People are often told not to Google their symptoms; the internet can be a scary place.
However, patients can buy a quick kit online to discover varying degrees of genetic information—some accurate, some not. With genetic testing surging in popularity, people are learning about their ancestry and discovering connections to long-lost relatives. Some companies even offer to test genetic risk factors for diseases.
According to an article from Becker’s Hospital Review, “we’re going to see more consumers demand specific courses of treatment, based on the genetic or genomic information they have. Consumers are going to drive the growth of genomics and precision medicine, faster and more efficiently than organized medicine ever could. The explosion of data, combined with hope and promise, will only continue to accelerate.”
Although direct-to-consumer genetic tests increase patient engagement, they do have medical limitations. So, what would be your reaction if a woman named Carrie approached you and asked you to test her eight-year-old daughter Jamie for hypercholesterolemia? Physicians and other medical providers have the responsibility to listen, help interpret results, and educate their patients. Let’s look at Carrie’s story.
Don’t immediately write off your patient’s concerns
Carrie did not buy an ancestry kit from Amazon. Instead, she departed for what she thought would be a typical day at the lake with her daughter, Jamie. Unfortunately, Carrie left the lake in an ambulance, convinced she had had a heart attack. The EMTs originally insisted the 44-year-old woman was far too young to be experiencing a cardiac event. Test results proved otherwise.
Thankfully, Carrie received proper medical attention, surgery to add stents, and she was on her way to recovery. However, she was worried that Jamie would suffer from the same familial history. After some family digging, Carrie discovered that her birth mother experienced a heart attack at the young age of 32. With this knowledge, she approached Jamie’s primary care physician, Dr. Early, and asked him to run a lipid panel on her eight-year-old daughter. Dr. Early was surprised and told her it was not necessary; Jamie was far too young.
“That’s what they said about me, too. And I’m sure that’s what they said about my mother,” Carrie insisted.
Eventually, she switched to a different primary care physician, Dr. Manning. Given Carrie’s background, Dr. Manning supported Carrie’s decision to run labs. Jamie’s lipid panels showed shocking results: as an active, seemingly healthy eight-year-old, her total cholesterol was 275. Carrie was right.
Encourage open dialogue about the patient’s results
The patient might not always be correct, but what if they are? In Carrie’s case, she advocated for her family, and it led to early detection. Carrie was scared because of her background and her heart attack. She was hoping to help prevent her daughter from living through the same medical journey. With the help of a supportive physician, they have a jump on Jamie’s heart health.
Even if the patient’s results do not confirm the patient’s suspicions, it’s important to empower the patient (within reason) to take control of the medical dialogue. Sometimes, even well-intended physicians, like Dr. Early, brush off patients and ignore concerns, which could be detrimental to the physician-patient relationship. Calmly reviewing medical history and discussing a patient’s risk factors help a patient feel support and provides reputable information. Dr. Manning supported Carrie and helped her achieve a plan for her daughter.
Offer feedback about next steps
Dr. Manning confirmed that Jamie had hypercholesterolemia, prescribed her with medicine to help control her liver, and referred her to a dietitian. In addition to helping Carrie discover more information, Dr. Manning carefully discussed the results of the test and empowered her to manage her daughter’s condition.
No matter what results indicate, it’s important to offer patients reliable information about their medical history and risk factors. If there’s a reason that their concerns are unwarranted, have a frank conversation and reassure them that you’re a partner in their care. Although the information is readily accessible through the internet and genetic testing, you should be available so that your patients seek you as their resource. Remember, your patients can teach you, too. Be humble enough to listen. Be a Dr. Manning, not a Dr. Early.
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