MedCity Influencers, Diagnostics

Consumer interest in genetic testing is exploding. Are providers ready?

A recent study notes that widespread access to personal genetic information – without the knowledge of how to interpret results – can lead to problems ranging from misinterpretation to emotional distress.

As the popularity of at-home genetic testing kits continues to rise, it is critical that healthcare providers establish a game plan for helping patients effectively navigate this burgeoning area of medicine.

A recent Boston University study published in Translational Behavioral Medicine examined this exact scenario and the challenges that can arise when people contact healthcare providers about their “raw” DNA data. Findings show having widespread access to personal genetic information – without the knowledge of how to interpret results – can lead to problems ranging from misinterpretation to emotional distress.

The study paints a picture of the practical issues that the genetics community and providers across the board are facing as technology continues to advance and they are bombarded with an unimaginable influx of data, including genomics information. The responsibility lies with healthcare professionals to determine how to effectively incorporate genetic counseling and genetic risk assessment into their everyday practice.

First and foremost, providers must open the lines of communication with their patients – whether the patient has already ventured down the genetic testing path or not. When engaged early in the process, physicians can walk a patient through their testing options, including discussing the pros and cons of utilizing those that can be performed in a patient’s home and others that can be completed through a hospital or primary care provider. Additionally, medical experts can share with their patients the many other factors that must also be assessed to paint an accurate picture of disease risk, including personal and family health history along with other pertinent factors.

Once patients and physicians are working together toward a common goal, the next step is figuring out how to sift through the noise in an efficient manner to appropriately hone in on the information that will be most helpful in making informed healthcare decisions. It is also important to note that the approach to genetic testing has completely evolved over the past decade. Geneticists used to only have to focus on a few genes at a time when counseling a patient, and now some testing panels contain hundreds even thousands of genes, but there are still many conditions which likely have a genetic etiology for which clinical testing is not available. As a result, it is important to set realistic expectations with patients for what can and cannot be analyzed when seeking genetic testing.

Once a healthcare practitioner orders and assesses a patient’s genetic testing results, the next step is to be prepared to provide the necessary referrals to appropriately support them into the next phase of the process (if a next step is needed based on the results). It is never ideal for a patient to walk away from their genetic testing process wondering what to do next, so it is key for providers to connect the dots for patients and the plan will likely evolve as new knowledge emerges. Fortunately, there are innovative health systems that have personalized medicine programs which include genetic counselors trained in partnering with physicians, patients, and their family members as they work to determine the best course of action and appropriately manage the questions and concerns of those impacted by inherited gene mutations. Ultimately, this is a win-win scenario for all parties involved as patients receive the information they want and need, while physicians receive ready access to important information that will help guide development of more individualized treatment plans.

While the genetic testing community is still figuring out how to bridge the knowledge gap and use information gleaned from genetic diagnostics to its highest capacity, progress is certainly being made. In the meantime, it can be frustrating when patients take to Dr. Google to diagnose themselves or expect a mail-order test to reveal all that they need to know for improved health. That’s why the medical community must work harder and smarter to incorporate this information into practice and empower patients as consumers and partners in healthcare decision making. When physicians and the healthcare system initiate the dialogue around this testing before patients even start down the path, together they can effectively bridge available diagnostics with clinically actionable treatment and prevention plans with the goal of saving time, money, and lives in the long run.



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