by Dr. Hsien-Hsien Lei
Posted July 12, 2007 in DNA Testing, DNA and Disease
Is medical genetic testing worth the ordeal if there is no cure or 100% effective prevention? From what I’ve observed in discussions online, these are some general attitudes towards genetic testing along with my responses in italics in the context of breast cancer:
- Why take a genetic test if there’s nothing you can do: no prevention, no cure, nothing but waiting for fate to make its move.
People who have a family history of breast cancer or test positive for a BRCA mutation can still choose to live a healthier lifestyle (quit smoking!), undergo surgical interventions (mastectomy or oophorectomy), go in for more vigilant screening, and make better decisions about treatments if they are ever diagnosed.
- The test is worthless because it doesn’t mean that you will definitely develop the disease if you carry the gene variant.
Few things in life are 100%. It’s important to assess how much a gene mutation increases the risk of a particular disease compared to your risk without the gene mutation. Then you must weigh that against what you personally find acceptable. Carriers of the BRCA1 and BRCA2 mutations have a 3 to 7 times higher risk of developing breast cancer than people who do not have the mutation. Should these statistics be cause for concern when we are susceptible to a whole slew of other diseases and negative life events simply by being alive? I say yes but others might say no.
- A negative test result is still no guarantee you won’t get the disease later.
Yes, and a positive test result is also no guarantee you will get the disease. But it might spur you on to live a healthier life, make better healthcare decisions, stop putting off writing that will, and make other preparations just in case any other calamities befall us in our short lives.
- Regular screening for cancer and heart disease, for example, is more than enough.
While regular screening is always good. The current recommendation for breast cancer early detection is for women 40 and over to be screened every year. However, those at a higher risk of breast cancer should be screened more carefully and thoroughly, perhaps including an MRI.
- Having a positive result will only increase your anxiety and cause you to live every day in fear.
This really depends on the individual. Some are glad to have more information while others are not. Don’t let other less-informed people tell you what you should do. Make your own decisions based on careful thought and research. This list of Pros & Cons of Testing @ DNA Direct.com* may help.
Please don’t get me wrong. BRCA genetic testing is no panacea. An Israeli restrospective study published today in the New England Journal of Medicine found that “breast cancerâ€“specific rates of death among Israeli women are similar for carriers of a BRCA founder mutation and noncarriers.” In other words, BRCA mutations may not affect a breast cancer patient’s prognosis. (Medical News Today)
But I’m not taking the study at face value. I’m wondering: How does breast cancer care in Israel differ from the US? Is BRCA testing routine? If so, what are the options offered to women who test positive? How many of these women knew of their carrier status and used the information to make healthcare decisions either prior to being diagnosed or after?
Just as I’ve done here, when deciding whether genetic testing is right for you, do your research and ask questions. Look at everything critically and make the choice that’s right for you and not for anyone else, even if they are family members.
*I am a consultant for DNA Direct.
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