7 February 2017

A research letter recently published in the Journal of the American Medical Association found that patients diagnosed with breast cancer were not appropriately referred for genetic counseling and testing.

The researchers used the SEER Registry to study the records of patients diagnosed between July 2013 – September 2014. Registry patients in the state of Georgia and Los Angeles County were mailed surveys which asked about their genetic counseling and testing experiences. Of the 2529 women who responded to the survey, 773 were considered to be high risk, in accordance with national guidelines. Of these high risk patients, only 39.6% reported having a genetic counseling session and only 52.9% had a genetic test. High risk patients reported lack of physician recommendation, not expense, as primary reason for not testing.

The authors noted that the lack of genetic testing in these patients was a missed opportunity to prevent ovarian and other cancer deaths among mutation carriers and their families. They concluded that the need for genetic testing may not be recognized by physicians, and they recommended that steps be taken to improve physician assessment of risk, assessment of patient desire for testing, and to optimize genetic counselor referral.

Limitations fo the study include that it was a retrospective (after the fact) survey. Patients may have received a recommendation for genetic testing but did not remember – this is often covered during the initial consultation which is a time of intense emotion. The study also only assessed patients from a limited geographic area – the state of Georgia and Los Angeles county. Despite these limitations, the study confirms others like it that demonstrate underutilization of genetic testing.

BRCA 1 and 2 genes are known as tumor suppressor genes, which code for proteins that repair DNA damage. When mutated, DNA damage cannot be repaired, and these patients are at high risk for developing breast, ovarian, and other cancers. Patients who have no signs of cancer may consider prophylactic surgery (made “famous” by Angelina Jolie). In these patients, prophylactic surgery can significantly reduce the risk of developing cancer. In patients who have already been diagnosed breast cancer and are found to carry a BRCA mutation, bilateral mastectomy is often recommended due to the high likelihood of developing another breast cancer, especially in BRCA 1 mutation carriers.

Guidelines for testing have changed over the years. If you were diagnosed with breast cancer several years ago, did not undergo testing, but currently meet one of the criteria for testing, discuss this with your physician. While you may not want to have any additional surgery, you may meet criteria for more intensive surveillance such as with MRI. In addition, test results coud have implications for other family members.

For more information:
FORCE – Facing our Risk of Cancer Empowered
National Cancer Institute – BRCA 1 and 2 Testing

26 April 2016

A growing number of states have enacted so-called “dense breast” legislation – requirements that radiology facilities inform patients if they have dense breast tissue, which may limit the sensitivity of mammography.

A study published in the Journal of the American Medical Association evaluated the dense breast legislation for 23 states who have these requirements. They evaluated the content, readability, and understandability of the dense breast notification. The authors found that the readability of these notices was at the high school level or above, and many notices had poor understandability. Also concerning was the fact that many notifications lacked concordance with the states’ average literacy.

Unless women (and their physicians) can make sense of the notifications, they are worthless. Research studies generally recommend that informed consents and study descriptions be presented to patients at a 6th-8th grade reading level, but these standards do not exist for other patient information.

It is important for patients to ask if there is anything about their medical test results or instructions that they do not understand.

1 March 2013

A study published in JAMA found that there is an increase in the incidence of young women (age 25-39) diagnosed with metastatic breast cancer. Metastatic breast cancer means that the cancer has already spread outside of the breast, most commonly to the lungs, liver, bone, and brain. Metastatic breast cancer is not curable, although newer treatments have improved the survival rates.

This study evaluated the SEER Database from 1973-2009. They found that while the incidence of breast cancer in young women is low, young women are more likely to have metastatic disease when first diagnosed. One criticism of the study is that we did not have the ability to detect metastatic disease in the 1970’s like we do today. So a woman diagnosed in the 1970’s might have been thought to have earlier stage disease, when in reality the cancer was already present in other areas of the body. Today, we are more likely to use a combination of blood tests and imaging scans to get better idea of the cancer stage – metastatic disease is considered Stage IV.

The following interview discussed some of the limitations of the study, as well as recommendations for young women. All women should be aware of their breasts and their bodies. While breast cancer is not common in young women, it certainly does occur. Any changes should be reported to your physician.

The Young Survival Coalition is an excellent resource and support organization for young men and women diagnosed with breast cancer, as well as their caregivers and support team.