Hereditary Diffuse Gastric Cancer

The Chelcun Family has created this incredible resource to help spread awareness about hereditary diffuse gastric cancer (HDGC). Based on their risks to develop stomach cancer, several family members pursued prophylactic total gastrectomies (removal of their stomachs) – and in each case, pathology revealed the presence of undetected cancer. Learn more about their story and HDGC at their website by clicking on the above light blue link.

Read more!

U.S. Says Genes Should Not Be Eligible for Patents

The ruling that the patents on the BRCA1 and BRCA2 genes were invalid prompted the government to re-evaluate its policy. After review, the government said on Friday that human and other genes should not be eligible for patents because they are part of nature. The new position could have a huge impact on medicine... and on the biotechnology industry!

See the above light blue link for more details Read more!

Society of Gynecologic Oncologists PreOvar Statement

Many of you have inquired about having the PreOvar test to predict risk for ovarian cancer. While we are hopeful that this, and other, tests will be clinically validated in the near future, they have not been to this point. As you will see in this link, the Society of Gynecologic Oncologists believes that the clinical value of the PreOvar test remains unknown until further validation studies are performed. Therefore, insufficient data exist presently to recommend this test as a tool for better defining ovarian cancer risk.

To access the link, please click on the above light blue link. Read more!

Errors in Delivery of Cancer Genetics Services: Implications for Practice

The Grand Rounds video presentation of our publication "Errors in Delivery of Cancer Genetics Services: Implications for Practice" is now available.

Please click on the above light blue to link to be redirected to: http://yalecancercenter.org/education/grand-rounds.html#videotop

Scroll down and select:

September 14, 2010

Ellen Matloff, MS

Errors in Delivery of Cancer Genetics Services: Implications for Practice

Read more!

It's National Hereditary Breast and Ovarian Cancer Week!

For Immediate Release

September 16, 2010

National Hereditary Breast and Ovarian Cancer Week Passes House Unanimously FORCE Applauds Effort to Raise Awareness of Hereditary Cancers

WASHINGTON, DC—This week, in a unanimous show of support, the House of Representatives voted to pass a resolution designating the first-ever National Hereditary Breast and Ovarian Cancer (HBOC) Week and National Previvor Day.

Facing Our Risk of Cancer Empowered (FORCE) worked with Congresswoman Debbie Wasserman Schultz (D-FL) to draft the measure and conducted an extensive advocacy campaign to sign the 93 cosponsors for H Res 1522.

National HBOC Week 2010 will take place the last week of September (September 26 – October 2, 2010) to raise awareness of hereditary breast and ovarian cancer. National Previvor Day, the last Wednesday of September (September 29, 2010), will call attention to the many individuals who carry an inherited predisposition to cancer but have not developed the disease.

“Three-quarters of a million Americans are estimated to carry an inherited gene mutation that causes a strong predisposition to breast and ovarian cancer,” explained Wasserman Schultz. “These hereditary risk factors affect thousands of American ‘previvors’—survivors of a predisposition to cancer.”

Certain genetic mutations significantly increase risk of breast and ovarian cancer. “BRCA1 and BRCA2 mutations place a woman’s lifetime breast cancer risk as high as 85% and ovarian cancer risk as high as 50%, both significantly greater than that of the general population. Families with an inherited BRCA mutation have the highest known risk for both cancers, and multiple family members are often affected. This is a community that faces a disproportionate cancer burden," said FORCE Executive Director Sue Friedman. “Knowledge of a genetic predisposition to cancer, available risk management and treatment options will save lives. Through this resolution we also hope to raise awareness of the unmet need for more research and resources for these families.”

Knowing one’s family health history is critical. Cancers tend to be more aggressive in women with BRCA mutations, and occur at a younger age, when individuals are less likely to undergo routine cancer screening. Cancer screening recommendations for high-risk populations differ from those for the general public, and more aggressive surveillance is needed. Thus, awareness of an inherited predisposition to cancer may lead to earlier detection and preventive strategies that ultimately reduce the chance of dying from cancer.

FORCE has special HBOC Week and Previvor Day events taking place in numerous locations around the country including Washington, DC, New York, Cincinnati, Chicago, Detroit and San Francisco.

# # #

FORCE: Facing Our Risk of Cancer Empowered (www.facingourrisk.org) is a national nonprofit organization devoted to improving the lives of individuals and families affected by hereditary breast and ovarian cancer. FORCE was founded in 1999 to assure that no one would ever have to face hereditary breast or ovarian cancer alone. Through our programs, FORCE promotes research of hereditary cancer; educates people about cancer risk, prevention, detection and treatment; and advocates for resources and legislation to address the needs of our community. Read more!

Who Owns Your Genes? It's not you. And that matters.

Please visit the above light blue link for the full article published in Self Magazine this month about how patents are impacting BRCA testing.

Her is an excerpt from the article:

Myriad's monopoly on BRCA has also prevented genetics counselors and other clinicians from giving patients valuable information about their genes that Myriad couldn't yet provide. In 2006, researchers at the University of Washington at Seattle showed that Myriad's BRCA analysis was missing about 12 percent of mutations in breast cancer patients with a strong family history of the disease. "We could test for the missing mutations at our lab, so I contacted Myriad and told them we'd like to offer that to patients," says Ellen Matloff, director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut. "They said no, that they were going to offer the test once they'd completed their research. More than a year passed before they started offering it, now called the BRAC Analysis Rearrangement Test [BART]. We had to sit here that whole time knowing some patients had mutations that were being missed.” Read more!

FORCE survey

FORCE is conducting a pilot survey to better understand the needs of men with BRCA mutations or with cancer in the family. Male and female BRCA carriers are eligible to participate in this short online survey. If you are interested, please click on the light blue link above to access the survey. Read more!

Patents on Human Genes- A Patients Perspective

Patents on Human Genes- A Patients Perspective Read more!

Errors in Delivery of Cancer Genetics Services

Errors in Delivery of Cancer Genetics Services Read more!

Libby's Bilateral Mastectomy Experience

I was 55 years old when I learned that I carry a BRCA2 gene mutation. Being over 40, I was advised to have my tubes and ovaries removed as soon as possible. I made arrangements with Dr. Peter Schwartz to perform the outpatient oophorectomy. In addition, I began heightened surveillance of my breasts with Dr. Baiba Grube (both of Yale Cancer Center). On my first breast MRI, and subsequent needle-core biopsy, a stage1 invasive ductal carcinoma was found on my chest wall that was not palpable or visible on a mammogram. I received the cancer diagnosis one week before my scheduled procedure with Dr. Schwartz.

My gynecological surgery was followed one month later with a bilateral mastectomy with Dr. Grube. My plastic surgeon was Dr. Stephano Fusi of Guilford. I was told that an early stage cancer like mine would normally be treated with a lumpectomy and radiation. However, because of my BRCA2 status, I was at increased risk to develop a second breast cancer. I decided immediately to have both breasts removed and reconstructed. I wanted to have a matching set, and I didn't want to be constantly worried about the remaining breast.

I chose to have nipple sparing surgery. This greatly lengthened my initial surgery (~12 hours), but meant that I didn't have to have nipple reconstruction and areola tattooing later on. After my sentinel lymph nodes were tested and found clear of cancer, my breast tissue was removed and Dr. Fusi placed expanders under the biceps muscles that cover the chest to begin the process of stretching them out. In the absence of breast tissue, the implants were placed under the chest muscles to give a better shape to the reconstructed breast mounds. He also used alloderm tissue to provide more support for the implants. Saline solution was injected into the expanders during the surgery so that I always had some shape to the chest. About six weeks after surgery Dr. Fusi began increasing the amount of saline in each expander by about 50cc/breast every two weeks. Two "fill-ups" later we both felt that the right size and shape had been achieved. The next step was an “exchange surgery” where the expanders were removed and permanent implants were placed. I had to decide between saline and silicone gel for the implants. After some deliberation, I chose to go with the new gel silicone given the more natural feel and the reported better comfort level.

My entire experience, from learning about my BRCA2 diagnosis to recovery, took about eight or nine months. My “after cancer” journey will take a lifetime. I should mention that because my breast cancer was detected early, I was very lucky and I didn't have to have chemotherapy or radiation.

Preparation for my surgeries, particularly the bilateral mastectomy, involved many things……

* I read "Prepare for Surgery, Heal Faster" and listened to the CD with guided meditation by Peggy Huddleston. This empowered me to take back control over my situation and go from feeling terrified to calm going into surgery.

* I built a webpage on www.CaringBridge.org to keep my community of family and friends informed about my progress. It gave them the opportunity to leave loving and supportive messages.

* I found the breast cancer support groups in my area and went to the meetings. I started with two, and now only go to one.

* I bought a full spectrum HappyLight 4500 from Verilux (http://www.verilux.com/) to sit in front of during my recovery to help fight depression.

* Another good book I read is Jessica Queller's "Pretty is What Changes," about her own experiences with BRCA and prophylactic bilateral mastectomy.

* The Necessity Bag that Dr. Grube's PA gave me at my pre-op appointment was a fun and useful surprise. A list of participating doctors can be found at www.necessitiesbag.org.

* I worked with a good physical therapist who has experience with mastectomy patients. I began about six weeks after surgery, in order to lay down functional scar tissue.

* Jin Shin Jitsu and Reiki massage were very helpful before and after surgery.

* I wore loose comfortable clothes with shirts that button down the front for easy on and off.

* I arranged to have a visiting nurse, from the VNA, to help with my drains when I first came home from the hospital (I had four drains, two on each side, for a total of four weeks). I found that using big safety pins to hold my drains together allowed me to flip them over my head and out of the way.

* I tried to eat more protein for healing, celebrate the little victories and appreciate my progress. I did things I enjoy, rested and laughed a lot!!!

Here are several websites that were useful:

www.cancer.org

www.facingourrisk.org

www.armyofwomen.org

www.lotsahelpinghands.com

www.cleaningforareason.org

Everybody's cancer experience is different. However, there's lots of help and hope available. Don't be afraid to ask questions, and don't be rushed into any decisions that don't feel right for you.

I hope this helps. Good luck.

To your health

~Libby Read more!

Fran's Bilateral Mastectomy Experience

I was 47 years old when I found out I was BRCA1 positive. Two years prior to that my sister was diagnosed with breast cancer at age 56. Her doctor suggested genetic counseling, due to our family history, and she learned that she carried a BRCA1 mutation. I waited two years to consider genetic counseling because I didn't think that I would have the gene mutation. I am one of five siblings, two of us are positive for BRCA1 (the oldest and the youngest (myself)).

Our family history includes our paternal grandmother and two paternal aunts who died in their early forties from breast cancer. A paternal female cousin was diagnosed with breast cancer in her forties and is doing well. Another female paternal cousin had ovarian cancer and died at age 45. Our father died from lung cancer at age 74.

After learning that I was BRCA1 positive in 2006, I chose to pursue increased breast surveillance. This included my usual routine - mammography in the spring, ultrasound in the summer, MRI in the winter. An MRI in December 2009 detected a breast lesion at the 5o'clock position on my left breast. After finally getting an ultrasound guided biopsy I was diagnosed on January 13, 2010 with invasive ductal carcinoma, stage 1.

I decided to have a double mastectomy with reconstructive surgery. I have researched every possible surgery there was and the doctors that did them. In making my decision, I was concerned about insurance coverage and if I would still have a job after all the time needed for recovery. After searching doctors, I decided that Dr. Barbara Ward would be my breast surgeon and that Dr. David Greenspun would be my plastic surgeon. It was also good to know that these doctors have worked together numerous times and had the highest regard for each other. I decided on reconstruction with DIEP (deep inferior epigastric perforator). My prep for this operation was to stop smoking. I then had work-ups with pulmonology, cardiology, my general practitioner and more blood tests, chest x-rays, breathing tests, cat-scans and urine tests. I also had an MRA (magnetic resonance angiogram) to evaluate the blood vessel that they needed to move from abdomen to breast area in the reconstruction process.

My surgery date was on March 5, 2010. The day came. Surgeries went well. Dr.Ward removed the cancer and some sentinel nodes (had a dye injected into my breast area the day before in the Nuclear Medicine Dep’t at Greenwich Hospital). Dr. Greenspun removed everything from the breasts and replaced the breast area with blood vessels from my abdomen. Then transferred my own fat, tissue and skin from my stomach to my breasts. This took 11 hours. It is microsurgery. My recovery in the hospital was 3 days. While there, I received my final pathology. The results were not what I was hoping for. It revealed a progesterone negative, estrogen weakly positive, HER-2/Neu POSITIVE breast cancer. This meant I needed chemotherapy. I began chemo on April 14, 2010 and it will continue through July 2010. I will be on herceptin for 1 year, until next April.

The first 3-5 weeks were definitely rough. I was sore and unable to take a daily shower, dress myself or tend to my stitches independently. Thank God for my husband and daughter. I couldn’t lift my arms over my head with out feeling sore. I still have numbness in my underarm are on my right side (4 months later).I didn’t feel comfortable driving till a month later. I was dependent on others to take me to my weekly check-ups with Dr. Greenspun. It was hard for me to accept care giving from others, since I had always been the caregiver for friends and family. That was the emotional toll on me and still is today. I need to learn to just accept “gifts” of caring from others. After the 6 week mark I went back to work. I am a cook in the Ridgefield public school system. I needed to depend on my staff more to assist me in my daily duties (i.e. heavy lifting). They also were a Godsend. When chemo started I needed their help even more. I was able to adjust my schedule and come in later. I still cooked and did the managerial stuff, but at a slower pace. I would get tired during the day .And this frustrated me, since I always did my duties faster and without a lot of assistance (very independent and stubborn at times).

This is all a new and unchartered journey for me, my family, and my friends .Would I do it over again? Yes. Would I do the same thing? Yes. Dr. Ward and her staff are awesome. Dr. Greenspun and his staff are phenomenal. Would HIGHLY recommend both doctors to any one.

Best to all, Frances Read more!

Rochelle's Bilateral Mastectomy Expereince

On June 10, 2009 I went to Yale Radiology for my annual screening mammogram. Dr. Philpotts, the chief radiologist, found an area of concern in my right breast. I was referred to Dr. Baiba Grube, who performed a surgical biopsy after an unsuccessful attempt at a less invasive method failed. I was 68 years old, fit, slim, a non-smoker who exercised and ate healthy, mostly organic food. I was in total shock.

There had been no breast cancer in my family that I knew of, but then I had only aunts by marriage. When I returned to Dr. Grube to learn the results of the biopsy, she took me in her arms and told me gently, "Rochelle, you have a baby cancer. But you are going to live a long life." She patiently discussed all my options and immediately referred me to Dr. Fusi, the wonderful plastic surgeon who I saw that same day. We talked about a little lift for the left breast and possibly doing a mastectomy and reconstruction on the cancerous right breast in lieu of a lumpectomy and radiation. Dr. Fusi and I discussed how difficult it would be to match the two breasts, as the biopsied breast was tiny and the left one a full cup size larger but very stretched and saggy. (I called them "Flopsy" and “Biopsy") He also told me that in my case, after radiation, it might not be possible to reconstruct the irradiated breast if I had a recurrence and wanted to go that route in the future. It was a lot to think about.

My husband called the American Cancer Society and within 2 days they had put me in touch with 2 women, one of whom decided on a lumpectomy and radiation, the other on a mastectomy and reconstruction. The one who chose the mastectomy became my "Bosom Buddy", and I couldn't have gotten through the ordeal without her!

At this point I had no idea that I was BRCA positive; and for aesthetic reasons I planned to do a single mastectomy with reconstruction. But having noticed that my father had died from pancreatic cancer and I am an Ashkenazi Jew, my very astute surgeon arranged for me to undergo genetic counseling. No one expected my results to be positive for a mutation in the BRCA2 gene!

As soon as I got that news, I scheduled a double mastectomy with reconstruction. I knew that I could not deal with the feeling that I had a ticking time bomb in my own body. My surgeon also ordered an MRI-guided biopsy of my left breast, which had showed some areas of concern. I was then referred to Dr. Peter Schwartz to discuss having my ovaries removed. That same day he scheduled a preparatory ultrasound, which showed a grapefruit-size cyst in one of my ovaries. (Miraculously, it eventually turned out to be benign.) So, within 3 days at Yale New Haven Hospital I had a nipple-sparing double mastectomy with reconstruction and a complete hysterectomy. My care was superb, and I'm here to tell the tale. But I must admit that after the initial euphoria I felt at still being alive, it took me an additional eight months to feel comfortable in my “new skin”.

At first my new breasts were anointed with antibiotic cream twice a day and covered by protective dressings. Steri-strips protected the sutures that would be removed by the plastic surgeon about a week later. There were 2 drains in each breast that had to be emptied twice each day. (My husband did this for me.) There was considerable swelling, and one of the nipples was more retracted than the other. One breast looked like it was having trouble surviving the trauma of surgery and reconstruction. It was difficult to get out of bed until I realized that I could push down with my arm to get leverage. I used pillows on either side of me to protect my breasts once I had permission to sleep on my side. I was uncomfortable, but not in enough pain to need medication.

In the shower I used a handheld shower attachment and sat on a cast aluminum garden chair that my husband brilliantly substituted for the ordinary shower chairs that you can find at Home Depot or medical supply houses. If you have abdominal surgery along with your mastectomy you will probably find it more comfortable to sit while showering. Make sure your supplies are all easily within reach --you don't want to bend down to get your soap!

I pinned the drains to a long ribbon that I wore around my neck in the shower. I arranged to have a visiting nurse check on me and had an aide who came once a week to wash and dry my hair for a couple of weeks. I tried to walk as much as possible, right from the beginning. I also drank unsweetened cranberry juice (reasonably priced at Trader Joe) and took a Probiotic (like Culturelle) to help my body cope with all the procedures and antibiotics. Ask your doctor if that would be appropriate for you. As soon as I was given permission, I started doing the appropriate exercises to prevent loss of motion and to regain my strength. I found it more comfortable to have smaller, more frequent meals than 3 square meals a day. The spacers felt like I was wearing an iron corset under my skin. Sometimes I felt like pulling them down, (one side often felt higher than the other) but of course I couldn't. . .

Months passed . . .

I had my permanent silicone (Gummy Bear) implants in December. I didn't know that there was such a thing as an “anti-nausea patch“ and spent the night after that surgery vomiting. I didn't like my implants at first; I thought they were too big and felt very self-conscious. None of my clothes fit.

More months passed. . .

“Tincture of time” did its work and I am sitting here writing my story wearing a sundress over my beautiful (size 32DD) “Angels Lace Demi” Victoria's Secret bra and matching bikini panties. I have just done a little yoga and made blueberry pancakes for my husband. When I finish writing this I will sit in my old Adirondack chair and read a good book. I've got my life back.

To all of you who are about to start this arduous journey I offer some suggestions in the hope that you will find them useful :

Always take a family member or close friend with you to all medical appointments. *Always take a family member or close friend with you to all medical appointments.

* Take notes and ask questions.

*Get a “Bosom Buddy” from the ACS. Call 1-800 227-2345

* Read “Pretty Is What Changes” by Jessica Queller. Ironically, she was being interviewed on NPR the very morning I went for my mammogram. She spoke eloquently about her decision to have a prophylactic bilateral mastectomy at a very early age.

* Use the BRCA babes as a support system -we are here for you as all our strong sisters have been there for us.

*Check www.necessitiesbag.org to see if your surgeon participates in the wonderful goodie bag program that will give you a gift of special treats to make you more comfortable after surgery. I didn't know about this little perk - make sure you don't miss out as I did.

* Go to Saxon Kent in Orange for superb fitting and a large selection of bras. Most insurance plans will cover at least 2 bras a year, so find out what you are entitled to get. In Orange, CT they are at 185 Post Rd. (203) 440 2916. They also send someone to the boutique at St. Vincent's Hospital in Bridgeport, CT. Phone (203) 794-3682

* I have heard that the new boutique at Smilow has a fitter from the lovely Soleil Toile lingerie shop in Westport, Ct.

* Don't expect to be given a supply of surgical bras when you leave the hospital. I was only given one, reluctantly, and they take a long time to dry.

* After my permanent implants were in I was told that I needed to wear a bra 24/7 because my skin was very thin and there was a danger of their falling if I didn't. That was unexpected . . .but after the initial disappointment I adjusted and am now fine with it.

* To sleep in I found the most comfortable bra was the Grenier 8576 from Canada by way of Saxon Kent. A very supportive bra to wear in the first months after your permanent implants is the Amoena Lara 0675, also at Saxon Kent. (they will alter any bra to fit you, shorten the straps, and give you extenders for the back if necessary).

* Bring a pillow in the car after surgery to protect your chest from the seat belt.

*A few inexpensive (you'll never want to wear them again) shirts that button down the front will be most comfortable at first, as will drawer string bottoms. You can also slit a large undershirt down the back and fasten it at the top with a safety pin.

*Sometimes people just don't know what to say, but they care and they want to help. Let friends do nice things for you. Accept their offers of food with gratitude -even if it's not something you'd make yourself.

*Don't be ashamed to say “I need help with this.”

*Prepare your night table with fragrant hand cream, lip balm, a good reading lamp, and light reading material.

*Stock up on all the DVD's you missed--now's the time to get a netflix subscription!

*Don't feel guilty about ordering takeout. Indulge yourself.

*Pamper yourself in small ways--a manicure and pedicure before surgery or chemo is something you deserve.

*As soon as you can leave the house join a support group. Just meeting others who have gone through what you are dealing with now is enormously helpful. If your hospital or town offers support services for cancer survivors take part in all the programs you possibly can. Call your local hospital, check listings in the local newspapers (that's how I found mine), or ask the reference librarian at your library.

*Restorative yoga will make a significant improvement in your recovery time.

*Be prepared to accept that all the attention you were given in the past, during surgery, and for many of you during chemo, is quite suddenly withdrawn as you recover. It may make you feel a bit lost, but you can be sure that any time you write to us at our support site we will always be there for you.

Good health and Good Luck! Rochelle

Read more!

New Article Featuring Information about Genetic Counseling and Testing

Make sure to check out this new publication "Should You Consider Genetic Counseling and Testing?" Click on the above light blue link to be directed to the article. Read more!

Great Online Resources for Pheochromocytoma and Paraganglioma

http://pheo-para-alliance.org/

http://pheoparatroopers.org/

Pheochromocytoma Support Board on Facebook

http://www.facebook.com/pages/Pheochromocytoma-Support-Board/238291802255?ref=ts&v=wall

Pheochromocytoma Support Group on Facebook

http://www.facebook.com/#!/group.php?gid=2295628620&ref=ts

Read more!

Bright Pink Event

Join Bright Pink in creating mouth-watering desserts and mingling with other young women at high risk for breast and ovarian cancer

EVENT: Bright Pink Connecticut’s Dessert Baking Event

DATE: Thursday, July 22nd

TIME: 7:00-8:30 p.m.

Read more!

Special Event Wednesday June 2, 2010

Visit Lucinda's Hair in Cheshire, CT for a special event discussing hair restoration options for patients undergoing chemotherapy and radiation treatments. Wednesday, June 2, 2010 from 5:00-7:00 pm at 650 Highland Avenue, Route 10, Cheshire, CT 06410. Read more!

Cleaning for a Reason

Cleaning for a Reason provides FREE housecleaning for women undergoing chemotherapy. The services provides 1 cleaning a month for up to 4 months. They serve the entire USA and currently have 547 partners. Please visit their website for more information and details on how to apply.

Read more!

Yoga May Help Cancer Patients After Treatment

Click on the above light blue link for the full article. Read more!

DTC Genomics Targeted by Congressional Investigation

Click on the above light blue link for the full article. Read more!

FDA investigates new controversial genetic testing.

Ellen Matloff, MS, Director of the Yale Cancer Center Genetic Counseling Program, recently participated in interviews for NBC Nightly News and The Today Show with health correspondent Robert Bazell to discuss the commercial availability of genetic testing kits. Walgreen's had planned to sell genetic testing kits through their stores throughout the country beginning today, but later announced they will delay their plans. Click on the above light blue link to see the video. Read more!

New video!

Please click on the above light blue link to visit our new video featuring Ellen, a healthy woman who learned that she carries a BRCA mutation. Ellen’s mother died from ovarian cancer and she is of Jewish ancestry. In her video, she discusses her experiences with genetic counseling, talking with her children about her result and her decision process to have a prophylactic bilateral mastectomy and oophorectomy. Also hear from her husband, who discusses what this experience was like for him. Thank you for sharing your story Ellen! Read more!

Our video library is expanding!

Our video library is expanding! Please click on the above light blue link to view our recently uploaded video featuring Tracey. Based on her personal history of breast cancer and her family history of ovarian cancer, Tracey chose to pursue genetic counseling and learned that she carried a BRCA mutation. In her video, she discusses her difficult decision to have her ovaries removed and her concerns about the possible menopausal side effects from that surgery. Thanks for sharing your story Tracey! Read more!

Myriad raises price of BRCA testing, again.

On April 1, 2010 - three days after a court ruling that invalidated Myriad's patents on the BRCA1 and BRCA2 genes (associated with hereditary breast and ovarian cancer) the company increased their prices for genetic testing. Old cost =$3,770. New cost = $4,040 for full sequencing plus rearrangement testing.

Read more!

Congratulations to Christina Appelgate!

Congratulations to Christina Applegate on her recent engagement! Christina was diagnosed with breast cancer at age 36, and learned that she carries a BRCA1 mutation and chose to have a bilateral mastectomy with reconstruction. She reports that her fiancé has been "incredible" through her diagnosis and surgery. Follow the light blue link above to hear Christina's interview on Access Hollywood about breast reconstruction. Read more!

The latest version of Cancer Bytes is now available!

Check out the latest version of Cancer Bytes: Straight Talk about Early-Onset Ovarian Cancer. Click on the above light blue link to listen to this interview.

Read more!

Should our genes be patented?

Myriad’s patents on the BRCA genes (associated with hereditary breast and ovarian cancer) include a sequence of DNA that is found in millions of other locations in the genome. Anyone making, using, selling, or importing this segment is in violation of these patents. Upon inspection, these patents appear to be surprisingly broad, and if enforced would have substantial implications for medical practice and scientific research. What do you think: should our genes be patented? Read more!

"A Body Resculpted"

Click on the above light blue link to read Ms. Freedman Roth's intimate essay entitled "A Body Resculpted" about her journey through breast surgery and reconstruction. Read more!

In Depth Report on Gene Patenting

Follow the above light blue link to view CBS's 60 Minutes segment on gene patenting and what the ACLU is doing to ensure no one can patent your genes!

Read more!

Gene Patenting Featured on 60 Minutes

60 Minutes examines the idea of biotech firms patenting genes for profit! Tune in on Sunday, April 4th at 7 pm. Click the above light blue link to see a preview. Read more!

Patents On Breast Cancer Genes Ruled Invalid

The patents on the BRCA1 and BRCA2 genes, associated with hereditary breast and ovarian cancer, were ruled invalid in a New York federal court yesterday. The precedent-setting ruling marks the first time a court has found patents on genes unlawful.

Please click on the above light blue link to be directed to the New York Times article.

Please see below for the full press release from the ACLU.

FOR IMMEDIATE RELEASE

March 29, 2010

CONTACT: Maria Archuleta, (917) 892-9180 or (212) 549-2689 or 2666; media@aclu.org

NEW YORK – Patents on genes associated with hereditary breast and ovarian cancer are invalid, ruled a New York federal court today. The precedent-setting ruling marks the first time a court has found patents on genes unlawful and calls into question the validity of patents now held on approximately 2000 human genes. The ruling follows a lawsuit brought by a group of patients and scientists represented by the American Civil Liberties Union and the Public Patent Foundation (PUBPAT), a not-for-profit organization affiliated with Benjamin N. Cardozo School of Law.

"Today's ruling is a victory for the free flow of ideas in scientific research," said Chris Hansen, a staff attorney with the ACLU First Amendment Working Group. "The human genome, like the structure of blood, air or water, was discovered, not created. There is an endless amount of information on genes that begs for further discovery, and gene patents put up unacceptable barriers to the free exchange of ideas."

The ACLU's and PUBPAT's lawsuit against Myriad Genetics and the University of Utah Research Foundation, which hold the patents on the BRCA genes, as well the U.S. Patent and Trademark Office (USPTO), charged that the challenged patents are illegal and restrict both scientific research and patients' access to medical care, and that patents on human genes violate the First Amendment and patent law because genes are "products of nature."

The court today granted the U.S. Patent and Trademark Office's (USPTO) request that it be released as a defendant in the lawsuit. The court found that it was unnecessary to reach the First Amendment claims against the USPTO because it had already ruled in favor of the plaintiffs.

The lawsuit, Association for Molecular Pathology, et al. v. U.S. Patent and Trademark Office, et al., was filed on May 12 in the U.S. District Court for the Southern District of New York on behalf of breast cancer and women's health groups, individual women, geneticists and scientific associations representing approximately 150,000 researchers, pathologists and laboratory professionals.

Because the ACLU's lawsuit challenges the whole notion of gene patenting, its outcome could have far-reaching effects beyond the patents on the BRCA genes. Approximately 20 percent of all human genes are patented, including genes associated with Alzheimer's disease, muscular dystrophy, colon cancer, asthma and many other illnesses.

The court recognized the far-reaching impact of the case on medical research and public health. The opinion stated, "…the resolution of the issues presented to this Court deeply concerns breast cancer patients, medical professionals, researchers, caregivers, advocacy groups, existing gene patent holders and their investors, and those seeking to advance public health."

"The court correctly saw that companies should not be able to own the rights to a piece of the human genome," said Daniel B. Ravicher, Executive Director of PUBPAT and co-counsel in the lawsuit. "No one invented genes. Inventions are specific tests or drugs, which can be patented, but genes are not inventions."

The specific patents the ACLU had challenged are on the BRCA1 and BRCA2 genes. Mutations along the BRCA1 and 2 genes are responsible for most cases of hereditary breast and ovarian cancers. Many women with a history of breast and ovarian cancer in their families opt to undergo genetic testing to determine if they have the mutations on their BRCA genes that put them at increased risk for these diseases. This information is critical in helping these women decide on a plan of treatment or prevention, including increased surveillance or preventive mastectomies or ovary removal.

"We are extremely gratified by this groundbreaking decision," said Sandra Park, staff attorney with the ACLU Women's Rights Project. "This is the beginning of the end to patents that restrict women's access to their own genetic information and interfere with their medical care."

The patents granted to Myriad give the company the exclusive right to perform diagnostic tests on the BRCA1 and BRCA2 genes and to prevent any researcher from even looking at the genes without first getting permission from Myriad. Myriad's monopoly on the BRCA genes makes it impossible for women to access alternate tests or get a comprehensive second opinion about their results and allows Myriad to charge a high rate for their tests.

Several major organizations, including the American Medical Association, the March of Dimes and the American Society for Human Genetics, filed friend-of-the-court briefs in support of the challenge to the patents on the BRCA genes.

Attorneys on the case include Hansen and Aden Fine of the ACLU First Amendment Working Group; Park and Lenora Lapidus of the ACLU Women's Rights Project; and Ravicher and Sabrina Hassan of PUBPAT.

Today's decision can be found online at: www.aclu.org/free-speech-technology-and-liberty-womens-rights/association-molecular-pathology-et-al-v-uspto-et-al

More information about the case, including an ACLU video featuring breast cancer patients, plaintiff and supporter statements and declarations and the legal complaint, can be found online at: www.aclu.org/brca

Read more!

Get the facts about colorectal cancer!

"Get the facts about colorectal cancer," a CPTV town hall event is now available for viewing online. Our Director, Ellen Matloff, joins the panel ~1hr into the conversation to discuss hereditary colon cancer. Please click on the light blue link above to be directed to the video. Read more!

Our Spring 2010 Newsletter is Now Available!

Please click on the above light blue link to view our Spring 2010 Newsletter!

Read more!

Get the facts about colorectal cancer!

Participate in a live Town Hall "Confronting Colon Cancer" on March 24th at 7:15 in Hartford, CT. Seating is limited and you must RSVP to awilliamson@cptv.org to reserve your spot. Read more!

Fact vs. Fiction: Myriad’s Response to the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS)

On January 15, 2010, Gregory Critchfield, MD, MS, president of Myriad Genetic Laboratories, Inc., wrote a letter to the SACGHS in response to statements made by Lisa Schlager on behalf of the advocacy organization, FORCE at an October 9, 2009 SACGHS meeting. However, several statements in their response letter misrepresent much of the available data as illustrated below:

Myriad Statement:

Community physicians can capably perform genetic counseling and deliver genetic services to patients in their practice.

Fact:

As evidence supporting this statement, Myriad cites a single study published by Keating et al in 2008.1 However, Myriad distributed the surveys for this study and included a $20 prepaid cash incentive with each survey.1 Myriad fails to mention that physicians in this study were frequently assisted by genetic counselors, nurse geneticists, or other counselors in providing genetic counseling.1 They also fail to mention that physicians who were assisted by these other providers were more likely to provide appropriate counseling (i.e. discuss all six recommended counseling items).1 Myriad also overlooks the bulk of data from multiple studies indicating that most providers lack the time, knowledge, and/or awareness of pertinent issues to provide adequate genetic counseling.2,3,4,5

Myriad Statement:

Myriad defends its policy of encouraging doctors to provide genetic counseling in part due to a shortage of genetics experts.

Fact:

Much of the evidence for the potential shortage of genetics experts is anecdotal and there has been very little focus on obtaining more data about this potential shortage, the reasons for this shortage, and ways of increasing the number of certified genetic counselors.3,6 In addition, the major Myriad advertising campaigns to date have been in large, urban areas with adequate numbers of genetics professionals. Myriad fails to mention that in areas where access to certified genetic counselors may be a concern, there are options for accessing genetic counseling by genetics professionals via satellite clinics and phone- and/or internet-based telemedicine services (www.informeddna.com ) and that several major health insurance companies now cover these services.6,7,8

Myriad Statement:

Myriad states that they provide physician awareness and education prior to their DTC advertising campaigns “in order that physicians be knowledgeable and can respond to inquiries that may come from their patients”.

Fact:

Myriad cites a study published in 2004 which evaluated one of their DTC marketing campaigns as evidence that their campaigns did not result in adverse events or inappropriate counseling or testing. However, they do not indicate that this study found that providers in the cities where they performed physician awareness and education did not have better knowledge than those in comparison cities (where no physician awareness or education was performed) or that providers in all of the cities often lacked the knowledge to provide adequate genetic counseling and testing for hereditary breast and ovarian cancer.9

Myriad Statement:

Myriad implies that genetic testing and the marketing of genetic testing is subject to significant governmental regulation as well as intensive insurance scrutiny.

Fact:

Although several government agencies have the authority to regulate laboratories that perform genetic tests as well as their advertising claims, many experts and professional organizations agree that the current regulations are limited and insufficient and thus they have called for additional oversight.10,11,12,13

Myriad Statement:

Myriad indicates that it is their “belief and experience that the frequency of these kinds of unfortunate problems [patients receiving incorrect or inadequate genetic counseling and testing] is extremely rare as Myriad and many other organizations work to provide the highest quality service for patients”.

Fact:

Cancer genetic counseling centers nationwide and national patient advocacy groups report an increasing number of these adverse events (Matloff, unpublished data). Again, Myriad fails to acknowledge that most existing data shows that many providers lack the knowledge to provide adequate genetic counseling2,3,4 and that in a study of genetic testing for hereditary colon cancer, providers misinterpreted test results in about a third of cases in a way that could lead to serious clinical errors.14 In addition, several insurers have changed their preauthorization policies for Myriad’s tests due to concerns about inappropriate or incorrect genetic counseling and testing and their belief that their members and providers will benefit from having access to certified genetic counselors.15

Myriad Statement:

Myriad encourages physicians to refer “complex cases” to genetics experts.

Fact:

Myriad does not give any information regarding the how they define “complex cases”. Many experts would agree that it may be difficult for a provider to determine which cases are “complex” and need referral to a genetics specialist, particularly when the provider’s knowledge of genetics is limited.3 In addition, the majority of patients who pursue genetic testing receive negative test results but these cases are also often the most complex in terms of result interpretation, recommendations for further genetic testing for the patient and/or family members, and medical management recommendations.

References:

1. Keating NL et al. Physicians’ experiences with BRCA1/2 testing in community settings. J of Clinical Oncology 2008;26:5789-96.

2. Doksum T, Bernhardt BA, and Holtzman NA. Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing? Genetics in Medicine 2003; 5(2):99-105.

3. Greendale K and Pyeritz RE. Empowering primary care health professionals in medical genetics: How soon? How fast? How far? Am J Med Genet 2001;106:223-232.

4. Wideroff L et al. Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet 2005; 42:749-755.

5. O’Neill SC et al. Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents. Familial Cancer 2009.

6. Rosenthal ET. Shortage of genetics counselors may be anecdotal, but need is real. Oncology Times 2007;29(19):34,36.

7. Informed Medical Decisions. Adult Genetics: Genetic counseling for your health concerns. Available at: http://www.informeddna.com/index.php/patients/adult-genetics.html . Retrieved August 24, 2009.

8. Informed Medical Decisions. News: Aetna Press Release: Aetna to offer access to confidential telephonic cancer genetic counseling to health plan members. Available at: http://www.informeddna.com/images/stories/news_articles/aetna%20press%20release%20bw.pdf . Retrieved August 24, 2009.

9. Centers for Disease Control. Genetic testing for breast and ovarian cancer susceptibility: Evaluating direct-to-consumer marketing--- Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. Morbidity and Mortality Weekly Report 2004; 53(27):603-606.

10. Javitt GH and Hudson K. Federal Neglect: Regulation of Genetic Testing. Issues in Science and Technology 2006; 22(3):59-66.

11. Gollust SE, Hull SC, and Wilfond BS. Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 2002; 288(14):1762-1767.

12. Gray S and Olopade OI. Direct-to-Consumer Marketing of Genetic Tests for Cancer: Buyer Beware. JCO 2003; 21(17):3191-3193.

13. Robson ME et al. American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J of Clinical Oncology 2010; 28(5):893-901.

14. Giardiello FM et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine 1997; 336(12):823-827.

15. Ray T. Myriad defends policy of urging docs to genetically counsel BRCAnalysis customers. Pharmacogenomics Reporter. Available at: http://www.genomeweb.com/dxpgx/myriad-defends-policy-urging-docs-genetically-counsel-bracanalysis-customers?page=show . Retrieved February 11, 2010.

Read more!

Registration for FORCEs conference in Orlando is now open!

The program offers general sessions and workshops for individuals and families with hereditary breast and ovarian cancer. Click on the light blue link above for more information. Read more!

FORCE Conference June 25-26th in Orlando

Ellen Matloff, MS, the director of the Yale Cancer Genetic Counseling Program is speaking at FORCE's annual conference on June 25-26th. Click the light blue link above to see the full agenda and registration information.

Read more!

Join us for a film screening of "In The Family" on February 11, 2010

Come join us on Thursday February 11th for an evening screening of the documentary film "In the Family" by filmmaker Joanna Rudnick. The screening will be followed by a panel discussion with scientific experts and legal practitioners addressing the implications of gene patents for access to health care. The conference is open to the public but requires registration, please click on the above light blue link for more details! For more information about the film please visit www.inthefamilyfilm.com

"In The Family" Film Screening and Panel Discussion

Thursday February 11, 2010

6:30 pm

Room 129 at Yale Law School

The film screening is part of the Access to Knowledge & Human Rights Conference focused on intellectual property laws, telecommunication policies, and technology advancement.

The conference is open to the public but registration is required.

For details - click on the above light blue link or visit http://www.law.yale.edu/intellectuallife/a2k4.htm Read more!

Does Ancestry Play a Role in Cancer Predisposition?

Carey Weiner was 35 was she was diagnosed with breast cancer. Her maternal grandmother died from breast cancer, and her mother and aunt tested positive for a genetic mutation in the BRCA1 gene. Before her diagnosis she expressed her concern to her gynecologist who told her, in error, that she was too young to worry about it. Click on the light blue link above to read her story. Read more!