It seems everywhere providers look they find a new genetic test being advertised.
This is an exciting and evolutionary time for the whole concept of precision medicine, as genomic information creates important new opportunities for personalized risk assessments, diagnoses and treatments.
Yet given the estimated 70,000 genetic testing products currently available — and roughly 10 new tests introduced to the market each day — physicians are challenged to stay abreast of changes and to find the right precision medicine paths for their patients. Nonetheless, there are ways physicians can overcome these challenges and take a cost- and outcomes-effective approach to incorporating genetic tests into their clinical practice.
Technology vs. knowledge
When it comes to genomics, one of the most common challenges providers face is simply a “knowledge gap.” There can be a significant disconnect between the technology available to perform a test, and the scientific and clinical knowledge required to effectively interpret and apply the results to optimize clinical decision making and care management.
In other words, genetic tests are often available on the market before we have good evidence-based guidelines for using them clinically.
For example, a test might identify some — but not all — of the possible gene mutations linked to a particular health condition. In such cases, what is the predictive value of that test?
In other instances, a test might detect results for which there are no clear clinical management guidelines, or for which variants have unknown significance. In the latter case, the relevance of the test result isn’t yet known. It might indicate a clinical concern — or nothing at all.
Filling the knowledge gap
Genomic science is advancing rapidly. It’s not uncommon for existing genetic testing guidelines to change four, five or more times in a single year. To keep on top of new opportunities, physicians should consider incorporating the following strategies into their clinical practices:
● Check periodically for emerging specialty society guidelines. Especially in clinical disciplines where genetic testing is already more common — such as oncology and cardiology, for example — specialty societies often offer helpful updates on evolving best practices and standards of care.
● Rely on genetic counselors for expertise. In-depth assessment of clinical and family history to determine whether and which genetic test may be appropriate is time-consuming, complex and must continuously incorporate new evidence. These challenges may push providers into ordering unnecessary tests that are expensive and may lead to increased anxiety for patients and additional medical investigations and procedures. Genetic counselors specialize in helping physicians identify when a genetic test may be appropriate, as well as which test to order. They evaluate the quality of new tests, assessing factors such as the test platform/assay procedures, how variants are interpreted and reported, and the quality of results reports.
● Develop a thorough informed consent process. Patients excited about the potential of genetic tests may have unrealistic expectations. After Angelina Jolie’s well-publicized BRCA1 test, for example, women unaware of the mutation’s rarity and with no family history or evidence-based indication for testing pushed for it and testing levels rose dramatically across the country. Some state laws require informed consent for genetic testing but, regardless, a good informed consent process helps ensure patients have a true understanding of the potential benefits and limitations of genetic testing, as well as the decisions they may face based on the test results.
● Refer patients to experienced genetic counselors when testing is an option. Two people with the same family histories and clinical risk might make two very different testing and treatment choices — which is the beauty of precision medicine. Just as genetic counselors can help providers understand the most appropriate tests available, they can also help patients understand test choices, benefits and risks so that they can properly weigh these factors in shared decision-making with their physicians.
● Check payer coverage. Coverage policies for genetic tests can vary widely from test to test and insurance plan to insurance plan. With some tests costing tens of thousands of dollars, physicians should help patients weigh both clinical and financial implications by looking into coverage, pre-authorization and other plan requirements. An understanding of coverage issues can help ensure tests are appropriately covered and patients are not surprised by out-of-pocket costs.
Advancing patient care
As genomics and the role of genetic testing grow exponentially, so do opportunities for precision medicine. That makes the issues and implications surrounding genetic testing as profoundly exciting as they are complex. With proper interpretation and guidance, providers can leverage the benefits of this rapidly evolving field to offer the best patient care and experience.
Rebecca Sutphen, M.D., FACMG, is president and chief medical officer at InformedDNA, the nation's largest independent provider of genetics expert services.
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