Her diagnosis was made using a kit sold by the company Myriad Genetics. Many have complained about the high cost (~$4000) of Myriad's genetic test for mutant alleles of BRCA1 and BRCA2 especially compared to the true cost of the service which is 10 to 100 times less. The reason why the company was able to charge so much was that they had a patent on genotyping the BRCA1/2 genes for cancer-causing mutations. In 2010, the Association for Molecular Pathology, tired of paying the exorbitant costs, along with a group of doctors and patients supported by the ACLU sued Myriad on the grounds that one could not patent human genes because they are a product of Nature and not a human invention.
In 2013, the Supreme Court ruled in favor of the plaintiffs and against Myriad with Justice Thomas stating that "Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.” This ruling coupled with the fact that the Myriad patents expired last year has led to new competitors in the BRCA1/2 genetic diagnostics market.
Last week, a Silicon Valley start-up, Color Genomics, shook up the market by announcing a $249 test for mutations in BRCA1, BRCA2, and 17 other cancer-risk genes. The user has to supply some saliva (which contains cheek cells whose DNA can be extracted) that is mailed to the company:
"The effort of the start-up, Color Genomics, to “democratize access to genetic testing,” in the words of the chief executive, Elad Gil, is generating concern among some experts. The company plans to charge $249 for an analysis of BRCA1 and BRCA2, plus 17 other cancer-risk genes. That is one tenth the price of many tests now on the market."
The low cost of this kit has interesting implications. Currently, medical insurance pays for genetic testing only for those with a family history of breast/ovarian cancer. A low-priced diagnostic service could lead to people paying out-of-pocket and hence more widespread adoption:
"Testing of the BRCA genes has generally been limited by medical guidelines to women who already have cancer or those with a family history of breast or ovarian cancers. Insurers generally have not paid for BRCA tests for other women, and some insurers are not paying at all for a newer type of screening known as a panel test that analyzes from 10 to 40 genes at once. Dr. Gil of Color said his company’s test would be inexpensive enough for women to pay out of pocket, so that neither the woman nor Color will have to deal with insurance companies. He said the company was starting a program to provide free testing to women who cannot afford its test."
What about FDA approval? The company 23andMe performs personal genomics services originally for ancestry, but also for medical genetic testing. The FDA blocked the latter because they did not apply for FDA approval which was needed to validate the accuracy of the tests. Color Genomics has found an interesting way to circumvent this problem (CBS):
"Unlike 23andMe, Color Genomics has a doctor involved in every order, either the woman's physician or a physician provided by the company. An FDA spokeswoman told The New York Times that if doctors place orders, testing companies that operate their own laboratories do not need FDA approval to offer testing."
In addition, the company is making an effort to demonstrate the accuracy of their test through collaborations with doctors and scientists who will have a chance to examine and contribute to the accuracy data.
On the surface, dropping the price of a medical diagnostic test sounds like a win for the patients and consumers, but a cost-benefit analysis needs to be done. Some health advocates have raised concerns (NPR):
"Still, some other geneticists, cancer researchers and women's health advocates are alarmed by the new test. They question whether the results have been studied enough to provide women with reliable information. The test, they say, may produce ambiguous or misleading results that frighten women into taking drastic action that may be unnecessary, such as getting mastectomies or having their ovaries removed"
On the benefit side, many women will discover that they possess potentially life-threatening BRCA1/2 mutations, and will be able take appropriate action. Perhaps cancer does not run in their families or they were not aware of it.
On the cost side, there may be an overreaction to the more minor risk conferred by less dangerous mutant alleles in the BRCA genes. Properly interpreting the results will be critical, and having medical specialists such as genetic counselors involved in the loop would greatly help. Over-diagnosis and over-treatment are big concerns for other types of cancer diagnostics such as mammograms and PSA testing.
However, it will be impossible to fight the tide, nor do we want to. Genetic diagnostic testing for a variety of disorders, not just cancer, will become widespread as DNA sequencing costs continue to plummet. Indeed the day is approaching when everyone's DNA will be sequenced, and hence everyone will know whether or not they carry any cancer-risk mutations in BRCA1/2, as well as other genes. More data and experience should give rise to Best Practice recommendations for interpreting and taking action on all of this new genetic information. We need to start planning for this Future.
Figure 1. This $249 kit from Color Genomics could revolutionize genetic testing for cancer.
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