Actress Angelina Jolie’s public revelation that she has undergone a prophylactic double-mastectomy — even though she has no breast cancer — has raised popular awareness of gene testing by several magnitudes. Testing found that Ms. Jolie carries a defective gene, BRCA1, which doctors told her increased her estimated risk of developing breast cancer to 87%, and also increased her risk factor for ovarian cancer.
It can be reasonably anticipated that Ms. Jolie’s example will result in many more women seeking gene testing for BRCA1 or the related BRCA2, although at least one breast cancer expert cautions that that only 29% of cancers in women originate in the breast, and only some five percent to 10 percent of women carry high-risk single genes such as BRCA1. Dr Marisa Weiss, an Ardmore, Pennsylvania breast cancer oncology specialist, told The Guardian newspaper that while she anticipates the interest level in genetic testing to soar due to Ms. Jolie’s example, in many cases it would not be an appropriate choice.
In a New York Times op-ed, medical oncologist and University of Southern California professor of medicine and engineering David B. Agus observes that only one in about 400 women carry mutations to BRCA1 or BRCA2, with such hereditary defects implicated in between 5 percent and 10 percent of all breast cancers. Dr. Agus notes that the majority of the 230,000 breast cancer cases of diagnosed annually in the United States aren’t related to those genes. However, should you be that one in 400 women, you’ll likely want to know so you can make informed decisions about your health care.
DNA Testing For Breast Cancer: The Costs & The Case
The Guardian notes that in the U.S. it costs in the range of $3,000, or closer to $4,000 if a related genomic-rearrangement test is included in the analysis to be genetically tested for BRCA1 or BRCA2, and while in instances where there is a clear family history of breast or ovarian cancer, health insurers are likely to pay for the procedure, but where no such risk has been identified the individual will be expected to foot the bill.
Another related issue — one currently being considered by the U.S. Supreme Court — is gene patenting, specifically on the viability of the BRCA1 patent. Salt Lake City-based testing firm Myriad Genetics (MYGN) holds the patent on the test that Ms. Jolie had done.
A lawsuit filed in 2009 by the American Civil Liberties Union (ACLU) and the Public Patent Foundation (PUBPAT) challenges corporate ownership of human genes, arguing that corporations should not be able to patent human genes for profit while stifling scientific research into those genes, and charges that patents on the BRCA1 and BRCA2 genes are unconstitutional and invalid. On November 30, 2012, the Supreme Court agreed to hear arguments on the patentability of human genes in Association For Molecular Pathology v. Myriad Genetics, with the ACLU arguing its case before the high court on April 15, 2013, and a decision expected this summer.
The ACLU contends that that human genes should not be patentable because they are classic products of nature. The ACLU/PUBPAT suit charges that the gene patents violate the U.S. Constitution’s First Amendment and moreover inhibit diagnostic testing and research that could lead to cures as well as limiting women’s medical care options.
Myriad Genetics counters that “Because of the incentives provided by patents, companies invest millions of dollars in clinical studies that are essential for obtaining insurance coverage. For Myriad tests, approximately 95% of all appropriate patients have access to breast cancer susceptibility testing through private insurance, Medicare, Medicaid or Myriad’s Financial Assistance Program. Under our Financial Assistance Program, we test low-income, uninsured patients at no charge and have provided free testing to over 5,000 patients just in the past 3 years.”
It is estimated that about 20 percent of human genes are already patented by corporations and universities, the ACLU noting that: “A gene patent holder has the right to prevent anyone from studying, testing or even looking at a gene. As a result, scientific research and genetic testing has been delayed, limited or even shut down due to concerns about gene patents.”
Consequently, the implication is that, should the Supreme Court rule in the ACLU/PUBPAT’s favor, it would set a precedent that could dismantle the profitability of the human gene patenting industry. Currently, the only way an individual can discover if they have a specific mutation in their DNA is to be tested by one specific company if it holds the patent on that gene.
The Detroit Free Press’s Richard Wolf notes that BRCA1 and BRCA2 gene patent holder Myriad Genetics performs about 250,000 gene tests a year, with more than 1 million women having been tested.
However the ACLU/PUBPAT and others have argued that since a mutation is something inherent to their DNA, why can’t individuals opt detect any DNA mutations they carry ion an open market among testing labs? If granting patents to specific mutations is upheld, it can be anticipated that costs to individuals or insurers will remain higher, inevitably dissuading or preventing some people from being tested for purely financial reasons, and gene testing companies like Houston-based Gene By Gene, Ltd., which says it can process the same test for less than a third of the cost of what Myriad Genetics now charges rendered unable to contribute to wider access to this test with concomitant significant reductions in health insurance costs.
Gene By Gene: BRAC1 and BRAC2 Testing For Less
Gene by Gene currently processes BRAC1 and BRAC2 testing, as well as for several other genes that can diagnose different conditions, for patients in Israel, and has It has also developed a pre-natal array that covers 111 population specific diseases, and other tests that are not population-specific, including Duchenne Muscular Dystrophy. If one reviews the list of genes offered for testing at DNATraits.com, one of Gene by Gene’s four corporate unit divisions, and compares their prices to those of some organizations offering the same tests, the difference in prices will immediately stand out: DNATraits prices for for various genes are at least half, attributed to its extensively automated lab and efficient processes, that allow the company to provide reliable tests at extremely reasonable costs.
DNA Traits, which specializes in DNA testing to identify genetic disorders and susceptibility to inherited diseases and characteristics, says the company was founded on one simple idea: “if science can tell us whether we carry inheritable disorders, we have the right to know, for our own health and for the future of our families.”
In his New York Times op-ed entitled “The Outrageous Cost of a Gene Test,” UCSC’s Dr. David Agus says molecular scientists like him can sequence all of an individual’s genes — at least 20,000 of them — for about $1,000 or about five cents per gene, and that one gene testing company, 23andMe, charges customers $99 to see if they have gene variants that put them at greater risk for 120 diseases, or they carry a known heritable mutation in an additional 50, including cystic fibrosis, sickle cell disease and Tay-Sachs disease. “We’re paying this lofty price in large part because Myriad owns broad patents on these two BRCA genes, which it acquired in 1997 and 1998, respectively — and refuses to license the test to any other American company,” Dr. Agus notes.
[adrotate banner=”9″]Myriad Genetics argues that “A study published in Genetics in Medicine found that, ‘Prices for BRCA1 and BRCA2 testing do not reflect an obvious price premium attributable to exclusive patent rights,’ And that “the Health and Human Services SACGHS’ Committee released its report on gene patents clearly stating: ‘The per-unit price of the full-sequenced BRAC test, which often is cited as being priced very high, was actually quite comparable to the price of full-sequence tests done on colon cancer for which associated patents are non-exclusively licensed.’ Additionally, Myriad claims that the total average out-of-pocket cost for patients taking a Myriad test is less than $100.
However, Gene By Gene President Bennett Greenspan notes that “we want to lead towards a change in paradigm when it comes to genetic testing and the accessibility to those tests. Diagnosis and treatment will inevitably go the path of genetic testing, and we need to make those more affordable, not only so that more people can have access, but also, by widening the scope and quantity of people being tested, we will be able to acquire important information related to the prevalence of certain diseases in distinct populations. This, ultimately, may contribute to research towards the possibility of treatment and cure of many of these diseases”
About Gene By Gene
Privately-held Gene by Gene, founded in April of 2000, was the first company in the world to develop DNA testing for ancestry and genealogical purposes as a commercial application. Prior to the company’s initiative, these tests were only available for academic and research purposes. in 2006, Gene by Gene established a cutting edge Genomics Research Center at its Houston, Texas, headquarters which currently performs R&D and processes over 200 types of DNA tests for its customers. The company’s DNA Traits unit specializes in DNA testing to identify genetic disorders and susceptibility to inherited diseases and characteristics. Its services are private, affordable, and meet or exceed HIPPA requirements and the policy statement set forth by the American College of Medical Genetics (ACMG), offering an extensive range of genetic tests, genotyping, exome tests and other sequencing.
From a common sense deduction perspective, it seems inarguable that market exclusivity inevitably leads to higher costs, and that the common good is better-served by open access to gene testing. It will be interesting to see what the Supleme Court decides.