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Nearly every baby born in the United States now undergoes genetic newborn screening. But did you know that those tests only cover a fraction of their genes?  Each state has distinct requirements, but these newborn tests typically cover 30 to 50 diseases. For some children, that testing is sufficient. However, humans have approximately 20,000 genes, and researchers estimate that over 10,000 genetic disorders exist. Essentially, newborn screening isn’t giving you [...]

It’s incredibly frustrating to leave a doctor’s office feeling like they didn’t listen or understand your concerns. You may feel disheartened, helpless or frustrated, especially when dealing with chronic symptoms or a condition that severely impacts your quality of life. If this sounds familiar, you’re not alone. If you don’t feel like your doctor is helping or listening to your needs, there are steps you can take to advocate for [...]

When to Get Genetic Evaluation and Testing for Kidney Disease If you’re considering genetic testing for kidney disease, you probably already know the kidneys play a big role in our health. They filter waste products, toxins, and excess water and salt from our blood to form urine. This process regulates blood pressure and fluid and electrolyte balances, impacting our muscles, nerves, and heart. They also help us produce red blood [...]

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 [...]