A Video Story of a 'Previvor'

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

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!