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Newborn Screenings: Leading Genetics in a Rural State
For most families and newborn babies across the U.S., a small prick to the foot, or what is better known as a “metabolic newborn screening,” is common practice. Most often, a baby is born, tests are conducted, and then a family is released to head home – hands full, hearts fuller, and two healthy little feet cuter. But for a few Montana families each year, this routine blood test collected on special paper and sent to the Montana State Lab is flagged with something different. Something special, but potentially serious. Something that just may make this child unique for the rest of their lives – an abnormal analyte that could reflect a rare genetic or metabolic condition. And though rare (of the 4 million babies tested across the U.S. each year, only 12,000* are diagnosed with a genetic disorder; approximately 2-5 in the state of Montana), for those families diagnosed with a rare condition, the condition soon becomes their reality. A reality that our world-renowned genetics team specializes in each and every day.
As the only genetics clinic in Montana, Shodair has the unique challenge of providing genetic and metabolic care, support, and education for more than one million people in a frontier state. But with that challenge also comes immense opportunity. Like identifying a diagnosis that allows the patient’s medical team to choose the best treatment. Walking holistically alongside families who have an inherited genetic disorder and connecting them to individualized resources and community. Or, in the case of newborn screenings, providing lifesaving diagnoses and care for infants in their first weeks of life – an initiative that is especially impactful in a rural state like Montana, where access to emergency medical care can often be limited. And an initiative Shodair’s team is proud to lead.
“One of our goals in the Newborn Screening Program is to detect, diagnose, and ultimately come up with an evidence-based game plan to ensure that every child has the best opportunity to live to their absolute health potential,” said Caitlyn Patera, Genetic Nurse Practitioner at Shodair. “As health care providers, we want all children to have a quality of life, and the first step is knowing what possible challenges we may have to conquer – and newborn screenings help us to do just that.”
From the moment a newborn screening is flagged in Montana, Shodair’s team, in partnership with Colorado Children’s Hospital, hits the ground running advocating on behalf of a patient. The first step: achieving a diagnosis. Is a genetic or metabolic condition present? Are there follow-up tests that need to be coordinated? What interventions and recommendations need to be relayed to the primary care provider? If a diagnosis is confirmed, a patient often integrates into Shodair’s long-term metabolic program – a care model that will support the patient for the rest of their lives (or as long as needed). From navigating special formulas and diet modifications to providing genetic counseling and ongoing evidence-based education, Shodair’s specialists quickly morph into both healthcare provider and number-one fan – linking arms with a child’s family during the scariest moments of a family’s life and providing a foundation for hope and confidence. A skillset that moves far beyond science.
“Having a timely diagnosis and a comprehensive intervention plan does not just ensure a healthy future, it can simply mean LIFE for some of our patients,” explains Patera. “Only sometimes can a family history guide us in a particular direction. So, any case we can identify a life-altering diagnosis in a timely way is a success story, giving us and the families an upper hand.”
While not every flagged newborn screen in Montana leads to a confirmed diagnosis (in fact, most are false positives), the around-the-clock care, testing, and support that Shodair provides is felt across the state every day. It’s the confidence a primary care provider feels when implementing a care plan related to a genetic or a metabolic diagnosis. It’s the overwhelming relief a patient has leaving their appointment with immediate test results and knowing someone has their back. It’s the reassurance that Shodair will continue to be creative when providing access to health care to Montana families. And, above all, it’s supporting life – joyful, meaningful, and hope-giving life.
About Shodair’s Genetics Department
Equipped with an onsite, state-of-the-art laboratory, Shodair Children’s Hospital’s Department of Medical Genetics works to meet the genetic needs of Montanans through diagnosis, consultation, support for families, outreach, scholarship, and education. To learn more about Shodair’s genetics program or services, visit Shodair.org/genetics or schedule an in-person or virtual consultation at (406) 444-1016.
