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Rare Disease Day: A chance to reflect on the impact of newborn genetic testing

Rare Disease Day, February 29th, 2024, serves as a poignant reminder of the challenges faced by those affected by uncommon medical conditions. For patients, accurate and timely diagnosis of these disorders is crucial for effective treatment. For healthcare providers, it’s a day to reflect on the advancements and the ongoing needs in the diagnosis and treatment of these conditions. Improved diagnostic tools can play a life-changing role for patients suffering from these rare conditions.

Newborns with genetic conditions, so young and just starting to show symptoms, rely entirely on vigilant observation from their healthcare providers and advanced diagnostic methods. Diagnosing rare genetic disorders in newborns is an intricate and challenging task. Healthcare providers often face an uphill battle in identifying these rare conditions early enough to make a significant difference in treatment and management. NewbornDxTM Advanced Sequencing Evaluation from Athena Diagnostics employs innovative methodologies for 1,722 clinically relevant genes to provide a timely genetic diagnosis in newborns with rare disease and enables healthcare professionals to tailor treatment plans, offer early interventions and provide families with a clearer understanding of the condition. NewbornDx allows healthcare providers to take action and manage their patients with immediacy.

Emily Partack

Emily Partack, a dedicated genetic counselor at Athena Diagnostics, puts her heart and soul into helping newborns that need rapid genetic diagnoses for treatment and planning. Emily was motivated to become a genetic counselor because her family experienced the devastating effects of a rare disease when Emily’s sister passed away from Spinal Muscular Atrophy (SMA) type I in the 80s. Back then, a diagnosis of SMA type 1 resulted in near certain death in infancy, but today, incredible scientific advancements have led to numerous life-saving treatments for this condition, and it will soon be included in newborn screening programs across all 50 states. The SMA story is proof of the hope that exists for other rare genetic diseases, and the importance of obtaining accurate diagnoses in a timely manner. Emily utilizes her years of experience working with infants with genetic conditions in clinic to help health care providers gain insight into the underlying cause of their patient’s symptoms. Emily and the NewbornDx team go above and beyond to get the diagnoses as rapidly as possible so newborns can receive the treatment they need to alleviate symptoms or plan for the future.

Collaboration between healthcare providers and commercial labs like Athena Diagnostics is essential. By working together, we can ensure that the latest advancements in genetic testing are accessible and used effectively. This partnership is vital in driving forward the care and outcomes for infants with rare genetic disorders, paving the way for a brighter, healthier future for these vulnerable patients.

Rare Disease Day serves as a powerful reminder of the ongoing struggles faced by individuals with rare disorders and the crucial role of advanced diagnostic tools like NewbornDx in helping with these challenges. It’s a day to celebrate progress, acknowledge the journey ahead, and recommit to the collaborative effort required to bring about transformative changes in the lives of those affected by rare genetic disorders.

Athena Diagnostics offers genetic testing for infants through adults with suspected rare conditions, neurology, and many other specialized areas.  If you have questions about genetic testing, you can call 1.866.GENE.INFO (1.866.436.3463) to speak to a genetic counselor or visit Athena Diagnostics.