Starting Wednesday, Myriad Genetics will begin accepting blood samples to test for gene defects that cause breast and ovarian cancer. According to Myriad, this is the first test of its kind ever marketed commercially.
Samples will be analyzed at the Myriad Genetic Laboratory at company headquarters in Research Park. Myriad recently moved into an automated, 48,000-square-foot laboratory and has received certification from the federal government to provide the testing.BRCA1 and BRCA2 genes will be sampled. The acronyms stand for the first and second breast cancer genes to be discovered. Together, mutations in these regions are believed responsible for about 90 percent of all early onset hereditary breast and ovarian cancers. However, many more breast cancers may not involve genetic mutations.
A full genetics work-up on
BRCA1 and BRCA2 will cost $2,400. If a defect is found, other family members will be offered tests for that specific mutation for $395. Myriad has set up an assistance program to help patients ordering the test to obtain reimbursement.
The only other genetic cancer tests on the market are a couple of colon cancer analyses that are mostly available for research, Myriad's marketing director, Bill Hockett, said Friday.
"We've gotten a lot of physician calls in" since the program was announced on Thursday, he added. "We're very pleased with the number of calls we've been receiving."
Media interest also has been intense, he noted. The test received front-page treatment in the Boston Globe, and the New York Times has written about it.
The test, BRACAnalysis, is marketed throughout the country. Next year, Myriad hopes to expand the service into Europe and other countries.
"The physician draws a single four-cc tube of blood and sends that to us in Salt Lake, and we extract the DNA from that," he said. Myriad experts will make full-sequence tests, where they examine the genetic regions involved to check for any possible mutation, he said.
According to Myriad, women in one study who had a BRCA1 mutation had an 85 percent risk of developing breast cancer by age 70, compared with a risk to the general population of women of 10 percent. Those with the mutation also had a 44 percent chance of developing ovarian cancer by age 70, compared with a 1 percent risk for the general population.
BRAC2 was found to be responsible for a great many other breast cancers. The sequences for these two genes were discovered by Myriad and the University of Utah in 1994 and 1995.
The Myriad test covers 80 separate genetic amplifications and the examination of 16,500 DNA base pairs. "The process requires 10 working days of laboratory time for each analysis," Hockett said.
Myriad has provided a grant to the Dana-Farber Cancer Institute, Boston, to establish a confidential and voluntary patient registry for women who have been tested for the mutations. The registry will collect additional information to help establish the risk of developing cancer, depending on the particular mutations found.
"The information will also be useful in determining which medical interventions are most effective in the care of patients," Hockett added.
Brian Ward, Myriad's vice president for laboratory operations, said that when a mutation is identified in one of the tests, Myriad will confirm the result with a repeat analysis. "The use of bar-coding, sample-tracking technology in conjunction with a highly automated, robotics system enhances sample integrity," Ward said.
The test is mostly intended for women whose family histories show they are at high risk for breast or ovarian cancer, plus those with a diagnosis of one or the other diseases, especially during pre-menopausal years.
Janet Haskell, president of Myriad Genetic Laboratories, said women should understand that just because they get a negative test result, that doesn't mean they can never develop breast or ovarian cancer. They will still have at least the same risk as the general population.
"We're proud to launch BRACAnalysis because it has the potential to save lives and improve women's health care," Haskell added.