Decision aids from genetics to treatment of breast cancer: long-term clinical utility or temporary solution?

MEDICAL SCIENCE IS A VICTIM OF ITS OWN SUCcess. Clinical and translational investigation has resulted in a bounty of relevant and specialized knowledge that is adopted into routine clinical use. While this 21st-century science is hurtling quickly into the clinical arena, the relative growth of clinicians in some specialized areas, who are facile in using 21st-century scientific knowledge to practice 21st-century medicine, has not increased at a rate to keep pace with that of recent scientific advances. Compounded with the growing trend of viewing patients as partners in medical decision making, necessitating educating and helping patients with choices in a field that changes weekly, the medical community is facing a crisis. Two articles published in this issue of JAMA try to address this problem by exploring the utility and limitations of patient decision aids in breast cancer genetic risk assessment and breast cancer surgery. Aptly, this year marks the 10th anniversary of the identification of BRCA1, a major susceptibility gene for hereditary breast and/or ovarian cancer syndrome. The first susceptibility gene for an inherited cancer syndrome was isolated approximately 20 years ago and ushered an explosion of knowledge about cancer predisposition. Complex algorithms have been proposed to help clinicians decide when to refer patients to cancer genetics professionals and to help health care professionals accurately assess cancer risk and offer genetic testing when appropriate. Because genetic testing is widely available in the United States, the exponential demand for cancer genetics professionals (both cancer genetics counselors and physician clinical cancer geneticists) has already outpaced supply. Unlike traditional clinical subspecialties, a typical cancer genetics consultation requires 2 to 3 hours of face-to-face time. There are approximately 400 cancer genetic counselors in the United States (Bea Leopold, MA, National Society of Genetic Counselors, written communication, July 1, 2004), perhaps a fraction of whom have expertise in cancer genetic counseling. The news is even more bleak for their physician counterparts: there remains a paucity of formally trained clinical cancer geneticists. Even if training for such cancer genetics professionals started en masse today, it would still take at least a decade to feel the impact. Therefore, something “out of the box” needs to be done now. In this issue of JAMA, Green and colleagues report the results of a randomized controlled trial evaluating the efficacy of alternative educational methods to the face-to-face education that is currently part of traditional genetic counseling. The investigators enrolled 211 women with personal or family history of breast cancer from outpatient clinics offering cancer genetic counseling at 6 US-based medical centers. These patients were randomly assigned to receive one-on-one genetic education as part of traditional genetic counseling (counselor group, n=105) or education by a computer program (computer group, n=106) followed by genetic counseling. Outcome measures were those that test factual knowledge, those that assess decision making and its related parameters, such as risk perception and intent to have genetic testing, and those that measure emotional reactions (eg, anxiety, conflict, satisfaction). All outcome measures were stratified by high vs low risk of carrying a germline BRCA1 or BRCA2 mutation. Knowledge scores increased significantly for both groups (P .001), irrespective of risk status, although the increase in knowledge in the computer group was slightly greater than that in the counselor group (P=.03) for low-risk women. The intent to undergo BRCA1/2 testing decreased in both groups in low-risk but not high-risk women. The counselor group had lower scores on decisional conflict and anxiety assessments and higher satisfaction scores. From their observations, the authors conclude that an interactive computer system was more effective than standard genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk of carrying a mutation but that genetic counseling was more effective in allaying anxieties and facilitating accurate risk perceptions. Thus, they suggest that such a computer program could serve as