Breaking Down Genetic Testing: What Patients and Families Need to Know

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Breaking Down Genetic Testing: What Patients and Families Need to Know

Genetic testing can be a powerful tool for diagnosing rare diseases, understanding hereditary risks, and guiding treatment decisions. However, for many patients and families, the process can seem overwhelming or confusing. This blog will break down what genetic testing is, the different types available, how to access testing, and what to do with the results.

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Sometimes It’s a Zebra

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Sometimes It’s a Zebra

In medical school many doctors are taught the old saying “when you hear hoof beats, think horses, not zebras”, which means that doctors should generally consider the most likely possibility first when thinking of a diagnosis.

But what do you do when it is a zebra?

What makes a disease rare? In the United States, the Orphan Drug Act defines a disease as rare if it affects fewer than 200,000 Americans or less than one in 2,000 people. A disease is considered ultra-rare if it affects less than one in 50,000 people.

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