When Anne Grofvert had surgery to remove a malignant lump from her breast, she never imagined she might not have to undergo chemotherapy.
But a genomic test predicted the likelihood of her cancer returning was very low, so she took her doctor’s advice and skipped the time-consuming, often-nauseating, hair-robbing treatment that is frequently part of a cancer battle.
Three years later, Grofvert, 53, is cancer-free.
"The benefits didn’t outweigh the risks," said Grofvert, a Lansing resident and avid cyclist. "I felt like I cheated by not having to go through chemotherapy."
The test, for early-stage breast cancer patients, is among a growing number of medical options that are a direct result of the human genome sequencing a decade ago, and is now offered at hospitals in the region.
Although medical discoveries continue in scientific laboratories as a result of the Human Genome Project, some critics argue that it has been slow to impact human health. But many point to the cancer test as an example of genomic medicine that not only saves health care dollars, but also helps patients determine whether surgery and radiation are enough and chemotherapy can be avoided.
"You don’t want to give chemotherapy to people who don’t need it," said Dr. Michael Simon, a professor of oncology at the Karmanos Cancer Institute in Detroit. "This is providing more scientific information to help people make decisions. The more information we can provide in an uncertain world, the better."
Breast cancer is the most common type of cancer among women, afflicting more than 202,000 annually, including about 7,000 in Michigan. Nationally, more than 40,000 die annually from the disease. Public health campaigns have lead to earlier detection. But they also led to questions about whether chemotherapy benefits would outweigh the risks for some patients.
Test gives information
In 2004, a new test became available to help doctors to provide better guidance and help patients to make more informed decisions. Known as Oncotype DX Breast Cancer Test, it was developed by Genomic Health, a California-based life sciences company, and touted as the first diagnostic gene expression test. Covered by many medical insurance plans, the test is aimed primarily at women with early-stage breast cancer that has not spread to the lymph nodes.
The test, taken after the tumor has been surgically removed, examines 21 genes in tissue. It predicts the likelihood of the cancer returning based on an algorithm that has been validated in numerous studies. A low score suggests the cancer is unlikely to return and the need for chemotherapy is low. The test has been taken by 190,000 patients.
In addition, a 2005 study in the American Journal of Managed Care showed that the test can save money in the health care system. Since nearly 60,000 breast cancer patients took the test last year, it is estimated that more than $100 million in health care dollars could be saved in 2011.
Mapping the genome
"It’s another step forward in personalized medicine based on the Human Genome Project," said Dr. Daniel F. Hayes, clinical director of the breast oncology program at the University of Michigan’s Comprehensive Cancer Center.
Ten years ago, scientists announced the sequencing of the human genome, a milestone that many predicted would revolutionize how diseases are diagnosed and treated. Following reports of the anniversary, some criticized the mapping effort, saying it has led to few benefits for human health. Among the most prominent critics is J. Craig Venter, leader of private effort to decode the human genome, who has said "close to zero" discoveries have been made. But Dr. Francis Collins, who led the publicly funded effort to map the human genome and now directs the National Institutes of Health, said many health benefits have emerged as a result of the ground-breaking project.
In this month’s human genome anniversary series in the journal Science, Collins points to analyses that helped scientists identify gene mutations in people suffering from a debilitating vascular disorder and inflammatory bowel syndrome.
The genome and its benefits to human health, Collins added, are the reasons the NIH plans to create the National Center for Advancing Translational Sciences, aimed at bringing new ideas to industry attention.
"We stand at a significant juncture - the once-hypothetical medical benefits of individual genome sequencing are beginning to be realized in the clinic," Collins said. "My hope is that when the day arrives to celebrate the 20th anniversary of the original human genome publications, we will be able to look at a world filled with the faces of people whose health has been improved by the sequencing of their genomes."
Bypassing chemo
One example is Valerie Kowal, who was diagnosed with breast cancer in September. She was told by two doctors she would have to undergo chemotherapy. But after her surgery, she took the test and got a low score.
Although Kowal, 43, and her husband were skeptical and nervous about bypassing the chemical treatment, she decided to take her doctor’s suggestion and forgo chemotherapy.
"It really wasn’t necessary and my oncologist claimed it would be overkill and the Tamoxifen would take care of things," said Kowal, of Lexington, near Port Huron. "I have heard horror stories of what you have to go through (in chemotherapy) and, frankly, I don’t have time in my life for that."


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