by Lacie Mehr
Editor’s Note: I am excited to present the following blog that brings up several important points about the new TNT/TBS show “Chasing the Cure” and similar shows such as Netflix’s “Diagnosis”. At ThinkGenetic, we know that there are thousands of people struggling to find answers to their medical problems and this article focuses on how they can find help in their search. Please leave a comment with your thoughts on this piece, and perhaps future topics you’d like addressed as well. We are listening! –DJL
Reality TV That Really Changes Lives?
Photo credit: https://twitter.com/chasingthecure
“Chasing the Cure” is TNT/TBS’s new TV show designed to help people searching for an answer to their chronic medical problems. The show brings together doctors from different medical specialties to try to identify a diagnosis and, hopefully, a cure for the featured patients. The show also uses social media or crowdsourcing as it posts cases on-line for public comment. Anne Curry, the host, encourages comments and hypotheses , particularly if people have previously seen similar health presentations. This combination makes for an interesting show… Who doesn’t like solving a mystery or puzzle? The popularity of “Chasing the Cure” mirrors the growing healthcare shift towards patients as active partners in their medical care. A great example of this shift is the popularity of direct-to-consumer genetic tests and consumer targeted websites that help the average person help find possible reasons for their health concerns. The show also reminds people that genetics often may be the underlying cause of chronic health issues. In fact, during the first case that aired, diagnoses suggested were rare, genetic diseases such hereditary spastic paraplegia and limb girdle muscular dystrophy.
Why Is it SO Important For People on the Show to Find Diagnosis?
Having an answer to a constellation of health problems or even a single, serious health problem is incredibly important. Why? Because a diagnosis can help doctors, patients, and families understand what medications and treatments might work best. A diagnosis can tell you what preventive care and monitoring can make the biggest difference in quality of life and overall outcome. Even if there is no specific treatment for an identified disease, patients can talk with others living with the same diagnosis for support and medical and life tips. Forming a community is extremely important to decrease the isolation of living with a chronic disease! Patients without a diagnosis or community tend to feel isolated and misunderstood. The support and camaraderie that forms from a support group aids in overall well being and quality of life. At the most basic level, having a diagnosis also increases the potential for a cure by highlighting the need for therapy and the presence of a population of people to study into that particular condition.
Photo credit: https://www.chasingthecurelive.com/
Don’t Forget the Genetic Counseling
The first episode of “Chasing the Cure,” featured a patient that had wanted to undergo whole genome genetic testing only to be denied by her insurance. “Chasing the Cure” then offered to perform this whole genome genetic testing for her. Although the host did ask if the patient wanted to go forward with this test, they did not show one very important step: genetic counseling. Genetic testing, especially in the case of whole genome sequencing, has exceptions and special considerations that need to be fully explained to patients before the undertaking. For example, does the patient want every piece of information from the test? The test may find information on possible health conditions unrelated to her muscle weakness like a predisposition to early onset Alzheimer’s disease or breast cancer. What if the test finds that they are adopted? What if the test finds a confusing variant of unknown significance? Patients need to understand the type of answers that may be returned from the test so that they can choose what information they actually want to know and what to do next. Genetic professionals such as geneticists and genetic counselors are the best resources to help explain the confusing topic of genetics, genetic testing, and how that relates to a patient’s health. Hopefully genetic counseling occurred, but didn’t make the TV show. You can find more information on genetic counseling at the National Society of Genetic Counselors’ consumer website: http://www.aboutgeneticcounselors.com/
Your Own Episode of “Chasing the Cure”
Genetic counselors and geneticists are no strangers to disease odysseys and rare health presentations. Most of the time it is these genetic professionals who help end the diagnostic odysseys that patients have been on for years. In fact you can have your own personal episode of “Chasing the Cure,” WITHOUT having to apply and being on TV by contacting a genetic counselor who specializes in telemedicine or is at a medical center near you. Want to broaden the scope? There are also several branches of NIH funded Undiagnosed Diseases Network (UDN) that can help your find answers as well (again, minus the TV cameras).
Not sure how to talk to your doctor about a referral to genetics or genetic counseling? Need more information about genetics or next steps? You can start small. Sites like the patient-focused ThinkGenetic.com have reliable information about living with a genetic conditions so you can feel confident talking to your doctor and you can try out the self-directed SymptomMatcher to find possible genetic causes for your genetic condition. You can even contact a ThinkGenetic Counselor who will find the answer to your inquiry. There are also options such as CrowdMed which uses a similar format as the “Chasing the Cure” concept of looking for answers to medical mysteries, but more privately.
On the whole, I love any show that involves mysteries and medicine, so I highly recommend checking out “Chasing the Cure”. Have your own medical mystery or search for answers going on? You don’t have to go on TV to find answers. I recommend checking in to a genetics referral and also checking out ThinkGenetic.com to help you on your journey.
About Lacie Mehr: Lacie Mehr is currently working on getting her Master’s degree in Genetic Counseling at Emory University. She is very passionate about genetics and loves working with patients. She has a BS in Exercise Physiology from the University of Utah and has 6 years of experience working with patients in the healthcare setting.
Excellent understanding of the need for using the wisdom of crowds in medicine. CrowdMed is a pioneer in this topic and knows how to crowdsource most effectively.