Public health laboratories have established expertise in the use and implementation of next-generation sequencing for several applications, including food safety and infectious disease surveillance and outbreak responses. Now, APHL is working to support the emerging use of sequencing technology in additional laboratory disciplines, such as newborn screening and environmental health.
Use of next-generation sequencing is expanding in newborn screening. For conditions added to the recommended uniform screening panel in the past five to seven years, such as spinal muscular atrophy (SMA) and X-linked adrenoleukodystrophy (XALD), sequencing can provide important clinical information for a child’s healthcare providers, said Guisou Zarbalian, MPH, of APHL’s Newborn Screening and Genetics (NSG) team.
“Some of these newer disorders require more elaborate screening methodologies for appropriate characterization and more refined risk assessment,” explained NSG deputy director Sikha Singh, MHS, PMP. “As detection of these disorders becomes more complex, it becomes extremely important to collect that body of evidence so we can continue to refine and make improvements to the risk assessment component of what we do in public health.”
APHL is also monitoring trends in the use of sequencing in newborn screening occurring outside of public health, to stay engaged in the broader community of newborn healthcare and ensure that public health systems are providing the most complete screening efforts possible. As the technology develops in newborn screening, “I think there is a role for public health laboratories to play, especially with regard to population screening and surveillance,” said Jelili Ojodu, MPH, NSG director.
Looking ahead, the APHL team is working to anticipate the types of questions that will come up with widespread use of next-generation sequencing and to be prepared to handle issues such as data security, privacy and how to use sequencing information to guide children’s care.
“We want to ensure that APHL is at the forefront of understanding the implications of the use of this technology and, ultimately, in helping newborns who may be affected by any of these complex conditions receive appropriate care as quickly as possible,” Ojodu said.
Next-generation sequencing is finding a foothold in environmental public health as well. Until recently, most of APHL’s work in this area has focused on chemical testing, said Julianne Nassif, MS, APHL’s director of Environmental Health. That has shifted with COVID-19. “With the advent of the pandemic, we received funding for wastewater surveillance, which has opened up a whole new area for us,” Nassif said.
Working with the US Centers for Disease Control and Prevention’s (CDC’s) National Wastewater Surveillance System team, APHL developed a testing guide and a community of practice for members. In just a few years, “it’s evolved into a really robust program,” she said, with technical user groups and many collaborations with epidemiologists, municipal wastewater utilities, federal agencies, academic institutions and corporate partners.
As more APHL member laboratories are establishing sequencing-based wastewater surveillance efforts, there is potential to extend that investment and infrastructure into environmental microbiology as well. APHL is now working with CDC to coordinate technical assistance and materials to support the use of testing—including sequencing—for outbreak response for a variety of environmental pathogens. “There’s a lot of opportunity for sequencing in the future,” said Nassif, “not only for wastewater surveillance, but for this environmental microbiology work as well.”