Advances in BRCA Testing

New testing methods may prove to be quicker and less expensive

View Comments (0)Print ArticleEmail Article
Section Sponsored by:

Women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer should be evaluated to determine the possible presence of a deleterious mutation in the BRCA1 or BRCA2 genes, as recommended by the United States Preventive Services Task Force in December 2013.

The lifetime risk of developing breast and/or ovarian cancer greatly increases for women who inherit a harmful mutation in BRCA1 or BRCA2. Genetic tests are designed to look for a known mutation in one of the genes and to check for all possible mutations in both genes. Mutation testing requires DNA from a blood or saliva sample.

According to the National Cancer Institute, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the person's family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.

The screening tools doctors can use to assess family history factors that are associated with an increased likelihood of having a harmful mutation in BRCA1 or BRCA2, include: breast cancer diagnosed before age 50 years; cancer in both breasts; both breast and ovarian cancers; multiple breast cancers; two or more primary types of BRCA1- or BRCA2-related cancers in a single family member; cases of male breast cancer and Ashkenazi Jewish ethnicity.

Market Expansion
"While BRCA testing has been available since the mid-1990s, until very recently, access to BRCA testing was limited as it was only available from a single company," shared Frederick M. Waldman, MD, PhD, medical director of cancer diagnostics at Quest Diagnostics, based at the company's Nichols Institute in San Juan Capistrano, Calif. "The Supreme Court ruling in June 2013 changed the landscape, and now patients and providers have several options for BRCA testing."

In a unanimous ruling by the U.S. Supreme Court, naturally occurring forms of DNA cannot be patented, but companies have the right to patent synthetically produced DNA. This ruling paved the way for a more innovative and competitive genetic testing market for the BRCA1 and BRCA2 mutations.

New BRCA tests will be more rapid than prior testing, according to Henry T. Lynch, MD, chairman, preventive medicine and public health and professor of medicine at Creighton University School of Medicine in Omaha, Neb. "An additional outcome of new testing methods, including long-range PCR testing and next generation sequencing, will be a reduction in cost," he said.

Selecting the Right Test
A patient should be well informed before making important decisions about her health. The patient's physician and genetic counselor can help the patient understand if BRCA testing is appropriate, said Waldman.

"A genetic counselor can help immensely in providing education about a particular BRCA test and whether or not the test is right for a particular patient," Lynch explained. "This process involves comments about methods and technology and, of course, insurance coverage."

According to Lynch, patients who test positive for BRCA mutation can undergo more intensive surveillance, whereas, those who are negative for BRCA mutation will be at general population risk and do not have to undergo intensive screening.

Waldman believes insurance coverage is a potential roadblock for patients. BRCA testing is widely supported in medical guidelines and by health plans, he said, but it can be a challenge for patients to determine if they qualify based on their individual risks. To help streamline the process for patients, Quest provides preauthorization support and referral services to genetic counselors.

BRCAvantage, Quest Diagnostics's new lab-developed genetic tests (LDT), became available in October 2013 to identify mutations in BRCA1 and BRCA2 genes.

Because each patient is different, Quest has tailored its offerings to provide four versions of BRCAvantage to meet the needs of each individual patient based on her risk profile. One of the tests, for example, is specifically tailored to patients who are of Ashkenazi Jewish descent because these individuals are at increased risk of BRCA mutations, explained Waldman. Other tests assess a patient based on known familial mutations and prior cancer history.

One of Quest's goals for its BRCAvantage lab-developed test is to expand access to BRCA testing. "Studies show that many high risk patients who could benefit from BRCA testing do not receive these services," Waldman said. "Quest is in a unique position to broaden awareness and access because we combine mainstream presence with highly advanced cancer diagnostics expertise."

Quest has 2,200 patient service centers and can provide referrals to genetic counselors as well as preauthorization support. The company serves half the physicians and hospitals in the United States and all the major health plans.

"Those assets allow us to reach and help a large population of patients and providers," Waldman said. "But we also have the most advanced technologies, like next-generation sequencing, and a staff of more than 700 MDs and PhDs who have created a cancer menu unique for both its breadth and innovation. We combine the best of both worlds in a way few other diagnostic information service providers can, as evident in our BRCAvantage offering."

On the Horizon
As a result of the Supreme Court ruling and decreased costs associated with DNA sequencing, the use of genetic testing is expected to explode in the next 10 years. But the industry lacks a unified way to share genetic results to help patients and physicians make decisions about care.

Several organizations have launched initiatives that hope to enable patients to use their genetic test results to advance knowledge about how gene mutation affects disease. "Gene data sharing, if done with great discretion, will be a new and important implementation to the testing process," observed Lynch.

Quest representatives believe BRCA testing carries broader societal obligations to enhance clinical outcomes. Through collaboration with other data providers, Quest hopes to further scientific progress in the understanding, diagnosis and treatment of hereditary breast and ovarian cancer. Collaboration between providers is critical to advance science and turn discoveries into clinically meaningful medical services.

"Quest is committed to open access to genetic BRCA data, assuming it is identity protected and/or provided with informed patient consent," Waldman said.

Rebecca Mayer Knutsen is on staff at ADVANCE. Contact: rknutsen@advanceweb.com


Email: *

Email, first name, comment and security code are required fields; all other fields are optional. With the exception of email, any information you provide will be displayed with your comment.

First * Last
Title Field Facility
City State

Comments: *
To prevent comment spam, please type the code you see below into the code field before submitting your comment. If you cannot read the numbers in the below image, reload the page to generate a new one.

Enter the security code below: *

Fields marked with an * are required.