Research Reveals Many Women Do Not Follow Through with Recommended Genetic Testing

An August 28, 2017 UCLA research report revealed that most of the women in the study did not undertake the recommended genetic testing. All study participants had a history of breast and/or ovarian cancer.

To better understand the importance of this finding, some basic information is needed: A gene is the unit of heredity that carries on family traits from generation to generation. The hereditary material in genes is called DNA, which instructs the body to make proteins. During pregnancy, when a human egg and sperm unite, DNA from both parents come together. If the DNA is altered in any way (mutated), that affected gene also becomes a part of each cell.

As per a research report from UCLA published in 2017, it was revealed that a majority of the women who were part of the school’s study did not get recommended genetic testing, and most of the participants were known to have a history of ovarian and/or breast cancer.

A gene is essentially a unit of heredity that carries on the traits of the family from one generation to another. This kind of hereditary material is known as DNA. One of the leading risk factors for getting ovarian or breast cancer is due to the presence of BRCA1 and BRCA2, which can be inherited. These are known to produce tumor-suppression proteins. When there is an alteration of any of these BRCAs, the protein production becomes abnormal and leads to the cessation of normal DNA. The cells that become affected start to grow out of control, leading to cancer development. The women who would benefit the most from this kind of genetic testing are those who had ovarian cancer, and those who had breast cancer with various other criteria. From this test, it was observed that of the 0.4 percent of women who had ovarian cancer, just 10.5 were genetically tested, and of the 2.7 percent of women who had breast cancer, only 15 percent of them had gone for genetic testing. The study concluded that most of the women did not receive any vital data which could help them in terms of cancer prevention as well as detection on an earlier basis, which would be better for them as well as their family. So, there is a great need for genetic testing across the country. There was also the concern that, if this genetic testing is not completed, women in turn would be putting their entire families at risk of inheriting a defective gene. The researchers also examined why there has been such a huge disparity in the number of women getting tested. It is said that at times, the patient changes multiple doctors and the new doctor is not very aware of the patient’s cancer history. It was also seen that about 80 percent of the women had not carried out their genetic testing, and they had not even talked about it with their doctor. According to certain statistics, at least two million women are known to be at a higher risk of carrying this specific genetic mutation, which can increase the risk for their family members developing cancer later in life. It has been determined that women who have the genetic mutation should be properly advised to explore all options for reducing this risk of cancer as well as to undergo screenings, take proper medications, and bring about changes in their lifestyle so as not to pass it on.