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Neurological disorders have complex and diverse manifestations. They are a challenge to diagnose and treat. By integrating genomics into the practice of neurology, we can transform the management and treatment of genetic neurological disorders. Through neurogenetics, we can move towards more precise diagnostic and therapeutic processes that reflect the genetic profiles of individual patients. Genetics can help us: Find the underlying cause of neurological disorders. Tailor treatment to maximize efficacy [...]

Genetics has the power to revolutionize every area of medicine. Take oncology. Genetic testing and evaluation can inform cancer diagnosis, preventive action, care plans, and more. Yet, healthcare systems move slowly. They can lag in adopting new treatments and diagnostic innovations. The oncology field has only scratched the surface of what's possible with genetics.  Fully integrating genomics into oncology will lead to higher-quality, precision care.  At SequenceMD, our medical team believes [...]

In the realm of rare diseases, misdiagnosis abounds. A 2023 study found that rare disease patients are misdiagnosed an average of three times and see five doctors before being accurately diagnosed. These misdiagnoses extend suffering, complicate treatment, and leave individuals and families grappling with uncertainty and frustration. How Misdiagnosis Happens Misdiagnosis stems from a myriad of factors. Rare genetic disorders, by their very nature, are unfamiliar to most doctors and [...]

In a time of continued scientific and clinical advancements, integrating genetics into healthcare holds immense promise for areas like cardiovascular medicine and care. Today, through advanced testing and analysis, medical geneticists can help patients and their families understand their genetic risk for cardiovascular disease and cardiac events. Working with a patient’s cardiologist and other care providers, a geneticist can also create prevention, monitoring, and treatment plans tailored to a patient’s [...]

Our genetic makeup not only dictates our physical traits but also influences our susceptibility to cancer and other serious health issues. In recent years, the field of genetics has emerged as a beacon of hope, offering insights that empower individuals to make informed decisions about their health. Through advanced DNA sequencing techniques and analysis, medical geneticists can identify predispositions to numerous conditions, including cancer. These genetic evaluations help patients take [...]

A Costly, Expensive and Frustrating Quest for a Diagnosis An experience many of our patients share is one of repeat visits to hospitals, care providers, and specialty practices for tests and examinations. For people with rare diseases, an accurate diagnosis takes 5 to 8 years on average. Others wait decades. Despite all the time spent in doctors’ offices, these patients’ symptoms seem unrelated and unexplainable before they undergo genetic evaluation. [...]