While routine newborn screening has been a successful part of our nation’s public health system for over 55 years, newborn screening now has the promise to grow exponentially as scientists and clinicians gain better testing technologies and revolutionary therapeutics for genetic disorders.
During the keynote session at the APHL 2020 Newborn Screening Virtual Symposium, presenters urged attendees – public health experts and scientists across the system – to challenge the current paradigm by asking questions and engaging in dialogue about maintaining and expanding this vital public health service. The thought-provoking discussion encouraged attendees to consider how to responsibly and sustainably move forward as they learned about past, current and future activities galvanizing the growing reach of newborn screening.
Susan Berry, MD, a clinician and professor at the University of Minnesota, opened the keynote panel by offering insight into the evolution of the system. “Newborn screening is a system not a test; it is a system not an event,” emphasized Dr. Berry, a nod to the considerations across the spectrum that are critical for child health, from education to specimen collection, testing, diagnosis and ongoing treatment.
According to Dr. Berry, expansion of the scope of newborn screening is not without its challenges, noting that, “any new additions must be highly consequent because it’s not the initial risk assessment that constitutes a screening but everything else that happens for that baby, whether the outcomes are positive or negative.” She went on to say, “There should be a test with good specificity and there should be demonstrated benefit of early detection, timely intervention and efficacious treatment of the condition being tested.”
Shawn McCandless, MD, a pediatrician specializing in medical genetics and genomics at the Children’s Hospital Colorado Anschutz Medical Campus, agreed with Dr. Berry and expanded upon her presentation by considering how to balance the growing drivers of newborn screening with the challenges. Drawing on Dr. Berry’s metaphor that what experts know is only the tip of the iceberg, Dr. McCandless prompted lively discussion in the chat feature of the virtual Symposium platform to posit that our understanding of the evolving nature of newborn screening is far outweighed by the factors that currently remain unknown. He emphasized the need for asking questions about things scientists and clinicians don’t even know they don’t know related to these new conditions.
Dr. McCandless also spoke on the challenges of mandating newborn screening and noted that it is not the first sound public health intervention to run into challenges in maintaining or gaining universal acceptance. He cited seatbelts on buses as well as motorcycle helmets, which have not achieved universal mandates in the United States. Having these difficult conversations, Dr. McCandless explained, can help newborn screening professionals “think about the concerns that may lead to reduced public acceptance of compulsory newborn screening.”
Presenting more though-provoking points on the challenges of compulsory newborn screening and other ethical considerations was Aaron Goldenberg, PhD, MA, MPH, bioethicist at Case Western Reserve University School of Medicine. “Newborn screening is at a crossroads,” said Dr. Goldenberg, and “ethics should not be seen as barriers, but rather as partners to protect the benefit of newborn screening.” Answering complex questions about adding new conditions will require increased engagement from stakeholders across the newborn screening system.
Dr. Goldenberg wants parents to say “yes” to newborn screening for their baby. But he was quick to note that, “a dedication to compulsory screening without public support, without dialogue, could lead to actually more problems for [newborn screening] programs than benefits to programs and ultimately could harm newborns and programs.” He went on to say that this dialogue should not only include more parents but also more state programs, which are frequently left out of the discussion.
The keynote panel closed with the promise of future sessions throughout the APHL 2020 Newborn Screening Virtual Symposium further delving into these important topics around technology, treatment, ethics, parent perspectives and state-based experiences. Topics that challenge the paradigm and encourage difficult discussions are on the agenda throughout the Symposium.
Sapna Kundra, MPH, freelance writer with an expertise in global public health systems strengthening.
APHL 2020 Newborn Screening Virtual Symposium is being held online October 20-November 12, 2020. View the final program and follow #APHLNBS to join the conversation.