Genetic screenings for mutations of BRCA, a gene with strong connections to development of breast cancer, is an important step in improving awareness of physical health and personal cancer risk. Prior to testing, however, recent reports have shown that only about one third of women seek genetic counseling by their health professionals.
Counseling is used to educate testers of the variations of BRCA and the results their tests could potentially show. While some high-profile celebrities have helped increase understanding of some of the dangers of BRCA mutations, many testers may not be sure what the test is intended to detect.
A recent study in the journal JAMA Oncology has shown that patients who had received counseling prior to testing entered with greater knowledge of the testing process. More importantly, however, they also reported higher levels of comfort with the idea of testing, which may have otherwise been somewhat stressful.
The U.S National Cancer Institute has suggested that approximately 12% of women develop breast cancer by age 70. When looking specifically at those who have inherited specific BRCA mutations, however, the percentage jumps significantly. Women with a BRCA1 mutation have a 55-to-65% chance of developing breast cancer, while women with a BRCA2 mutation have a 45% chance.
With such high numbers, the U.S. Preventative Services Task Force has begun to strongly suggest genetic testing and counseling for BRCA mutations and other breast cancer risks. Such procedures are therefore entirely covered by all insurers operating under the Affordable Care Act.
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A 2012 survey by Aetna found that heredity may not always play a factor in genetic mutations for women who were ordered to undergo BRCA testing. Of survey responders, more than 50% reported no family history of breast cancer. While family history does seem to influence BRCA mutations in many cases, it appears that the gene may also mutate without a genetic predisposition.
Additionally, 37% of survey respondents noted that they had received genetic counseling prior to testing. However, a strong majority of women did not receive this service. In such cases, respondents generally noted that they did not pursue counseling because their doctor had not recommended it.
If a BRCA test is positive, afflicted women can choose to have their breasts removed as a precaution. Other women may opt to undergo regular screening in order to detect cancerous growths.
Genetic counseling is not without its doubters, however. Some experts believe that genetic counseling is unnecessary prior to testing, particularly since tests may very well not show any BRCA mutations. These experts generally prefer the idea of saving testing until after a BRCA mutation is confirmed, so that women who had tested positive might gain a better understanding of what this result means and what their options are.
For many women, however, genetic counseling can give them the confidence to enter into testing with a clear sense of what they will experience and why. It can also greatly enhance general public understanding of the genetic factors that may play a role in breast cancer development. While the test may come up negative, surveys suggest that awareness of the process and other possible outcomes can still be beneficial.
