Assess BRCA risk in women with family history: panel

NEW YORK Mon Dec 23, 2013 5:12pm EST

Related Topics

NEW YORK (Reuters Health) - Women with a family history of breast or ovarian cancer should be assessed to see if those cancers could be linked to certain mutations, according to new recommendations.

Only if the assessments suggest a possible connection should women get genetic counseling and - if warranted - be tested for BRCA mutations, the U.S. Preventive Services Task Force (USPSTF) confirmed today.

The panel's final recommendation largely mirrors draft guidelines released earlier this year (see Reuters Health story of April 2, 2013 here:

"The first thing to understand is the vast majority of women will not need this testing and will not benefit from it," Dr. Douglas K. Owens said.

Owens is a member of the USPSTF as well as a professor at Stanford University and senior investigator at the VA Palo Alto Health Care System in California.

"We're talking about a small group of women that have a family history that suggests there may be a risk of BRCA mutations," he told Reuters Health.

One in 300 to one in 500 women has a so-called BRCA mutation - a version of a gene with small changes in it that heighten the risk of developing cancer. Depending on their specific gene changes, those women have up to a 65 percent chance of getting breast cancer by age 70 and up to a 39 percent chance of getting ovarian cancer.

Women who test positive for the mutations may take medication to reduce their risk of cancer or have their breasts and ovaries removed. They can also opt for intensive cancer screening - although how well that prevents advanced disease and death is unknown.

The recommendations are based on a new review of the current evidence on testing and counseling for BRCA mutations. Both are published in the Annals of Internal Medicine.

SOURCE: Annals of Internal Medicine, online December 23, 2013.

We welcome comments that advance the story through relevant opinion, anecdotes, links and data. If you see a comment that you believe is irrelevant or inappropriate, you can flag it to our editors by using the report abuse links. Views expressed in the comments do not represent those of Reuters. For more information on our comment policy, see
Comments (1)
FloridaForce wrote:
The USPSTF is confusing genetic testing and genetic counseling. The genetic counselor has the knowledge base to decipher with expertise the next step for the patient–which very well could be nothing. But that is for them to decide. Primary care doctors are not routinely implementing or trained in evidence based decision making for genetic testing or counseling. Jolie “started the conversation” and planted the seed which has allowed patients to bring concerns of a genetically inherited cancer risk to their doctors. The reality is that the genetics of cancer is evolving constantly and highly patient specific. Just like any other medical illness–a specialist, like a genetic counselor can evaluate a patient, determine their risk from the best available knowledge, and determine who should proceed to the next step of genetic testing. For a heart problem–you go to a cardiologist, for a nerve problem you go to a neurologist…why for a possible genetic defect would the need for a specialist be any different? I am not endorsing genetic testing for everyone. But I am endorsing genetic counseling to accurately assess a patient’s risk. Primary care doctors are not trained nor do they have the time to accurately assess a patient’s genetically linked risk for cancer. It is not their area of expertise.

Dr. Moyer and USPSTF Task Force. as a BRCA advocate I am in the trenches with people who are both concerned about and affected by hereditary cancer and/or elevated cancer risk. I provide face to face support plus online information and support.

A better recommendation from The U.S. Preventive Services Task Force USPSTF would have been the following:
Doctors please refer all patients (including patients who are cancer survivors) concerned about BRCA mutations and cancer genetics to a certified genetic counselor. Please do not disregard their concerns as those concerns may be valid. Your patient may very well have a high risk for cancer due to a genetic mutation, family history, or other factors in which you are not familiar or trained to decipher. If your patient had concern about heart disease you would refer him or her to a cardiologist. Please follow suit in regards to genetics. Please refer patients who are concerned about cancer risk to a certified genetic counselor.

Thank you for reconsidering your position.

Best Regards ,
Amy Byer Shainman BRCA Advocate @FloridaForce

Dec 30, 2013 12:41am EST  --  Report as abuse
This discussion is now closed. We welcome comments on our articles for a limited period after their publication.