Genetic Study Makes Testing More Accessible

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rendered depiction of the human DNA
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Trying to find a BRCA gene mutation is like trying to find a spelling error in a very big book.

But researchers from the BRCA Founder Outreach Study know which specific sets of words to look for, and they’re hoping that will make a difference to many of Ashkenazi descent.

The study will give Philadelphians the opportunity to receive simpler access to genetic testing.


The new, independent research initiative is available for men and women of Ashkenazi Jewish ancestry over the age of 25 in four major cities — Boston, Los Angeles, New York and Philadelphia — and designed to increase direct-to-consumer access to this genetic test for hereditary cancer.

The study is targeting Ashkenazi Jews — who make up 95 percent of the American Jewish population — because they are 10 times more likely than the general population to inherit BRCA mutations, which can lead to types of cancer like breast, ovarian and prostate.

The screening will look for mutations in BRCA1 and BRCA2 genes. The results will hopefully identify genetic changes early on to better develop cancer detection, prevention and treatment.

The trial partners with a team of experts in cancer and genetics research as well as primary care providers — the first of its kind to do so.

The real problem with the research over the years has been implementation, said Susan Domchek, a principal investigator of the study and executive director of the Basser Center for BRCA at the Abramson Cancer Center of the University of Pennsylvania. This hybrid model combines pre-test education with primary care physicians “because it’s really important to have this information interpreted correctly and acted on appropriately by your health care provider.”

Everyone has the BRCA genes, but mutations can cause the gene to not function properly.

“If you are born with one bad copy of BRCA1,” Domchek said, “that increases your risk of developing cancer pretty substantially.”

For comparison, the breast cancer lifetime risk is about 12 percent for women without a BRCA mutation. With the mutation, that risk can reach as high as 80 percent.

Of course, a positive BRCA test does not fully determine if someone will develop cancer. But taking advantage of the screening allows people to take necessary and informed steps ahead of time, such as preventative bilateral mastectomies or hysterectomies.

If participants’ results from the study come back positive for the mutation, Domchek recommends a preventative removal of ovaries by the age of 40, depending on the specific gene, or increased breast MRIs and cancer screenings.

“This is a pretty extensive conversation about what those different approaches will be and when they may best fit into a person’s list,” she added.

If an individual decides to go through with preventative surgery, it doesn’t reduce the cancer risk completely, but it does a significant amount — about 90 percent for ovary removal and more than 90 percent for bilateral mastectomy.

The genes were first discovered in 1994 and ’95, and researchers have since gathered a better understanding of how to mitigate the harmful effects.

“When genetic testing first became commercially available,” she said, “we really targeted the highest-risk populations — individuals that have very strong family histories of breast and ovarian cancer — but again, we know that people who are of Jewish descent have a one in 40 chance of having these gene mutations.

“It’s important people understand the risks and benefits of testing,” Domchek continued. “For some people, if you have a very large family and no cancer, your risk of having a mutation may not be that high. But if you test positive, you’re still going to have to make difficult decisions.”

“We know that BRCA genetic testing can save lives,” said Katherine Nathanson in a press release, another principal investigator from the Basser Center for BRCA. “Although this testing has been available for more than two decades, many people at high-risk for carrying a BRCA mutation have not been screened.

“Many men and women in the Ashkenazi Jewish population who carry these mutations have not been identified.”

Those interested are open to enroll in the study through BFORstudy.com, at no cost to participants. The study is seeking about 4,000 individuals — 1,000 participants in each affiliated city.

The one-time test is conducted through blood.

To confirm eligibility, participants must register online, complete an education module and provide consent. The patient’s primary care physician can provide the test results, as well as genetic counseling or additional tests, if necessary.

Domchek hopes the study will help the program develop a new model that significantly reduces barriers to getting a genetic test as well as getting it done in the context of primary care.

Other direct-to-consumer products — like trendy DNA history tests from sites like AncestryDNA or 23andMe — sound enticing and simple, but it’s not always easy to interpret the results.

There are only so many genetic counselors available to interpret results, and if genetic testing is going to continue to expand to people who don’t have a family history of health risks, then Domchek said researchers have to look to alternative models of interpretation.

“It’s really important to realize these tests aren’t in a vacuum,” she noted. “The results of these tests are in the context of your personal and family history. That’s how we interpret them.”

23andMe recently released a specific Ashkenazi Jewish panel to accompany genetic tests for cancer risks, which is FDA approved.

Although more accessible, some are concerned users will interpret negative results as all-clear for cancer risks, when really the panel only tests for three particular mutations common among Ashkenazi Jews. Meanwhile, hundreds of other mutations exist for non-Ashkenazi Jews.

The FDA noted these mailed products should be more of a step in the door to genetic counseling rather than a substitute.

“Which is the approach that individuals would prefer?” Domchek questioned. “Do they want to go direct to a drug consumer or do they want to involve their medical professionals? I think genetic tests are aided by having a medical provider interpret the results, but the fact of the matter is what we’re trying to do is get increasing access to genetic testing information.” 

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