The Onset of Myriad Options for Genetic Testing
by Lauren Hasek
Your driver’s license is a personal identification card that has no real intimate tie to you: your name can be changed, your birthday is shared with thousands, and your height and weight are rounded. For legal purposes, a driver’s license provides adequate and immediate identification. Imagine if your genome – something entirely unique – could be referenced just as fast, with the swipe of a card. Scientists have the capacity to sequence the human genome for medical use, individualizing treatment and identifying potentially problematic genetic sequences. Both the existence of this amazing technology and restrictions on its widespread use can be attributed in part to gene patents.
Gene patents serve their purpose like any other patent, protecting an invention or discovery by allowing the holder to exclude others from its use or sale for a limited period of time. The Human Genome Project in the 1990s started the rush to patent the human genome. The medical community was originally optimistic, believing patents would encourage private companies to invest in diagnostic development. As of June 2013, over 20 percent of the genome was under patent. Unfortunately, the exclusive right to naturally occurring genes resulted in company monopolies on the tests for specific gene sequences. These monopolies drove the price of genetic testing up and discouraged sharing of results. While thousands were receiving genetic tests, test results were recorded in private, company databases. Consequently, further improvements in the test for a gene or discoveries of potential gene/disease correlations were restricted to the parent company. As successful as patents were for stimulating investments in research and product development, the resulting genetic tests were too expensive to be widely accessible.
The Supreme Court ruled on The Association of Molecular Pathology vs. Myriad Genetics, decidedly abolishing gene patents. For the past 15 years, the molecular diagnostic company Myriad Genetics has held a monopoly on the laboratories and tests needed to screen for an increased risk of breast and ovarian cancer. Myriad’s BRACAnalysis uses cut and spliced complementary DNA (cDNA) to identify abnormalities in the BRCA1 and BRCA2 genes. The genes are tumor suppressors that directly encode proteins responsible for repairing damaged DNA. More specifically, mutations in these genes predict an up to an 85 percent chance of developing breast cancer.
Myriad’s monopoly on the isolated BRCA genes made a hefty payday. While the test is covered under most insurance plans, its $4,000 price tag restricts low and middle-income women from assessing their risks. Additionally, the patent on the BRCA genes forced healthcare providers to use multiple companies when performing comprehensive genetic screens on a patient; each gene required a test from the company that held its patent. As a result, the process was lengthy, expensive, and inefficient. The human genome in its entirety – all 20,000 genes – can be sequenced for less than double the cost of sequencing merely two genes with BRACAnalysis. In fact, in 2012, genetics companies announced that nearly all 3 billion base pairs could be sequenced for under $1,000 within the next few years. The goal of reaching such a low cost figure, along with the ability for further genetic analysis, hinged upon the abolition of gene patents.
Since 2009, Myriad Genetics has fought to maintain its patent on the human BRCA1 and BRCA2 genes. Despite the ruling against Myriad Genetics, stock in the company rose eight percent the morning of the Supreme Court decision. While naturally occurring human gene sequences are no longer patentable, artificially synthesized DNA like cDNA, a key to drug and diagnostic development, can still be patented. Myriad has a head start in the genetic diagnostics game despite losing the Supreme Court battle. They will remain prominent player in what promises to be a more open and competitive field.
The Supreme Court ruling did succeed in opening the market, bringing genetic sequencing closer to widespread realization, and genetic testing to thousands who previously could not afford it. Less than 24 hours after the decision, other companies announced they would be offering BRCA gene testing for $995, a quarter of the cost of Myriad’s BRACAnalysis. Competition will make the tests affordable, while an increase in consumer demand for diagnostic gene screening for a number of diseases will drive continued innovation, and furthermore, broaden the spectrum of services offered by companies; screening is just the beginning.
Safe storage of the human genome is where personalized genetics encounters a roadblock. Whole genome sequencing will soon be offered for under $1,000 and take only one day to analyze. However, the process requires one terabyte of data (1000 gigabytes) per person. Falling prices encourage an increase in gene sequencing but this boom is only sustainable if storage infrastructure is in place to support it. Here is where health cloud computing plays a role – a projected $5.4 billion industry by 2017.
Improvements in sequencing, analysis, and storage capacity developed independently of widespread genetic testing. The Supreme Court ruling fosters “a positive competitive dynamic” that will push genetic testing into the mainstream, cutting the cost of accessing an individual’s chemical makeup as well. Improved efficiency of genetic testing and use of the service is part of a package of innovations that will fuel the field of personalized medicine. Once a large enough cohort of patients begins accessing their genome as a tool for treatment, researchers can finally assess the potential for highly specialized medication – a field made possible by both the initiation and elimination of gene patents.