Category Archives: Cancer

by | May 15, 2013 · 8:30 am

The consequence of patents on BRCA genes

Guest post by Sue Friedman

On April 15, 2013, the U.S. Supreme Court heard arguments on whether Myriad Genetics’ patents on the BRCA genes, which are associated with hereditary breast and ovarian cancer, should be upheld. This case culminates a four-year legal tug-of-war between Myriad Genetics & Laboratories and a long list of individual, advocacy, and health care professional groups represented by the American Civil Liberties Union (ACLU) . The plaintiffs agree that regulations allowing exclusive gene patents negatively affect access to care and research.

I was fortunate when I was first tested for a BRCA mutation in 1998: my testing costs were covered by my health insurance. Although I was initially tested without genetic counseling, I eventually went to a large cancer center for a second opinion, met with a genetics expert, and gained access to up-to-date, credible information. It wasn’t until I started FORCE  (Facing Our Risk of Cancer Empowered) that the deeper implications of patenting the BRCA genes became apparent to me.

In the Family, a 2009 documentary by producer Joanna Rudnick, highlights some negative consequences of Myriad’s gene patents. The film includes eye-opening interviews with Dr. Mark Skolnick, Myriad’s founder, and Dr. Mary-Claire King, who is credited with locating the BRCA gene. King’s research proved the existence of hereditary breast cancer gene mutations and laid groundwork that sent laboratories racing to be the first to isolate and clone the gene for genetic testing.

Rudnick questions how a gene—a product of nature—can be patented, stating, “It’s like patenting your thumb.” Skolnick replies by comparing Myriad’s gene patents to patents for iPods, telephones, and computers, cavalierly asserting, “I think the single greatest inventive thing I did was to create Myriad. We did it to win the race . . . and we won.” A recent article on NOVA Next highlights just how narrowly that race was won. Although a laboratory in the United Kingdom had already sequenced the BRCA2 gene, Myriad published and applied for a patent less than 24 hours before the British scientists could publish their manuscript. Had the British team’s findings been published just a day earlier, Myriad’s effort to patent the BRCA2 gene would have probably failed.

Rudnick asks Dr. Skolnick point-blank why the cost of BRCA testing continues to increase, to which he replies, “I think there’s a point at which we have to start looking at decreasing the cost of the test.” That decrease has never been realized. Four years later, BRCA testing is more expensive—Myriad charges $3,500—even though technology has reduced the cost of sequencing DNA. The February 6, 2013 edition of the Salt Lake Tribune reported that “Myriad projects full-year 2013 revenue will fall between $575 and $585 million . . . a 16 to 18 percent increase over fiscal 2012.”

Dr. King’s philosophy regarding the commerciality of gene patents starkly contrasts with Skolnick’s. “The critical thing about the patents we hold is that none of them are exclusively licensed. They are completely open for anyone to use for research purposes, and any company that wishes to license them can for a trivial amount of money,” she says. King’s last royalty check amounted to $2.73. It’s not difficult to imagine how different BRCA testing might be had King won the race to sequence the BRCA genes.

In the interview, Skolnick defends Myriad’s profits by saying “If we make this huge . . . investment in educating the market don’t we have a right to deliver the test?” Skolnick continues, “All I know is that doctors were not prepared to do this. We had to teach doctors.” In 2008 and again in 2009 FORCE testified to the Secretary’s Advisory Committee on Genetics Health and Society, expressing both our general concerns regarding direct-to-consumer marketing of genetic tests and our specific concerns about Myriad’s marketing practices, which encourage BRCA testing without prior genetic counseling from qualified experts. FORCE has documented and reported our concerns about Myriad’s methods of marketing BRCA testing, which we feel are harmful and misleading to the health care community and members of the HBOC community. We also concur with the ACLU that exclusive gene patents negatively affect access to care and innovation in research, as illustrated by our testimony to the United States Patent and Trademark Office.

The SCOTUS decision is critically important for anyone who is concerned specifically with hereditary disease. FORCE has filed an Amicus brief on behalf of plaintiffs in advance of the hearing. The Myriad case is just one example of how exclusive patents on genes can hurt consumers. Gene patents are a universal issue that ultimately affects all of us. Even if hereditary cancer does not run in your family, chances are that you have inherited a genetic predisposition to some disease. Imagine if a company were given exclusive control over all testing and research for a disease that runs in your family.

Early media reports indicated that SCOTUS appeared skeptical of the validity of gene patents and may rule in favor of the plaintiffs. A ruling is expected by the summer. In the meantime, FORCE will continue to speak out and advocate on this important issue and others that impact the community we serve. I strongly encourage people to become informed about the issue and to take the time to voice their opinion.

FriedmanSue Friedman, D.V.M., is the founder and executive director of Facing Our Risk of Cancer Empowered and coauthor of Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your Options, Change Your Destiny.

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by | September 17, 2012 · 11:39 am

What women can do about ovarian cancer risk

Guest post by Sue Friedman, DVM, Rebecca Sutphen, MD, and Kathy Steligo

After soliciting input from health care experts and the public, the United States Preventive Services Task Force (USPSTF) recently reissued guidelines on ovarian cancer screening for women who are at average risk for the disease.

According to the USPSTF, “No new evidence was found on the benefits of screening for ovarian cancer. New evidence on the combination of ultrasonography and cancer antigen-125 blood tests for screening suggests that abnormal test results may result in surgery for a substantial proportion of women who do not have cancer.” Based on these findings, the USPSTF recommends, “…against screening for ovarian cancer in women. This recommendation applies to asymptomatic women. Women with known genetic mutations that increase their risk for ovarian cancer (for example, BRCA mutations) are not included in this recommendation.”

Ovarian cancer is a life-threatening disease that is typically diagnosed at advanced stages. Given this update, it would be easy to conclude that nothing can be done about it, but that is not the case. Unfortunately, many media reports of the USPSTF’s recommendation omitted this key piece of the new guidelines: “Women with an increased-risk family history should be considered for genetic counseling to further evaluate their potential risks.”

It is true that current screening methods are less than effective for women who are at average risk, and can lead to false positives and unnecessary worry, surgeries, and harm. Early detection is the subject of ongoing research and an area that we have much to learn about. We do, however, know quite a bit about assessing a woman’s risk for ovarian cancer, and we have strategies to manage risk and lower mortality that are most effective in women who are at very high risk, including women with:

  • One or more relatives with ovarian, colon, uterine, pancreatic, or young-onset breast cancer
  • Certain gene changes (mutations) called BRCA1 and BRCA2, which are associated with Hereditary Breast and Ovarian Cancer Syndrome
  • Certain gene mutations that cause Lynch Syndrome, which is associated with colon, uterine, and ovarian cancer

For women who may fall into the high-risk category, genetic counseling (consultation with a genetics expert) is critical. The process can provide people with an individualized risk assessment for developing disease based on personal and family medical history, determination of which genetic tests might be appropriate and who is the best person in the family to undergo testing first, genetic test results, and other factors that personally impact risk. In women who have already been diagnosed with ovarian cancer, 14% to 20% will carry one of the inherited mutations above. For this reason, every woman who is diagnosed with ovarian cancer meets expert guidelines for referral to a genetics expert.

Women who fall into the high-risk category for ovarian cancer have different screening and risk-management options than women in the general population. Experts can explain the benefits and limitations of each option, which include the following:

  • Ovarian screening with CA-125 blood tests and transvaginal ultrasounds. Although neither sensitive nor highly accurate, these procedures offer benefits for high-risk women that may outweigh the risk.
  • Oral contraceptives can significantly lower the risk for ovarian cancer for all women, regardless of their risk status.
  • Removing the ovaries and fallopian tubes greatly reduces (but does not eliminate) ovarian cancer risk. This procedure has been shown to improve survival in women who carry an inherited mutation.

Although the benefits of screening for asymptomatic average-risk women do not outweigh the risks, women who fall into this category should be aware of any changes in their health that might be signs of ovarian cancer. These symptoms include:

  • bloating
  • pelvic or abdominal pain
  • difficulty eating or feeling full quickly
  • urinary symptoms (urgency or frequency)

Women who have these symptoms almost daily for more than a few weeks should see their doctor, preferably a gynecologist.

Risk assessment and management for hereditary ovarian cancer is covered in great detail in our book Confronting Hereditary Breast and Ovarian Cancer and on the FORCE website.

Genetic counseling is covered as a preventive service under the Affordable Care Act. To find a genetics specialist by phone, contact InformedDNA. To find a genetics specialist in your local area by zip code search, visit http://www.nsgc.org.

Sue Friedman, D.V.M., is the founder and executive director of Facing Our Risk of Cancer Empowered. Her numerous articles on hereditary cancer have appeared in Oncology Times, CURE, Gene Watch, and the Boston Globe, among others. Rebecca Sutphen, M.D., is a nationally recognized clinical and research expert in hereditary cancer, professor of genetics at the University of South Florida, and chief medical officer of Informed Medical Decisions. Kathy Steligo is a freelance writer specializing in business and health topics and author of The Breast Reconstruction Guidebook, the third edition of which will be out in October.

The information provided in this blog post is not meant to substitute for medical advice or care provided by a physician, and testing and treatment should not be based solely on its contents. Instead, treatment must be developed in a dialogue between the individual and his or her physician. This post has been written to help with that dialogue. The services of a competent medical professional should be obtained whenever medical advice is needed.

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Filed under Cancer, Consumer Health, Genetics, Health and Medicine, Public Health, Women's Health

by | March 2, 2012 · 2:06 pm

Recent titles, rave reviews, and other news

February was a banner month for the JHU Press. We were invited into Amish homes, celebrated International Polar Bears Day, and launched a video series that stars the “academic verve” of our journal editors (more on that below). Here’s some more of what we’ve been up to in Charm City lately. Let’s hope March is just as exciting!

Journals news

Recently released books

Rave reviews

Publishers Weekly recently saluted Ronald P. Formisano’s soon-to-be-published The Tea Party “for providing even-handed perspective on and clarifying misconceptions about America’s recent political phenomenon,” while The Huffington Post hailed award-winning author Richard Burgin as “one of our best short story writers.” 

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Filed under African American Studies, Amish, Animals, Cancer, Coming Soon, Consumer Health, Digital Content, Film / Documentary, Genetics, Higher Education, In Other Words, Journals, Literature, Poetry

by | February 21, 2012 · 8:00 am

The Doctor Is In: Why doctors need better guidelines for breast cancer surgery

The Doctor Is In is an occasional series where JHU Press authors discuss the latest developments and news in health and medicine.

Guest post by Kathy Steligo

As a woman who has had lumpectomy on both breasts, I thank my lucky stars for that simple yet effective operation. But a new study published recently in the Journal of the American Medical Association brings up a worrisome issue: medical guidelines dictate when lumpectomy should be an option, but don’t describe how much tissue beyond the tumor should be removed.

Surgeons remove a segment of tissue around the tumor in an effort to get “clear margins,” without any cancer cells. Without medical guidelines dictating how much is too little and how much is too much, surgeons decide on the amount of tissue to be removed based on their own insight and intuition. This study showed, however, that in some cases, those qualities fall short and the patient pays the price.

This research shows that some women who need more surgery aren’t getting it, while others are having unneeded surgeries. . . . It is an indication of the need for some level of surgical guidelines regarding lumpectomy.

Reviewing the records of 2,206 lumpectomy patients at four hospitals in different areas of the country, researchers found that about 23 percent of the women had a repeat lumpectomy, even though about half of them had clear pathology reports. What patient benefit did those second surgeries serve? Even more troubling, 14 percent of the women studied were found to have residual breast cancer cells after lumpectomy, yet they did not return to the OR—the reasons for this weren’t identified. The rates of repeat surgery also varied wildly among surgeons, ranging from zero to more than 70 percent. What would validate one surgeon having do-overs on almost three-quarters of his or her patients?

Every breast cancer case is different, so it’s understandable that lumpectomies might not be performed exactly the same way for all women. But the study results underscore one fact: presented with the same lumpectomy, surgeons have differing opinions of how much tissue should be removed “to be safe.” Some like to err on the side of caution, removing a wide margin of tissue, while others take a more conservative approach, trying to remove cancerous tissue while preserving the shape and volume of the breast as much as possible. Most importantly, this research shows that some women who need more surgery aren’t getting it, while others are having unneeded surgeries.

It’s not clear whether the findings of this one study would hold up if all lumpectomies were subjected to the same scrutiny, but it is an indication of the need for some level of surgical guidelines regarding lumpectomy. Hopefully this will motivate surgeons and the appropriate health officials to do what is needed—recognize that each patient case is different, but establish guidelines that help surgeons become more effective and ensure that fewer women experience the frustration and anguish of a repeat lumpectomy.

In the meantime, what should women do if they’re facing a lumpectomy? Be your own advocate: ask questions, research your options, and get a second opinion before any surgery. Insurance usually pays for getting a second opinion; it takes just a bit of time and will be well worth the effort.

Kathy Steligo is co-author of Confronting Hereditary Breast and Ovarian Cancer, published by JHU Press. She is also the author of The Breast Reconstruction Guidebook, the third edition of which is forthcoming from JHU Press.

The information provided in this blog post is not meant to substitute for medical advice or care provided by a physician, and testing and treatment should not be based solely on its contents. Instead, treatment must be developed in a dialogue between the individual and his or her physician. This post has been written to help with that dialogue. The services of a competent medical professional should be obtained whenever medical advice is needed.

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by | February 3, 2012 · 12:06 pm

The Politics of Defunding Women’s Health

Guest post by Alexandra M. Lord

Recently, the Susan G. Komen for the Cure foundation pulled its financial support of breast cancer screening and education programs run by Planned Parenthood.

The reasons for pulling their support?

According to a spokesperson for the Komen Foundation, the organization has adopted a new rule that prohibits grants to organizations under investigation by local, state, or federal authorities. Planned Parenthood is the only organization funded by the Komen Foundation that is targeted by this new rule. Just before the new rule was announced, the staunchly anti-abortion Republican congressman Cliff Stearns had announced that he would be launching an investigation of Planned Parenthood, and the Komen Foundation had hired a new vice president for public policy, Karen Handel, a former politician who has been hostile to Planned Parenthood and contraception in general.

As a historian, I read these kinds of stories and feel frustrated. Frustrated because this is a tactic that has been successfully used by the Far Right in the past. Under the Bush Administration, a similar tactic was used to undermine organizations promoting sex education. Aggressive—and multiple—audits were conducted of organizations promoting sex education. The audits, which consistently found nothing wrong, were clearly used to intimidate and disrupt these organizations.

The tactic taken by the Komen Foundation is clearly in the same vein.

But I also feel deeply frustrated when I read these stories because I think many of the people who call for an end to contraception, who attack sex education, and who dismiss the idea that abortion is ever necessary completely lack any understanding of the past.

The founding of Planned Parenthood (which occurred at the same time the federal government began to provide sex education) was a direct response to some very harsh realities. Planned Parenthood founder Margaret Sanger’s own family is a case in point. Sanger’s mother had 18 pregnancies, bore 11 children, and died at the age of 40. This was not a unique story in this period. Many women confronted a lifetime of unwanted pregnancies as well a range of health-related problems which stemmed from almost constant pregnancies and complete ignorance about sexually transmitted diseases.

Lacking information about birth control and fearing that yet another pregnancy would destroy their family, many women risked their lives by turning, again and again, to back street abortionists.

The Komen Foundation’s decision—a decision which opens the door for any politician to ensure that any organization can be defunded simply by launching an investigation—seems to be aimed at turning back the clock 100 years. Contrary to what opponents of Planned Parenthood say, a world which denies women information about birth control, access to safe abortions, and preventive medical care is not and never was pro-life.  We need only to look at the past to recognize this.

Update: 1:50 am EST 2/3/12

As the recent reversal of Komen’s decision demonstrates, most Americans are savvy enough to recognize this.

Alexandra M. Lord, a former historian with the U.S. Public Health Service, is author of Condom Nation: The U.S. Government’s Sex Education Campaign from World War I to the Internet, published by JHU Press.

(The views expressed in this guest post belong to the author and in no way do they reflect the official opinion of the Johns Hopkins University Press.)

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by | January 18, 2012 · 8:00 am

Personalized medicine: Are we there yet?

Guest post by Sue Friedman, DVM 

Recommendations in preventive care and screenings have long been based on average risks for the general population. Heart disease, for example, is on average a later-onset disease, so most children and young adults are not screened for it. The same is true for cancer.

One look around any crowded room tells us that we are not all the same. Many factors, including our genetic makeup, help determine how we look, how we behave, and even when and what diseases we are likely and unlikely to develop.

Scientists know from studying thousands of people that most women who are diagnosed with breast or ovarian cancer will be postmenopausal. Averages aside, many of us know of people who were diagnosed with heart disease or cancer much earlier in life, too often with devastating outcomes. When breast cancer strikes at a young age, it is often more aggressive and already advanced before it is detected. Yet many of us also know people who lived their entire life to old age without developing either cancer or heart disease. In the past, recommendations for health screenings such as mammography and colonoscopy were the same for everyone, based on observations of the general population. 

One look around any crowded room tells us that we are not all the same. Many factors, including our genetic makeup, help determine how we look, how we behave, and even when and what diseases we are likely and unlikely to develop. What makes us individuals is due in part to our genes. Other than identical twins, no two people have the same genetic makeup; we are unique. How then can science take into account and reconcile information about average risk for disease and, at the same time, factor in our individual makeup to assure the best health outcome for all people? This is the realm of personalized medicine. 

As science and medicine advance, we are seeing more personalized medicine incorporated into health care. We are entering an age where genetic tests can help us learn more about our individual risk for disease and age of onset, and provide better options for detecting, treating more effectively, and even preventing disease. Research has advanced to a point where understanding risk and intervening has been shown to save lives. Expert panels are now developing screening and prevention recommendations that take into account family history of disease and even a person’s genetic test results.

What if you knew that you were very likely to get breast cancer in your lifetime? The average woman’s lifetime risk of breast cancer is about 12.5%, and most of that risk occurs after age 50. What if your risk was more like 60% and the cancer was more likely to occur when you were younger? Would you make different decisions about breast screening? What if you learned your risk for ovarian cancer was as high as 50% and that removing your ovaries after you were done having children could lower that risk drastically and improve your chances of living to old age? If you knew that being active and fit could influence your risk for cancer later in life, would you be more likely to exercise? How might you use knowledge about your risk for cancer to improve how you live today?  

Risk is complicated, and it isn’t yet an exact science. Although genetic tests are available to help determine your risk for disease, there is more to disease prediction and prevention than just a single test. Genetics experts are the specialists who understand and know the latest about genetic tests and research and how to apply the complex information to personalize your care.

Fortunately, you don’t have to navigate this risk alone. Facing Our Risk of Cancer Empowered (FORCE), the national nonprofit organization devoted to people facing hereditary cancer risk, has information, tools, and resources to help people understand their risk for cancer and make the best health care decisions. The new book that I co-authored with Rebecca Sutphen, M.D., and Kathy Steligo, Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your Options, Change Your Destiny, provides this information in a concise, understandable, and easily accessible format. With the right guidance, knowing your risk for cancer and the options available to manage that risk can be lifesaving information. For those with cancer, learning if the cancer was hereditary can affect treatment choices and your chances of never being diagnosed again.

Sue Friedman, DVM, is the founder and executive director of Facing Our Risk of Cancer Empowered (FORCE). Her numerous articles on hereditary cancer have appeared in Oncology Times, CURE, Gene Watch, and the Boston Globe, among others. Together with Rebecca Sutphen, M.D. and Kathy Steligo, she wrote Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your Options, Change Your Destiny, which will be available January 20 from the JHU Press.

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