Genetic testing can uncover an historic health link to help prevent future cancers
Wednesday, June 17, 2009
Michigan Jewish Sports Foundation Genetic Testing Assistance Fund
|Nick Karmanos, vice president of Development for the Barbara Ann Karmanos Cancer Institute; and Nancie Petrucelli, Senior Genetic Counselor; receive a check from David Blatt, executive director, Michigan Jewish Sports Foundation, for Karmanos' Michigan Jewish Sports Foundation Genetic Testing Assistance Fund.
The Barbara Ann Karmanos Cancer Institute’s Cancer Genetic Counseling Service (CGCS) established the Michigan Jewish Sports Foundation Genetic Testing Assistance Fund in 2009 thanks to a $100,000 grant from the Michigan Jewish Sports Foundation. The Fund, now in its second year, helps enhance Karmanos’ CGCS outreach and provide genetic testing for individuals of all ethnicities who are at risk of Hereditary Breast and Ovarian Cancer Syndrome (HBOC).
Due to patent rights, there is only one laboratory in the United States that offers clinical genetic testing for HBOC, so the cost of the testing is pre-determined and can be as much as $3,100. Testing is not always covered by health insurance, therefore leaving those who are at high-risk in danger of not having information that can save their life. The Michigan Jewish Sports Foundation Genetic Testing Assistance Fund helps fund genetic testing for those people who meet clinical criteria and are at risk of HBOC but cannot otherwise afford the testing.
HBOC is the most common cause of inherited forms of both breast and ovarian cancer, highly prevalent in the Ashkenazi Jewish population. HBOC results in at least 16,000 new cases of breast and ovarian cancer in the United States each year, due to inherited mutations in two genes called BRCA1 (breast cancer gene-1) and BRCA2 (breast cancer gene-2). Karmanos’ CGCS provides cancer risk assessment and genetic counseling, as well as the facilitation of genetic testing for individuals who are concerned about their cancer family history.
Since the first round of the MJSF funding, the Karmanos Cancer Institute was able to hire a genetic counselor to help provide services, and the program provided six Comprehensive BRACAnalysis® for eligible Karmanos cancer patients who were not able to pay for their testing, didn’t have insurance to cover the cost or had insurance that didn’t cover genetic testing. As a result of the six people tested, five tested negative and one tested positive.
Shamika Long of Detroit was diagnosed with breast cancer in July of 2008. She was only in her mid-thirties at the time. The news was devastating.
“When I heard the diagnosis, I cried all day,” she said.
Long was referred to the Barbara Ann Karmanos Cancer Center and underwent six rounds of chemotherapy, a double mastectomy, the removal of 16 lymph nodes, and radiation treatments.
Despite all that she went through, Long wanted to take additional proactive measures in fighting her cancer to help in preventing any additional cancer diagnoses. She learned about the Cancer Genetic Counseling Service at Karmanos and went in for genetic counseling in 2008, a process that would help determine if she had a hereditary form of cancer. At that time, Long did not have the insurance or the means to pay for the service. However, when the Michigan Jewish Sports Foundation Genetic Testing Assistance Fund began in 2009, Long was the first patient to receive testing – at no cost.
According to Long, “I wanted to have the test because of my father’s health history.” Long’s paternal grandmother, aunt and great-aunt all had breast cancer.
Long met with Karmanos’ Senior Genetic Counselor Nancie Petrucelli who first counseled her, establishing a family lineage in the hope of determining her hereditary risks for additional cancer diagnoses. After a simple blood test, Petrucelli found that Long had a mutation in her BRCA1 gene – one of two identified genes that if mutated puts a woman at higher risk for breast cancer, as well as other cancers.
With a BRCA mutation, a woman’s lifetime risk of breast cancer is as high as 87 percent, compared to a population lifetime risk of 12 percent; and her lifetime risk of ovarian cancer is as high as 44 percent, compared to a population risk of about one percent. Men can carry these mutations as well and may develop certain types of cancers.
“It brought more worry, but these were things I needed to know,” Long said.
Petrucelli said that five to 10 percent of cancers have hereditary links. Though blacks aren’t identified as a racial group more susceptible to hereditary cancers, metro Detroit cancer statistics show a higher incidence of breast, colorectal, lung and prostate cancer among the black population as compared to national statistics studying blacks with these same cancers.
Long said she’s thankful she received the genetic testing and is aware of her higher risk for ovarian cancer. She is grateful to have the support of loved ones and takes each day as it comes. Although cancer treatment has been hard, she said she is a survivor and encourages others to be proactive about their own health.
“There’s nothing I can’t do,” she said. “Sometimes I can’t even believe I got through the things I’ve gotten through. I think it’s important for everyone to know what’s going on with their health.”
For those whose genetic testing returns negative, there is also a feeling of gratitude – not just because of the results but because this service is available for those who can’t afford it. That is the case for Elaine Stanley of Sterling Heights.
Stanley was diagnosed with lung cancer in 1991 when she was 46 years old. She had the lower left lobe of her lung removed. At the time, her doctors did not prescribe additional treatment. The following May, Stanley found a lump on her left breast. A biopsy confirmed it was cancer. In July of 1992 she had surgery to remove her left breast. Again, no further treatment was needed.
Stanley was very grateful that she came through her journey with cancer. She was cancer-free for several years.
Then, in 2006, Stanley’s mammogram showed something suspicious. Further testing confirmed that she now had cancer in her right breast and underwent another mastectomy.
The following year, Stanley worked as a temporary outreach worker educating and raising awareness in the African-American community regarding the importance of getting the appropriate cancer screenings and genetic testing, should that be needed.
“After being diagnosed with cancer three different times, I got to thinking that I needed to be tested to make sure I wasn’t carrying the BRCA gene,” said Stanley, who is the mother of four daughters, seven grandchildren and four great-grandchildren. To her knowledge, she is the first person known to have cancer in her family.
At the time, Stanley did not have the insurance or the more than $3,000 to cover the cost of the genetic testing and there was no program in place to assist her with the cost of the testing.
Stanley remembers meeting with Nancie Petrucelli and Dr. Michael Simon, M.D., M.P.H., medical director of the Cancer Genetic Counseling Service at Karmanos, in early 2009.
|Michael Simon, M.D., M.P.H.
“They were very kind and took the time to talk with me about my cancer and the concerns I had regarding the possibility of carrying a cancer gene,” said Stanley. “But I just didn’t have the money to cover the test and didn’t want to go into debt.
“It was a few months later that I got a call from Karmanos saying there was now a program that would cover a genetic test and I was eligible. They remembered me!”
Stanley expressed, “I was living with a mystery. Without the genetic testing I would always wonder, do I or don’t I have this BRCA gene? It was not good for me to have that hanging over me. I knew whatever the result, the genetic testing would be something to benefit me and my family. I felt relieved because now I could do something.”
The summer of 2009, Stanley was tested, thanks to the Michigan Jewish Sports Foundation Genetic Testing Assistance Fund at Karmanos. Several weeks later she got the results. The test was negative. She did not carry a BRCA mutation.
Stanley, now age 64, is the oldest living relative in her family. Knowing she is not passing a mutated BRCA gene to her daughters and grandchildren is a blessing.
“It’s like wishing on a star. I prayed somehow that this would be resolved. Thanks to the generosity and kindness of Dr. Simon and Nancie Petrucelli, and to the Michigan Jewish Sports Foundation for funding this wonderful program to help people like me who don’t have the financial means or the insurance to cover the testing, my family and I now have our answer. I feel so blessed. I’m a living miracle.”
Stanley said whatever the outcome would have been, she is very grateful this opportunity is available.
According to Petrucelli, “Our job is not to tell patients to get genetic testing, it’s to give them a better understanding of what’s going on in their family history and provide them with the information they need to make an informed choice about testing. We can use their genetic status to personalize a cancer management and treatment path.”
Karmanos Genetic Counselors can make recommendations for preventive measures that patients can take, should they learn they have a hereditary risk for getting cancer. Staff can also refer patients to one of Karmanos’ doctors.
Petrucelli added that genetic testing isn’t appropriate for everyone, since only five to 10 percent of cancer cases are hereditary.
“Anyone who is having concerns and/or anxiety about their cancer risks should consider the services of genetic counseling. However, in many cases, testing may not be necessary,” said Petrucelli.
Certain red flags people should consider if they think they may be at risk for hereditary cancer include:
- Having several relatives with cancer
- Having a personal or family history of a rare or unusual cancer, such as male breast cancer
- Having a relative with more than one type of cancer
- Having a personal history of cancer under the age of 50
“I feel so blessed to be able to provide patients and their family’s information that can help them make informed decisions necessary to help prevent cancers in the future, said Petrucelli.”
Today, Stanley is an active volunteer with the Wayne County Breast and Cervical Control Program (BCCCP), a program that provides complementary breast and cervical cancer screenings and treatment to eligible women age 40 – 64; with the Sisters Network; and the Susan G. Komen Detroit Race for the Cure, locally presented by the Karmanos Cancer Institute.
Stanley added, “We need to stop the silence; communicate more, even within our own families and communities, to raise awareness of cancer prevention; and we need to take action.”
Karmanos’ Cancer Genetic Counseling Services is offered at the center’s main campus in Detroit and at the Karmanos Cancer Center’s Farmington Hills location. It’s also offered at the MidMichigan Medical Center in Midland, as well as Crittenton Hospital Medical Center in Rochester, through affiliation agreements with the Karmanos Cancer Center. For more information, call 1-800-KARMANOS.
In addition to the Michigan Jewish Sports Foundation Genetic Testing Assistance Fund, over the past 25 years, the Michigan Jewish Sports Foundation has raised over $1 million to support prostate cancer treatment and care through grants to the Karmanos Cancer Institute’s Lawrence and Idell Weisberg Cancer Treatment Center in Farmington Hills, as well as other cancer charities.