning to the end of the story. This change can be big or small—as momentous as becoming a parent or as small as learning to ask for help—but it has to be there in order for the audience to feel that the story is going somewhere.

Is this similar to a conference presentation?

The Story Collider is not the place for lectures: it is about lived experiences. And the format does not include slides or props. Though this is a science storytelling show, the goal is not to educate the audience, but to build an emotional connection between science and the public. So while each story must contain a significant science and/or public health element, please use only as much science as needed for the audience to understand and follow your story.

I have an idea, but it needs some help!

All you need at this point is the seed of an idea for your story. It can be about almost anything – being pulled away from your usual work to support mpox testing, a surprising realization while sequencing SARS-CoV-2, long days at the lab, supporting a team, misadventure, love, loss and more, but it must be about YOU. True, personal stories have the most power when they are about the person telling them. Let the audience in on your thoughts and feelings so they can go on the journey with you.

If you are selected for the show, keep in mind that there is a small time commitment involved. Every storyteller works one on one with a Story Collider producer to brainstorm and shape their story, and then they typically hold a group rehearsal one to three days before the show.

The Story Collider event will be recorded. If you would like to submit a pitch, please be sure to get any necessary permissions from your supervisor and public information officer.

Send your pitches!

Pitches are typically about one to two paragraphs long. As we said, the only requirements are that you must be attending ID Lab Con in person and your story must be related to infectious disease work in some way. Send your pitch to stories@storycollider.org with “APHL Story Idea” in the subject line. The deadline for pitches is January 27, 2023.

Need some inspiration?

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The promise of whole genome sequencing faces privacy concerns

Panelists at the APHL 2022 Newborn Screening Symposium during a session called, "The Next Frontier of Genetics and Privacy: Newborn Screening at the Intersection."

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. Conducted when an infant is only a day or two old, newborn screening checks a baby for rare, serious and mostly treatable health conditions such as sickle cell disease, cystic fibrosis, phenylketonuria, hypothyroidism and more. It is done through a blood test by pricking a baby’s heel to get a few drops of blood. A hearing test and heart screening are also conducted.

Whole genome sequencing — which maps out an individual’s entire DNA sequence — can be used to diagnose a disease in a sick child, but is also used in healthy newborns to look for potential issues. It is not routinely done as part of newborn screening. But will that change in the future? And what are the potential privacy consequences?

“We are at a time where newborn screening is sitting between changing technologies, changing panels, the use of whole genome and exome sequencing in both families experiencing rare disease and in healthy newborns. … At the same time, on the other side, we have an increased concern among families and communities around genetic privacy,” said session co-moderator Aaron Goldenberg, PhD, MPH, professor and vice chair in the bioethics department at Case Western Reserve University and the co-director for Case Western’s Center for Genetic Research Ethics and Law.

Challenges and lawsuits have popped up against the storage and use of infants’ dried blood spots, which DNA can be extracted from. Some states store dried blood spots taken for newborn screening for years and use them for quality assurance, quality control and implementation of new screening tests. Any time a new disorder is added to the recommended uniform screening panel (RUSP), newborn screening programs do a population study to determine how best to detect that condition. Population studies require thousands and thousands of samples – so without the stored dried blood spots, population studies would become much harder to conduct and would slow down progress to implementing new screening tests. 

In a Michigan lawsuit, lawyers argued that the existing consent form —which is required from parents before their baby’s blood can be used for research — was vague and that parents were not sure what they actually signed. In New Jersey, privacy concerns were highlighted when it was uncovered that law enforcement used an infant’s dried blood spots to identify a criminal suspect related to that child.

Session presenter Rachel Lee, PhD, HCLD, medical screening unit director in the Laboratory Services Section of the Texas Department of State Health Services, outlined the health department’s experience in Texas, which was sued and settled the lawsuit in 2009. The lawsuit said the storage and use of newborn screening blood spots violated the Fourth Amendment, which prohibits unreasonable searches and seizures.

Texas had begun destroying all its blood spot samples before the settlement; 5.3 million specimens were destroyed between 2002 and 2009, Lee said.

Before the lawsuit, Texas didn’t require parental disclosure. That changed after the settlement, when the state passed multiple laws to address privacy concerns. The state now requires disclosure of specimen storage and use for other purposes. Initially, a 2009 law allowed parents or adults to request destruction of samples; in 2011, a new law changed that opt-out process to an opt-in requiring parental consent to store and use their infant’s blood spot. The new law also limited use to only public health purposes.

The health department had to consider and develop new processes for request and approval, destruction, storage and documentation, Lee said. “We also did a lot of engagement and education and communication to stakeholders, the public and parents, hoping they understand why these specimens were valuable to us,” she said.

Since the new laws, about 40% of parents allow storage, while 17% require the specimens be destroyed. The remaining 43% do not return the decision form. “We do have educators trying very hard to reduce that number,” Lee said.

Without the specimens, it’s more difficult for the public health laboratory to ensure the testing process is performing as well as it should be, she said. It also makes it challenging to add new conditions to the NBS panel.

Whole genome sequencing can save babies’ lives

Presenter Wendy Benson, MBA, outlined the important findings that WGS can uncover. Benson is chief strategy and innovation officer at Rady Children’s Institute for Genomic Medicine in San Diego. The institute works with 83 children’s hospitals to conduct WGS on severely sick children in intensive care units to determine what rare disease they might have. In the institute’s eight years, it has sequenced about 3,500 genomes and has a 40% diagnostic rate.

“This journey has been so humbling,” Benson said. “We work with really smart medical geneticists, but it’s amazing how much we don’t know.”

For example, the institute uncovered 13 Kabuki syndrome cases in San Diego. Kabuki syndrome is a rare, multisystem disorder; the symptoms and severity differ among individuals.

“These don’t look like your normal Kabuki [cases],” Benson explained. “These kiddos are in the ICU; they have wires and tapes and all sorts of tubes coming in and out of them, so the phenotype doesn’t look like Kabuki. There’s obviously stuff we don’t know about Kabuki because we’re finding so many of them so early.”

Benson outlined a study that showed the critical need for WGS. The San Diego Study of Outcomes in Mothers and Infants San Diego County used the county’s 20 years of collected blood spots to study unknown deaths among babies younger than one year old. Among 45 infant deaths, WGS showed that 31% had a genetic disease; of those, 57% had an effective treatment available if the children had been diagnosed.

The institute is starting a study that will conduct WGS on 50 infants, looking at 400 disorders. As the institute scales the project and builds its partnerships, its goal is to sequence more than 1 million babies, Benson said.

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

APHL 2022 Newborn Screening Virtual Symposium was held in Tacoma, Washington, and online October 16-20, 2022. 

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Sickle cell disease patients lack access to appropriate care after newborn screening and diagnosis

Julie Kanter, MD, director of the adult SCD program at the University of Alabama, Birmingham and president of the National Alliance for Sickle Cell Centers, speaks at the APHL 2022 Newborn Screening Symposium.

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 University of Alabama, Birmingham and president of the National Alliance for Sickle Cell Centers, which was created in 2020.

It took another 21 years for the next drugs to be approved. And today, Kanter said, more than 50% of adults with SCD are not being treated by SCD experts.

Kanter’s presentation was part of the keynote session, “Improvements to Technology, Testing and Treatments: Progressing towards Universality in Newborn Screening,” during the APHL 2022 Newborn Screening Symposium in October.

She illustrated how much more needs to be done to improve SCD treatment and the quality of life for patients—particularly overcoming political and financial barriers to care and engaging families soon after a baby’s newborn screening.

People with SCD, which can be a very painful disease, have abnormal hemoglobin in their red blood cells that causes the cells to become hard and sticky and die early causing a shortage of red blood cells. Kanter pointed out SCD is a multi-system vascular disease—it’s not only about the red blood cells. “All that damage to the endothelium and the inside of the blood vessel means there’s not a single organ that remains unaffected by this disease,” she said.

SCD is the most common inherited clinically significant blood disease in the US, Kanter said, affecting approximately 120,000 people. The survival rate to adulthood has improved from less than 50% in 1970 to nearly 95% in 2010, thanks largely to the newborn screening process that detects SCD in the first week of a baby’s life. SCD was first included on the newborn screening panel in 1975, starting in New York. By 2006, it was on all 50 state panels, which is considered a major public health success story.

However, Kanter illustrated that while many newborns are diagnosed early, they are not receiving appropriate care or being seen by a SCD specialist throughout their lives. She illustrated the problem through the case of her SCD patient Janelle (not her real name), age 29. By the time Kanter saw Janelle as an adult, she had several complications including fatigue, chronic pain, death of bone tissue in two joints and alloimmunization, meaning her body’s immune system put up a fight against the red blood cell transfusions that should have helped her.

Janelle had also tried one of the only SCD medications at that time, hydroxyurea, but she didn’t take it regularly because she wasn’t sure why she was supposed to be taking the drug, Kanter said. Janelle was among those who lived into adulthood with SCD. However, she was on disability, had to drop out of college, felt she couldn’t leave her house for long periods and had been hospitalized five times in the previous year.

“This is why we’re not there yet. We’ve improved childhood mortality—great. … But we haven’t improved mortality overall, specifically in our young adults,” Kanter said. Recent data show adults with SCD die on average at age 43 for women and 41 for men.

In 2015, Kanter restarted Janelle on hydroxyurea—and explained to her why she needed it—and created an individualized care plan for her. Those interventions decreased her hospitalizations to twice a year, but she still had very frequent acute pain. In 2017, she was given a new drug, crizanlizumab, which significantly decreased her acute crises. Her last hospitalization was in 2018, though she still seeks treatment at Kanter’s clinic for frequent pain.

Janelle later asked to be considered for gene therapy, but an evaluation showed that she had more antibodies in her blood than Kanter had ever seen. This meant there were no blood units available that she would need to have blood transfusions as part of gene therapy. Because Janelle had not been cared for appropriately and had not previously seen a SCD specialist, she could not undergo gene therapy, Kanter said.

How to improve sickle cell disease care

While SCD is more prevalent than hemophilia and cystic fibrosis combined, there are only half as many comprehensive adult SCD centers in the US compared to more than 130 each for the other two diseases, according to Kanter.

Until recently, SCD had no coordinated network of centers; they were all operating in siloes. And there was no clear definition of what a sickle cell center was. There is no SCD registry to collect long-term data, and there is an insufficient number of centers with experts focused on adult SCD care.

“How’d you know if you went to a sickle cell center versus someone who hung their shingle up and said, ‘yes, we can take care of you with sickle cell disease’?” Kanter explained.

And the drugs now available to treat SCD are used by less than 50% of the people who need them. The rise in mortality occurs in the early adult years, ages 20 to 24, which often puts the blame on the transition from pediatric to adult care. But Kanter said that’s not the full story. She undertook a study of 421 SCD patients to see when patients were lost to follow-up care.

“The most common predictor for whether or not they made it to my adult center was whether they were seen after 15 years of age. … These patients were lost to follow-up long before transition [to adult care],” she said.  

To prevent this, Kanter called for early engagement with families from sickle cell centers, right after newborn screening leads to a SCD diagnosis. Recent data show that early childhood-specific treatments are not being done. Penicillin prophylaxis is given continuously to fewer than 30% of children ages 1–5 with SCD. There is currently no standardized protocol for SCD diagnosis via a newborn screening program and no definition for when the program resolves and closes the case.

“This clearly suggests to us that there’s some insufficient, poorly standardized newborn screening follow-up programs because some of these kids just aren’t getting to care,” she said.

“As a result,” she added, “there’s no assurance that a child diagnosed with sickle cell disease will ever see a sickle cell disease specialist.”

Kanter invited newborn screening programs to join her ENHANCE Study, an APHL-funded quality improvement project to study and develop an optimized protocol for notifying SCD families and a definition of “case resolution” for newborn screening departments. Kanter is also leading the RECIPE study, which aims to identify and link underserved adults with SCD to specialists. The RECIPE study will adapt the concept of “linkage coordinators” used successfully in HIV care.

“I can’t tell you the number of 30- to 50-year-olds who walk into my clinic that haven’t been seen by a sickle cell specialist,” she said. “Many of them don’t even know we exist, much less how to get there or make an appointment.”

Kanter acknowledged that newborn screening for SCD has resulted in amazing improvements in care and reduced childhood mortality. “But despite these improvements, many children and adults are not getting guideline-based care for sickle cell disease.” Although several “amazing” therapies are being developed, without access to SCD centers, patients will never receive the right treatments, she said.

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

APHL 2022 Newborn Screening Symposium was held in Tacoma, Washington and online October 16-20, 2022. 

The post Sickle cell disease patients lack access to appropriate care after newborn screening and diagnosis appeared first on APHL Blog.

Importance of newborn screening for early detection and treatment emphasized by patients and families

Three panelists share their stories during the APHL 2022 Newborn Screening Symposium.

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 recalled. But Hogenson’s mom said, “I know she’s in there.”

Finally, a pediatrician suspected sickle cell anemia and had the baby tested. The results were positive. Sickle cell anemia is part of a group of inherited disorders known as sickle cell disease (SCD). People with SCD have abnormal hemoglobin in their red blood cells that causes the cells to become hard and sticky and die early, according to the Centers for Disease Control and Prevention. The red blood cells can also get stuck in small blood vessels, causing severe pain and other serious health problems.

Routine newborn screening in the US will celebrate its 60th anniversary next year, and as of 2011 all 50 US states were screening for at least 26 disorders. Through a simple heel prick in the hospital when a baby is one to two days old, newborn screening tests an infant for rare but serious disorders that can be treatable.

If Hogenson, born in Washington, had received newborn screening when she was born, SCD would not have been included in the panel. New York was the first state to screen for the disease beginning in 1975. It wasn’t until 2006 that universal newborn screening for SCD was in place in all 50 states, Puerto Rico and the US Virgin Islands.

As a child, Hogenson was in and out of Seattle Children’s Hospital, which she referred to as her “second home.” She’s had meningitis three times which caused brain damage; strokes that led to learning disabilities; more than 20 surgeries; and 32 years of routine exchange blood transfusions, which she credits with saving her life.

Despite her challenges, Hogenson said she “exceeded all their expectations.” She graduated high school even though it was difficult: “Me and math still don’t get along.” She drives and has held a full-time job. “I wasn’t supposed to live this long; here’s to proving them wrong,” she said.

She thanked Symposium attendees for now screening every infant for SCD, “so their families don’t have to go what mine went through to find out what was wrong.”

Hogenson and fellow panelist Denise Bazemore, a 63-year-old woman who also has SCD, will soon be living in a new “sickle cell house” in Seattle called the “HUB,” which was developed by the Metro Seattle Sickle Cell Task Force, a grassroots organization.

HUB, which stands for healing, use and belonging, will offer people with SCD massage, yoga, acupuncture, reflexology and other therapies. It will offer educational and occupational workshops and offer a safe place for those with SCD to connect and support each other.

Improving newborn screening education

Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.
Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.

Also speaking on the panel were Susan Mays and her daughter, Indie, age 9. Thanks to the newborn screening program, Indie was diagnosed with maple syrup urine disease (MSUD) a few weeks after she was born. MSUD is a condition in which the body cannot process certain amino acids, requiring a strict low-protein diet.

Susan Mays said she didn’t really know what newborn screening was until her baby’s second-week follow-up appointment with her pediatrician, when she was told her daughter needed a second screening test.

“It makes me cringe to think about it now, but at the time I questioned why a second test was necessary, simply being clueless as to its importance,” she said. Indie wasn’t showing symptoms of MSUD, making the second test all that more important because that’s what led to her diagnosis. She had a confirmatory test a few days later.

Now Indie is a happy little girl who loves soccer, French fries and reading. She’s limited to 12-15 grams of protein a day and drinks four to five servings a day of medical formula.

While Mays said the process of getting tested and notified was “textbook,” she pointed out that she doesn’t remember being told about newborn screening during her pregnancy. She didn’t understand what it was for, causing her to push back a bit on that second test.

Mays said there’s an opportunity to explain what newborn screening is “far earlier than when the mom is pregnant,” perhaps even teaching about it as part of high school sex education classes. And it should certainly be emphasized in birthing classes and by pregnant women’s health care providers, she said.

It’s also important for families like hers to continue to share their stories about how newborn screening saved their babies’ lives and led to earlier treatment, she said. “I think all of us who have been impacted have a responsibility and an opportunity to help educate, starting with your friends, your family, using social media. I don’t think it relies on any one person or any part of the puzzle. Certainly, there’s a big opportunity for an understanding of why it’s done and why it’s important.”

The presentation concluded with a powerful video of other families sharing how newborn screening saved their babies’ lives. Afterward, attendees and panelists, and other families affected by newborn screening, gathered for a mixer in the exhibit hall.

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

APHL 2022 Newborn Screening Symposium was held in Tacoma, Washington, and online October 16-20, 2022. 

The post Importance of newborn screening for early detection and treatment emphasized by patients and families appeared first on APHL Blog.