"CANCER BYTES" - Real Life. Real People. Cancer Happens

Please visit Cancer Bytes, featuring interviews with people touched by cancer. We hope that by listening to stories from cancer survivors we can help you through your process of healing and coping with the disease. Hosted by Ellen Matloff, Director of Cancer Genetic Counseling at Yale Cancer Center, Cancer Bytes shares real life stories of survival.

Click on the above light blue link to listen to CANCER BYTES!

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Warning! Genetic Testing Company Discourages Doctors From Referring to Genetics Experts: Get the Facts

Warning! Genetic Testing Company Discourages Doctors From Referring to Genetics Experts: Get the Facts

Commercial genetic testing companies are aggressively targeting doctor’s offices and encouraging them to order testing without counseling from a genetics expert. The testing companies argue that their sales forces are “providing doctors with the tools they need to do counseling in-house”(1). However, few doctors have extensive training in genetics, and are thus limited in their ability to interpret complex test results. Few clinicians have the infrastructure in their office to provide long-term follow-up for patients who carry a mutation, coordination of testing for family members, and methods of re-contacting patients when new laboratory techniques and additional testing become available. In addition, the testing companies are not educating doctors about other hereditary cancer syndromes and other genetic tests that may be offered by other testing companies, and, therefore, may be providing unbalanced and biased information to physicians.

Testing companies are also claiming that there are too few genetic counselors to provide genetic counseling services; thus, doctors should provide this service directly to their patients. They also argue that referring to an outside genetic counseling center delays testing and cancer treatment. However, there are many genetic counselors in the Northeast, including Connecticut, and accommodations are made for urgent cases so as to prevent delay in treatment. There are also options for accessing genetic counseling by certified providers through phone- and/or internet-based telemedicine services.

These marketing tools have lead to an increasing number of claims nationwide that patients are receiving “either too little or the wrong information about their genetic risk of developing cancer from companies marketing the tests” says, Sue Friedman, director of Facing Our Risk of Cancer Empowered (FORCE)(2). This has also led, in some cases, to unnecessary surgery, anxiety, and misuse of insurance money (Yale Cancer Genetic Counseling, unpublished data).

It is recommended that anyone having an adverse effect as a result of marketing genetic testing to physicians report it to the FDA(3). To do so, please go to https://www.accessdata.fda.gov/scripts/medwatch/ and complete the FDA MedWatch online voluntary reporting form. If you would like to report an adverse event but remain anonymous, please contact FORCE (http://www.facingourrisk.org). If you have questions about what to report or how to fill out the form, please contact Sharon Kapsch (sharon.kapsch@fda.hhs.gov) at the FDA Center for Devices and Radiological Health.

We recommend that all patients considering genetic testing be offered genetic counseling by a genetics expert prior to having their blood drawn for testing. To find a cancer genetic counselor in your area go to www.nsgc.org.

References:

1. Myriad Avoids Genetic Counseling ‘Bottleneck” for BRCA Testing By Helping Docs Do It Themselves. Pharmacogenomics Reporter, September 23, 2009.

2. More Patients Experience Inadequate Genetic Testing, Advocacy Official Says. Pharmacogenomics Reporter, January 14, 2009.

3. Patient Group Urges HHS Panel to Push for Oversight of DX Firm’s Genetic Test Marketing Practices. Pharmacogenomics Reporter, October 13, 2009. Read more!

Gene Patent Lawsuit Moves On!

A US district court has denied a motion by the US Patent and Trademark Office, Myriad Genetics, and the University of Utah Research Foundation to dismiss a lawsuit brought against them by the ACLU. The suit challenges the legality and constitutionality of patenting the BRCA genes, associated with hereditary breast and ovarian cancer syndrome. Further proceedings will begin in December.

Please follow the above light blue link to sign your support for the ACLU! Read more!

Women Encouraged to Continue Getting Mammograms

American Cancer Society Stands by its Screening Guidelines; Women Encouraged to Continue Getting Mammograms. Please follow the link below to read the full statement from Otis W. Brawley, M.D., Chief Medical Officer, American Cancer Society in Response to New York Times article on Cancer Screening. Read more!

Patient Group Urges HHS Panel to Push for Oversight of Genetic Test Marketing Practices

Lisa Schlager, an outreach coordinator at Facing Our Risk of Cancer Empowered, spoke with groups in Washington DC last week and urged them to consider "federal action to monitor, regulate, and track adverse events resulting from marketing from laboratories to consumers and healthcare professionals."

Please click on the above light blue link to read the full article. Read more!

October 20th - Film Screening and Discussion

Here is the beginning of my post. And here is the rest of it. Read more!

Mark Your Calendars: Breast Cancer, Patenting Human Genes & Your Civil Liberties

Mark your calendars for the upcoming event "Breast Cancer, Patenting Human Genes & Your Civil Liberties." See a screening of the famous documentary "In the Family" followed by a panel discussion with filmmaker Joanna Rudnick, the ACLU, and special guests (including our director, Ellen Matloff, MS). Admission is free but space is limited. RSVP to ereshefsky@aclu.org

Time:6:00PM

Date: Tuesday, October 20th

Location: Tribeca Cinemas 54, Varick Street, New York, NY Read more!

Large National Groups Support ACLU's Challenge to the Patents on the Breast and Ovarian Cancer Genes

Three more major organizations including the American Medical Association, the March of Dimes and the American Society for Human Genetics filed briefs in support of ACLU's suit to declare the patents on the breast and ovarian cancer genes unconstitutional. Read more!

Pam’s Pink Posse

Pam’s Pink Posse is hitting the pavement again! Last year, my friends and family formed a team and walked in support of my battle against breast cancer in the Terri Brodeur Breast Cancer Foundation Walk across Southeastern Connecticut. The mission for this walk was to raise funds to cure breast cancer and they raised over $5,000. On October 3, 2009 I will be joining my team and hundreds of walkers for the annual 26.2 mile walk.

The Terri Brodeur Breast Cancer Foundation (TBBCF) is a local, non-profit organization dedicated to fighting this devastating disease. In 2005 Norma Logan and Sandy Maniscalco led a group of walkers in raising $200,000 for an internationally renowned breast cancer foundation. But afterwards, they found out that 40% of all money raised went to overhead. Of the $200,000 raised, $80,000 never made it to critical research programs. TBBCF is different from other foundations in that 100% of all fundraising dollars go directly to breast cancer research. How is this possible? TBBCF is run by experienced volunteers and depends on sponsorship donations to cover event and administrative costs. (Log on to www.TerriBrodeurBreastCancerFoundation.org to find out more about the organization.)

Like many of you, several of the TBBCF board members have shown me a great deal of support over the past year and this organization has become near and dear to me. I thank all of you for your support and hope that you will continue to support me in helping to find a cure for breast cancer.

If you are interested in donating, I have enclosed a donation form for you. You can either donate directly to me, mail a check to TBBCF with the attached form, or go on line at: www.TerriBrodeurBreastCancerFoundation.org, Locate “Sponsor a Walker”, type in “Pamela Watt” and click “Search”. Once you find my name, click “Donate” (to the right of my name).

Thank you for your consideration. Remember, 100% of your donation in support of my walk will fund breast cancer research. Any amount is greatly appreciated. Thank you!

Thanks!

Pamela Read more!

Hereditary Diffuse Gastric Cancer (HDGC): A Network for Gastric Cancer Patients, Survivors and Families

Be Strong Hearted

A Network for Gastric Cancer Patients, Survivors and Families

Chelcun Family Fund for Stomach Cancer Research

Hereditary Diffuse Gastric Cancer (HDGC) Read more!

Bright Pink

Lindsay Avner is the founder of "Bright Pink," an organization to educate young women about breast cancer and preventive health. Click on the above light blue link to check out a recent CNN article that features Ms. Avner and interviews with other young women. Read more!

PARP inhibitors show promise in treating BRCA related cancers

For Matt Lauer's coverage of this topic, please visit www.msnbc.msn.com and search for "PARP." Read more!

Jessica Gioia shares her discovery that she and the other women in her family carry a mutation in the BRCA1 gene.

To read the rest of her story, published in the Hartford Courant, please click on the above light blue link or visit: www.courant.com/features/hc-cancervideo.art0jun17,0,6344589.story

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Do you think companies should be able to patent genes?

Cast your vote by clicking on the above light blue link. Read more!

"In the Family" movie clip about Myriad's patent on BRCA1 and BRCA2

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June 3, 2009 is Cancer Survivors Day

Each year we welcome cancer survivors and their families to commemorate Cancer Survivors Day with us and to learn more about the survivorship resources available at Yale Cancer Center. Many patients find this day extra special when they see their physicians and nurses celebrating with them. Please click on the above light blue link to learn more! Read more!

Patent Suit Challenges Limits over Cancer Test

A genetic test to show predisposition for breast and ovarian cancer has likely saved the lives of thousands of women across the country.

But because of a group of unusual patents obtained by Salt Lake City-based Myriad Genetics Inc., the test for the BRCA1 and BRCA2 genes is only available through that company -- potentially limiting access to any number of patients who may not have the insurance or the cash to be able to afford the $3,000 test.

On Tuesday, a group of physicians, researchers and patients filed a potentially ground-breaking lawsuit against Myriad in federal court in New York, challenging not only the company, but the U.S. Patent and Trademark Office, as well.

The lawsuit, filed by the American Civil Liberties Union, brings to light not only issues over patent law (Can a company patent something that is naturally occurring?) but medical ethics, as well (Should a company restrict access to a valuable diagnostic tool for profit?)

The plaintiffs allege that Myriad's patents prohibit any other lab from doing routine screening for the genes in question, and have therefore created for Myriad a monopoly on the technology.

They cite as an example of Myriad's diligence in protecting the patents that the company has sent cease and desist letters to labs at the University of Pennsylvania to stop work occurring there and has enforced the patents at least nine times.

But Richard Marsh, general counsel for Myriad, said that the only enforcement actions that have occurred were for labs that were doing commercial BRCA1 and BRCA2 testing to generate revenue and not for purely scientific research.

"I think we are being falsely accused of stifling the potential for research," Mr. Marsh said.

Further, he believes that the handful of patients named in the lawsuit who have had difficulty obtaining the testing are an exception.

"It's an important exception for these folks, and we're obviously sensitive to that," he said. "If that's the case, get in touch with the company, and we'll make [the test] happen."

The most important element of the lawsuit, Mr. Marsh said, is the question of whether genes can be patented.

Citing a 1980 Supreme Court decision, he said the answer is clearly yes.

Patients are not even able to get a second opinion on BRCA1 and BRCA2 results from Myriad because no other lab is allowed to perform the test.

"The limitations they have placed on ordering this test are indescribable," said Ellen Matloff, a genetic counselor at a leading cancer center in Connecticut.

Women with a significant mutation of the BRCA1 or BRCA2 genes have an approximate 40 to 85 percent lifetime risk of developing breast cancer, the lawsuit said.

"For those of us in the field who see how much good this test can do, having our hands tied and not being able to order the test is unbelievable," said Ms. Matloff.

Saralouis Reis, 56, of Squirrel Hill, had the BRCA screening about six years ago.

Her younger sister developed breast cancer at age 30 and underwent a single mastectomy. About 12 years later, she went back to her oncologist for prophylactic surgery.

When the doctor inquired about the woman's ancestry, she said she was Jewish, of Eastern European descent.

The doctor then recommended BRCA screening, because mutations are more common in Ashkenazi Jews. After the blood test -- it can also be administered through a cheek swab -- was done, it showed that Ms. Reis' sister did have the mutation.

Then she and her older sister had the test, as well.

Her older sister's test was positive, and her doctor recommended having her ovaries removed. When the surgery was performed, doctors found she already had Stage-1 ovarian cancer. She continues on a maintenance course of chemotherapy.

Ms. Reis' test was positive, too. She had a bilateral mastectomy 51/2 years ago.

"My little sister really saved our lives by having the test," she said.

With her family's history, Ms. Reis didn't have any trouble with insurance paying for the cost of the test.

"I would like the test to be available to as many women -- at a reasonable price -- as possible, because it's important," she said.

When Ms. Matloff first began ordering the test in the late 1990s, it cost just $1,600. Now, she said, the cost has more than doubled.

"The improvements in technology should have driven that cost down significantly, and certainly not up," she said

The plaintiffs contend that the government's policy of allowing the patenting of products of nature violates the U.S. Constitution and patent statute.

That, however, should be addressed by Congress, and not through a lawsuit, said Alan Meisel, the director of the Center for Bioethics and Health Law at the University of Pittsburgh.

Further, he said, if the patent system didn't exist, then the test may have never been developed because there would not have been a financial incentive for private industry.

The other option, he added, is to have universal access to health care, so that the BRCA1 and BRCA2 screening is covered for everyone.

He did note, though, that his sympathies lie with the plaintiffs.

"People's lives are at stake. They ought to be willing to be more humane than this."

Thursday, May 14, 2009 By Paula Reed Ward, Pittsburgh Post-Gazette Read more!

Breaking News! ACLU files suit challenging the patent of BRCA1 and BRCA2

Click the above light blue link to be directed to the NYTimes article and please watch the video below.

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CNN - Breast Cancer Gene Patent Lawsuit

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New Screening Updates

We recently reviewed and updated the surveillance recommendations for individuals who have Familial Adenomatous Polyposis (FAP), MYH-Associated Polyposis (MAP) and HNPCC/Lynch Syndrome (MLH1, MSH2, MSH6 mutations). Please contact our program to schedule an appointment to discuss these updates! Read more!

Bone marrow transplant need to save the life of 26 year-old Natash Collins, a Yale medical student

Natasha Collins is a 26 year-old Yale medical student who is batting leukemia for the second time. She needs a bone marrow transplant to save her life, but does not have a match. Natasha is half African American and half Caucasian, making her a molecular minority because her bone marrow is difficult to match. A match for Natasha is likely to also be of mixed heritage Minority and mixed heritage donors are underrepresented in the Registry. Natasha grew up in Syracuse, NY, and in addition to being a stellar student, loving daughter, and generous friend, Natasha loves to cook, knit, travel, and eat carrot cake. She has a bright future as a doctor and needs your help to make this dream come true. Please consider joining the Be the Match Registry. Free registration is available through April 30th at http://www.marrow.org with code BK041309. You can also visit the group “Become Natasha's Hero” on Facebook at http://www.facebook.com/group.php?gid=65568844747&ref=nf. . Read more!

Paul Ridley celebrates the completion of his solo rowing expedition across the Atlantic on March 29. His 88-day trip raised $100,000.

Row for Hope is proud to partner with Yale Cancer Center to fund cutting-edge research that is dedicated to bringing tomorrow's cancer treatments and cures to patients today. The group was founded by Paul and Joy Ridley after losing their mother to skin cancer in 2001. Row for Hope is public charity focused on funding the ongoing fight for progress in the field of cancer research. Please click on the above light blue link to read more about Paul's journey or visit www.rowforhope.com to make a donation.

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Removing the Doubt: One Woman's Choice for Bilateral Mastectomy

Thirty-six year old Karen Aulner has never been diagnosed of cancer. However, she has watched her sister fight the disease since 2000. So when Ms. Aulner tested positive for a BRCA gene mutation in 2004 she decided to have a bilateral mastectomy. Please keep in mind that this is just one of the options available to women who learn they carry a BRCA mutation. For more information about options for surveillance and risk reduction please speak with a genetic counselor and your physicians.

To read more about Ms. Aulner’s story please click on the above light blue link or visit www.washingtonpost.com/wp-dyn/content/article/2009/04/06/AR2009040602380.html Read more!

Unraveling the Next Chapter for Female BRCA carriers: Sexual Development, Body Image and Sexual Functioning

Clinical genetic testing for BRCA1 and BRCA2 has become available in the past 15 years, and it has been established that female BRCA carriers have a high lifetime risk to develop both breast and ovarian cancer. Predisposition testing makes it possible to predict risk in families and to tailor medical management accordingly. In addition to close surveillance, prophylactic mastectomy and oophorectomy are primary risk reduction strategies offered to BRCA carriers. Although the emphasis of research thus far has been on the efficacy of surveillance and risk reduction strategies, it has become clear that genetic testing and the resulting medical decisions around risk reduction lead to a unique set of emotional, physical, and sexual issues for female BRCA carriers and their children.

Matloff ET. Cancer J. 2009 Jan-Feb;15(1):15-8. Read more!

Promising Test Flags BRCA Mutations in Populations of Hispanic Women

In a recent small pilot study of 23 Hispanic women, Dr. Jeffrey Weitzel and colleagues found several specific mutations with the BRCA1 and BRCA2 genes (associated with hereditary breast and ovarian cancer) that appear to be more common among Hispanics. Although the sample population was small, these results are promising and may make genetic testing for hereditary breast and ovarian cancer syndrome more affordable for individuals who are uninsured or underinsured. The efforts to offer targeted, more affordable testing are particularly important because Myriad Genetic Laboratories hold and enforce the patent rights for BRCA1 and BRCA2 gene testing; therefore, they control the cost of testing which has risen from $1,600 in 1998 to more than $3,100 per patient in 2009.

To read more about this article please click on the above light blue link.

Voelker R. JAMA. 2009;301(13):1326-1327. Read more!

Congresswoman Carries a BRCA2 mutation

Representative Debbie Wasserman Schultz recently announced that she was diagnosed with breast cancer last year and learned that she carries a BRCA2 mutation. She underwent a prophylactic bilateral mastectomy and oophorectomy to greatly reduce the risk of a second primary breast cancer and a diagnosis of ovarian cancer.

During her announcement she also proposed the EARLY Act, a national education campaign to increase awareness of breast cancer in younger women, 15-40. The bill would take into account the heightened risk some ethnic groups face – groups like Ashkenazi Jews, who are at an increased risk of carrying a mutation in the BRCA1 or BRCA2 gene. The legislation also provides assistance to organizations to support young women diagnosed with breast cancer and help them get the assistance they need, including social and psychological support, fertility counseling and recurrence prevention training.

To watch her interview with Robin Roberts on Good Morning America, please click on the above light blue link or visit abcnews.go.com/video/playerIndex?id=7148603

The New York Times also featured her in an article. Please visit http://thecaucus.blogs.nytimes.com/2009/03/23/fla-congresswoman-reveals-cancer-surgeries/?scp=1&sq=Wasserman%20Schultz%20&st=cse Read more!

March is Colon Cancer Awareness Month

Colon cancer affects ~150,000 individuals every year and is equally common in men and women. The disease, however, is largely preventable with regular screening and is treatable with early detection. The American Society of Colon and Rectal Surgeons recommends regular colorectal cancer screenings for men and women beginning at age 50. However, if you have a family history of colon cancer, you may wish to discuss early screening with your physicians. In general, individuals with a family history of colon cancer begin screening ~10 years earlier than the earliest diagnosis in their family. For more information about Colon Cancer Awareness Month please visit www.screen4coloncancer.org

Colon cancer can also be hereditary in some families, although the majority of cancers are not hereditary. We recommend that individuals consider genetic counseling if they have a personal and/or family history of any of the following:

1. Colon or endometrial cancer diagnosed before the age of 50.

2. Multiple relatives on the same side of the family with the same or related cancers (e.g. colon/uterine/ovarian)

3. More than one HNPCC cancer diagnosis in a single individual (e.g. colon and uterine, synchronous/metachronous colon cancers, colon and ovarian).

4. Individuals with greater than 15 gastrointestinal polyps, multiple polyposis or greater than 5 hamartomatous polyps.

5. Even one sebaceous carcinoma or adenoma.

6. Colon or endometrial cancer that has an abnormal MSI or IHC; or

7. Known genetic mutation in the family (HNPCC, FAP, etc.).

To learn more about genetic counseling and testing please visit our program web site by clicking on the above light blue link or by visiting www.yalecancercenter.org/genetics/. You may also wish to visit the National Society of Genetic Counselors website at nsgc.org to find a counselor closer to where you live. Read more!

Row for Hope

On January 1st at 6 AM, Paul Ridley began his 2950-mile, solo, unsupported, trans-Atlantic journey rowing from the Canary Islands to Antigua with the goal of raising $500,000 for Yale Cancer Center. He is now on his 71st day of rowing and hopes to reach Antigua at the end of the month. Visit Paul's blog by clicking on the above light blue link or by visiting solorow.blogspot.com. Additional information about his journey can also be found at yalecancercenter.org/news/2008stories/row.html or on Yale Cancer Center Answers at yalecancercenter.org/answers/archives.html (Airdate - November 23rd) Read more!

Preimplantation Genetic Technology

Recently, a couple in London used preimplantation genetic diagnosis (PGD) to ensure that the husband's BRCA1 mutation was not passed on to their child. To view the full story, please click on the above light blue link. Read more!

A Video Story of a 'Previvor'

Upon learning her high risk for developing cancer, a healthy 33-year old Deborah Lindner considered preventive mastectomy. To view this video, please click on the above light blue link. Read more!