Health and Healthcare Systems

How to bring precision medicine into the doctor's office

Genetic tests and precision medicine offer great promise

What are the barriers to using genetic tests in everyday healthcare? Image: REUTERS/Jorge Dan Lopez

Arthur Hermann
Fellow, Precision Medicine, World Economic Forum
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Precision Medicine

This article is part of: World Economic Forum Annual Meeting

Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the “instruction book” containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.

The genetic coding system works amazingly well, but like all systems, occasionally things don’t go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code “develops an error” causing you to have a devastating disease.

Have you read?

If genetic testing is so powerful in analysing and understanding your health, why can’t you just as easily have this same genetic information inform your care at the doctor’s office? To answer this question, let’s first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).

Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.

Personalised medicine is a growing market
Precision medicine is a growth area
Interviews shed light on barriers

With all this money and effort being expended, why isn’t the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forum’s Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.

Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.

These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctor’s office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:

1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply don’t have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: “The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white”

2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.

3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).

4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply won’t order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.

Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.

Moving genomics to the clinic

We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers – and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.

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The views expressed in this article are those of the author alone and not the World Economic Forum.

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