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Genetic Testing: Front and Center

Published Online: November 27, 2013
Jan E. Berger, MD, MJ—Editor-in-Chief President & CEO Health Intelligence Partners
This has been quite a year for genetic testing. Two events that occurred in a short time frame have created a one-two punch in the world of genetic testing. First, on May 14, Angelina Jolie shared with the world her decision to have a preventive double mastectomy after learning that she was genetically disposed to and at high risk for breast cancer. Approximately 1 month later, on June 13, the United States Supreme Court  decided to bar patenting of naturally occurring genes such as those that focus on the BRCA genes.

These 2 events put the spotlight on genetic testing, especially testing associated with breast cancer. The decision to have genetic testing is not one that is taken  lightly. The implications to participating are many, including costs, potential loss of insurance coverage, potential loss of job, treatment implications, and addressing one’s mortality.

These decisions have created an interesting environment in the clinical testing for a number of diseases. Genetic testing is not new. Genetic testing is one of the  cornerstones of the personalized medicine movement. It can inform as to whether a person is at risk for a condition.  It can also help to inform a physician as to the proper treatment plan for a patient. Genetic testing can give greater information regarding a specific patient than was previously available.

Angelina’s public announcement brought others who have made a similar decision out in the open. These announcements have created a public dialogue  on genetic testing. As I stated above, patients had to historically weigh the potential risk of losing one’s health insurance against knowledge that could be gained from the testing. The Affordable Care Act (ACA) has relieved the patient of this concern. It is unclear as  to whether the public discourse that began this spring along with the ACA regulations will create a greater demand for this testing. This is something we will be watching closely.

Next let’s focus on the second event that I mentioned above. In this case, the Supreme Court of the United States found that naturally found genes could not be patented. The direct implication of this decision is that Myriad Genetics loses the exclusive right to isolate the BRCA1 and BRCA2 genes. To date, Myriad was the only company that could legally offer this test due to its patent on these genes. The existence of these genes was determined at The University of California Berkeley. Myriad Genetics acquired patents after sequencing the genes and determining the exact location of the genes on the human genome. Myriad then created medical tests to detect the mutation of the genes that it had patented. Myriad did not create the genes, but developed a test. Patents for gene isolation are not new, and in fact patents have been given for this activity since the 1980s. Other organizations were able to run tests utilizing their own method for the test, but received letters warning them of patent infringement by Myriad. The Supreme Court decision allows these other organizations to offer their tests.

You may ask why this is important for anyone outside of Myriad and those organizations that are creating their own tests. As I stated above, genetic testing can have significant cost implications. Although testing costs vary depending on the test, most of the time these tests cost more than $1000. In the case of the BRCA1 and BRCA2 tests, the costs are approximately $4000. As competition begins to occur in the genetic testing arena, cost of testing should decrease. In fact, one competing company has a test on the market that will cost as little as $995. Another company has included the BRCA tests in a larger breast cancer panel that includes 4 other breast cancer–associated genes.

I believe that this developing competition is good for the market. It can not only address costs, but also work to create testing that may improve reliability. I am not stating that the present tests are not reliable, just that greater knowledge and competition can create improved testing. In addition to these 2 implications is the fact that the addition of more BRCA tests allows a person to get a second opinion prior to making the hard decision that is necessary in the case of a positive test.

Although the downward implications of this decision are yet unclear, it is important that those who are making coverage decisions for these tests consider the potential implications and begin to ask questions so that they can best understand the choices that will be put in front of them.

In fact, parallel to these 2 events, Cigna recently announced that it is applying new coverage rules to certain genetic tests. Cigna will require that a member speak with  a genetics counselor prior to receiving the genetic test. From what I understand, this action is not to dissuade the member or put up a barrier to getting these tests, but to make sure that the member is informed about the test and that they understand the potential implications. I find this decision an interesting one.

So get out your crystal ball. Do you think we will see an increase in people requesting genetic testing? Will costs go down as more companies begin to compete where they previously could not? And will more health plans apply new coverage rules to genetic  testing similarly to Cigna?

Let me know what you think.

Issue: Specialty Pharmacy
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