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Genetic Testing: When To Go, What To Know
WDI newsletter Summer 2008
RIDGEWOOD, New Jersey — Every year, nearly 192,000 women worldwide are diagnosed with breast or ovarian cancer. Over 10 percent of these women carry an inherited mutation of the BRCA1 and BRCA2 genes, which control cell growth. Women with the mutated gene are 3 to 7 times more likely than average to develop breast or ovarian cancer before menopause. A simple blood test can help you find out if you carry the mutation.
Genetic testing is pretty straightforward, but the non-stop media hype about testing has given rise to many misconceptions. For instance, that a positive result either means you have cancer, or guaranteed that someday you will. Both are untrue. The test can only determine if you have a high risk of cancer or not.
The media also suggests that all women need testing. Also untrue. Women with no personal or family history of premenopausal breast or ovarian cancer have little chance of inheriting a mutated gene, and rarely require testing.
So who should be tested? In families with a history of cancer, the first person who should be tested is the “affected” family member, the one with cancer. Her results will determine if the entire family needs testing or not: If the “affected” family member tests positive—the rest of the family should be tested. Other family members who test positive have a greater-than-average cancer risk, and should consult a doctor specializing in high-risk patients about early detection (e.g., mammography, MRI, and breast ultrasound), and prevention (e.g., medication, prophylactic mastectomy, or oopherectomy (removal of the ovaries).
When the “affected” relative is positive and you test negative, although the genes are present in your family, your cancer risk is no greater than average. Keep in mind that this doesn’t mean you’re “immune,” and undergo regularly scheduled mammography, sonogram, and clinical- and self-examinations.
So what happens if the “affected” relative tests negative? While you and your relatives probably don’t need testing, the rest depends on your family. Imaging Quarterly. Without question, women today have more access to information about their personal health than ever before. But much of it lacks the authenticity of a genuine conversation between a physician and her patient.
A negative result in a family without a history of premenopausal breast or ovarian cancer, your risk is no greater than average.
With a family history, however, though the negative result rules out BRCA1 and BRCA2 mutations, you need to be concerned that the source of cancer is a yet-to-be-discovered mutation. Testing is not necessary, but the risk is still there and the surveillance measures listed above are essential.
Unfortunately, people who do need a genetic test refuse to go due to concerns about job security, or losing health insurance. Until recently, these fears were justified. Sweeping legislation in 1996 and 2000 did limit unauthorized access to medical records. But lawmakers did little to prevent discrimination based on a genetic predisposition to disease or illness.
In May 2008, however, the House and Senate approved a bill that prevent the use of genetic test results as a basis to reject job applicants, deny health coverage, or set insurance premiums.
Talk to your healthcare provider about genetic testing. Knowing when to go and what to know may save your life, and the lives of members of your family.
QUICK TIP
Checking bone density in your 20s or 30s gives you a chance build bone mass if results show that you have not reached “peak bone mass.” At the very least, have a bone density test in your 40s to establish a baseline BEFORE menopause.
Women’s Health Imaging Quarterly is published four times a year by Women’s Digital Imaging of Ridgewood, New Jersey, a private practice led by Dr. Lisa Weinstock, specializing in detecting and diagnosing conditions such as breast cancer, gynecologic diseases and osteoporosis. WDI offers a comfortable, private environment, the accuracy of the most advanced diagnostic instruments, and exceptional care from compassionate, highly qualified female doctors.
© Copyright 2008 Women’s Digital Imaging of Ridgewood, New Jersey, All Rights Reserved
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