Genetic testing gains ground as safeguards increase
Genetic testing is gaining ground as laws are being tweaked to safeguard information about a patientÂ’s genes, health care officials said.
In Fort Worth, patients at risk for certain diseases or syndromes can seek genetic testing and counseling even if they donÂ’t have the insurance or personal funds to cover the expensive, specialized tests. On a national stage there are hints the United States is moving toward safeguarding patients from having their genetic information used as ammunition against them.
While only about 5 percent to 10 percent of cancers are hereditary, said Sara Pirzadeh, a certified genetic counselor, this small population is getting a lot of attention as genetic information empowers patients to see if a disease can be combatted — or prevented — early on.
On May 1, Congress passed a bill that would prohibit companies from using genetic information to make insurance or employment decisions.
The legislation was passed in the House of Representatives by a vote of 414-1 and was unanimously passed in the Senate. The Genetic Information Nondiscrimination Act of 2008 is a major step in safeguarding people and families who may be predisposed to certain diseases, said Dr. Robyn Young, medical director for the High Risk Breast Cancer Surveillance Clinic at Harris Methodist Fort Worth Hospital.
While there are tests for many diseases that show up in patient and family histories, ranging from cancers to sickle cell anemia, breast cancer is one of the most commonly tested diseases because itÂ’s established there is a link between two specific genes and an increased risk of breast cancer, health care professionals said.
Two genes in particular, BRCA1 and BRCA2, cause about 90 percent of hereditary breast cancer. A woman with a mutation in one of those genes has a 50 percent to 85 percent chance of developing breast cancer in her lifetime as well as a 20 percent to 40 percent chance of developing ovarian cancer, said Pirzadeh.
Men also can have mutations of the same genes and have up to a 6 percent chance of developing breast cancer and an increased risk of developing prostate cancer, which may be aggressive, she said.
Pirzadeh works at Moncrief Cancer Resources in Fort Worth. The organization also has ties to UT Southwestern Medical Center in Dallas, but Pirzadeh spends most of her time working with patients in Tarrant County. She said of the roughly 35 local patients she sees a month, 75 percent are referrals about breast cancer.
Family history is a strong indicator of whether there may be a genetic link to cancer, said Young, who also sees patients at the Center for Cancer and Blood Disorders. If, for example, breast cancer shows up in multiple people in many generations, as well as ovarian cancer and bilateral breast cancer, then people within the family can be tested for the BRCA mutations.
However, the tests are expensive. Myriad Genetics Inc., headquartered in Salt Lake City, is the only company that tests for BRCA mutations with its BRACAnalysis test. The total cost of a test is about $3,000, said Young, and not all insurance companies will cover genetic testing.
“That’s an expensive test and very few people want to pay that out of pocket,” Young said.
And even if there were clear indications that a patientÂ’s breast cancer was genetically linked, there was also wariness of what would happen to genetic information prior to legislation being passed, she said.
“A lot of people in the past have been very reluctant to get genetic testing because of the risk of losing their health insurance, because of the risk of losing their life insurance or their job,” she said.
Cost to patients
A $3,000 test may be the tip of the iceberg for some patients, said Pirzadeh. Sometimes breast cancer may be genetically linked but not to the BRCA genes. There are several other rare genes that can cause hereditary breast cancer, she said.
Insurance companies are becoming better about covering genetic testing, Pirzadeh said, and most large companies have guidelines about covering BRCA testing. For local women without health insurance, there are new avenues to get testing if needed. Moncrief Cancer Resources was awarded a $138,080 Susan G. Komen for the Cure grant to use during 2008 to pay for genetic testing for underserved patients in Fort Worth.
Once a month, genetic counselors from Moncrief Cancer Resources hold a clinic at the JPS Health Center for Women, testing women for the BRCA mutations. Around 23 women have already been tested, and five tested positive for BRCA mutations, Pirzadeh said. This is a much higher percentage of positive tests than the normal patient population she treats because the highest-risk patients are being referred, she said, and thereÂ’s obviously a great need that was unmet.
“This is a big piece of the population that we were not seeing before,” she said.
Patients who have positive results are then guided through the appropriate health care measures, ranging from extra screenings starting at a younger age to drastic preventative measures, like surgically removing the ovaries and breasts. Pirzadeh said insurance companies will cover the extra care, meaning patients wonÂ’t have to know theyÂ’re at a higher risk of disease but be unable to do anything due to costs.
For every positive test, an estimated four more family members—usually with no cancer diagnoses—will be testing to continue increasing family knowledge about their genetic makeup. Tests are becoming more refined and health care professionals are becoming better about testing the right people and then getting them preventative and early care. As the test evolves, patient care evolves, said Banu Arun, associate professor of breast medical oncology and co-director of clinical cancer genetics at the UT MD Anderson Cancer Center. Patients who were tested several years ago may get different test results today, she said.
“If the family history is significant enough, we re-test because the test has changed,” she said.
Pirzadeh said although a patient is born with specific genes and canÂ’t change them, what can be changed is how to handle the possible health implications.
“The family history does not have to be the future,” she said.
Personal effects of genetic testing
When Lisa McKenzie was diagnosed with aggressive breast cancer, her physician, Dr. Robyn Young, was concerned. The cancer was a subtype that only accounts for a small percentage of breast cancers, and Young recommended genetic counseling and testing for McKenzie.
After counseling and testing at Moncrief Cancer Resources, McKenzie learned she was BRCA2-positive. The mutation was linked to her breast cancer, and although there was no family history of the disease, several family members were tested to see if they also carried the mutation.
McKenzieÂ’s mother was found to carry the mutation, as well as her oldest daughter, who is in her 20s. McKenzieÂ’s mother is healthy and her daughter now gets regular MRIs to check for any signs of the disease. McKenzie was treated for her cancer and has been free of recurrences for almost two and a half years.
McKenzieÂ’s youngest daughter, Hollie McKenzie, is currently 19 and cannot be tested until sheÂ’s 21. The family was told the test was approved for people 21 and older, after the bodyÂ’s hormones had become regular. Hollie McKenzie said when her mother, grandmother and sister were all told they were BRCA2-positive, it was difficult not knowing her own genetic status.
“I’m a worrier, and so for a couple months after it all I did was look it up on the Internet,” she said.
She said she came to terms with the genetic potential, though, and doesn’t worry any more. Knowing that it runs in her family does offer some information about safe-guarding herself — she said she exercises regularly to decrease her risk of breast cancer — but knowing her personal information is something she still wants to get as soon as possible.
“I’ll probably do it pretty soon after I turn 21,” she said.
Lisa McKenzie said while she still developed advanced cancer, sheÂ’s grateful that her daughters might be able to avoid the same situation.
“It’s not a blessing that I got the cancer and the genetic testing, but it is for my daughters,” she said.
Contact Bassett at ebassett@bizpress.net
