NATIONAL HARBOR, Maryland—Newborn sequencing may shorten a patient’s diagnostic odyssey, and as more newborns participate in sequencing, it may be useful in gaining the support of key stakeholders, experts said at the 2023 World Orphan Drug Congress (WODC) here.

Kate Donigan, PhD, senior director of science and regulatory policy at Sarepta Therapeutics, pointed out that for patients with Duchenne muscular dystrophy (DMD), the average age of diagnosis has been around 5 years for some time.

“For Duchenne, muscle damage begins in utero, so really identifying those kids early and getting them access to treatments that they are eligible for and access to supportive services is critical,” she said.

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“There have been concerted efforts from both [the Centers for Disease Control and Prevention] and the American Academy of Pediatrics in the last 20 years to bring that age of diagnosing down, with educational efforts with parents and clinicians. Those efforts have largely been unsuccessful, so really looking toward newborn screening and newborn sequencing and whole genome sequencing as providing the potential to eliminate the diagnostic odyssey for patients is really exciting,” Dr. Donigan continued.

“Realizing that we are at the threshold of the cost of a whole genome sequence really being equivalent to the cost of conventional newborn screening in a lot of states is very exciting,” she said.

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Tom Defay, PhD, deputy head of diagnostics strategy and development for Alexion Pharmaceuticals, suggested the medical community is at a tipping point. “What we are seeing is a way to transform diagnostics in a profound way,” he said.

Dr. Defay also noted that scaling to 10,000 newborns, and to 100,000 newborns, especially, is significant in demonstrating the value of newborn screening to stakeholders.

Dr. Donigan pointed out that assessing partnerships generally calls for input from medical affairs, patient affairs, and government affairs to ensure that these partnerships align with the company’s patient-focused mission.

Jennifer Panagoulias, chief regulatory and compliance officer of Mahzi Therapeutics, and colleagues highlighted the importance of partnering with patient advocacy groups.

“We may be evaluating opportunities to learn more about prevalence and phenotype based on genetic screening data, but we are also trying to understand what that provider offers our patient community and if there is an opportunity for the patient community to partner with them directly and help with educational efforts in their community or with access to testing,” Panagoulias said.

Dr. Donigan noted the importance of educating new parents and families about the significance of newborn sequencing and that screening is not just about today, but also for the development of future therapies and to aid data collection that could be used to pinpoint other diseases in years to come.

When addressing the topic of “inspiring” diverse stakeholders, Panagoulias noted that while much of her work focuses on Angelman syndrome and the rare disease is not yet included in many initiatives, that should not deter participation in these efforts.

“Looking to the future, we are generating these data to benefit the community at large; we are very much interested in supporting and educating around that because we see it as part of our future, and so we hope in the long term it will bring down the time to diagnosis,” Panagoulias said.


Biotech and pharma partnerships for successful (and fast) pathways to treatment of patients diagnosis. Presented at: World Orphan Drug Congress USA 2023: May 24, 2023; National Harbor, MD