Genetic Testing For Breast Cancer Advances Bring New Challenges

By Anne Levin

With a mother and two paternal aunts who died of breast cancer, the two sisters knew it was important to get tested to see if they carried the BRCA1 or BRCA2 gene. Should the test come back positive, their risk of developing breast and/or ovarian cancer would be higher than average. And preventive measures—most likely mastectomy and/or hysterectomy—could be in order.

Each breathed a sigh of relief when their results were negative. But less than a decade later, both had been diagnosed with breast cancer. The older sister was treated with a lumpectomy and radiation. The younger one needed more aggressive treatment, and had the double mastectomy and hysterectomy her doctors recommended.

Such a scenario is unusual, but it happens. Carrying BRCA1 or BRCA2 doesn’t mean a person will get cancer; and not carrying it is no guarantee that a woman—or man—will not.

These days, genetic testing is more precise. It is also much more detailed, able to detect genetic data not only related to breast and ovarian cancer, but other forms as well. And therein lies the dilemma. Doctors have the information, but don’t always know what to do with it. Treatment hasn’t necessarily caught up with what advances in testing reveal.

“Advances in the last few years have been in the ability to test a wider selection of genetic mutations responsible for breast, ovarian, and other cancers,” says Dr. Erica Linden, medical director of breast oncology and cancer genetics at Capital Health Medical Center in Hopewell. “Instead of testing just for BRCA1 and 2, we now have panels that test many at the same time. It can be a good thing and a bad thing. It has given us more information, but at the same time given us unclear information.”

Designed to come up with treatments tailored to a patient’s genetic makeup, testing was previously carried out only by one company, Myriad Genetics. But since the U. S. Supreme Court overturned the company’s patent four years ago, the field has opened up to other laboratories. There are six operating today in the United States.

“Immediately after the patent was overturned, several commercial labs started offering testing, and not just for BRCA. They put together panels of clusters of genes,” says Dr. Mary Daly, founder and director of the Fox Chase Cancer Center’s Risk Assessment Program. “Now we can test for 85 or 100 different genes in one blood test. We’re learning a lot more about different cancers in a family we didn’t necessarily expect to find. The question is, what do we do in terms of recommendations for that? But overall, it’s a good thing.”

Results of this new era of testing sometimes lead to mutations that can’t be targeted by drugs currently on the market. But research continues on how to interpret and understand the growing field of genetic tests.

“There is a whole cancer genetics community,” says Daly. “More and more conferences are dedicated just to genetics. ASCO (the American Society of Clinical Oncology) used to be dominated by clinical trial research. But more and more talks and studies are on cancer genetics. A lot of us are involved in research around the world.”

“The American Society of Clinical Oncology has long affirmed that the recognition and management of individuals with an inherited susceptibility to cancer are core elements of oncology care,” reads a statement on the ASCO website. “…This technology introduces a new level of complexity into the practice of cancer risk assessment and management, requiring renewed effort on the part of ASCO to ensure that those providing care to patients with cancer receive the necessary education to use this new technology in the most effective, beneficial manner.”

Multi-gene panels are a major innovation, but just which genes are on those panels is the question. “People are arguing about whether all should be included, until we learn more,” says Linden. “I think in the future we’ll get better at knowing the most significant genes to test for, and not cast such a wide net. We still have a way to go, as we uncover information, as to what is the best test. It will get even more complicated. But that’s the fun of science.”

Innovations in testing have had an effect on the guidelines of the National Comprehensive Cancer Network (NCCN). “They have changed to include more women for testing,” says Kruti McDonald, the genetics testing coordinator at Montclair Breast Center. “Insurance companies are more willing to pay for testing. It’s a totally new and ever increasing landscape.”

While enhanced testing might yield a higher rate of false positives and false negatives, experts agree that testing—through one simple blood draw—is important. “I don’t see a down side to getting tested,” says McDonald. “Knowledge is power.”

“If somebody with a family history of cancer was tested before 2011, they may want to check in to make sure there isn’t additional testing recommended,” Linden says. “It’s important to know that testing used to just predict whether one might get cancer, but increasingly we’re moving over to actual treatment decisions. So testing today can yield not only what family risk would be, but can also have an impact on diagnosis, and increasingly on prognosis and treatment.”

“In general, there has been a real breakthrough in terms of why some people get cancer and some don’t,” says Daly. “We never had a good explanation for why family history was so important. This allows us to be more specific about a person’s risk and tailor their prevention activities in a more personalized way.”

Navigating Breast Cancer Charities 

October is Breast Cancer Awareness Month, an ideal time to consider making a donation to an organization in support of prevention, research, treatment, and curing the disease.

There are numerous charities to choose from. All of those pink ribbons, 5K walks, and fundraisers can get confusing, and it is hard to know which organizations fund what.

Thankfully, there is charitynavigator.org. The website helps potential donors navigate how each organization uses funds, and researches their financial health and how efficiently they operate.

“Although these charities have been very successful at generating support, together raising more than $1.68 billion annually in contributions, the disparity in their financial health is enormous,” it says on the website. Among those that get high marks for breast cancer medical services are Dana-Farber Cancer Institute, the National Breast Cancer Foundation, and It’s The Journey.

For breast cancer research, the site recommends the Dr. Susan Love Research Foundation, the Breast Cancer Research Foundation, the Breast Cancer Alliance, and the Vera Bradley Foundation for Breast Cancer.

Breastcancer.org leads the list for education and public awareness. Also rated highly are Living Beyond Breast Cancer, the National Breast Cancer Coalition Fund, Susan G. Komen for the Cure, and the Young Survival Coalition, among others.

Those who want their dollars to fund support programs, resources, and a sense of community to people impacted by the disease can donate to the Gloria Gemma Breast Cancer Resource Foundation, Sharasheret, Casting for Recovery, and SHARE, among others.

For a full list, including organizations not recommended, visit www.charitynavigator.org.