According to the NIH, most rare diseases are thought to be genetic, directly caused by changes in genes or chromosomes. In honor of Rare Disease Awareness Month, we’re talking about a topic central to rare diseases...genetic testing.
While genetic testing is important especially for getting a rare diagnosis, it is critical that other patients across therapeutic areas consider getting genetic testing. According to the BMJ Quality & Safety Journal, 12 million adults who seek outpatient medical care are misdiagnosed. In some cases genetic testing can help patients arrive at the proper diagnosis.
In this Twitter chat, we are going to cover all the nuts and bolts of genetic testing -- from how it works to where you can learn more and get tested.
We hope you’ll join us for what promises to be an informative and productive chat on Thursday February 7 at 12:00 PM PT/3:00 PM ET.
Q1: Have you or anyone you know gone through genetic testing? Why?
Q2: What are the benefits/drawbacks of genetic testing?
Q3: Why might someone who doesn’t have a rare disease consider getting a genetic test?
Q4: What should patients and caregivers be aware of when considering direct-to-consumer genetic tests vs genetic tests ordered through a doctor?
Q5: What resources would you recommend to someone interested in learning more about genetic testing?
Q6: Do you think there is enough awareness about genetic testing?