DTC genetic testing is gaining popularity but is not always helpful for patients and can create unnecessary costs for health plans. SmartBrief spoke with Kentmere Healthcare Consulting Corporation Chief Medical Officer Russel E. Kaufman to learn how health plans can discourage unnecessary DTC tests.
How has genetic testing evolved, and what have been the biggest game-changers for patient care?
In 1979, my lab cloned some of the first human genes, enabling us to diagnose genetic diseases by directly sequencing single genes. Technology evolved and next-generation sequencing allowed the sequencing of multiple genes simultaneously. Coupled with array technologies, patterns of gene expression could be determined, allowing us to predict things like whether tumors will spread or whether chemotherapy will be useful.
With these developments, we’ve gone from identifying mutations for diagnosis to finding patterns of genetic expression to guide therapy. Now new genetic tests are coming out each week, and it can be overwhelming for health plans to analyze them. In fact, many have no impact as they either duplicate what is already out there or have no proven clinical validity or utility.
What about direct-to-consumer genetic testing?
If you order a DTC test, you may get a result that says you have a predisposition for a specific condition, but most of these conditions would have already been diagnosed if they are significant. Few people are equipped to process this information, and the internet may provide 10 different answers that scare them to death. Most people take that information to their doctor and the first thing their doctor does is have a commercial lab repeat the test, which could cost as much as $2,000.
Depending on the results, you will have follow-on testing, which also has costs. Depending on the test, it could lead to a lifetime of increased screening if the clinician is not knowledgeable about the test results. This is a real cost, and although it currently accounts for less than 5% of a health plan’s overall spend, it is expected to increase and has a compounding downstream effect.
How can health plans discourage unnecessary DTC testing?
Education is key. In fact, more health plans should require credentialing of clinicians. For example, with prostate cancer gene expression testing, we recommend requiring physicians to demonstrate they are a board-certified urologist and that they understand the policy. Then we follow up the next year to ensure they are following the policy.
What do you see on the horizon for laboratory benefits in 2019?
The biggest shift will be in broader use of next-generation sequencing panels. There is growing evidence that they are less expensive than doing multiple individual tests in a serial fashion, and they are more accurate and more sensitive.
A second shift will be using liquid biopsies to detect cancer. Now you can look at blood and see if there is an EGFR mutation for lung cancer by sampling your blood instead of performing a biopsy. This guides the use of very specific therapy. Health plans are struggling with whether they should reimburse for liquid biopsies, and more are doing so. This will be an ongoing issue for health plans, as the tests are just getting better.
Russel E. Kaufman is Chief Medical Officer for Kentmere Healthcare Consulting Corporation, the longest existing laboratory benefit management program for health plans. Learn more at www.kentmerehealth.com.