Precision medicine: how to get the hope without the hype

Precision medicine is often proposed to be the future of healthcare, but it faces challenges in its implementation. A recently published debate article in BMC Medical Genomics argues that training and support for clinicians will be vital. Here, co-author Scott McGrath explores what we can learn from the introduction of another technological advancement to healthcare delivery.

The chair gently squeaks as the doctor settles into the seat across from the patient in the exam room. The consultation begins with a genial, “So how are we feeling today?” from the physician. As the conversation veers into the weight loss goals, the patient taps their smart phone on a sensor near the doctor’s computer. A minute later the system has processed the data from the transfer and the two of them review the exercise and nutrition charts mapped against the patient’s goals.

Then the doctor re-tabulates the patient’s risk for developing Type II diabetes. Using the data from the smart phone and their predisposition as detailed from the genetic sequencing conducted earlier that year, the new scores populate the screen and they review them together. As the consultation winds down, an alert reminds the doctor to mention that pollen forecast is high for the upcoming weekend, and to have an inhaler nearby for the patient’s child, in case of an asthma attack. They schedule their next appointment and move on with their respective days.

The future of medicine

The scenario depicted above may not be that far off the mark for the future of medicine, if precision medicine takes off. In comparison to other medical models of care, the allure of precision medicine is the new methodology and approach to assessing wellbeing. Lifestyle and environmental factors are viewed as components of individual health, in combination with the patient’s genetic information.

By taking a more tailored approach to medicine, in particular a method that is informed by DNA sequencing, the way medicine is practiced may experience a major shift. For example, pharmacogenomics will transform our drug development and treatment options. Pharmacogenomics takes into account a patient’s or a population’s genetic profile, and aims to increase efficacious outcomes while limiting side effects.

Lessons from EMRs

How can we successfully prevent crossing the line between hope and hype when discussing the future of medicine? Electronic Medical Records (EMR) present a fair modern case study of what gets promised and what is delivered. Transitioning medical histories from paper-based records to electronic versions has obvious benefits, like enhanced accessibility for both patients and physicians, error reduction, enhanced medical surveillance, but they also open doors for novel exploration and ideas, like seeing if birth month has any impact on lifetime disease risk.

How can we successfully prevent crossing the line between hope and hype when discussing the future of medicine?

Getting the infrastructure up and running for fully interoperable EMRs across any nation has proven very difficult. EMRs have left a large number of physicians with the impression that they will eventually deliver on their promise, but until that date, many are simply left frustrated with the technology. This has had an adverse impact on EMR adoption rates. In order to help prevent precision medicine from suffering similar setbacks, we took a look to see if the current healthcare environment will allow precision medicine to thrive, or struggle to establish permanent root.

Understanding genetic test results

My interest in this topic was drawn from exploring Direct to Consumer (DTC) genetic testing. The ability to order relatively inexpensive genetic tests via the web was fascinating to me. I was left wondering how well those consumers of these tests were able to comprehend their results. Test results are sent directly to the person who ordered it, precluding any medical expertise involvement in the interpretation. The major concern is that people might make poor decisions if they were confused or overlooked key facets of these tests.

For example, it is possible to test for genetic predisposition for developing Type II diabetes over an individual’s lifetime. However, the science on the topic indicates that genetics play less of a role in those odds than heritability does, which folds in environmental conditions and chance into the mix. Therefore, an individual may see the results of their genetic test stating that their odds of developing Type II diabetes are lower than average. However, the evidence supports that genetics are not enough of a factor to overcome poor diet and lack of exercise.

Our study into this topic indicated that comprehension of genetic tests was reasonable, close to 75% of those surveyed were able to properly interpret DTC test results. But surprisingly, very few (10.7%) shared their results directly with medical professionals. We also found that consumers of DTC genetic tests tend to be more affluent, and more highly educated. If the popularity of genetic testing was to expand, we hypothesize that more people would seek out medical expertise. Would medical experts be prepared to answer questions by these patients?

The emergence of precision medicine will incorporate more genetic testing for individual healthcare. We wondered, are we prepared to embark on this new frontier in medicine? What steps do we need to take to get there? Hopefully our article helps to spark conversations to refine the initial ideas we proposed. Foresight and planning will help usher in precision medicine and protect if from remaining associated with science fiction and cautionary tales.

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