How Genomic Diagnosis is Transforming Patient Care
Genomic testing is reshaping healthcare by offering precise diagnoses that can guide treatment plans tailored to individual patients. I often get asked ”what’s the benefit of genetic testing?”. People are often seeking cures for their genetic health conditions and I often caution that most are not curable, but having an understanding of your genetics can open up a whole new world.
Melbourne Genomics highlights six impactful cases that demonstrate how genomic diagnosis has improved patient outcomes:
Seizures in a child: A young boy experiencing unexplained seizures underwent various tests with no success. Genomic sequencing revealed a rare genetic disorder, allowing doctors to offer a personalized treatment plan that significantly reduced his seizures and improved his quality of life.
Developmental delay in a boy: A young boy struggling with significant developmental delays was finally diagnosed through genomic testing, which revealed a genetic mutation responsible for his symptoms. The diagnosis allowed clinicians to provide targeted interventions, improving his developmental progress and overall wellbeing.
Personalised cancer treatment: A woman with an advanced form of cancer underwent genomic testing, which identified specific mutations in her tumor. This led to a tailored treatment plan using therapies designed to target those mutations, offering a more effective treatment and a better prognosis.
Heart condition diagnosis: A man with a suspected heart condition received a genomic test that identified the genetic cause of his condition. This allowed him to receive early, life-saving interventions, preventing further complications and enabling his family members to be screened for the same condition.
A child with complex symptoms: After numerous failed tests, a child with complex, undiagnosed symptoms received a genomic diagnosis that identified the underlying genetic condition. The accurate diagnosis led to a treatment plan that eased her symptoms and improved her quality of life, after years of uncertainty.
Proactive management of a rare disease: Genomic testing identified a genetic mutation in a patient that indicated a predisposition to a rare, life-threatening disease. This early detection allowed doctors to implement proactive management, helping prevent the development of the disease before symptoms appeared.
These six cases show how genomic diagnosis not only aids in finding the root cause of medical conditions but also facilitates personalised, targeted treatments that improve patient outcomes and quality of life.
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