Friday, September 26, 2008

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: Read more!

Monday, September 22, 2008

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: 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!

Thursday, September 11, 2008

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 and click on the link on the left "find a counselor."

For more information about ovarian cancer please visit Read more!

Tuesday, September 9, 2008

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!