The idealized view of genetic medicine is a world where every person’s DNA can be tested for the genes that predispose them to disease. Armed with this information, physician and patient can take early preventive steps to help decrease an elevated risk for developing cancer, heart disease, or other maladies before they start. The Human Genome Project has not yielded as many of these genetic red flags as scientists once predicted, but it has armed doctors with some useful tests, including one for the breast cancer risk genes BRCA1 and BRCA2.
Yet the success of the BRCA test has also exposed important ethical questions raised by genetic medicine. Most publicly, there is the legal battle that continues to rage over whether the patent on the BRCA genes claimed by private company Myriad Genetics is legitimate. But another question looms behind that fight: just because the test is available, does that mean it should always be used?
A particular ethical scenario relevant to this question is probed in a recent paper by physicians from the University of Chicago Medical Center and the Fox Chase Cancer Center in Philadelphia. Published last month in the Journal of Clinical Oncology, the authors surveyed hundreds of parents about their willingness to have their children tested for the BRCA variants associated with breast cancer risk. The results reveal changing attitudes about genetic testing, as well as the delicate balance between the value of knowing one’s disease risk and the stress associated with that knowledge.
Parents at the two medical centers who had themselves undergone BRCA testing were given a telephone survey addressing their feelings about testing their children under 18 for the cancer risk variant. Over 240 people participated – and gave a decidedly split decision. A slim majority of parents (55 percent) said they did not support testing minors for BRCA in general, with 37 percent in favor of it. But when asked about testing their child specifically, a slightly larger 44 percent said they would. Intriguingly, those parents found to carry the BRCA mutation that increases cancer risk were least likely to support the testing of their child.
Those numbers demonstrate reluctance to test minors for a disease that will not affect them until much later in life, but also suggested a trend toward acceptance. A 2000 study cited by the authors found only 17 percent of parents hypothetically interested in testing their child for BRCA. Another study found that almost a third of primary care providers would recommend unconditional testing for a 13-year-old daughter of a BRCA-positive mother, despite physician groups recommending against the practice.
The justification for the groups’ recommendation makes sense: since nothing medically can be done for minors with an elevated genetic risk for cancer, the information would be needlessly stressful. But the parental responses raised a valid counter-argument, the authors report.
“Parents also frequently stated that genetic testing could promote preventive health behaviors in minors,” they wrote. “The knowledge of a genetic risk can motivate other health behavior changes in diet, exercise, and tobacco use – habits that escalate and solidify in adolescence.”
One voice lacking in the discussion is the children themselves; though it’s understandably difficult to survey a young population on a complicated medical issue, the results would be fascinating. The role of education in deciding whether or not to test one’s children also deserves more investigation, as the authors found that less educated parents were more likely to be in favor of testing (I would have predicted the opposite). Ultimately, the results show that implementing the new tool of genetic medicine will likely be driven by old rules – how deep one wants to go into personalized medicine for themselves or their family is a personal decision.