Cancer Expert Recommends Genetic Testing for All Women Over 30
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Should you get genetically tested for breast and ovarian cancer? Right now the medical community recommends it only for women who have a family history of the cancer. But that philosophy could change now that one of cancer’s leading experts, Mary-Claire King, has revised her opinion on screening. “Based on our 20 years’ experience working with families with cancer-predisposing mutations in BRCA1 and BRCA2, it is time to offer genetic screening of these genes to every woman, at about age 30, in the course of routine medical care,” King wrote in the Journal of the American Medical Association on Monday. “Women with cancer-predisposing mutations in BRCA1 and BRCA2 are a high-risk group in whom special screening and counseling can be focused.”
King, who discovered BRCA1 and who just won the prestigious Albert and Mary Lasker Foundation Award, added, “To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.”
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King came to her conclusion after studying Ashkenazi Jewish men and women living in Israel, a population at higher risk of BRCA1 and BRCA2 mutations.
Her recommendations go against those of the medical establishment, however. “It’s premature to recommend that every woman in the U.S. be tested,” Joy Larsen Haidle, president-elect of the National Society of Genetic Counselors, told Yahoo Health. “The medical system is not ready to handle the volume of patients [seeking the test].” While she agreed with the importance of genetic testing, she was hesitant to recommend the test to all women. The test, which ranges from $2,000 to $4,000 — a cost that must often be paid out of pocket — analyzes a person’s DNA from a blood or saliva sample; results can take up to a month to be reported.
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Michael Watson, executive director of the American College of Medical Genetics and Genomics, told Yahoo Health he agreed with Haidle. “We have significant healthcare access issues,” he said. “You have to examine the cost effectiveness [of such a procedure].”
King acknowledged in her report that wide screening of these genes will require “significant efforts to educate the public and to develop new counseling strategies, but this investment will both save women’s lives and provide a model for other public health programs.”
According to the Centers for Disease Control and Prevention, 20,593 women in the U.S. were diagnosed with ovarian cancer in 2011 (the most recent numbers available). More than 14,300 women died from ovarian cancer in 2011. Breast cancer afflicts both men and women – 220,097 women and 2,078 men in the U.S. were diagnosed with breast cancer in 2011 and 40,931 women and 443 men died from the disease that same year.
BRCA1 and BRCA2 are independent genes that both cause breast and ovarian cancers, yet at different rates, Watson explained. Women who inherit a harmful mutation of the BRCA1 gene have a 55 to 65 percent chance of developing breast cancer before the age of 70, versus 45 percent who inherit a mutated form of BRCA2, according to the National Cancer Institute. As for ovarian cancer, 39 percent of women who are born with a mutated BRCA1 gene will develop the disease by age 70, as compared to 11 to 17 percent for women with a mutated BRCA2 gene. Women can also be born with both a mutated BRCA1 and BRCA2 gene.
By comparison, nearly 12 percent of women in the general population will develop breast cancer and 1.4 percent of women in the general population will develop ovarian cancer. The NCI calls BRCA1 and BRCA2 gene mutations “relatively rare in the general population.”
Haidle said the medical community does not know why genes become mutated but noted that the mutations are often “in families for generations.” Genetic counselors will test for mutations in BRCA1 and BRCA2 concurrently, and Haidle advised individuals to ask for the testing of other genes such as PALB2 that have also been linked to breast and ovarian cancers.
Angelina Jolie famously revealed in 2013 that she had a double mastectomy because she was at high-risk (87 percent) for developing breast cancer, and her preventative decision put the option on the map for many women, even kick starting what some referred to as “the Angelina Jolie effect.” But, Haidle pointed out, there are less drastic options for women who receive a positive BRCA1 or BRCA2 gene mutation test. For example, young women can increase the number of times they have mammograms and MRIs each year — although the NCI does warn that “women who carry BRCA1 and BRCA2 mutations may be more likely to develop radiation-associated breast cancer than women in the general population because those genes are involved in the repair of DNA break, which can be caused by exposure to radiation.”
Bottom line? “It all depends on what stage you are in your life when you receive the testing info,” Haidle said. “There’s no one-size-fits-all answer. These decisions impact body image and self esteem.”
