Updated as of 2009
American College of Medical Genetics
Association for Molecular Pathology
American Society for Clinical Pathology
Breast Cancer Action
College of American Pathologists
Wendy Chung, M.D., Ph.D.
Arupa Ganguly, Ph.D.
Haig H. Kazazian, Jr., M.D.
David H. Ledbetter, Ph.D.
Ellen T. Matloff, M.S.
Our Bodies Ourselves (Boston Women’s Health Book Collective)
Harry Ostrer, M.D.
Elsa Reich, M.S.
Vicky J. Thomason
Stephen T. Warren, Ph.D.
American College of Medical Genetics
The American College of Medical Genetics (ACMG) has had a long-standing position against gene patenting. In the 1999 ACMG Position Statement on Gene Patents and Accessibility of Gene Testing that was reaffirmed in 2005, we stated:
“It is the American College of Medical Genetics’ position that genes and their mutations are naturally occurring substances that should not be patented.”
Michael S. Watson, PhD
About ACMG »
With breast cancer affecting an estimated one in eight women, ACMG has grave concerns over the human cost of patents on genes such as BRCA1 and BRCA2 that are important in the diagnosis, management and risk assessment of this and other serious human diseases. For example, patents on the BRCA1 and BRCA2 genes may prevent a woman considering a radical surgical procedure from obtaining a second opinion or confirmatory test. In addition, when genes are held as monopolies, and few or no other labs are allowed to perform the diagnostic tests, there is no incentive for quality assurance or improvement of the tests.
Additionally, as stated in the ACMG Position Statement:
“Further, restricting the availability of gene testing has long-term implications beyond patient care. It affects the training of the next generation of medical and laboratory geneticists, physicians and scientists in the area enveloped by the patent or license.”
“We are particularly concerned that a monopoly on a medical service ultimately can dictate national medical practice. For example, some laboratories with testing monopolies will not offer prenatal diagnostics. In such cases, either women are deprived of having the test altogether or the test may be performed by a laboratory with less experience in testing within the particular gene because they have been excluded from using the test. Some patent holders (or their limited licensees) hold the patient data they collect as proprietary information that isn’t shared with the health care community; thereby reducing the accumulated knowledge about gene:disease relationships,” said Michael S. Watson, Ph.D., Executive Director of ACMG.
Association for Molecular Pathology
The Association for Molecular Pathology (AMP) has joined this suit for a number of reasons, the most compelling of which is that the principle being argued in the case is consistent with our desire to support public policies that we believe are in the best interest of our profession and the patients we serve.
Jan Nowak, MD, PhD
About AMP »
AMP believes gene patents can serve as a disincentive to innovation in molecular testing because they deny access to a vital baseline of genomic information that cannot be “invented around.” Moreover, threat of enforcement from a patent holder and ensuing litigation costs lead to a chilling effect as clinical laboratories and manufacturers are reluctant to develop new tests that could directly benefit patients. Regardless of the outcome, this case has potential to significantly clarify the extent of protection provided by gene patents. AMP also believes that this case is consistent with its role in public policy and the need to take principled stands on issues that impact the molecular pathology profession and the patients we serve.
Our intent is that joining this suit as a plaintiff will prompt changes in the patent system that will resolve what we see as increasingly narrowing options for manufacturers and laboratories to access gene sequence data to develop the tests needed to make molecular medicine a reality. This case is consistent with our values for both the organization and our patients. In short, we believe it is the right thing to do.
American Society for Clinical Pathology
The American Society for Clinical Pathology (ASCP) has joined the ACLU as a plaintiff in this lawsuit because a fundamental tenet of ASCP is that patients come first. Gene patents violate this principle by creating unjustifiable monopolies on human genetic information that is critical in the diagnosis of many diseases.
Barbara McKenna, MD
About ASCP »
Gene patents limit the broad availability of diagnostic tests due to the simple fact that laboratory scientists are prohibited from performing genetic tests because of patent enforcement and the threat of litigation. As a result, the market is dominated by a single provider, eliminating competition and scientific diversity, which ultimately drives up costs. Gene patents potentially infringe on patients’ rights, denying them access to their own genetic information. Such patents stifle the innovative process, negating further refinement in test methodology, improvements in quality, and access to testing for the uninsured as well as those whose health care coverage requires that testing be reimbursed by a third-party payer.
In short, the practice of gene patenting harms patients, impedes advances in medicine, and limits those in the practice of pathology and laboratory medicine from doing what they are educated to do–provide high quality health care and engage in research that will enhance the practice of medicine and patient care.
Breast Cancer Action
Breast Cancer Action has joined this lawsuit because, as the advocacy and educational watchdog of the breast cancer movement, we believe that Myriad’s control of the BRCA gene patents creates unacceptable barriers to research and testing, endangering the health of our members and the public. We believe it is wrong for the government to give one company the power to dictate all scientific and medical uses of these genes.
Part of our mission is to provide information about options regarding breast cancer prevention and treatment to anyone who needs it, but the information we provide regarding genetic susceptibility for cancer and genetic testing is severely limited by Myriad’s control over the BRCA genes’ information.
About BCA »
We find it highly problematic that, because of Myriad’s patents, their BRCA test results cannot be verified by any other lab. This means that patients may be getting false negatives and false positives and have no way of knowing it. We are also very troubled that Myriad’s patents interfere with research needed to gain a better understanding of certain genetic mutations that may or may not be associated with breast cancer. Ethnic minorities, including African-Americans, Hispanics and Asian-Americans, are disproportionately likely to receive ambiguous test results. Finally, we object to the fact that Myriad is able to charge a high price for its test because their patents on the genes allow them to bar competition. Women who do not have insurance, or whose insurance companies refuse to cover the test, have no access to this testing.
We need more and better options for both the treatment and prevention of breast cancer. Our hope is that this lawsuit will expand those options by removing the barriers constructed by gene patents, opening the door to more research on the BRCA genes by a more diverse group of researchers, and permitting appropriate patient access to testing.
College of American Pathologists
The College of American Pathologist (CAP) was moved to participate as a plaintiff in the Myriad suit because of its longstanding policy on gene patents that these patents prevent physicians and clinical laboratories from providing gene-based diagnostic test services limit access to medical care, jeopardize its quality, and raise its cost. CAP also has long believed that limiting gene-sequence based test services to a single provider is not in the public interest as it interferes with medical training, practice, and research, the advancement of medical knowledge, and enhancement of the public’s health.
MD, PhD, FCAP
About CAP »
The College also believes that genomic medicine will be the cornerstone of diagnostic testing and treatment and that pathologists are the key to genomic test selection, interpretation and clinical integration. Gene patents interfere with pathologists’ practice of medicine and hurt patients.
“Invalidating Myriad Genetics’ patents on BRCA1 and BRCA2, would be a huge victory for patients,” said Debra Leonard, MD, PhD, FCAP, Chair of the College of American Pathologist’s Personalized Health Care Committee. “It would allow women to receive life saving, state-of-the-art genetic tests without being forced to trust one provider or one laboratory performing a single test to secure a diagnosis or inform treatment,” Dr. Leonard said.
My name is Lisbeth Ceriani. I’m a single mother of one daughter, age 8. I was diagnosed with bilateral stage IIA breast cancer in May 2008 at age 42. It had been just 14 months since my last mammogram. As I had multiple tumors, I underwent a double mastectomy in June prior to dose dense chemotherapy this past fall and winter. I am currently undergoing radiation therapy.
Based on my personal medical history, and my family history of cancer, two genetic counselors and my oncologist all agreed that I should have Myriad’s BRCA genetic test, called BRAC Analysis test. I have been advised that if I carry a mutation in either of the BRCA1 or BRCA2 genes, it is recommended that I undergo surgery to remove my ovaries. However, if I don’t carry a mutation, I would not like to risk an unnecessary surgery. BRCA genetic testing is essential in my case to help determine the best course of treatment.
My health insurance is MassHealth, a form of Medicaid. The Massachusetts Office of Health and Human Services (MOHHS), which oversees the Medicaid plans in the state, has confirmed in writing that I do have coverage for BRCA genetic testing at 100% with no prior approval if the test is performed by a contracted provider. There is only one lab in the country that performs BRCA genetic testing, Myriad Genetic Laboratories in Utah. MOHHS told me that Myriad will not sign a contract with my insurance, because it believes the reimbursement level is too low. The BRAC Analysis test costs $3,225. MassHealth would pay half, $1,599.
There is no question that I should have the test from a clinical stand point, and my insurance has documented that they will cover the test if billed by a contracted provider. Myriad is the only provider in the country because it has patents on the BRCA genes, but it will not enter into a contract with my insurance. Myriad holds my fate and future in its administrative hands, unless of course I am able to pay $3,225 out-of-pocket. Unfortunately, as a result of my illness and treatment, I do not have an extra three grand right now.
Wendy Chung, M.D., Ph.D.
I joined this lawsuit as a plaintiff because, as a human genetics researcher, I believe allowing exclusive licenses on genes compromises the access to care and quality of care patients receive.
In recent years, there has been groundbreaking research in human genetics that has identified the genetic basis for over 2,200 human diseases. Genes have been identified for nearly all types of human disease including susceptibility to breast cancer, colon cancer, Parkinson disease, Alzheimer’s disease, stroke, coronary artery disease and myocardial infarction, arrhythmias, diabetes and macular degeneration. These conditions are not rare diseases, but are common conditions from which the majority of Americans will suffer at some point in their lives.
Wendy Chung, MD, PhD
Genetic testing for these conditions plays a crucial role in allowing patients to assess diseases for which they are at risk, quantify the level of risk, and determine the interventions that will be most effective given the molecular basis of their disease predisposition. Unfortunately, the provision of inexpensive, clinically useful genetic testing has been stifled in part by the issuance of patents for genes and exclusive licenses that allow only a single laboratory to perform clinical genetic testing.
Problematically, if there is only a single provider for a medical genetic testing, there is no competition or market force. This leads to substandard quality of the tests, the inability of physicians to independently confirm test results, a lack of innovation and test improvement, slow turn-around times for testing, and excessively high prices that often make these tests unavailable to many patients and unnecessarily increases the cost of health care provision by third party payers.
An especially noteworthy example of this problem is hereditary breast and ovarian cancer due to mutations in the genes BRCA1 and BRCA2. Myriad’s monopoly on the BRCA genes has made it impossible for patients to get a second opinion about their own results, and test interpretation provided by the company has been problematic. As of 2005, approximately 1,433 BRCA genetic tests were reported by the company to have “variants of unknown significance,” a result which leaves the patient and the physician not knowing whether or not the patient is at increased risk for breast and/or ovarian cancer.
These variants of unknown significance are reported disproportionately in minority populations (African Americans, Hispanics and Asians) because we have less information about the normal genetic variation in minority populations, who are less likely to participate in research studies. Rather than proactively gather this information, Myriad continues to report out ambiguous results because, since they face no competition in the market, there is no incentive for the company to improve the quality of the data interpretation.
Another problem with Myriad’s monopoly is that it allows the cost of BRCA testing to remain prohibitively high for some patients – it has increased over the years to the current cost of over $3,400.
For the first seven years the test was performed, many insurance companies did not cover genetic testing for BRCA, or required a lengthy preauthorization process that discouraged many patients from pursuing testing. Some of my patients died during that preauthorization process, leaving their families unable to get the necessary information to guide the future medical care of other relatives. In addition, for the first eight years of testing the test was not covered by Medicare, and for the first ten years, the test was not – and still isn’t in many states – covered by Medicaid.
In summary, when genetic testing is performed by a single laboratory, the quality of the genetic testing and interpretation of results suffer and the price of the testing remains artificially elevated, to the detriment of patients who could take preventive measures to preserve their health if provided with accurate information to determine their risk of life-threatening diseases.
Arupa Ganguly, Ph.D.
In 1995, I joined the department of Genetics at the University of Pennsylvania, as the then co-director of the Genetic Diagnostic Laboratory (GDL). I joined this lawsuit because I am concerned that gene patents have a chilling effect on scientific research.
Scientific research on genes and genetic testing was once performed in academic and commercial labs across the nation. Unfortunately, gene patents have allowed some companies to enforce monopolies and dictate the terms under which researchers may or may not perform their own tests on the genes they control.
Arupa Ganguly, PhD
Tests for mutations in two genes associated with breast and ovarian cancer, BRCA1 and BRCA2, were the first major tests offered by GDL when they were introduced in 1995. Unfortunately, patent-related legal issues prompted GDL to stop genetic testing on the BRCA genes in 1997. Now I am careful to obtain legal counseling before setting up any new gene testing process.
Right now, any researcher who wants to study a patented gene must obtain permission from the patent holder, and the patent holder has the right to – and often does – prevent them from using or even looking at that gene. Unfortunately, the proliferation of gene patenting has limited the ability of many researchers to set up important tests.
I have been working with Dr. Charles Stanley at the Children’s Hospital of Philadelphia for the last ten years, and together we developed a test for mutations in two genes that give rise to hyper-insulinism or hypoglycemia in children. Just before Dr. Stanley and I were ready to offer the test clinically, we were informed by another company that they hold the patent on the SUR1/Kir6.2 genes in question, and that we were barred from offering the clinical test. Sadly, this negative experience has seriously dampened my desire to develop any other gene test.
I and my fellow researchers are forced to constantly worry about violating patents, and as a result there are things we completely avoid. This ultimately takes its toll on the patients – the very people gene patent holders claim they are trying to help.
I became a scientist because of the endless possibilities for discovery and progress in my field, but now so much research is blocked by the legalities of patents. That seems to me to go against the spirit of my work.
I am a business owner, artist and writer and I live in Austin, Texas. I was diagnosed with breast cancer in July of 2006 at age 36 and I had a double mastectomy. The doctors say that when you are under forty years of age, your cancer can be more aggressive, and I belong to a support group of women under forty that has helped me with information about doctors, treatments and decisions.
When I was confronted with this alien invasion (cancer), I decided to be as aggressive as I could to prevent the potential spread. I also decided to be diligent about getting second opinions along the treatment path. In one important area, however, I couldn’t follow my second opinion treatment protocol because one company has a monopoly on genetic testing of the BRCA genes.
After I was diagnosed with cancer, I was tested for hereditary risk for breast and ovarian cancers. Mutations on the BRCA1 and BRCA2 genes can show if you are at higher risk for these cancers. I tested positive.
Because of patents on the BRCA genes, only one company out there has the ability to sequence them. I can’t get a second sequencing done at a different company to validate my results. I am thinking about having my ovaries removed because of my risk for ovarian cancer. It is uncomfortable making such an important decision based on only one test.
My immediate family might also be at risk of cancer because of my history and will seek out genetic testing as well. Unfortunately, their testing has been based on my results, and at this point there is no way to confirm their results either.
Opening up the door for other companies to provide testing will allow validation of genetic test results and help women like me be more confident in their treatment plans. Having a mastectomy or your ovaries removed are serious procedures that cannot be undone. Patents on human genes should not block patients’ ability to get second opinions.
Haig H. Kazazian, Jr., M.D.
I joined this lawsuit as a plaintiff because my work as a genetic scientist and the work of my colleagues has been negatively affected by Myriad’s BRCA patents.
Haig Kazazian, MD
After the BRCA1 and BRCA2 genes were cloned in the mid-1990s, my colleague, Dr. Arupa Ganguly, spent considerable effort to set up a screening test for mutations in these genes that could be related to genetic disease. Ms. Lynn Godmilow, a genetic counselor, also worked with us, screening potential users of the test for appropriate family history, reporting of results to physicians, and follow-up.
In the late 1990s, after we had tested over 500 women and a number of family members with risk of familial breast cancer for BRCA gene mutations, we received notice from Myriad to cease and desist the testing. Rather than risk being sued, we complied with Myriad’s order. Unfortunately, now all of the BRCA gene testing must go through Myriad’s lab, which charges almost twice our price for testing of these genes.
Dr. Ganguly, Ms. Godmilow and I did significant work to set up the testing and we were very disappointed that we could not continue this service, which was of vital importance to women with a family history of breast cancer.
David H. Ledbetter, Ph.D.
My training and expertise are in the field of genetic testing, and I am responsible for very large genetic testing laboratories at Emory University School of Medicine. These laboratories provide clinical testing services to a large number of patients and families with genetic diseases (over 28,000 tests performed/year) and include biochemical genetics, cytogenetics and molecular genetics testing. As an academically based genetics testing laboratory, our mission includes research to develop new technologies for improved sensitivity and accuracy of genetic testing. We do this by close collaboration with basic scientists at Emory and elsewhere to rapidly translate new gene discoveries or new technologies into clinically useful tests. For example, in the last 3 years our molecular genetics laboratory has developed new gene sequencing tests for over 200 rare genetic diseases, may of which were previously unavailable as clinical tests. We are leaders in the development of microarray and high-throughput sequencing for clinical genetics testing.
David Ledbetter, PhD
Because of the close interdependence of our translational research with our clinical testing activities, we are only able to invest in research for those diseases in which we will be free to offer genetic testing when we are successful in developing a new or improved clinical test. When a gene patent and exclusive licensing situation creates a genetic test monopoly, we are forced to avoid performing research for this particular disease and therefore cannot contribute our cutting-edge technologies to the improvement of clinical testing for this patient population. This strong disincentive to perform translational research applies to many other academically based genetics testing laboratories, thus depriving patient populations from the active research involvement of some of the best scientists and institutions in the world.
Other critical components of laboratory quality control are jeopardized by genetic testing monopolies. In virtually all clinical laboratory areas, sample exchange programs, proficiency testing programs, and repeat testing (“second opinions”) are vital aspects of ensuring the highest quality laboratory test performance. None of these are possible when a single laboratory performs all genetic testing for a disease.
There is absolutely no need for patent protection in the diagnostic field of use. For any disease gene identified, there are a large number of academic and private diagnostic laboratories prepared to establish clinical testing at very modest investment, which will increase access to clinical testing services, and provide incentives for test improvement (greater sensitivity, cost-effectiveness).
My name is Runi Limary. I am 32 years old, Asian-American and live in Austin, Texas. I decided to be part of this lawsuit because I believe gene patents have hindered research and testing, including research on BRCA genetic mutations more common among ethnic minority groups. I have been directly affected by the current lack of understanding of BRCA mutations.
When I was diagnosed with breast cancer, I was only 28. Because I am younger than most breast cancer patients and because the case was so aggressive, my doctor recommended that I take the BRCA genetic test to see if I was at higher risk for a second breast cancer or ovarian cancer.
I took the test but my results were ambiguous. They showed that my BRCA genes had a “variant of uncertain significance,” indicating that I have a mutation that may or may not mean a higher risk of cancer. I was told that the variant in my genes has been seen in Asian women, and I later learned that these ambiguous results seem to come up more often for minority women.
I will have to make a decision about whether or not to have an oophorectomy (removal of the ovaries). I’m only 32 and don’t have children. I want to be able to make an educated decision before I undergo such a serious and life changing surgery.
Gene patents give the patent holder control over whether other scientists can perform research to find out the meaning of different mutations along the patented genes. We need to make sure other researchers are free to study unknown mutations like mine. The way it is now, I and other patients have to depend on the decisions made by a single company.
Ellen T. Matloff, M.S.
In the early 1990s, the highly anticipated identification of BRCA1 and BRCA2 was greeted with both enthusiasm and caution by the scientific community. It was clear that this testing could radically change the lives of many women from families with hereditary breast and ovarian cancer. They could now learn definitively whether they carried a mutation placing them at lifetime risks of 50 percent to 85 percent for breast cancer and 15 percent to 60 percent for ovarian cancer.
Ellen Matloff, MS
But it was the unanticipated issue about patents, and the forced monopoly that ensued, that captured the ethical spotlight in the BRCA testing debate. BRCA1 and BRCA2 were identified as a result of a large, international research collaboration funded from a variety of sources including government agencies such as the National Institutes of Health. Although various researchers contributed to the identification of both BRCA1 and BRCA2, patent rights were granted to the privately owned biotech firm Myriad Genetics, Inc. These particular patents have a very broad scope, including genetic testing for mutations within the genes BRCA1 and BRCA2, and new drugs that could be targeted toward these genes. In a move that was unprecedented in the field of genetic testing, Myriad Genetics then opted to strictly exert its monopoly rights on the genes in the United States.
Myriad has since set up a direct-to-consumer (DTC) marketing campaign. The effort to utilize DTC to encourage consumers to seek genetic testing bears close examination. Ironically, the company bills its DTC campaign as a “public awareness campaign,” although it omits most of the information key to educating the public about BRCA1 and BRCA2 testing.
And how are the patients faring in this campaign? There are reports of an increase in the number of women whom have had BRCA testing without having genetic counseling by a qualified professional, first. Horror stories of age 20-something women being advised to find a man, get married, have children, and have their ovaries and breasts removed as soon as possible have been reported. Other women have been falsely told that their mutation was a normal result, that their normal result was a mutation, or that a variant of uncertain significance was disease-causing – all incorrect, all potentially leading a woman and her entire family to make drastic and perhaps life-threatening decisions based on a result misinterpretation.
Does it really make good public policy to leave public education about BRCA1 and BRCA2 testing in the hands of those who profit directly from the use of a test they fought hard to patent? Given the flood of genetic testing soon to move into clinical practice it is time to create public policies that give priority to truly educating the public, creating standards for accurate marketing and ensuring proper continuing education for healthcare professionals. Myriad’s DTC campaign shows that there is not much time remaining if those who might avail themselves of genetic testing are to be protected against commercial manipulation, masquerading as sound public health education. For that reason, I support the efforts of the ACLU and the Public Patent Foundation to challenge the patenting of human genes.
This statement was adapted from an article that first appeared in The American Journal of Bioethics (Matloff, E., Caplan, A. (2008). Direct to Confusion: Lessons Learned from Marketing BRCA Testing. The American Journal of Bioethics, 8(6): 5-8.)
Our Bodies Ourselves is joining this lawsuit because, as an organization that is deeply invested in health care and research for medical cures that would be accessible to all members of the public, we oppose the patenting of human genes.
Our mission is to provide women with clear, truthful information about their health, including information on breast and ovarian cancer, from a feminist and consumer perspective, and to advocate for women’s health by challenging institutions and systems that block women from full control over our bodies.
About OBOS »
We believe that Myriad’s control of patents on the BRCA genes creates severe impediments to women’s access to medical information necessary for making key health care decisions and impedes women’s control over our own health care.
Myriad’s monopoly of the genes prevents others from conducting diagnostic tests on the BRCA genes and from developing alternative tests. This means that there is no way for a woman to know if the test has been done properly, to confirm whether the results are accurate, or to get a second opinion. Because it has no competition, Myriad can charge exceptionally high rates for its testing – currently more than $3,000 – which many women cannot afford, locking out many women who seek the test to determine the best course of action for their treatment.
Despite assertions to the contrary, the patenting of human genes impedes rather than promotes research and leads to inappropriate increases in health care costs. Contrary to the patent system’s aim of encouraging innovation, the privatization and exclusive control of human genes is not only inhibiting biomedical research, it is also interfering with patient care, and runs counter to traditions in patent law serving to protect the public health and welfare.
Our hope is that this lawsuit will eliminate this illegal obstacle to women’s health care and open up access to appropriate testing and more research and information on the prevention and treatment of breast and ovarian cancers.
Dr. Harry Ostrer, M.D.
My professional career has been focused on understanding how genetic predispositions cause us to become who we are and, in turn, sharing that information with my patients and the public at large. Some of the conditions that I have studied, such as disorders of sexual development – people who have the chromosomal constitution of one sex and the appearance of the other – are quite rare. Others, such as breast and prostate cancer, are common.
Harry Ostrer, MD
Some of this work has involved studying the BRCA1 and BRCA2 genes as well as identifying other genes that influence peoples’ risk of developing cancer. Currently, I am recruiting hundreds of women into a new study to identify other genes associated with a risk of breast cancer. This study is important, since only a fraction of women at risk of developing hereditary cancer have a BRCA gene mutation. Unfortunately, once such new genes are identified, the use of this information in clinical practice could be limited because it might be viewed by Myriad Genetics as infringing on its BRCA patents.
I oversee the genetic risk assessment program at the NYU Langone Medical Center (NYULMC) as well as New York’s Bellevue Hospital, two medical centers which serve very different populations. At NYULMC, we send the genetic samples of hundreds of women and men each year to Myriad to be tested for the BRCA mutations. In fact, we have been told by our Myriad sales representative that NYULMC is their second leading referral site. Yet at Bellevue, in the very same city, we sent the genetic samples of only 64 high risk women to Myriad between 2004 and 2008. This is because many of the patients at Bellevue don’t have health insurance and they can’t afford the high price Myriad charges for the testing.
Another problem with Myriad’s labs doing all the diagnostic testing on the BRCA genes is that its test often returns a result of “variants of unknown significance,” which can be confusing to patients and physicians and leaves them wondering whether or not they are at increased risk of developing cancer.
In 2004, I suggested a collaborative study to Dr. Brian Ward, then the Laboratory Director at Myriad Genetics, that might ameliorate the confusion caused by tests resulting in variations of unknown significance. Dr. Ward’s response was to take me on a tour of Myriad’s quite impressive laboratory facility in Salt Lake City and assure me that Myriad knew better than I.
Following the release of the human genome sequence, I hosted a series of conferences at NYU School of Medicine, Human Genome 2001. The first was “Who Owns the Human Genome?” where Seth Schulman, the author of Owning the Future, pointed out that sometimes, rather than encouraging innovations patents can stifle it. He believed that human gene patents represented such a case. In breast cancer genetic testing, for example, we have seen no innovation in the past five years – since Myriad Genetics introduced its most recent test.
Every day I think about how the findings of the research laboratory can be translated into new genetic tests that might benefit, not harm, people. Gene patents present significant hurdles to my work, and for that reason I joined the ACLU’s challenge.
My name is Kathleen Raker. I’m a 41-year-old mother of two and live with my family in North Central Pennsylvania. Both my mother and maternal grandmother died from breast cancer. I’m worried about having a genetic predisposition for cancer but haven’t been able to afford an additional test that would give me information about my genes. I’m joining this lawsuit because I believe that gene patents should not prevent access to testing to people who find themselves in situations like mine.
I got BRCA testing from Myriad in 2007, and it was negative. But I found out that there was additional testing that would look for other genetic links to cancer on the BRCA genes that were not covered by the test I received. I was upset to learn that this additional testing was offered separately, at an extra cost, and that I would probably need to pay up front. I haven’t gotten this additional testing because I can’t afford it.
Since childhood I have worried about cancer. This test would give me information I need to make life-changing medical decisions. There are so many unknowns. Why did my mother and her mother die from breast cancer? Medical records and DNA of deceased relatives are forever lost. It is not known whether BRCA genes mutations were linked to the breast cancer deaths in my family. But by this additional testing it is knowable whether my BRCA genes have rearrangements that are linked to a high risk of cancer. If I learned that I definitely inherited a genetic link to cancer, it would significantly change how I would protect my health.
I keep thinking about the legacy of motherless children in my family. From breast cancer, my mother died when she was only 28; my grandmother, at 52. My great grandmother (maternal grandmother’s mother) died from the influenza at 33. I really want to be here for my kids. It is important for me to make informed decisions about my health.
Elsa Reich, M.S.
As a genetic counselor for almost 35 years in the Department of Pediatrics at New York University School of Medicine, I have cared for thousands of individuals and families with a wide variety of concerns about the potential for hereditary disease and of congenital abnormalities in themselves or their family members. The practice of genetics changes from day to day and I have been privileged to participate in this change. At the time that I embarked on my career we offered genetic testing to a small fraction of our patients, most frequently chromosome studies.
Elsa Reich, MS
Today we offer genetic testing of some kind to almost 95 percent of our patients. There are many laboratories performing these tests, both academic, non-profit laboratories and private laboratories. Because there is a great burden to patients when there is no answer to the question “Why?” we as genetics professionals, go to great lengths to find those answers. We are dealing with uncommon disorders and we may spend a significant amount of time finding a laboratory to perform a specific test and we may not obtain an answer. Sometimes, we are not comfortable that there is no answer and we look further. Although there may not be an answer, we are obliged to ask.
When we have only one laboratory that we can use, we have no way of saying to our patients, “let’s do this a different way”, or “let’s ask someone else.” Sometimes our patients say, “Let’s try another laboratory. Maybe this laboratory made a mistake or maybe there is another method to look at the genes.” Together we make an effort to exhaust all of the possibilities. Having only one laboratory to perform a test because the genes are patented restricts our ability to ask for another opinion. A second opinion is frequently a must in medicine when there are important decisions to be made. We should also have the opportunity to have a second or even a third opinion when it comes to genetic testing.
I am lending my voice to this lawsuit because I feel that patients deserve the opportunity to benefit from competition; the competition that brings new methods to the testing procedure; the competition that allows all comers to participate in the research and provide answers to more patients; the competition that allows for the provision of a second opinion.
My name is Vicky Thomason. I live in Kentucky and work as a midwife for horses. I’m in my early ’50’s and was diagnosed with ovarian cancer three years ago. I joined this lawsuit because I do not think one company should control genes that are linked to breast and ovarian cancer.
After I was diagnosed with ovarian cancer, my doctor recommended that I get BRCA genetic testing to see if I was also at a higher risk for breast cancer because there is a history of it in my family.
When my test results came back, they were negative, but my doctor told me that I needed an additional test offered by Myriad – not included in its original test package – to be able to get a more complete answer. The additional test looks for other mutations that are associated with cancer.
The problem is that the additional test costs more than I can afford. I don’t get paid a big salary and neither does my husband who is disabled. It’s been almost two years since the extra test was recommended but I still can’t afford it. I get up every day not knowing if I have a mutation.
I really need that test so I can make an informed decision on whether or not I should have a mastectomy. I’ve already survived ovarian cancer and just can’t imagine going through cancer again. If I knew I had a mutation, I would probably take preventative measures but since I don’t know, I can’t decide what to do. I’m in this position because Myriad has patented the genes and decided to split up the genetic testing it offers into separate tests. This is very frustrating to me.
Dr. Stephen T. Warren, Ph.D.
As a human geneticist involved in both disease gene discovery and clinical genetic testing, I believe exclusive patent licensing for genetic tests to be highly inappropriate. Such exclusive licenses leave little incentive to the license holder to improve the tests and/or gather further outcome data that would enhance patient care. Even if an improvement in testing methodology is available, another laboratory is prohibited by the exclusive license from implementing the testing refinement.
Moreover, education of the next generation of laboratory medical geneticists is hampered by the inability to gain substantial genetic testing experience with tests protected by exclusive licenses.
Stephen Warren, PhD
Finally, with the completion of the human genome and improvements in DNA sequencing methodologies, full genome sequencing of individual patients is soon to be affordable. However, there will be many genes – such as BRCA1 – covered by an exclusive license, where clinical sequence evaluation will be prohibited. As it currently stands, because of exclusive gene testing patents, no single laboratory in the United States could offer full genome sequencing for clinical purposes. Is this fair to the taxpayers – potential patients – who footed the $3 billion cost of the genome project?
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