Despite these guidelines, there are a number of reasons why their application in real-world clinical practice sometimes proves difficult. First, though legal age of majority is considered 18 in most countries, no guideline offers a lower age limit. The rationale for using an age-based guideline is to delay testing until the individual considering testing is ‘old enough’ to make an autonomous, informed choice. Yet, guidelines are designed with flexibility in mind to permit shared decision making between patients and primary care providers (PCPs). The development of cognitive and decision making capacity are highly variable during adolescence [17] and there has been little work into how to formally assess these [18]. Due to ethical concerns, it is also difficult to conduct research on outcomes related to offering testing to minors in clinical contexts, and this has hampered direct assessment of key outcomes, such as actual risks and benefits to testing children [19].

Second, some high risk families approach PCPs about testing adolescents. Parental disclosure of test results to minor children occurs fairly frequently. Approximately one-half of parents inform their minor-age children of parents’ BRCA1/2 test results, with girls and older children more likely to be informed [3, 20-24]. Early studies found that about one-quarter of parents would allow their minor children to be tested and one-fifth wanted this testing for their children [25]. More recent reports suggest that about one-half of mothers who participate in BRCA1/2 testing support testing of minors (48%; [12]), and 30% of parents who disclosed mutation status information to their children under age 25 (and too young to medically benefit from testing) did so in order for the child to be tested [24]. Generally, disclosure is associated with higher maternal interest in pediatric BRCA1/2 testing [20]: mothers who more frequently talk to their children about familial cancer and are more inclined towards disclosing their results to their children are also more in favor of pediatric BRCA1/2 testing [4].

Though there is a fairly high rate of disclosure of maternal BRCA1/2 test results to minor children, parents perceive a balance between the risks and benefits of sharing parental mutation status with their children and of having minor children tested. On the one hand, parents report potential psychological risks and the immaturity of minors as reasons to not offer testing to this age group [12]. Indeed, many tested parents who disclose their own mutation status do not think their children appreciated the significance of the information and that disclosure resulted in negative emotional impact [24]. On the other hand, some parents also perceive a positive behavioral impact through improved lifestyle [12]. Empirical data are needed to better support parental decision making in this emerging area [26].

Disclosure of parental genetic test results to minors may impact minor children's interest in pursuing testing, and therefore, consequent discussions with PCPs. Disclosure may impact this process either directly or indirectly. Parents may share their own interests in having their children tested with these children, specifically piquing a child's interest in being tested. Knowledge of parental test results also may lead children to worry about their own future cancer risks, indirectly prompting interest in being tested [20]; adolescent girls with positive family histories of breast cancer are more interested in testing than those without this history [27], while those from high risk families express concern about their personal risks for the diseases [20, 28].

A combination of flexible guidelines and moderately high parental interest sets the stage for PCPs to encounter requests for pediatric BRCA1/2 testing. Very little is known about how PCPs respond to such requests, and if or how they are influenced by parental preferences. In a small study of pediatricians and geneticists, a majority indicated they would provide BRCA1/2 testing to a minor upon request, especially when coupled with patient assent and parental consent. Surprisingly, though none would offer BRCA1/2 testing without adolescent consent, 80% would permit newborn screening for mutations in these genes [29]. In a survey of clinical geneticists practicing in Europe, 20% were willing to offer BRCA1/2 testing to a 16 year-old patient; 71 % had provided such counseling to young patients, and 1% provided testing for these patients [30].

We examined a number of variables that were not predictive of willingness to offer BRCA1/2 testing. The fact that general wellness practices did not predict willingness to offer testing suggests that PCPs view the ordering of these tests as a special circumstance and not part of routine preventive care in this population. Given that ordering and recommending of other genetic services was a predictor in our study, it is notable that previous training in genetics was not a predictor. Indeed, frequency of offering of genetic services and previous training were not significantly related (r = -.09, p = .28). Communicating genetic information and facilitating informed decision making by patients is an essential provider skill, but many PCPs lack sufficient training in this area [42]. Continuing education and research in the areas of provider-patient communication, patient education and genetic risk assessment would facilitate the development of the skills to provide care that balances the often competing implications of practice guidelines, risk management, patient preferences and healthcare costs [34, 38]. For example, it is possible that, after a more thorough discussion with the parents about the potential risks and benefits of testing minor children, testing could be deferred until the child is older. Counseling also could address a number of ongoing issues, ranging from a parent's anxiety about not knowing a child's risk, a child's anxiety about developing cancer or dying from the disease, and interest in modifying risk through diet and physical activity. Testing may not resolve these issues. PCPs could also assist parents in how to communicate with their children about disease risk. Sharing genetic risk information with children is a gradual process, with unique challenges at each phase [44]. Providing relevant information, ensuring understanding, and managing emotional responses are integral in guiding children through this process, but many parents report difficulty in one or more of these areas [45]. Thorough assessment and follow-up by a multidisciplinary team, including psychologists, physicians, and genetic counselors, throughout this process helps to facilitate family adjustment.

This study has several limitations. The sample was relatively small. The overall response rate of the survey was less than 60%, which we further limited to providers whose practice could have included offering testing. However, this response rate is similar to other studies that have recruited at professional conferences and the demographics with regard to gender, age and practice setting are similar to those applying for board certification in adolescent medicine in 2005, the year the study was conducted [46]. Likewise, our method limits the generalizability of our results. Our use of hypothetical scenarios to assess practice likely does not reflect actual test uptake [47] and certain important factors that would impact actual clinical care, such as the parents’ attitudes towards testing and the adolescent patient's capacity to make an informed choice, were not included. Finally, the responses of the participants in our study also may not reflect those of other SAM members or other PCPs, as most of our respondents were either physicians or worked in academic medical settings. Specifically, given that SAM conference attendees may be particularly sensitive to adolescents’ developmental differences, willingness to offer testing in other samples might have been higher.