What Is Rare Disease Day?

What is Rare Disease Day?

Rare Disease Day became an international movement in 2009, and it is now held every year on the last day of February in countries around the world. Despite that growth, more support is still needed. Patients and families often struggle to make sense of a rare disease.

Historically, little information was available and diagnosis was difficult. That is changing. With consumer genetics, it is now far easier for people to investigate whether they or a loved one may have a rare disease.

Learn more about rare diseases

A rare disease is a disorder that affects a small share of the population at any given time. In the United States, a disease is considered rare if it affects fewer than 200,000 people. In the European Union, the threshold is fewer than 1 in 2,000 people.

Rare diseases are sometimes called orphan diseases, a term tied to the Orphan Drug Act of 1983, which created incentives to develop treatments for these conditions.

Rare diseases can be inherited or not. Most are thought to be inherited, meaning they are caused by changes in genes or chromosomes. Many are progressive and some are disabling. Diagnosis is often difficult, and clinicians frequently order genetic tests to confirm it. Earlier diagnosis can lead to earlier care, which may reduce the risk of long term complications.

How can I test for rare diseases?

If you are concerned that a loved one may have, or may pass on, a rare disease, DNA testing and analysis can help. A DNA test can show that you carry a variant for a rare disease, meaning you are not affected yourself but your children could be.

With the Next-Gen Disease Screen on Sequencing, you can analyze your DNA across a large set of rare diseases, syndromes, conditions, and traits. For the most complete analysis, pair it with whole genome sequencing, which reads 100% of your DNA and all of your over 30,000 genes, since tests that read only part of your DNA can limit how much the screen can analyze.

To learn more about how genetic testing is used to detect rare conditions, see our guide to genetic testing for rare diseases.