Direct-to-Consumer Genetic Tests

BY SUE FRIEDMAN

RISKS and RESPONSIBILITIES - A BREAST CANCER ADVOCACY PERSPECTIVE.

In 1996, I entered the world of breast cancer advocacy through my own diagnosis at age 33. As a veterinarian, I had some medical background, but limited information about my diagnosis or how best to navigate the system. At the time, there were few resources focused on hereditary cancer and genetics. After my initial treatment of a unilateral mastectomy with TRAM flap reconstruction, I learned from a magazine article that I fit the criteria for a hereditary syndrome. I was angry that my health care providers hadn’t given me basic information that could have saved me from unnecessary surgeries. But they, too, were in the dark about hereditary breast cancer. Although it cost me another two surgeries, fortunately it didn’t cost me my life. I was grateful to learn about genetic testing and preempt a second diagnosis of cancer. (Pathology from my prophylactic mastectomy found DCIS in my “healthy breast.”) The lack of adequate information and resources motivated me to found FORCE: Facing Our Risk of Cancer Empowered, the only nonprofit organization devoted to helping individuals and families affected by hereditary breast and ovarian cancer.

For more of this story, click on the above light blue link and scroll down to page 17. Or visit: http://www.gene-watch.org/genewatch/GeneWatch_Vol21No3-4.pdf Read more!

Sue Friedman of FORCE speaks with the Secretary’s Advisory Committee on Genetics Health and Society

Comments Submitted to the Secretary’s Advisory Committee on Genetics Health and Society Yesterday I had the honor of being asked to submit public commentary to the Secretary’s Advisory Committee on Genetics Health and Society. This committee reports to the Secretary of Health and tackles the emerging and challenging issues being faced as genetic research expands at a rapid pace. The committee seemed very interested in my statement and members of the committee had positive comments about FORCE and the role we play as an organization advocating for people and families affected by hereditary cancer. Unfortunately even with a growing number of genetic tests becoming available, there are large regulatory gaps that allow tests that have not be validated to be marketed to consumers without any governing agency overseeing the information being transmitted to consumers. This is very different from the situation with pharmaceutical agents where the FDA has a role not only in determining what medications are available, but also in overseeing what manufacturers can say about their products, how they are marketed, and in tracking adverse events caused by the product.

Below is a summary of the comments I presented.

“I thank the Secretary’s Advisory Committee on Genetics, Health, and Society for inviting me to present comments. I’m founder and Executive Director of the national nonprofit organization Facing Our Risk of Cancer Empowered (FORCE), an organization devoted to improving the lives of individuals and families affected by hereditary breast and ovarian cancer. Part of our mission includes advocating for the health and wellbeing of our community affected by these cancers. The goal of my testimony is to alert the SACGHS of a growing issue regarding genetic testing that seems to be increasing in frequency and is taking a toll on the community that I serve and to remind you that people are making real-life decisions based on genetic test results.

Unfortunately, once a test is offered to the public, consumers assume and expect that the test has been validated, has gone through an FDA approval process, has clinical utility, and any marketing claims must be true. The lack of government oversight on laboratory tests by CLIA-approved laboratories is leaving a large knowledge and regulatory gap that is being filled in by parties not necessarily acting in the best interest of consumers. Lack of government oversight with regards to appropriate genetic testing and assuring access to genetics experts:

*Leads to wasted healthcare spending as inappropriate tests are ordered and improperly interpreted

*Leads to consumer harm as people are being given inappropriate or incorrect information about the meaning of a genetic test results

*Denies consumers information about standards-of-care and denies them the ability to report adverse events or circumstances

At FORCE we have begun to document adverse outcomes in cases where people were not given access to, nor made aware of the option of consulting with an expert in cancer genetics prior to testing. This includes cases where people were told their tests were negative when they were positive, positive genetic tests being disclosed to people while driving, full-sequencing genetic testing being ordered when a single-site test was appropriate, and a recent case where the wrong test was ordered leading a woman to believe she was BRCA negative, when she was actually BRCA positive. This particular woman chose a lumpectomy and radiation over mastectomy based on the negative test result.

An alarming (but perhaps easily remedied) aspect of the situation is that the above situations can be linked back to actions and communications from the companies doing the testing:

*At more than one conference I listened as genetic testing company exhibitors presented to health care professionals that “you don’t need to refer a patient to a genetics expert first. You can order the test and if they positive you can then refer them if they want.”

*At a professional society meeting for oncology nurses about genetic testing in physicians’ offices (which was sponsored and entirely moderated and organized by a genetics lab) one panelist held up an educational piece prepared by the sponsor and stated, “This is all you need to begin genetic testing in your practice.” That particular piece only discussed the genetic tests that were offered by that lab and had no discussion on other genetic tests or hereditary conditions which might have been equally or even more appropriate for patients.

*Recently I participated in a panel and listened in shock as one panel member representing a DTC genetic testing portal boasted of how her company gives patients access to genetic tests that were not recommended by their physician and which they provide outside of standard of care recommendations. It is unclear how a physician could interpret the off-label use of a test they didn’t think was medically necessary and how the patient might use such results to make medical decisions absent of any clear guidelines or supportive research.

*At the same panel discussion on direct-to-consumer testing, one genetics expert in the audience likened this scenario to the proverbial “fox guarding the henhouse.”

Government intervention and implementation of the following will help alleviate the problem:

*More oversight of and at least one agency with jurisdiction over genetic tests and how they are marketed to consumers and physicians. Consumer stakeholder input should be included if possible.

*Consumers need to know about and be given access to trained experts in genetics, and any published standard-of-care guidelines if available on the genetic condition in question. It should not be up to the laboratory to determine who is or is not competent to order and interpret genetic tests

*Laboratories need to be held accountable for their marketing materials for consumers and physicians with regards to genetic tests

*We need an agency to track adverse events with regards to genetic tests

It should not be up to the test developers to govern themselves or determine the appropriate amount of information, nor to designate the minimal competency for conveying this information.

Sue Friedman Executive Director of Facing Our Risk of Cancer Empowered Read more!

"In the Family" avalible online

You can view the full length documentary, In the Family, for free until 10/31/08. Click on the link below! http://www.pbs.org/pov/pov2008/inthefamily/fullfilm.html Read more!

Pre-implantation Genetic Diagnosis

Pre-implantation genetic diagnosis (PGD) is a technique used to identify a known familial genetic mutation in embryos created through in vitro fertilization (IVF) before transferring them into the uterus. Couples have the option of transferring only those embryos found not to carry the familial mutation for implantation, if they wish. PGD is performed in conjunction with IVF and is offered for both fertile and infertile couples. This New York Times article discusses one family who used this technology because of their family history of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). To read more, please click on the above light blue link. Read more!

Do all female BRCA mutation carriers have the same risk, or is more accurate to consider a risk range?

Most families with hereditary breast and ovarian cancer have a mutation in the BRCA1 (breast cancer-1) or BRCA2 (breast cancer-2) genes. As you know, genetic testing for mutations in these genes has only become clinically available within the past 15 years. For this reason we do not have a great deal of long-term prospective data on individuals who carry mutations in these genes and it is most accurate to present mutation carriers with a range of cancer risks To read more about this New York Times article please click on the above light blue link. Read more!

NY Times Explores Risk Factors for Hereditary Cancers

All cancers are genetic in origin. When genes are working properly, cell growth is tightly regulated, as if a stoplight told cells to divide only so many times and no more. A cancer occurs when something causes a mutation in the genes that limit cell growth or that repair DNA damage. Click on the above light blue link to read more. Read more!

Selling Women Fear Through Genetic Testing Advertisements

Myriad is pushing its “BRACAnalysis” genetic test in ads and describes the test as “A genetic test for hereditary breast and ovarian cancer.” However, genetic testing isn’t truly a test for breast and ovarian cancer, but a test for mutations in the BRCA1 and BRCA2 genes that are believed to be associated with some cases of breast and ovarian cancer. Myriad is attempting to convince women to be afraid of what lurks in their genes (understanding that many women are not knowledgeable about this topic), and to convince them to seek this expensive testing, ultimately benefiting Myriad’s bottom line. To read more click the above light blue link. Read more!

Two Women with BRCA Mutations- Two Different Decisions

Two women discuss their decisions of why/why not to have a bilateral mastectomy. Click on the above light blue link for the full article on MSN. Read more!

"In the Family" airs tonight

At 27, filmmaker Joanna Rudnick tested positive for a BRCA mutation. Armed with a positive test result she balances dreams of having her own children with the unnerving reality that she is risking her life by holding on to her fertility. IN THE FAMILY follows Joanna as she takes us on a journey through the world of predictive genetic testing.

The film will air on PBS on October 1, 2008 at 10:00 PM.

For more information about the film, please click on the above light blue link "In the Family" to be directed to the films website. Read more!

BRCA is my 4 letter word

Julia was diagnosed with breast cancer at age 42, pursued genetic counseling and testing and learned that she carries a BRCA mutation. Upon "prophylactic" oophorectomy, she was diagnosed with fallopian tube cancer. Read about more about her journey click on the above light blue link or visit her blog at: www.brcaismy4letterword.blogspot.com Read more!

Direct to Confusion: Lessons Learned from Marketing BRCA Testing

Authors: Ellen Matloff, Yale Cancer Center and Arthur Caplan, University of Pennsylvania

Myriad Genetics holds a patent on testing for the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, and therefore has a forced monopoly on this critical genetic test. Myriad launched a Direct-to-Consumer (DTC) marketing campaign in the Northeast United States in September 2007 and plans to expand that campaign to Florida and Texas in 2008. The ethics of Myriad's patent, forced monopoly and DTC campaign will be reviewed, as well as the impact of this situation on patient access and care, physician liability, and the future of DTC campaigns for genetic testing.

For the full article please click on the above light blue link or visit the June 2008 issue of The American Journal of Bioethics at:

http://www.informaworld.com/smpp/content~content=a901844382~db=all Read more!

Improving access to genetic testing: involving a genetic counselor can help

I applaud the recent attention given to hereditary cancer, including Jessica Queller’s outstanding book, Pretty Is What Changes; Joanna Rudnick’s upcoming BRACumentary, In the Family; and Christina Applegate’s announcement of her BRCA status. Increasing BRCA awareness encourages people to educate themselves about the topic, and subsequently more people are considering genetic testing. Unfortunately, their initial inquiries about testing are not always met with credible information.

Calls to our tollfree helpline increase in direct proportion to media reports about BRCA. Consequently we are experiencing more requests about financial assistance for genetic testing. Many of these calls are from individuals who have a family history of breast cancer and health insurance, but their insurance has denied covering genetic testing.

Ideally, people can often avoid insurance denials and high out-of-pocket costs related to testing by first meeting with a qualified expert in cancer genetics. When you consider the $3,000+ cost for “full-sequencing” BRCA 1 and BRCA 2 testing, where the entire gene is evaluated, it’s easy to understand why genetic testing is beyond the means of many people. However, under certain circumstances, a less extensive test may be more appropriate and can lower the price of testing by thousands of dollars. In other cases the choice of which member of the family receives genetic testing first can also affect cost and insurance coverage. Too often these helpline calls stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

A specially trained genetics expert will first assess an individual’s family medical history, determine which test is most appropriate, and identify which family member should be tested first. Seeing a health care provider specifically trained in cancer genetics—a genetic counselor—prior to genetic testing often makes the difference between having a test denied or covered by insurance. In fact, for people who meet specific National Comprehensive Cancer Network (NCCN) standard-of-care guidelines, many insurance companies, and even Medicare, will often pay for both genetic counseling and testing.

Until the cost of genetic testing goes down, for the uninsured, genetic testing usually remains out of reach, even for those who meet standard-of-care guidelines. Financial support is available, but limited. People who meet certain criteria and have annual income below the poverty level may qualify for testing under Myriad Genetics Laboratories financial assistance program. Another resource, the small nonprofit National Gene Test Fund, underwrites the cost for eligible people who can’t otherwise afford testing. Research studies involving genetic testing may also be an option for eligible individuals, although these studies are few and it may take months to get results. FORCE is compiling a searchable national database of medical facilities that offer free genetic counseling, testing and other services to individuals without insurance or whose insurance won’t cover the cost. If you work at such a facility, please register your resource here.

While the resources above are critical, they are not broad enough to reach most individuals who cannot access or afford genetic counseling and testing. Studies show that Hispanic, Black, and Asian Americans—people who are frequently medically underserved—are less likely than Caucasians to receive genetic counseling and testing.

And for the fortunate few who receive assistance for genetic counseling and testing, what then? Experts recommend annual mammograms and MRI for BRCA-positive women ideally beginning at age 25. What if women can’t pay for standard-of-care surveillance? One resource, the National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. As limited as the financial assistance resources are for genetic testing, even fewer provide MRI for high-risk women at any age or for mammograms beginning at 25. Like most disparity issues in health care, the needs are many and existing resources are few.

With these funding gaps in mind, I was ecstatic to hear that Christina Applegate intends to establish a foundation to provide financial assistance for genetic testing and MRI screening for high-risk women. Hopefully this will help close the disparity gap by improving access to genetic experts and standard-of-care surveillance for medically underserved high-risk women.

In the documentary, In The Family (which will air on PBS on October 1), producer and previvor Joanna Rudnick pointedly questions the high price tag on genetic testing. Discussions like this are an important step in order to address disparities in access to genetic technology.

Until the disparity and cost of testing issues are addressed, given that genetic testing is expensive, financial resources are limited, and not everyone has equal access to care, the best way to maximize the number of appropriate tests for both insured and underinsured people, is to involve genetic counseling with board-certified experts prior to the ordering of genetic tests.

Visit the FORCE website to find a genetics expert near you and learn more about available financial assistance for genetic testing.

Sue Friedman

FORCE President Read more!

September is Ovarian Cancer Awareness Month

The majority of ovarian cancers are not attributable to hereditary causes. However, ovarian cancer can be hereditary in some families. Some of the factors that increase the likelihood that cancers in a family are hereditary are: early onset of cancer, more than one primary (new) cancer in an individual, the same cancer in two or more close relatives, unusual presentation of cancer (breast cancer in a male), and related cancers (such as breast and ovarian cancer) found in the same family. Women of Ashkenazi Jewish ancestry are also at greater risk for hereditary breast and ovarian cancer. There are several genes linked to an increased risk of ovarian cancer. Two of the most common hereditary cancer syndromes associated with ovarian cancer risk are listed below:

Hereditary Breast and Ovarian Cancer Syndrome (BRCA1 and BRCA2)

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) sometimes called Lynch syndrome

Women diagnosed with ovarian cancer, particularly epithelial ovarian cancer, may wish to consider genetic counseling and testing. To find a genetic counselor closer to you please visit www.nsgc.org and click on the link on the left "find a counselor."

For more information about ovarian cancer please visit www.nlm.nih.gov/medlineplus/ovariancancer.html Read more!

BRCA in the News

To visit WTNH's segment on woman who learned that she carries a BRCA mutation click on the above light blue link: "BRCA in the News." Once you get to WTNH's website, click on the link for the video entitled "Genetic Counseling and Testing for Cancer Prevention." Read more!

What Does GINA Mean? A Guide to the Genetic Information Nondiscrimination Act

The Coalition for Genetic Fairness publicly announces a new online resource entitled “What Does GINA Mean? A Guide to the Genetic Information Nondiscrimination Act”. The tool provides a functional outline of GINA’s protections and how the legislation impacts every individual in the nation.

The guide also includes a history of the legislation, hypothetical situations of genetic discrimination, and key examples and definitions. The Coalition encourages individuals, organizations, and businesses to access the resource and develop those portions related to your work and area of expertise. The Coalition will gather these comments to enhance the tool for the overall benefit of public education on GINA and in preparation for the pending regulations.

For more information please click on the light blue link above "What Does GINA Mean? A Guide to the Genetic Information Nondiscrimination Act." This will direct you to the website for the Coalition for Genetic Fairness. Read more!

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!

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:

http://www.dnapolicy.org/resources/WhatGINAdoesanddoesnotdochart.pdf

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

http://thomas.loc.gov/cgi-bin/bdquery/z?d110:h.r.00493:

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 www.yalecancercenter.org/genetics 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

http://www.facingourrisk.org Read more!

A Guide to Genetic Testing with Ellen Matloff, MS

Read more!

Who We Are: The Truth About DNA

Read more!

Are You a Candidate for Cancer Genetic Counseling?

The following are guidlines for individuals to consider genetic counseling and testing.

If you have a family history of BREAST/OVARIAN CANCER.....

If you have a family history of COLON/UTERINE Cancer.....

BREAST/OVARIAN CANCER

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.

COLON CANCER

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

• Colon cancer diagnosed before age 50.

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

• The combination of colon, uterine, ovarian, urinary tract, and/or other gastrointestinal cancers on the same side of the family.

• A single individual with colon and uterine cancer, more than one separate colon cancer diagnosis, or colon and ovarian cancer.

• Even one sebaceous carcinoma.

• A colon cancer in which screening tests (called microsatellite instability (MSI) and/or immunohistochemistry (IHC)) have indicated an increased risk for hereditary colon cancer.

• Multiple colon polyps (adenomatous, hamartomatous, or juvenile).

Read more!

Gynecologic Surgical Decision-Making

It has been well established that women who carry mutations in BRCA1 or BRCA2 have a high lifetime risk of developing ovarian cancer. The lifetime risk for a mutation carrier to develop ovarian cancer ranges from 15-60%, depending on the population studied; however, even the lowest end of this range is much greater than the population risk of 1-2%. Ovarian cancer is very difficult to detect at an early, treatable stage (even when using CA-125 and transvaginal ultrasounds)1. Therefore, it is recommended that women who carry BRCA mutations consider having their ovaries and fallopian tubes removed by the time they are forty, when they are done having children or 10 years before the first ovarian cancer diagnosis in their family, which ever occurs first2. BRCA carriers are at risk for ovarian cancers, and cancers of the fallopian tube and peritoneum (a thin membrane that lines the abdominal cavity). Therefore all BRCA carriers who opt for prophylactic surgery should have their ovaries AND fallopian tubes removed (bilateral salpingo-oophorectomy = BSO)3 and examined using rigorous operative and pathologic guidelines4. In women whose pathology comes back normal, this surgery reduces the risk of ovarian and fallopian tube cancers by >90%. It also significantly reduces the future risk of breast cancer, particularly in young women who have the surgery before they go through menopause5-6. The use of hormone replacement therapy (HRT) in healthy pre-menopausal BRCA carriers who have their ovaries removed is somewhat controversial because of the risk that these hormones may increase the risk of breast cancer. A recent study of 462 BRCA carriers compared the rate of breast cancer in women who had their ovaries removed and took HRT to women in the group who never had their ovaries removed and had never taken HRT. Women who had their ovaries removed and took HRT had approximately a third of the risk to develop breast cancer as compared to women who did not have their ovaries removed7. Therefore, short-term HRT does not appear to diminish the protective effects of ovary removal in BRCA carriers and should be considered in young women with no previous history of cancer who carry BRCA mutations and are considering having their ovaries removed. There has also been debate about whether BRCA carriers are also at risk for endometrial cancer, and should therefore be offered total abdominal hysterectomies (TAH) as the minimum prophylactic procedure. The risk of Uterine Serous Papillary Carcinoma (USPC) is of special concern because it is pathologically similar to both peritoneal and ovarian serous malignancies and is very aggressive. A few case reports have shown that BRCA1 carriers have had USPC8. However, a study of Jewish women with endometrial cancer (including 17 cases of USPC) did not show an excess of BRCA mutations9. In a separate study of 56 non-Jewish women diagnosed with USPC, none (0/56) were found to carry a BRCA mutation10. These studies have not demonstrated that serous cancer of the endometrium is more common in BRCA mutation carriers. If a causal relationship does exist between BRCA mutations and endometrial cancer, the penetrance for endometrial cancer appears to be low and is not significantly elevated over that of the general population11. Some have argued that BSO alone may leave at-risk stumps of fallopian tube that are still attached to the wall of the uterus. However, the histology of this segment of the fallopian tube is distinct from the remainder of the tube12. The largest clinicalpathologic study of fallopian tube cancers suggests that the vast majority (92%) of fallopian tube cancers originate at the distal (closer to the ovary) or mid-portion of the tube13. Furthermore, there has never been a reported case of fallopian tube cancer arising from the residual segment of the fallopian tube in the uterus and BSO alone has been shown to significantly reduce the risk of ovarian and fallopian tube cancers. Therefore, it is therefore premature to offer total abdominal hysterectomy as the only prophylactic surgical choice for BRCA carriers. Ultimately, the patient must decide whether she wants BSO or TAH-BSO. Some important points to consider and discuss with your physician: -Do you have any other indication for TAH (e.g. fibroids, endometriosis)? -You may be a candidate for hormone replacement therapy, particularly if you have not had breast cancer. If you have your uterus removed you may be a candidate for estrogen alone (instead of combined with progestin). Estrogen alone may be associated with a lower risk of subsequent breast cancer than combined hormone replacement therapy. -Tamoxifen is associated with a small, but increased risk of uterine cancer (<1%). -BSO is a smaller surgery than TAH-BSO. It is usually done laparoscopically and is an outpatient procedure. TAH-BSO generally requires hospitalization and is associated with a longer recovery time than BSO. TAH-BSO is also associated with more complications. Please speak to your physician about the risks/benefits of each procedure (including possible sexual and urinary side effects). -Studies have shown that BSO, alone, significantly reduces the risk of ovarian and breast cancer in BRCA carriers. -There is little evidence to suggest that removal of the uterus to prevent uterine or fallopian tube cancer is indicated at the time of prophylactic BSO. References 1. Stirling D. et al. J Clin Oncol 2005; 23(24): 5588-96. 2. Rebbeck TR. J Clin Oncol 2000; 18(21):100S-3S. 3. Aziz S. et al. Gyn Oncol 2001; 80:341-5. 4. Powel CB. et al. J Clin Oncol 2005; 23(1):127-32. 5. Rebbeck TR. et al. N Engl J Med; 346(21):1616-22. 6. Kauff ND. et al. N Engl J Med; 346(21):1609-15. 7. Rebbeck TR. et al. J Clin Oncol 2005; 23(31):7804-10. 8. Hornreich G. et al. Gyn Oncol 1999;75:300-4. 9. Levine DA. et al. Gyn Oncol 2001;80:395-8. 10. Goshen R. et al. Gyn Oncol 2000;79: 477-81. 11. Boyd J. Gyn Oncol 2001; 80:337-40. 12. Levine DA. et al. J Clin Oncol 2003;21(22):4222-7. 13. Alvarado-Cabrero I. et al. Gyn Oncol 1999;72:367-79. 14. Kauff ND. et al. J Clin Oncol. 2007;25(20):2921-7. Read more!

Hereditary Breast and Ovarian Cancer Factsheet

Genetics of Hereditary Breast and Ovarian Cancer

The majority of cancer cases are not attributable to hereditary causes. However, cancer can be hereditary in some families There are many factors that can increase the probability that the cancers in a family may be hereditary. Some of these factors are: early onset of cancer, more than one primary (new) cancer in an individual, the same cancer in two or more close relatives on the same side of the family, unusual presentation of cancer (breast cancer in a male), and related cancers (such as breast and ovarian cancer) found in the same family. Women of Ashkenazi Jewish ancestry are also at greater risk for hereditary breast and ovarian cancer.

Several gene changes (mutations) have been discovered which predispose individuals to breast and ovarian cancer. In review, the genetic instructions for our bodies are stored in our cells in tiny structures called chromosomes. A normal individual has 23 pairs of chromosomes: one chromosome from each pair is normally inherited from the mother, and the other from the father.

One of the genes involved in hereditary breast and ovarian cancer is located on chromosome #17. This gene is called BRCA1 (breast cancer-1) and mutations in this gene are responsible for some cases of hereditary breast and/or ovarian cancer. A second gene, BRCA2 (breast cancer-2), has been found on chromosome #13. Mutations in this gene are responsible for some cases of hereditary breast cancer, and a smaller percentage of hereditary breast and ovarian cancer.

Both of these genes are passed down in families in a pattern called autosomal dominant. This means that a parent who carries the gene has a 50% chance of passing the gene on to each of their children. It also means that if a person carries such a mutation, their siblings have a 50% chance to carry the mutation.

Genetic testing for mutations in BRCA1 and BRCA2 has become clinically available within the past 15 years. The available data suggests that women who carry mutations in the BRCA genes have between a 55-85% risk to develop breast cancer, and as great as a 15-60% risk to develop ovarian cancer (this includes cancer of the fallopian tubes) by the time they are 70 years of age. These figures are significantly higher than the 12-13% lifetime risk for breast cancer and the 1-2% lifetime risk for ovarian cancer in the general population. Carriers also have a greater chance of developing second primary cancers. Males who carry BRCA1 mutations have a slightly increased risk for prostate cancer. Individuals who carry BRCA2 mutations are at increased risk to develop male breast cancer and prostate cancer, and have a slightly increased risk to develop pancreatic cancer and perhaps melanoma.

Individuals who learn they have a BRCA1 or BRCA2 mutation are offered special surveillance and risk reduction options. Read more!