Thursday, August 21, 2008

Christina Applegate

Christina Applegate was recently diagnosed with breast cancer at age 36 and learned that she carries a BRCA1 mutation. Her family history includes her mother who was diagnosed with early-onset bilateral breast cancer. Ms. Applegate pursued a bilateral mastectomy.

As many of you know, BRCA mutation carriers are at increased risk for a second primary breast cancer, either in the affected or unaffected breast. This lifetime risk ranges from 40-64% and is due to the fact that the BRCA mutation is present in every breast cell. For women who carry a BRCA mutation, bilateral mastectomy significantly reduces the risk of a second primary breast cancer.

For more information please click on the light blue link above "Christina Applegate." To view her video interview with Good Morning America please search "Christina Applegate" on the GMA website. Read more!

BRCA on Good Morning America

To visit Good Morning America's segment on BRCA and breast reconstruction click on the above light blue "BRCA on Good Morning America" link. Read more!

Friday, August 8, 2008

Be Bright Pink

Be Bright Pink is a unique resource providing support to young women who are at high risk for breast and ovarian cancer. To visit the web site, click above on the light blue "Be Bright Pink" link. Read more!

Genetic Information Nondiscrimination Act

The passage of the Genetic Information Nondiscrimination Act (GINA) in May of 2008, signals a new era in the field of genetic counseling and testing. It is the first and only federal law that provides broad protection of an individual’s genetic information against health insurance and employment discrimination. Men and women with a personal or family history of cancer can now confidently pursue genetic counseling and testing knowing that there are protections in place that guard against the loss of group or individual health insurance.

Before GINA, both the federal government and individual states have tried to address genetic discrimination through legislation. The Health Insurance Portability and Accountability Act (HIPAA) of 1996 took large strides to protect genetic information, forbid exclusion, prohibit higher premiums and ban the use of genetic information as a preexisting condition. However, HIPAA and other state laws did not fully define genetic information, protect predictive information, apply to individual health plans or address employment.

GINA specifically prohibits issuers of health insurance (including group, individual and Medicare supplement policies) from using genetic information to:

• establish eligibility, contribution amounts and premium fees;

• specify the conditions of the policy;

• impose a preexisting condition exclusion.

GINA specifically prohibits employers, labor organizations, employment agencies and joint labor-management committees from using genetic information to:

• fire or refuse to hire an employee;

• discriminate against an employee with respect to compensation, promotions, or terms, conditions or privileges of employment;

• treat employees differently in admission to apprenticeships, training or retraining programs.

GINA also specifically prohibits employers and health insurers from requesting, requiring, disclosing or purchasing the results of a genetic test or genetic information. It has also been proposed that a greater number of individuals will be willing to participate in genetic research knowing that their information is protected by this new law. It is the first piece of legislation that details actions individuals can take if they do experience genetic discrimination.

While GINA is the most comprehensive law of its kind, it is important to note that it does not apply to members of the US military, veterans obtaining healthcare through Veteran’s Administration, or the Indian Health Service. It also does not address life insurance, disability insurance, or long-term-care insurance. However, it is still unclear if discrimination in these areas poses a significant threat.

The legislation was signed into law on May 21, 2008 and will take effect in 12 and 18 months for health insurance and employment protections, respectively.

For more information about GINA, please see the following resources:

Summary chart of what GINA does and does not cover prepared by the Genetic and Public Policy Center

Library of Congress entry for the GINA bill (H.R. 493)

Danielle Campfield, MS

Genetic Counselor

Yale Cancer Genetic Counseling

Read more!

Are You a Candidate for BRCA testing? What the ads don't tell you.

The genetic testing company that holds an exclusive patent on genetic testing for hereditary breast and ovarian cancer (BRCA1 and BRCA2 genes) has launched a marketing campaign to aggressively advertise this testing directly to consumers and encourage them to pursue testing. Please keep in mind that this is a marketing campaign designed to increase this company’s revenue

The genetic testing company that holds an exclusive patent on genetic testing for hereditary breast and ovarian cancer (BRCA1 and BRCA2 genes) has launched a marketing campaign to aggressively advertise this testing directly to consumers and encourage them to pursue testing. Please keep in mind that this is a marketing campaign designed to increase this company’s revenue and consider the following: These advertisements:

• fail to mention that the majority of breast cancer is not due to a hereditary cause.

• do not state that there are risk factors that can be used to determine which individuals may benefit from genetic counseling and testing.

• exaggerate and oversimplify the benefits and downplay the possible risks and complexities of this testing.

• have been described as inaccurate, misleading, and using scare tactics by several publications.

• imply that the test is a simple, straightforward, stand-alone tool for assessing risk and determining medical management and that it can be correctly ordered and interpreted by any provider.

The cancer genetic counseling and testing process (including which test to order and interpreting the results correctly) can be quite complex. It is not simply a positive or negative test result. Studies have shown a high rate of genetic test result misinterpretation among providers who do not specialize in this area. Furthermore, particularly in low-risk families, the risks (e.g. ambiguous test results, failure to obtain insurance payment for this expensive (~$3000) test) of testing may outweigh the benefits; therefore, it is important to carefully weigh the risks and benefits of testing. If your personal and/or family history meets any of the following risk factors, you may wish to consider seeing a cancer genetic counselor for a personalized risk assessment and discussion of the risks and benefits of appropriate testing options.

Consider genetic counseling if you have a personal and/or family history of:

• Breast cancer diagnosed before age 45.

• Multiple cases of breast cancer on the same side of the family.

• Ovarian cancer in a family with breast cancer.

• Male breast cancer.

• Multiple cases of pancreatic cancer on the same side of the family.

• The combination of breast, ovarian, and/or pancreatic cancer on the same side of the family or in a single individual.

• Jewish ancestry in combination with any of the above.

• Jewish ancestry and even one case of breast or ovarian cancer (even in the absence of additional family history).

• Medullary breast cancer and triple negative breast cancer are over-represented in women with hereditary breast and ovarian cancer.

Learn more about cancer genetic counseling at And here is the rest of it. Read more!

Genetic Testing: Finding The Right Specialist Can Make A Difference

On a daily basis, we are hearing alarming stories about people having BRCA genetic testing under less-than-ideal situations. Increasingly, people are being offered inappropriate testing and are receiving their test results unaccompanied by proper information about their risk for cancer or their risk-management options. In general, these stories involve individuals who are tested at a physician’s office, when they should be referred to a board-certified genetic counselor or an equally qualified health care provider. These stories highlight the importance of meeting with a properly-trained genetics counselor prior to having genetic testing. My concern is that non-qualified health care professionals ordering genetic tests will become the norm. Between consumers who are unaware of experts specifically trained in genetics and physicians unequipped with the knowledge about when to refer, people are being denied access to health care experts who are best able to help them make important health care decisions regarding cancer risk and prevention.

The National Comprehensive Cancer Network (NCCN) is a consortium of top cancer experts who develop consensus guidelines for cancer screening, prevention, and treatment. NCCN guidelines outline the criteria for determining if cancer in a family may be hereditary. For people who match the guidelines, the NCCN recommends referral to a genetics professional prior to genetic testing. Therefore genetic counseling is considered standard-of-care for those who have a family cancer pattern suggestive of hereditary cancer. BRCA testing without a full pre-testing counseling session (a typical session usually takes 60 minutes) that includes a three-generation pedigree (if available), a thorough discussion of the benefits and limitations of testing, and a list of risk management options, does not meet standard-of-care recommendations.

Like many other fields in medicine, genetics is rapidly evolving with new discoveries published daily. It is difficult for non-genetics experts to keep up-to-date on the latest information. And, although genetic testing may seem fairly straightforward, certain aspects of the process require specific training in genetics. Most doctor’s offices are not prepared to provide an hour-long appointment with an expert—a standard part of the counseling process. Genetic counselors help individuals and families make informed decisions about genetic testing. These specially-trained experts provide education regarding genetics and heredity in a way that people can comprehend and use to make the best decisions about their risk. Counselors do not try to persuade people to have or avoid genetic testing; they discuss appropriate cancer screening, risk management, and follow-up care based on the most recent medical literature and individual risk. Because genetic counselors are also familiar with state and federal laws regarding information and discrimination, they can address common concerns about the privacy and confidentiality of personal genetic information.

The following discussions occur in a genetic counseling session prior to genetic testing:

• Reviewing family history of cancer, including information about family members who never developed cancer

• Assessing and explaining risk for hereditary cancers and/or the chance to detect a mutation through genetic testing

• Describing the benefits and limitations of genetic testing

• Describing available medical management options based on test results

• Discussing whether a person may benefit from genetic testing

• Determining which family member is the most appropriate to begin the genetic testing process

• Assisting with insurance submittals for genetic testing

The following discussions occur in a genetic counseling session when results are received:

• Interpreting genetic test results and explaining what they mean for individuals and their families

• Providing referrals to experts for follow-up screening and risk management

• Providing referrals to support resources and research opportunities (including research on genetic testing, screening, treatment, etc.)

Recently we heard from one young woman who received genetic testing in her doctor’s office. After waiting three months for her results, the woman finally called the office. The nurse told her, “Oh, your test was misfiled as normal by the doctor. The results are positive, and by the way, your risk for breast cancer is 87%.” The young woman was alone in her car at the time. This is not the ideal way to receive this information (nor is this the ideal information). Communicating genetic test results requires skill and knowledge. There is a huge difference between “lifetime risk” and a “likelihood of cancer at that moment.” A young woman in her 20s who has a BRCA mutation has less than a 5% chance that she has cancer at that moment. Certainly she will need to make risk-management decisions, but she should not be pressured into make urgent decisions, (especially given that her results have been available for two months or more). Communicating test results in such a hapless and insensitive manner when someone is unprepared to receive them robs people of credible and empowering information, resources, and a risk-management plan at a time when they most need to hear it.

Another recent case illustrates how problems can occur when inadequately-trained health care providers order testing. A different young woman was ordered a $3,000+ full-sequencing BRCA test by her doctor. However, because her father had a known mutation, the correct test for her would have been single site testing, at a cost of about $400! The woman’s mother said, “When my daughter received her positive results, the doctor didn’t seem to know if they were positive or negative. The doctor apologized for the wait, explaining that she was on the phone trying to get information about the results. I took one look at that analysis and knew the results immediately. I had seen the same positive results for my husband! My daughter needed testing only for BRCA1/2, but instead, they performed the more expensive comprehensive testing!”

Some critics assert that we do not have enough genetics experts in our country to provide services for those who need the information. This argument has been used to justify genetic testing in the primary-care setting. Yet, many of the horror stories that we are hearing of people who have been denied genetic counseling involve large cities where genetic counselors are readily available. And for those who can’t travel or prefer not to travel to see an expert, full genetic counseling with board-certified genetic counselors is available via phone through Informed Medical Decisions, a health care service that offers genetic counseling with board-certified experts.

It is not appropriate for physicians to order a test they don’t thoroughly understand, and then only refer patients if the results return with a mutation. A portion of people who receive genetic testing will have a result known as an “uninformative negative test.” These ambiguous results mean that the patient and/or her family may still be at high risk for cancer. In some cases the ambiguous test is a result of the incorrect test being ordered. If physicians only refer people who test positive for a gene mutation and only after the results are available, they deny the consumer the opportunity to understand what the test may mean prior to ordering the test. Additionally, a portion of people who actually are at high risk for cancer will be told that they are at normal risk because of a misinterpreted test result. Currently no government agency regulates inappropriate genetic testing or testing without the benefit of genetic counseling. Just because doctors offer genetic testing does not mean they have the special training needed to provide genetic counseling, order the appropriate test and interpret the results correctly. Knowledge is our best protection. Anyone who is interested in learning if the cancer in their family is hereditary or anyone who is offered genetic testing from a physician has the right to insist on a referral to a genetics expert. Most insurance companies will cover the cost of genetic counseling. To find a genetics expert near you, visit the page on finding health care specialists on the FORCE website.

Sue Friedman, DVM

Executive Director

FORCE: Facing Our Risk of Cancer Empowered Read more!