Knowing Family History Puts Disease Risk in Context
Posted on: Thursday, 8 May 2008, 03:00 CDT
By KARIN KAPSIDELIS
Finding out if something in your family tree might lead to a cancer diagnosis is not just about sticking out your arm and getting a blood test.
"Our big push is to get people to be more open in discussing family history," said Dr. Joann Bodurtha, director of clinical genetics at Virginia Commonwealth University.
It should not be "a secret that Aunt Bess died of this or that," she said, because open discussion within families plays an important role in preventive medicine.
Susan Uhle, a nurse practitioner with Richmond Surgical Group, said genetic testing should come "under the wider umbrella of risk assessment."
"Women need to be aware of risk factors," she said. Such factors include a family history of pre-menopausal breast cancer, male breast cancer or ovarian cancer.
Women of Ashkenazi Jewish background - and that's 90 percent of Jewish Americans - especially need to be aware of these risks because of the greater likelihood they carry BRCA1 and BRCA2 mutations, she said.
While genetic testing can help identify women with the mutations, Bodurtha notes that the results are sometimes ambiguous. Also, a positive result does not translate to "a 100 percent chance of developing cancer" or show "you're going to get this sick on this day."
Most insurance companies will pay for BRCA1 and BRCA2 genetic testing if family history warrants it, she said.
Without insurance, the test costs more than $3,000. However, the costs drops to $385 to test for a known mutation already identified in a family member.
Generally, if possible, testing is done on the person already diagnosed with cancer as opposed to other family members, both for privacy reasons and more accurate results.
"They're most likely to have the markers," Bodurtha said, "and the bottom line is individuals with cancer already have cancer."
Uhle said she has had two patients in the past six months who chose to bypass insurance and pay for the tests themselves out of privacy concerns.
People worried their genetic information might be used against them may soon have an added measure of protection.
The federal Genetic Information Nondiscrimination Act was approved by the Senate late last month. The House passed an earlier version, and President Bush has indicated his support of the measure.
Fears that genetic tests could result in employment or insurance discrimination go beyond BRCA1 and BRCA2.
Currently, genetic tests are available for about 1,500 diseases, with more under development, according to the Genetics and Public Policy Center in Washington. A 2007 survey by the center found that 93 percent of respondents thought neither employers nor insurance companies should have access to testing results.
While Virginia and many other states have genetic nondiscrimination laws in place, federal legislation has been sought to offer uniform protection.
Source: Richmond Times - Dispatch
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