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Rapid genomic testing helped diagnose Kennedy\u2019s rare condition, guide her care, and shows the benefit of universal genomic sequencing in NICUs.\t\t\t\t\t\t<\/p>\n\t\t\t\t\t\t\tRapid genomic testing helped diagnose Kennedy\u2019s rare condition, guide her care, and shows the benefit of universal genomic sequencing in NICUs.\t\t\t\t\t\t<\/p>\n
Kennedy was born in August 2025 after what her parents, John and Diana, describe as an uneventful pregnancy. Soon after delivery, though, she struggled to breathe and feed. What followed was a series of hospital stays, a complex diagnosis, and a glimpse into how rapid genomic testing can deliver answers that guide critical decisions and potentially transform NICU care.<\/p>\n
A rare condition, rapid answers<\/p>\n
Within days of her birth, Kennedy was transferred from her local hospital in New Hampshire to a larger regional medical center, where doctors diagnosed her with pyriform aperture stenosis (PAS), a rare condition that narrows the nasal passages. Recognizing she needed specialized otolaryngology care<\/a>, the team transferred her to Boston Children\u2019s Hospital, where she was admitted to the neonatal intensive care unit (NICU)<\/a> for evaluation.<\/p>\n Her arrival at Boston Children\u2019s came at an opportune time \u2014 just as Dr. Monica Wojcik<\/a>, director of the Neonatal Genomics Program<\/a>, genetic counselor Gwendolyn Strickland, and the rest of the Neonatal Genomics team were launching their Seq4NICUs study, a rapid whole genome sequencing protocol to identify potential genetic conditions in infants that might otherwise go undetected. Their goal: to improve access to timely diagnostics for all families. Unlike general genetic testing, which looks for a small number of known gene changes, genomic sequencing provides a more comprehensive view and broader insight into potential causes of unexplained conditions by reading a person\u2019s full genetic makeup.<\/p>\n Why rapid testing matters<\/p>\n Historically, genomic sequencing has been slow, costly, and limited to patients showing specific symptoms, such as muscle weakness<\/a>, seizures<\/a>, and congenital anomalies<\/a>. But within the last 10 years, rapid genome testing \u2014 which can deliver results in days instead of months \u2014 has become more widely adopted, especially in higher-acuity NICUs caring for the most critically ill infants. However, many NICUs still use an \u201copt-in\u201d or selective model, offering genetic testing only to infants who show clear signs of a genetic condition and where the diagnosis is likely to influence NICU care. This approach can miss cases. In contrast, a universal approach to sequencing offers rapid genomic testing to every infant in the NICU, regardless of their reason for admission. \u201cSome symptoms that seem like they\u2019re due to prematurity<\/a> or infection [two leading causes for admittance to a NICU] might actually have a genetic cause; or we may suspect a genetic condition but defer the actual testing to after NICU discharge.\u201d Wojcik says. \u201cBut the NICU is a pivotal window of time for diagnosis.\u201d<\/p>\n Kennedy\u2019s tests came back within a week and revealed SOX6 syndrome, an extremely rare and complex genetic condition that can be associated with developmental delays<\/a>, unique facial features, and abnormal skull development. Fewer than two dozen cases of SOX6 syndrome have been identified globally. Kennedy\u2019s additional presentation of PAS may be the first of its kind ever reported in connection with the syndrome.<\/p>\n \u00a0\u201cWe don\u2019t know a whole lot about SOX6,\u201d John says. \u201cBut Kennedy\u2019s case might help her doctors and researchers learn more.\u201d<\/p>\n Wojcik says it\u2019s this collaborative mindset that\u2019s at the heart of the universal sequencing approach: building knowledge case by case together with NICU families, so that eventually rare conditions become better understood and more treatable.<\/p>\n Addressing equity and long-term outcomes<\/p>\n![\"Four](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/10\/NBM_33326_Rapid_Genome_Sequencing_RI_Blog-2-724x481.jpg\")
Wojcik and her team are working to improve NICU care through rapid genomic testing \u2014 enabling early diagnoses, guiding personalized treatment, and ensuring that every baby has access to answers. (Photo: Michael Goderre\/Boston Children\u2019s Hospital)<\/p>\n