In our study, family history collection was most complete for the patient whose sister, mother and maternal aunt had breast cancer (SP Case 2). Conversely, physicians did least well with a patient whose strong family history of cancer was on the paternal side (SP Case 3): fewer than half elicited relevant cancer history in paternal relatives, with the resulting loss of significant risk information. Some physician comments incorrectly ascribed less significance to paternal than to maternal family history of breast cancer, an error also evident in a physician survey [Yong, et al. 2003
] and among women reporting a family history of breast cancer [Quillin, et al. 2006
]. Most physicians provided an appropriate risk assessment for SP Case 1 – reassuring the patient that her risk was only moderately increased – but half did so on the basis of incomplete family history information, and would presumably have missed relevant maternal family history if it had been present.
Most physician statements about breast cancer risk were general rather than specific. This approach differs from the usual practice in medical genetics, which utilizes risk models to generate quantitative estimates for cancer risk and likelihood of a BRCA
mutation [Antoniou, et al. 2004
; Claus, et al. 1993
; Gail, et al. 1989
; Parmigiani, et al. 1998
; Tyrer, et al. 2004
], but may reflect an appropriately cautious approach to estimating risk based on a single primary care visit. It could also reflect a style of practice that is focused less on defining risk than on determining appropriate preventive strategies. The primary care physicians in our study appeared to interpret risk as an action guide, and often linked a general statement about risk to a specific statement about breast cancer screening or referral care. This finding is consistent with a qualitative study of primary care physicians’ attitudes toward genetic testing, which found that the value of genetic information was judged by its potential to improve clinical management [Robins and Metcalfe 2004
]. The focus on follow up action may also explain why some physicians expressed skepticism about genetic testing. Many primary care providers appeared to consider positive family history a sufficient basis for early mammography screening. The few who discussed prophylactic mastectomy perceived it as an undesirable option, and oophorectomy was not considered, apparently because few providers in our study were aware of the link between inherited risk of breast and ovarian cancer or the breast-cancer risk reducing effect of pre-menopausal oophorectomy. As a result, physicians in our study did not appear to view genetic testing data as necessary for determining follow-up.
The main limitation of our methodology was the use of SPs instead of actual patients. We cannot rule out the possibility that an actual patient would have provided a physician with more information about her family history than was requested, and primary care providers may assume that family history will be volunteered. However, SP methodology has been standardized [King, et al. 1994
], and has provided a reliable evaluation tool in medical education [Anderson, et al. 1994
] and, with the use of unannounced SPs, in primary care practice [Beullens, et al. 1997
; Carney, et al. 1995
; Dresselhaus, et al. 2000
; Epstein, et al. 2006
; Fiscella, et al. 2004
; Geraghty, et al. 2007
; Goedhuys and Rethans 2001
; Kravitz, et al. 2005
Our study did not allow us to determine whether primary care providers viewed candidacy for breast MRI screening as a rationale for genetic testing, because our data were collected prior to the promulgation of national guidelines [Saslow, et al. 2007
]. In addition, our study evaluated physician performance from a single visit rather than over the course of several visits. Finally, SP errors in our study resulted in either the provision of unsolicited family history or the failure to provide family history when asked. Because too much information was provided more often than too little, we think it unlikely that our data underestimate physician collection of family history.
Our study confirms findings from other studies based on chart review or survey [Acheson, et al. 2000
; Murff, et al. 2004
; Sabatino, et al. 2007
; Sweet, et al. 2002
; Tyler and Snyder 2006
] regarding incomplete collection of family history collection in primary care. However, in each of our scenarios a substantial proportion of physicians elicited sufficient information for an appropriate risk assessment. Nearly half of physicians seeing SP Case 1 elicited sufficient maternal history to confirm the lack of a high risk family history. All SP Case 2 encounters and 45% of SP Case 3 encounters collected adequate information, if we assume that identification of two affected relatives with breast cancer before age 50 is sufficient to generate concern about inherited risk [US Preventive Services Task Force 2005
], Although primary care providers have limited time for the collection of family history [Rich, et al. 2004
], our data suggest that a directed assessment of family history is feasible in primary care practice.
Nevertheless, our study also suggests that primary care providers need to be better informed about the link between inherited breast and ovarian cancer risk, and about the significance of a history of these cancers in paternal relatives. Further, primary care providers’ appropriate focus on actions to reduce risk suggests that educational efforts will be most successful when they link collection of family history and referral to genetic counseling for consideration of BRCA
testing to specific risk interventions. The growing evidence of effectiveness for such interventions, including early initiation of mammography, breast MRI screening, chemoprevention, and prophylactic oophorectomy [Nelson, et al. 2005
; US Preventive Services Task Force 2005
], provides a strong basis for educational efforts.