THE BLOG

Unlocking the Code

06/26/2013 05:24 pm ET | Updated Aug 26, 2013

I was building my medical practice when the breast cancer gene mutations were discovered. My family, Ashkenazi Jews with a history of breast and ovarian cancer, was one of the first to take advantage of genetic testing years ago. We felt indebted to all of the scientists who contributed incrementally to the discovery of the mutations to the BRCA1 and BRCA2 genes, as well as to the scientists at Myriad Genetics who were the first to nail the "secret code" -- thereby securing the patent and developing the gene test that has allowed so many women to decide on a course of action to help protect their lives.

With the answers provided by these tests, members of my family with a BRCA2 mutation were able to take immediate steps to lower their risk of breast and ovarian cancer. My relatives without the gene mutation were able to avoid drastic measures. Genetic test results have also helped my patients make the smartest treatment choices and utilize the best follow-up surveillance options. And knowledge of my own personal genetic make-up guided my treatment decisions after my own breast cancer diagnosis.

Unlocking this genetic code brought new hope to a field of sluggish discovery for which many patients, myself included, feel tremendous gratitude. But we are also deeply grateful for the recent Supreme Court decision declaring that human genes cannot be patented. This ruling is a major victory for science and patients since these genes will now be available to researchers who can learn more about them and to companies that can develop additional diagnostic products. By removing this huge hurdle to progress, it will fuel new advances in breast cancer risk assessment, diagnosis, and personalized prevention and treatment -- discoveries that are desperately needed.

Breast cancer genetic testing has been greatly underutilized, for a number of reasons, including cost. Access to BRCA tests will increase as competition reduces their costs and makes them more affordable to more women who, until now, were unable to pay for the critical information needed to make choices that could save their lives. But, as essential as it is to make these tests more accessible, cheaper tests should not mean indiscriminate testing. And, it would be a terrible thing if removal of the patent limits Myriad's incentive and slows their fierce quest for new discoveries.

Angelina Jolie's decision to have a double mastectomy based on the results of BRCA testing has already increased interest and spurred many women to consider if they too should be tested. Lower-cost tests could further that momentum.

The reality is that only a small portion of women and men should be tested. Less than 1 percent of the general population and 2.5 percent of Ashkenazi Jews have the BRCA1 or BRCA2 gene mutation that considerably raises the odds of developing breast and ovarian cancers. The determining factor for whether or not testing is warranted is family history of cancer. If there are multiple cases of breast and ovarian cancers in a family, especially if diagnosed at a young age, it's important to consider testing. A family history of male breast cancer also is an indication for testing. The results of these tests allow individuals to make choices that can dramatically reduce their risks and in many cases prevent these cancers from occurring.

But it's important to keep in mind that only 5-10 percent of breast cancers are due to single gene mutations like BRCA1 or BRCA2. The other 90 percent are primarily caused by lifestyle and environmental factors that we ultimately have more control over, but currently we have far less understanding of many of these risks.

To make prevention a possibility for the millions of women who are at risk for breast cancer, we need the same level of passion for discovery and research dollars directed at efforts to decipher the lifestyle and environmental causes of the disease.

While so much more research is needed on prevention, we currently do have clear evidence on a number of steps women can take to reduce their risks of breast cancer which include maintaining a healthy weight, eating healthy foods, exercising regularly, restricting alcohol consumption to 2-3 drinks per week, breastfeeding (especially important for African American women and BRCA1 mutation carriers), not smoking, not using postmenopausal combination hormonal therapy, and avoiding extended use of hormone-based birth control.

The Supreme Court decision will no doubt lead to new understandings and advances that will benefit many. However, it's essential that we also look beyond inherited genes and start focusing on what we're doing with and to our bodies to find the real answers to preventing breast cancer for most women.