Exclusive Patents on the BRCA Genes: Adding Burden to an Already Overburdened Cancer Community March 2, 2012Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, Uncategorized, uterine cancer, vaginal cancer.
Tags: BRAC2, BRCA1, cancer, gene, genetics, patents, patient care
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By Sue Friedman, Executive Director, Facing Our Risk of Cancer Empowered (FORCE)
As part of the ACLU’s Taking Back Our Genes campaign , guest blogger Sue Friedman, the Executive Director of FORCE, describes the adverse impact the exclusive patents on BRCA1 and BRCA2 have on the cancer community.
It is our position that the awarding of exclusive patents for the BRCA1 and BRCA2 genes to Myriad Genetics has adversely affected access to care and research specific to hereditary breast and ovarian cancer, adding additional burden to our already overburdened hereditary cancer community. For that reason, we support the litigation challenging the BRCA gene patents and filed an amicus brief with the U.S. Supreme Court with other patient advocacy groups.
In our 13 years of advocating for and serving the hereditary cancer community, we have seen firsthand the adverse effects of exclusive gene patenting.
Exclusive licensing of BRCA testing stifles research, including:
Research on PARP inhibitors, targeted therapy for BRCA-associated cancer: We believe that the BRCA gene patent has had a profound impact by delaying and slowing the development of targeted cancer therapies for people with BRCA mutations. PARP inhibitors are a class of drugs that were developed based on scientists’ knowledge of how hereditary cancers develop in people with BRCA mutations. The drugs showed activity and early studies were promising in several types of hereditary cancers including breast, ovarian, and prostate. PARP inhibitor research has been ongoing since 2005, and today, seven years later, the drugs have yet to gain FDA approval. After meeting with the FDA, we were told that for targeted therapies that benefit a distinct population (such as people with a BRCA mutation) to receive FDA approval, they require that any companion laboratory test identifying a target population must be FDA approved as well. BRACAnalysis — Myriad’s test for BRCA mutations is not FDA-approved. Myriad is a CLIA-approved laboratory; they were never required to receive FDA approval in order to market their test, and it doesn’t appear that they have plans to seek FDA approval. Because Myriad holds the patent on the gene, no other lab can develop an FDA-approved test to identify BRCA mutation carriers.
Research that helps determine which BRCA genetic changes are deleterious and which are not: BIC (Breast Information Core) is a large international consortium organized by the National Human Genome Research Institute (NHGRI), which is part of the National Institutes of Health. BIC’s goal is to provide critical research to determine gene changes that may be cancer-causing versus those which aren’t. Around 2004, Myriad stopped contributing data to the BIC database. About 7 percent of BRCA tests return with an inconclusive result and data from BIC is used to help better classify these variants to determine if they are cancer-causing. According to a 2010 article in the Genomics Law Report, Myriad quietly stopped contributing data to BIC in favor of building its own database to retain a competitive advantage over other gene testing companies once their patent runs out.
Exclusive licensing negatively impacts BRCA test interpretation: Myriad’s decision to no longer contribute to the BIC database has impeded the interpretation of a type of inconclusive test result known as a Variant of Uncertain Significance (VUS). Once the patent does expire, the fact that Myriad no longer contributes mutation information to the BIC consortium will limit other laboratories’ ability to interpret certain test results. A 2011 article from the New York Times suggested that withholding this data may provide a competitive benefit to Myriad over other laboratories after their patent expires. But it comes at the cost of critical information that could help provide information to families that have inconclusive genetic test results right now.
The excessive cost of testing limits access and negatively affects clinical care: There is now evidence-based information demonstrating that identifying those who have the highest risk for breast and ovarian cancer can lower breast, ovarian, and all-cause mortality through genetic testing and surgical prevention. The cost of prevention, both in dollars and human lives, is less than the cost of treating cancer once it is diagnosed. Yet, people are being denied access to critical health information due to the excessive cost of BRCA testing. Financial assistance for BRCA testing is limited, especially for people who have any type of health insurance. With patent exclusivity and a monopoly on the test, Myriad has increased the cost of their test even as the cost of genetic technology and gene sequencing has gone down. The full-sequencing BRCA testing costs about $3,500, making it cost-prohibitive for many people. Further, Myriad charges an additional $750 for expanded testing known as BART to look for mutations known as large rearrangements in some people who test negative with full BRCA sequencing.
You can learn more about FORCE’s advocacy here.
And if you agree that human genes should not be patented, please join us in Taking Back Our Genes.
Hereditary ovarian cancer: Beyond the usual suspects. February 13, 2012Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, Uncategorized, uterine cancer, vaginal cancer.
Tags: BRCA1, BRCA2, BRIP1, DNA, hereditary ovarian cancer, RAD51C, RAD51D
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Hereditary ovarian cancer: Beyond the usual suspects.
In the past, hereditary ovarian carcinoma was attributed almost entirely to mutations in BRCA1 and BRCA2, with a much smaller contribution from mutations in DNA mismatch repair genes. Recently, three new ovarian cancer susceptibility genes have been identified: RAD51C, RAD51D, and BRIP1. In addition, germline mutations in women with ovarian carcinoma have been recently identified in many of the previously identified breast cancer genes in the Fanconi anemia (FA)-BRCA pathway. While mutations in genes other than BRCA1 and BRCA2 are each individually rare, together they make up a significant proportion of cases. With at least 16 genes implicated in hereditary ovarian cancer to date, comprehensive testing forovarian cancer risk will require assessment of many genes. As the cost of genomic sequencing continues to fall, the practice of evaluating cancer susceptibility one gene at a time is rapidly becoming obsolete. New advances in genomic technologies will likely accelerate the discovery of additional cancer susceptibility genes and increase the feasibility of comprehensive evaluation of multiple genes simultaneously at low cost. Improved recognition of inherited risk will identify individuals who are candidates for targeted prevention. In addition, identifying inherited mutations in a variety of FA-BRCA pathway genes may aid in identifying individuals who will selectively benefit from PARP inhibitors.
Tags: BRCA1, BRCA2 gene, CA-125 blood test, ovarian cancer, pelvic exam, symptoms, trans-vaginal ultrasound
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Annette Mattern: What Every Woman Should Know About Ovarian Cancer
“How do I know if I have ovarian cancer?” the question most asked by women about the disease that, for years, was called the silent killer. Ovarian cancer is the fifth leading cause of cancer-related death among U.S. women and yet, most women know very little about it.
What you should know:
1. Every woman is at risk.
2. One is 72 women will develop ovarian cancer; one in 95 women will die from it.
3. Increased risk factors:
• Personal history of breast cancer
• Family history of breast or ovarian cancer.
• BRCA1 or BRCA2 genes, responsible for 5-10% of ovarian cancers. Women of Ashkenazi Jewish descent are at higher risk of carrying these mutations.
4. There is no screening tool, not even the PAP, so it is critical that women recognize the symptoms as early as possible.
• Stage I recurrence rate is only 10%.
• Stage III or IV (about 75% of cases) recur 85-95% of the time. Their 5-year survival rate is only 46%.
5. 95% of women with ovarian cancer experience symptoms, 90% at early stage. Symptoms:
• Pelvic or abdominal pain
• Difficulty eating or feeling full too quickly
• Urinary urgency or frequency
Other symptoms: fatigue, indigestion, back pain, pain with intercourse, constipation and menstrual irregularities.
What you should do:
If you exhibit persistent symptoms for more than a few weeks and this is not normal for your body, see a gynecologist. Your exam may include a CA-125 blood test, pelvic exam, and a trans-vaginal ultrasound. The only conclusive way to determine if it is cancer is by performing a biopsy.
Help spread the word.
Most women with ovarian cancer were misdiagnosed for years while their cancer spread. An earlier diagnosis is a woman’s best hope for a good prognosis.
Annette Mattern is a 21-year survivor of ovarian cancer and recently survived breast cancer. She is the founder and president of the Ovarian Cancer Alliance of Arizona and serves on the board of directors of the Ovarian Cancer National Alliance. Her book on survival, Outside The Lines of Love, Life, and Cancer, is available on http://www.amazon.com.
Know your risk of breast-ovarian cancer syndrome November 23, 2008Posted by patoconnor in cancer, gynecological cancer, ovarian cancer, tubal cancer, uterine cancer, vaginal cancer.
Tags: BRCA1, BRCA2 gene, breast cancer, breast-ovarian cancer syndrome, mammogram, ovarian cancer, self exam
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Know your risk of breast-ovarian cancer syndrome
By Cindy Ward (firstname.lastname@example.org)
Story Updated: Nov 21, 2008 at 6:01 PM EST
Early detection saves lives. This is even more important if you have a family history of breast cancer or ovarian cancer. Studies show there is a link between the two diseases.
Dr. Michael Method is a gynecological oncologist. He says having breast cancer can put you at increased risk for ovarian cancer over time and vice versa. It’s called breast-ovarian cancer syndrome.
“Anyone who has ovarian cancer is not only high risk of developing breast cancer, they’re much higher risk of being a carrier of the gene that actually predisposes them and their family to breast cancer,” Method explained.
The increased risk is connected to mutations in what are called the BRCA1 and BRCA2 genes. Knowing your risk gives you the advantage.
There is preventative action you can take. For instance, getting a mammogram at an earlier age, and doing your self-exam.
Remember, we’ve partnered with Saint Joseph Regional Medical Center to bring you the Pink Pack program.
Here’s how it works:
You pick a friend to be your Pink Pack Pal. Then you request a Pink Pack.
You’ll get a breast self-exam guide, a pen and a kitchen magnet — one for you and one for your Pink Pack Pal. We’ll remind you on the 22nd of every month to call your Pink Pal and remind her to do her breast self-exam. And remember to do yours the same day. Early detection saves lives.
Become a member of the Pink Pack right away — it could save a life.