Tag Archives: Breast Cancer

Dear Senator . . .

Plea from a cancer survivor and scientist to save the ACA and science funding

 

Dear Senator,

My name is Kiran Dhillon and I live in Seattle, WA (98102). I am writing to ask you to help save the Affordable Care Act and to strongly support increased funding for scientific research.

In March 2015, I was diagnosed with breast cancer. The news was devastating but I powered through surgery, chemotherapy and radiation. I even met you at a fundraiser for you in West Seattle soon after I had lost my hair to chemotherapy. At the time, I was a scientist at the Fred Hutch, studying chemotherapy resistance in breast and ovarian cancers of all things. I had excellent insurance and acquired only a few thousand dollars in debt from medical bills. Now as I wait for my 2 year mammogram on March 10, I find myself filled with an enormous amount of anxiety. My cancer was found early so the prognosis is very good but I still can’t help being nervous before the big test. This time around, the prospect of repeal of the Affordable Care Act has added another dimension to the anxiety. I have insurance now but if I ever had a recurrence, would I be denied coverage due to preexisting conditions if President Trump and Republicans had their way with the repeal of the ACA? This thought terrifies me. Would I have to make decisions based on my financial ability instead of my medical needs? Would I become a burden for my family?

As a scientist and someone who now promotes scientific research as the Director of Scientific Programs for the Rivkin Center for Ovarian Cancer, I’m also alarmed at the prospect of reduced funding for scientific research. Men and women who are currently battling or have survived the horrible ordeal of cancer are depending on scientists across the nation to continue to work hard until we have a cure for these deadly diseases.

The United States has been the leader of research and innovation since the time of Benjamin Franklin—a tradition that continues today. I believe there are (at least) two major factors that have contributed to our success and both are under threat with the new administration. First, we invest more at the federal level on research and development than any other country. Second, our immigrant past and present ensure a diversity of ideas and approaches that are required to solve difficult scientific, medical and engineering challenges. The policies and tweets of the current White House administration threaten both federal funding for research and development and immigration and diversity. We will surely not remain leaders in innovation and research if these trends continue.

Senator, we need you and your colleagues in both the Senate and the House to fight for us. Fight for cancer survivors like me. Fight for the ACA. Fight for science. Fight for immigrants. We also promise to do our part. As you have seen we have organized ourselves. You and your colleagues will hear from us. We will provide you the public support you need to help defend our freedoms and rights to equality, healthcare and a healthy environment. Fight for America.

I appreciate your help and ask that you please send me a response with a commitment to protecting the ACA and funding for research. Thank you for your time and considering my request.

Sincerely,

KD Signature

Kiran Dhillon, PhD

Gene patents? No thank you!

The US Supreme Court ruled this morning that human genes cannot be patented. My research and clinical colleagues are overjoyed! The suit was brought forward by the Association for Molecular Pathology against Myriad Genetics. The defendant, Myriad Genetics, has held patents for the BRCA1 and BRCA2 genes since the mid 1990’s. Women with mutations in BRCA1 and BRCA2 are at high risk for developing breast and some other  kinds of cancers. Men with mutations in BRCA2 are also at a high risk for breast cancer.

Myriad Genetics has been the only company that clinicians could refer patients for identification of BRCA1 and BRCA2 mutations. Myriad Genetics has not licensed other companies to do the testing. It costs around $3000 to get the test done and most insurance companies cover the cost for patients with family history of breast and/or ovarian cancer. If you can shell out the $3000, Myriad Genetics conveniently offers direct-to-consumer testing for BRCA1 and BRCA2—allowing you to bypass your physician altogether!

The monopoly held by Myriad Genetics will now come to an end. It was wrong to begin with!

Why should a company be able to patent genetic information that exists in all of us? Patenting the technology or method used for discovery of the genetic material or gene sequence is legitimate but not the sequence itself. It seems absurd to me that a company can file for a patent for a naturally occurring phenomenon. Our bodies have been making use of that genetic information for a lot longer than Myriad Genetics has been in existence—sans patent.

The Supreme Court ruling is a win for patients (consumers). With the patent ruled unconstitutional, other companies can develop methods or use existing, publicly available, technologies, to sequence BRCA1 and BRCA2, in addition to other cancer susceptibility genes. With additional competition, we can hope for a test that costs less than $3000. This is a reasonable expectation since scientists are currently racing to sequence the entire human genome (>20,000 genes and other non-genic regions) for $1000. We can also hope that these companies will encourage public sharing of information about different mutations that may us better understand a class of mutations called variants of unknown significance, discussed elsewhere. Myriad Genetics stopped sharing this kind of information a few years ago because it “doesn’t make a lot of business sense,” according to CEO Peter Meldrum1.

What about business and the bottom line? Myriad Genetics will continue to profit from BRCA1 and BRCA2 testing as they hold the experience, expertise and a large database. Perhaps the profit margin may go down as competitors enter the market. There is now space in the market for others to get a piece of the commercial genetic testing pie.

Overall, this is a huge victory–for patients, clinicians and scientists.

1 http://www.bloomberg.com/news/2012-12-28/myriad-stymies-cancer-answers-by-impeding-data-sharing.html

Brainstorm for breast cancer

As the recipient of the Thomsen Family Breast Cancer Research Fellowship, I was invited to speak about my work on chemotherapy resistance in breast cancer at a gathering of the Breast Cancer Research Institute. In the audience were breast cancer clinicians (surgeons, oncologists, radiologists) and research scientists (basic scientists, translational biologists, epidemiologists) from the Fred Hutch/Seattle Cancer Care Alliance and the University of Washington.

This was a rare opportunity for both clinicians and basic science researchers to share data and have the opportunity to collectively help move the field forward. Following my presentation and presentations by other award recipients, there was a round-table discussion to do exactly that. We were provided with a list of directives to guide how breast cancer research should be funded at the local level and, as a table, asked to provide feedback on those directives.

My table consisted of one other basic scientist and three radiologists who develop and modify MRI techniques for early and better detection of breast tumors. As we discussed the merits of the listed directives, one of the radiologists shared that he thought large data-gathering consortia (which collect many different kinds of data from a large number of patients) may be a waste of resources as those efforts are not driven by a specific hypothesis (or idea) to be tested. The basic scientist and I responded that for us those large data-sets are invaluable! We can test hypotheses that we develop on non-clinical, lab-based experiments on patient data available in those data sets. A great discussion followed.

This anecdote demonstrates the importance of having such round-table discussions among researchers and clinicians. We can best evaluate effective strategies and the most appropriate use of resources working together. It was a rare opportunity to brainstorm with experts from different fields. All of our approaches and contributions may be different but we all share the same goal–improve survival from breast cancer by developing strategies to better prevent, detect, and treat this terrible disease.

Angelina Jolie’s Story—An Incomplete Picture

In an op-ed piece in The New York Times, actress and director Angeline Jolie wrote that she recently had a prophylactic double-mastectomy to reduce the chances of developing breast cancer, a disease that took her mother’s life. She explained that she carried a “’faulty’ gene, BRCA1” which puts her at high risk for developing breast and ovarian cancer. She underwent the double mastectomy to reduce the risk of breast cancer by removing the tissues that generally give rise to tumors.

I heartily applaud Jolie’s documentation of a very personal experience on such a public platform in an attempt to encourage women with family history of breast and ovarian (and other) cancers to have open discussions with their medical professionals about genetic testing and possible preventative options that may be available to them. I can’t stress how important it is to have open conversations about scary health issues like breast cancer, especially since they may be tied with health, identity and possibly sexuality.

However, I must admit that as a scientist who studies BRCA1-associated breast cancer, I also felt a sense of alarm as I read the article. Many thoughts whirled in my head. Jolie’s focus on primarily breast cancer in women with BRCA1-mutations and double-mastectomy as a preventative option is far from complete. Though I respect Jolie for speaking openly about her personal matter, I feel that she and others who speak on such matters in public platforms have a responsibility to make the discussion as close to complete as possible. As a person of great influence, I wish she had provided a more complete picture, especially to a world in which medical and scientific information is often presented over-simplified to the brink of being inaccurate (more on this in another blog).

Below I attempt to touch on a few of the issues and questions that were largely ignored in Jolie’s piece.

Is it really that simple?

The article suggests that it’s quite straightforward: Everyone can go get tested for BRCA1 mutations and if positive for a mutation, can get a double-mastectomy and they’re cancer free! Let’s ignore for the moment that mutations in BRCA2, and a growing number of genes involved in similar cellular pathways, also lead to increased breast cancer risk. It also implies that mastectomy is the only preventative option available. Generally, women with family history or with known BRCA mutation are followed closely to allow early detection (and treatment) of breast cancer though they tend to have slightly higher risk of breast cancer (a yearly incidence of 2.5%) than those who have undergone prophylactic mastectomies (Meijers-Heijboer et al). Other, less invasive, options exist.

What is the impact on healthcare and more?

How many women without family history of cancer will visit their physicians and demand testing for BRCA? As Jolie mentions, the current cost of genetic testing for genes for breast cancer predisposition is over $3000. It is currently recommended for individuals who have family history of breast and ovarian cancer (and sometimes others) to have genetic testing to look for disease causing mutations and insurance generally covers this cost. We must think about the general impact on the cost of healthcare more broad genetic testing will have (at current costs), without even considering the cost of additional doctors’ visits by individuals at low-risk.

Another complication is what is known in the BRCA research and clinical community as ‘Variants of Unknown Significance’ or VUS. VUS refers to ‘mutations’ in BRCA1 that may just be changes in the gene that are not known to lead to cancer. We all carry differences in our genetic code in many of our genes compared to others in the human population. Many of these changes are benign—they don’t have any perceivable effect on our biology and health. We usually refer to changes in our genetic code that do have a perceivable effect on our health as ‘mutations.’ It is unclear whether a lot of the changes that are known to exist for BRCA are benign or real mutations. We must consider the potential scenario of a nervous individual with a benign VUS deciding to undergo major surgery like prophylactic mastectomy or oophorectomy (see below). Is the benefit in this case worth the physical, emotional and financial costs?

What about the ovarian cancer risk?

Discussing breast cancer (and preventative mastectomy) without a thorough mention of ovarian cancer for BRCA1-mutation carriers is an incomplete discussion. Jolie briefly touches on ovarian cancer risk; she does not provide it the weight it deserves. Granted I may have a biased perspective as a breast cancer researcher, I don’t perceive education on breast cancer in the US to be lacking. We are constantly inundated with emails, media campaigns, professional sports stars wearing pink athletic shoes, among other things that bring awareness to the real dangers of breast cancer. We have many options (with varying degrees of effectiveness) for early detection of breast cancer.

Ovarian cancer is a different beast. One of the biggest problems with ovarian cancer is that it is often not detected until it is progressed to an advanced stage. Chemotherapy and surgery are among the treatment options that can increase survival but the prognosis is generally not great, 5-year survival rates of 18-35% for aggressive, late-stage disease (American Cancer Society). For individuals with advanced risk, like BRCA1 mutation-carriers, prophylactic oophorectomy (preventative removal of the ovaries), which can accompany removal of other organs like fallopian tubes, is an option. But, it’s complicated. It’s a difficult decision since it can affect when a woman has children and has many long-term health complications including hormonal changes, increased risk for osteoporosis and cardiovascular disease. Furthermore, risk of ovarian cancer after surgery is lowered not eliminated.

I thank Angelina Jolie for sharing her personal story with women and opening up conversation about genetic testing for women at high risk. The story is much, much more complicated. It is imperative that those who have the knowledge and the platform inform the public in the most thorough way possible.

References

American Cancer Society: www.cancer.org

Meijers-Heijboer, H., et al. (2001) Breast cancer after prophylactic bilateral mastectomy in women with BRCA1 or BRCA2 mutation. The New England Journal of Medicine, 345 (3): 159-164.