How has COVID-19 created challenges for pediatric lead testing?

Dried blood spots used for lead testing

by Ariana La Grenade-Finch, intern, Environmental Health, APHL

COVID-19 has remained top news for several months and has altered lives in many ways. One of the ways things have changed is in how and the frequency in which laboratories conduct pediatric lead testing, something that, even during a pandemic, remains essential as part of regular pediatric checkups. To further understand COVID-19’s impact on pediatric lead testing, I decided to speak with APHL members from environmental health laboratories.

From a flood to a trickle
At the Michigan Department of Health and Human Services-Bureau of Laboratories, sample collection has been difficult because many pediatric facilities closed for in-person appointments and patients were seen remotely. Samples weren’t being provided as usual. The North Carolina State Laboratory of Public Health had a decreased number of specimens submitted during the months following initial stay-at-home orders, but has seen an increase in sample submission from 2,330 specimens in April to 3,515 specimens in May. Despite the difficulties that decreased collections suggest, both of these labs are still receiving some samples and proceeding with lead testing as much as possible.

One laboratory that has been more heavily impacted by decreased testing and hasn’t seen much of an increase in recent months is the Louisville Metro Department of Public Health and Wellness Laboratory in Kentucky. Scientists there have seen a significant decrease in blood lead testing since the pandemic began, dropping from an average of testing five days per week to three days per week due to a lack of sample volume. In April of this year the laboratory received only 126 samples, down from 400 last year.

Because of the decrease in samples and because of increased need for support, many environmental health staff have been repositioned to work on COVID-19 instead of their usual duties. For example, in the Rhode Island State Health Laboratory, which typically performs the state’s largest volume of blood lead testing, there have been days where they received no samples due to the pandemic. Those scientists were moved to support COVID-19 testing leaving fewer hands available for the lead testing work that was needed.

Long-term impact
Decreases in testing point to potential long-term ramifications for children. For some jurisdictions, as pandemic-related restrictions are lifted and pediatrician offices are re-opened, there will be an increase in the number of children being tested. In other areas, such as Louisville, there was already pre-pandemic concern about not screening enough of the high-risk children in the community. This sentiment has only intensified during the course of the pandemic although taking action remains challenging. Louisville had plans to increase screening of pregnant mothers late last year, but the project lost momentum when the pandemic struck and has not changed in recent months despite re-openings.

The lack of screening in certain high-risk populations raises concerns related to delayed diagnoses, implementation steps and interventions concerning children’s health. Discussions with a handful of laboratories have given me a preliminary understanding of how COVID-19 is affecting pediatric lead testing in environmental health laboratories across the nation, but there is variation and there will be more to explore as the pandemic continues.

Read more about the interest in pediatric lead testing.

Ariana La Grenade-Finch is currently a Program Analyst with the Office of Research and Development, Environmental Protection Agency.

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Maximizing next-generation sequencing in newborn screening through bioinformatics

A baby sleeps with his dad

by Samantha Marcellus, MPH, APHL-CDC Newborn Screening Bioinformatics Fellow

We live in the era of rapid access to near limitless information, over-the-counter DNA testing, and emerging gene therapies. As genetic testing, technology, and treatments advance, newborn screening must broadly utilize bioinformatics to keep up with the ever-changing rare disease arena and other areas of public health. Infectious diseases groups have widely adopted bioinformatics and next-generation sequencing over the last decade, and many laboratories have the capability to sequence and interpret the whole genome of a pathogen in hours or days. Through bioinformatics, cases can be linked via their specific strains and outbreaks can be declared more rapidly than ever before.

For the states that have harnessed the power of next-generation sequencing and bioinformatics for second- or third-tier screens, test times have been reduced and more detailed genetic information is presented to the providers. Continued and widespread implementation of bioinformatics in NBS is vital for programs to keep up with advances in technology and to offer providers and parents a more complete picture of the newborn’s risk profile.

Getting Started in Texas
In spring 2019, APHL and the Newborn Screening and Molecular Biology Branch at the US Centers for Disease Control and Prevention (CDC) selected the inaugural class of Newborn Screening Bioinformatics Fellows—myself and three others. We were matched with state public health laboratories to enhance or implement bioinformatics in their NBS programs.

At the Texas Department of State Health Services Laboratory we are building a bioinformatics program from the ground up. We are developing and refining a program to efficiently and accurately analyze and interpret severe combined immunodeficiency (SCID) next generation sequencing data. The public health bioinformatics community has already developed many great pipelines and analysis tools, so we plan to draw from those tools while adding some of our own programs to best fit the needs of Texas newborns. While all states utilize bioinformatics in different ways, we can still learn a great deal from our collective experiences.

In Texas, geneticists and consultants from around the state have shown interest in receiving sequencing information from the newborn screening program. The results from next-generation sequencing can be used to complement currently available newborn screening results and provide parents with a more complete picture of their child’s risk for a screened disease. As gene therapy is developed for an increasing number of disorders and those diseases are added to the Recommended Uniform Screening Panel (RUSP), the need for rapid DNA sequencing may increase in kind.

Looking Forward
With in-house bioinformaticians, laboratories will be able to process and analyze next-generation and Sanger sequencing data more rapidly and with programs that are designed to fit the state’s specific needs. These capabilities can allow for faster test times, higher accuracy and precision in results, and quicker result reporting. In the case of newborn screening, that could mean referring a baby to a specialist more quickly and with more complete information. Through programs such as the APHL/CDC Newborn Screening Bioinformatics Fellowship, state laboratories have the opportunity to develop staff and infrastructure to meet the evolving needs of newborn screening programs and public health in general.

The post Maximizing next-generation sequencing in newborn screening through bioinformatics appeared first on APHL Lab Blog.

Newborn Screening: This Tiny Test is a Big Job That’s Always Improving

By Scott J. Becker, executive director, APHL

Newborn screening saves or improves lives – 12,000 each year, to be specific. Every year over four million babies born in the United States have their heels pricked during the first days of life to check for certain devastating conditions that are not otherwise apparent at birth. The small number of babies who test positive for those conditions may suffer serious and irreversible damage without early detection. Newborn screening enables health professionals to identify and, in most cases, treat those babies allowing them to grow up to live healthy, normal lives. The newborn screening program is one of our nation’s greatest public health achievements, but that doesn’t mean it is perfect.

Newborn Screening: This Tiny Test is a Big Job That’s Always Improving | www.aphlblog.org

Last year a series in the Milwaukee Journal Sentinel drew public attention to some of the areas in which the newborn screening program needed to improve. That story and a recent editorial in USA Today focused on the amount of time between specimen collection, testing and reporting of results. Timeliness is critical for the newborn screening program to be a success, and we acknowledge the valuable contribution these articles have made.

Continual quality improvements – including timeliness – have been and continue to be a priority for public health laboratories, the agencies responsible for identifying and reporting positive newborn screening test results. In fact, APHL recognized the efforts of many state programs during the 2014 Newborn Screening and Genetic Testing Symposium. Many state newborn screening programs have conducted hospital site visits; conducted targeted outreach to lagging performers and publicly recognized top performers; provided hospitals and other specimen submitters with guidelines for collection of specimens; reinforced regulatory requirements; and provided training for use of overnight courier shipping software. Program changes like these in states around the country have significantly improved specimen transit times.

APHL and its members have collaborated with the Department of Health and Human Services Discretionary Advisory Committee on Heritable Disorders in Newborns and Children to develop updated recommendations on timeliness guidelines. These activities occur in tandem with a series of other quality improvement activities including proficiency testing, evaluation of emerging technologies and implementation of quality practices pertaining to screening, confirmation and results reporting.

I am proud of the work state newborn screening programs are doing every day. We do not take the public health laboratories’ role in this life-saving program lightly, and I thank the staff for their dedication to improving it. Our focus is on the babies – it always has been and always will be.