Women with a medical history of breast or ovarian cancer often fail to test for inherited genetic changes

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Aug 21 2017

A new study conducted by the UCLA Fielding School of Public Health, states that among nearly 4 million women in the United States who possess a medical history of ovarian cancer or breast cancer, 1.5 million have an increased risk of bearing some kinds of genetic mutations, which might increase the probability of causing additional cancers in the future.

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According to the study, over 80% of those women – even though a simple saliva or blood test is enough to identify the mutations that affect the BRCA1 and BRCA2 genes – are found to have not taken the test or even discussed the issue with a health care professional.

Identifying a mutation is often important for surgical decision-making and cancer therapy, but its importance extends further than that.”
Dr. Christopher Childers, a resident physician at UCLA and lead author of the study

He added that if they are aware that they have these mutations, these individuals might be able to take steps which include undergoing specialized screenings frequently, taking preventive medications and risk reducing surgery, or make changes in their lifestyles (like improving diet, exercise habits, or stopping smoking) in order to decrease the future risk of cancer.

Since mid-1990s, tests have been available to identify BRCA1 and BRCA2 mutations, which remain as the major risk factor for inherited ovarian as well as breast cancer even today. However, scientists have now identified that mutations in a few other genes can also increase the risk of both the cancers and contemporary genetic tests can detect these mutations.

In the study, data from the National Health Interview Surveys of 2005, 2010 and 2015carried out by the Centers for Disease Control and Prevention, were analyzed by the researchers.

From this, they identified five criteria to find out which group would benefit most from the tests. Those who were expected to benefit more, were women who had ovarian cancer, and women also who had breast cancer if: (1) diagnosed before or at the age of 45, (2) diagnosed before or at the age of 50 and has a daughter/sister/mother with a history of breast cancer, (3) they have a daughter/sister/mother who had breast cancer prior to or at the age of 50, (4) they have a daughter/sister/mother with a history of ovarian cancer.

Among the 47,218 women, who participated in the survey, 2.7% were reported with a history of breast cancer. While considering those participants who met at least one of the above four criteria, 29% had discussed the genetic test with a health care provider; 20.2% were advised to take the test and only 15.3% had undergone it.

Also, among the 0.4% women with a medical history of ovarian cancer, 15.1% were identified to have discussed the genetic test with a health care provider; 13.1% of them were asked to take the test, whereas, only 10.5% underwent the same.

With the help of these resultant data, the researchers estimated that a 1.2 million – 1.3 million women in the U.S who were likely to benefit from the rest had not taken it.

According to Kimberly Childers, a co-author of the study, several women in the country are not receiving needed information which might aid in the early detection as well as prevention of cancer in their family and themselves.

For the lesser number of women who had undergone the test, the study suggests the change in the NCCN guidelines over years, as well as the lack in the number of genetic counselors who are board-certified and are specialized in cancer testing as some reasons. Also, the uneven distribution of specialists across the country and the tendency of women to change their doctors (which keeps the new physicians unaware of the patient history) are considered as causes for the same.

However, the study had a few limitations such as, the nature of the data which was self-reported and unverified by medical records, as well as the chance for the participants to inaccurately recollect matters like whether they had discussed the test or had taken it.