The doctor explained the risks and certain words started to stick out. Surgery...cancer... children. It's difficult to imagine what it would feel like to have cancer at a young age with children at home. However, genetic testing can offer patients a chance to avoid that situation and it could make all the difference in the world for their health care.
Dr. Michael McClellan, chief of the Medical Genetics Service at Madigan Army Medical Center, discussed the breast cancer susceptibility genes, referred to as BRCA 1 or 2. This is just one of the more common tests he completes for his mostly adult patient population. When identified as a carrier of a BRCA gene mutation it is believed that a person carries a greater than 50 percent lifetime risk of developing breast cancer and the risk can extend to ovarian cancer as well. Genetic testing, through services McClellan provides, can assist patients with understanding certain risk factors and their providers with planning for future care.
"It's not always as simple as a blood test," said McClellan. "Our job is to determine when testing is useful and could affect a patient's long term health care."
A majority of the genetic services patient base comes from Obstetrics patients who are offered genetic screening as a part of their prenatal care. Although McClellan focuses on adults, Dr. Mark Stephan, a developmental pediatrician, provides services for pediatrics. Genetic testing can provide information identifying patient risk levels. Diseases such as breast cancer, Marfan syndrome, Neurofibromatosis, and Huntington's disease carry a higher risk for patients who test positive for their associated genetic mutations.
"Carrying a genetic mutation does not mean you have the disease," said McClellan. "It just means you carry a higher risk."
While genetics testing does not always provide a concrete diagnosis of a disease, it does assist both the provider and beneficiary with care plans and preventative options that might positively impact the patient's future. After testing is complete a genetics counselor meets with the patient to understand risks, care options, future considerations, and provide an understanding of technologies available for their care.
For instance, identifying patients who carry the BRCA 1 or 2 gene mutations can provide the patient with the option of risk-reducing surgical procedures or screening options not typically considered for patients who have not been identified as being at-risk. Those screenings could assist with prevention of the disease. Recent articles in the Journal of the American Medical Association have shown a benefit to genetic testing and risk-reducing procedures in patients. Studies of a group of 2,500 women who were diagnosed with BRCA gene mutations and underwent risk-reducing or preventive procedures showed the women were less likely to be diagnosed with breast cancer.
According to the National Human Genome Research Institute, while most Americans are optimistic about the use of genetic information to improve health, many were concerned that genetic information may be used by insurers to deny, limit or cancel health insurance, and by employers to discriminate in the workplace.
So, in 2008, the Genetic Information Non-Discrimination Act was passed. GINA protects Americans against discrimination based on their genetic information when it comes to health insurance and employment. The measure, which had been debated in Congress for many years, paved the way for people to take advantage of genetic testing.
For more information or a referral to the Medical Genetics Service, patients can contact their primary care physician.
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