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Paving the Path to a Brighter Future: The Critical Role of Genetic Testing in Early Rare Disease Diagnosis

Welcoming a new child into the family invites a world brimming with hopes, dreams, and aspirations for their future. However, some parents face an unexpected, challenging journey - traversing through the complex realm of rare diseases. 

The groundbreaking Delayed Diagnosis Study by the EveryLife Foundation for Rare Diseases recently illuminated the profound economic and emotional impact that a delay in diagnosing rare diseases can impose on families and the healthcare system alike. As we dive into the findings of this pivotal study, let’s explore how preemptive genetic testing through FORESITE 360 can become a beacon of hope, navigating parents through these uncertain terrains.

A Close Look at the Economic Avalanche

With a spotlight on seven rare diseases, the study meticulously outlined the staggering economic repercussions of delayed diagnosis - a burden that astonishingly extends up to $517,000 in avoidable costs per patient. 

The typical six-year-long diagnostic journey doesn’t merely translate to a financial strain but amplifies the emotional, physical, and social toll on children and their families. 


The economic impact cataloged in the study stems from three key areas: direct medical costs, productivity loss (indirect costs), and non-medical healthcare costs. 

Encompassing elements from physician visits and medication to home modifications and transportation, these costs infiltrate every facet of a family’s life. 

Navigating Through Diagnostic Odyssey with FORESITE 360

In light of these findings, genetic testing emerges as a fundamental tool to circumvent these challenges, presenting an alternative pathway to early diagnosis and effective management of rare diseases. The aspiration is simple yet profound: to ensure that every child is allowed to thrive by preempting and mitigating potential health challenges through early, accurate diagnosis.

FORESITE 360 as Your Compass

Embarking on the journey with FORESITE 360 allows parents to weave through the potential complexities of rare diseases with informed, anticipative steps. By integrating cutting-edge technology and groundbreaking genetic screening, FORESITE 360 opens doors to:

  • Early access to pivotal therapies and treatments
  • Averting or delaying disease complications and physical disabilities
  • Sidelining avoidable, often financially-draining services and procedures

The ensuing benefit is not merely confined to reduced economic strain but extends into enhancing the quality of life for children and their families, ensuring they traverse through a path enriched with informed healthcare decisions and supportive therapeutic interventions.

A Call to New Parents

To every new parent navigating through the joys and challenges of welcoming a new life into their world, the findings from the Delayed Diagnosis Study present a poignant message. Early diagnosis, afforded by genetic testing through FORESITE 360, can dramatically reshape the journey ahead, ensuring that every child steps into a future where their health and wellbeing are not only safeguarded but fervently championed.

In the warmth of embracing new life, let’s empower ourselves with knowledge, technology, and foresight, ensuring our children are not embarking on a lengthy journey of delayed diagnosis and missed opportunities. The path has been illuminated by studies and technological advancements like FORESITE 360, enabling us to traverse from mere awareness to proactive, tangible action.


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