A case for rapid genomic testing in every NICU

Kennedy was born in August 2025 after what her dad and mom, John and Diana, describe as an uneventful being pregnant. Quickly after supply, although, she struggled to breathe and feed. What adopted was a sequence of hospital stays, a fancy prognosis, and a glimpse into how fast genomic testing can ship solutions that information crucial selections and probably rework NICU care.

A uncommon situation, fast solutions

Inside days of her start, Kennedy was transferred from her native hospital in New Hampshire to a bigger regional medical middle, the place medical doctors recognized her with pyriform aperture stenosis (PAS), a uncommon situation that narrows the nasal passages. Recognizing she wanted specialised otolaryngology care, the workforce transferred her to Boston Kids’s Hospital, the place she was admitted to the neonatal intensive care unit (NICU) for analysis.

Her arrival at Boston Kids’s got here at an opportune time — simply as Dr. Monica Wojcik, director of the Neonatal Genomics Program, genetic counselor Gwendolyn Strickland, and the remainder of the Neonatal Genomics workforce have been launching their Seq4NICUs research, a fast complete genome sequencing protocol to determine potential genetic situations in infants that may in any other case go undetected. Their purpose: to enhance entry to well timed diagnostics for all households. In contrast to normal genetic testing, which seems to be for a small variety of recognized gene adjustments, genomic sequencing supplies a extra complete view and broader perception into potential causes of unexplained situations by studying an individual’s full genetic make-up.

Why fast testing issues

Traditionally, genomic sequencing has been sluggish, pricey, and restricted to sufferers displaying particular signs, reminiscent of muscle weakness, seizures, and congenital anomalies. However throughout the final 10 years, fast genome testing — which might ship ends in days as an alternative of months — has grow to be extra extensively adopted, particularly in higher-acuity NICUs caring for probably the most critically ailing infants. Nevertheless, many NICUs nonetheless use an “opt-in” or selective mannequin, providing genetic testing solely to infants who present clear indicators of a genetic situation and the place the prognosis is more likely to affect NICU care. This method can miss circumstances. In distinction, a common method to sequencing provides fast genomic testing to each toddler within the NICU, no matter their purpose for admission. “Some signs that appear like they’re as a result of prematurity or an infection [two leading causes for admittance to a NICU] would possibly even have a genetic trigger; or we could suspect a genetic situation however defer the precise testing to after NICU discharge.” Wojcik says. “However the NICU is a pivotal window of time for prognosis.”

Kennedy’s exams got here again inside per week and revealed SOX6 syndrome, an especially uncommon and complicated genetic situation that may be related to developmental delays, distinctive facial options, and irregular cranium improvement. Fewer than two dozen circumstances of SOX6 syndrome have been recognized globally. Kennedy’s extra presentation of PAS will be the first of its sort ever reported in reference to the syndrome.

 “We don’t know an entire lot about SOX6,” John says. “However Kennedy’s case would possibly assist her medical doctors and researchers be taught extra.”

Wojcik says it’s this collaborative mindset that’s on the coronary heart of the common sequencing method: constructing data case by case along with NICU households, in order that finally uncommon situations grow to be higher understood and extra treatable.

Addressing fairness and long-term outcomes

Common sequencing availability additionally addresses a persistent problem in well being care: inequity in entry to diagnostic testing. A 2022 study by Wojcik and colleagues shows families facing barriers to health care typically battle to attend genetics clinic appointments, making it tougher to proceed genomic care after NICU discharge. By providing testing to all undiagnosed infants whereas they’re within the NICU, common fast sequencing goals to stage the enjoying subject, serving to households plan and join with help, and enabling medical doctors to tailor care whereas avoiding pointless exams.

In Kennedy’s case, receiving her prognosis early has allowed her care workforce to observe for different potential issues related to SOX6. John and Diana are arranging feeding remedy and early intervention companies close to their residence in New Hampshire whereas remaining in shut contact with the genetics and ENT groups at Boston Kids’s.

Kennedy is now 2 months previous and thriving at residence. “She’s doing rather well,” says Diana. “She has to work exhausting to feed, however she’s off the feeding tube and gaining weight. She’s very snorty, however she’s very cute.”

Looking forward to a brand new customary of care

Wojcik and workforce proceed to guage how common entry to genomic sequencing might be carried out on a bigger scale, with the hope that if extra NICUs undertake the mannequin, fast genomic sequencing may grow to be an ordinary facet of care for each toddler who wants it.

For John and Diana, the flexibility to get solutions shortly, join with specialists, and contribute to life-changing analysis has had a profound influence.

“Kennedy’s given us the prospect to assist others,” says John. “If her story helps only one different household, it’s price it.”

Study extra about neonatal genetic testing at Boston Children’s Hospital.