10 facts about genetic testing for rare disease

1. There are an estimated 300-400 million people worldwide living with a rare disease, while individually rare, these diseases collectively impact 3-5% of the population​.¹

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2. 72% of rare diseases are genetic in origin, meaning there is a disease-causing variant in the individual’s DNA.¹ 

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3. As of today, on average, patients living with a rare disease wait 5-7 years for an accurate diagnosis, see up to 8 physicians, and experience 2 to 3 misdiagnoses.² 

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4. Over 6000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.¹

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5. Genetic testing is necessary to determine if symptoms are caused by a genetic variant and to determine genetic risks for relatives. 

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6. Clinical genetic tests are different from direct-to-consumer (DTC) genetic tests. DTC tests cannot determine for certain whether or not you will get a disease or have a disease.

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7. Clinical genetic tests must be ordered by a provider.

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8. Clinical genetic tests include:
   1. Single Gene Testing
   2. Genetic Panels
   3. Whole-Genome (WGS) and Whole-Exome Sequencing (WES)³ 

To learn more about each of these tests, visit our Genetic testing for rare disease article.

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9. Clinical genetic tests can be performed at home, using a saliva or buccal (cheek) swab, or at a lab using the same sample types or, where required, blood.

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10. Patients can apply for free, clinical genetic tests through Probably Genetic without going through their provider. A telehealth provider, employed by Probably Genetic, will sign-off on all appropriate orders.  

To learn more about how Probably Genetic is helping individuals through patient-first, free genetic testing programs please check out our full summary here.