The translation of genomic discoveries into public health practice has been slow [29
]. At a time when the benefits of PCa screening are uncertain it is essential to understand the value of genomic information in motivating healthy behaviors and medical decision-making in persons at increased risk of the disease and providers. Since the collection of our data the U.S. Preventive Services Task Force (USPSTF) released their recommendation against PSA-based screening for PCa [6
]. The American Cancer Society [5
] continues to recommend men make an informed decision with their provider about whether to be screened for PCa [5
]. The inconsistency regarding PCa screening makes medical decision-making in this context even more challenging for both consumers and providers. Understanding how both consumers and providers regard PCa susceptibility testing can help determine how to best formulate decision support tools and interventions to guide appropriate healthcare decisions. Yet, while prior studies have examined consumers’ [33
] and providers’ [16
] knowledge and attitudes regarding general DTC genetic testing, our study is among the first to specifically examine both at-risk men’s and providers’ attitudes and knowledge regarding PCa susceptibility testing. Thus, our study’s findings provide a unique contribution to the literature regarding the knowledge, attitudes and behavioral intentions in both men at familial risk of PCa and in providers most likely to order or interpret genetic testing for PCa susceptibility.
Prior studies have reported low levels of awareness of DTC testing [37
]. Our findings support these studies, documenting low levels of awareness about genetic testing in general and PCa susceptibility testing in particular. Similar to relatives, and also supporting prior research [16
], primary care providers in our study had low levels of awareness of DTC genomic testing. Moreover, urologists in our study exhibited low levels of awareness with only half indicating they had heard or read about DTC genomic tests. It is noteworthy that relatives in our study and participants in prior studies [22
] have indicated that they prefer to obtain and discuss genetic testing through their own provider, yet both primary care physicians and urologists, the two providers most likely to provide medical advice to men at increased PCa familial risk exhibit low levels of awareness about this type of genomic testing. This limited awareness as well as low levels of genomic efficacy could impact patient-provider communication about PCa susceptibility testing.
We observed appreciable differences in relatives’ and providers’ attitudes toward PCa genomic testing. Providers identified limitations of the genomic risk panel and expressed concerns about the test’s clinical validity and utility. The majority indicated they would not order the test for their patients and would not use PCa genomic testing to guide healthcare decisions, preferring to use family history when making screening recommendations for their patients. However, while relatives may not have found testing to be helpful in making lifestyle choices (i.e., diet, exercise), most relatives in our study indicated interest in testing, both to understand genomic factors that may help with screening decision-making and also simply out of curiosity. In fact, many relatives in our study indicated they would get the test simply because it would be interesting. These findings also support prior research on public interest in genomic testing interest [35
]. Despite citing curiosity as a reason for testing, relatives expected their provider to interpret the results and make healthcare recommendations based on their test results. Relatives in our study also indicated that they trusted their providers could and would accurately interpret the test results, and most would seek out their own provider for information to help them make an informed decision about testing, rather than seeing a genetic specialist. However, primary care physicians and general practitioners have consistently reported low genomic self-efficacy [16
]. Providers in our study similarly indicated low confidence in discussing benefits and risks of genetic risk testing with patients. Furthermore, many providers in our study indicated they did not have time to counsel patients about genetic issues, and would prefer to send patients to a genetic counselor for testing and have them interpret the test results. Providers were concerned that decreased-risk results would lead to less compliance with screening recommendations. They also believed that increased-risk results would lead to greater anxiety and unnecessary procedures which in turn could lead to unnecessary costs to the patient and to the healthcare system. Additionally, most providers in our study had not encountered patients’ questions regarding DTC testing. Similar findings are reported in the literature, [16
] suggesting that providers may lack confidence because they lack experience. This lack of experience and self-efficacy could influence providers’ ability to help patients make informed decisions about testing and how to cope with the test results.
While relatives’ expectations of providers in our study are consistent with patient expectations in prior research [35
], many relatives also indicated that although they would consider enhanced screening, they did not think genomic information added value to family history information. This contradicts other studies examining public attitudes toward genomic testing [39
]. One possible explanation for this attitude may be the relatives’ belief that neither diet nor exercise could reduce their PCa risk despite scientific evidence suggesting some associations between diet, exercise and risk of PC development [40
]. If individuals believe there are steps they can take to eliminate or reduce a risk, then information about that risk can be advantageous. For instance, if individuals receive genetic cancer risk information related to increased risk for skin melanoma and they believe they can take steps to reduce the risk through behavior change (i.e. limit sun exposure; wear sunscreen), then genetic risk information may demonstrate clinical utility [45
]. However, while relatives indicated their belief that healthy behaviors could reduce the risk of disease for people who have a gene for a particular disease they also indicated they did not believe lifestyle changes would reduce their own PCA risk. Thus they may have felt that genetic information would not help them make lifestyle behavior changes that would be beneficial.
We observed similarities in providers and relatives attitudes toward lifestyle behavior change. Relatives indicated they would follow enhanced screening recommendations based on risk results but admitted they might not follow through if their provider made lifestyle recommendations for diet and exercise behavior changes. Providers indicated they would recommend enhanced screening for patients who had received genetic risk testing and also believed relatives would likely not make diet and exercise changes.
Noteworthy is the finding that while providers believed family history was sufficient for making screening recommendations, most relatives had not had a conversation with their own provider about their PCa family history. Further, nearly one-third of relatives indicated they had initiated conversations with providers regarding PCa screening because the provider had not initiated the conversation. This is informative, as the new USPSTF guidelines recommend against PSA testing but recognize the common use of PSA screening in practice today. The guidelines suggest that patients requesting PSA screening be provided with opportunities to make informed choices; thus providers should be prepared to discuss screening benefits and risks. Our study appears to support the notion that while providers may not recommend PSA testing they may be asked to provide screening tests as most relatives in our study had their PSA levels tested within the prior year despite the lack of patient/provider communication about this issue.
Another important finding in our study concerns overutilization of health services. As discussed, providers have low levels of confidence in providing genetic services and indicated they would not order testing for their patients. Yet if patients presented them with their test results, providers indicated they would recommend enhanced PCa screening regardless of test result outcomes
. Providers stated that if a patient was sufficiently concerned to order a test, then the physician would increase screening recommendations. There is considerable controversy surrounding PCa screening including over-diagnosis and over-treatment of clinically indolent cancers that can result in treatment-related side effects and incur unnecessary healthcare costs and burdens on the healthcare system [46
]. Concerns have been raised that consumer use of genomic testing may lead to over utilization of health care systems. Our results indicate this may occur not because physicians believe the test results indicate the need for more diligence in patient surveillance, but because physicians worry about medical and legal responsibility if they do not adequately address test results with increased screening. Our findings underscore the need for educating both consumers and providers regarding genetic testing based on an understanding of both perspectives. Decision-support tools are vital to both patients and providers to ensure that patients are made aware of the risks and limitations of genetic testing and providers make healthcare decisions for their patients based on their patients’ clinical characteristics.
It should be noted that this was a pilot study and as such our sample was fairly small and homogenous: relatives were primarily non-Latino white and well educated with higher incomes. In addition, we drew our sample from one geographical area and relatives’ attitudes and knowledge might not be generalizable to other geographical areas, or to lower education or income levels. Provider’s genetic awareness and knowledge might also differ by geographical location. It is also worth noting that the relatives in our study consisted of men who were aware of their increased risk for PCa via their own family history. It could be that their awareness of this risk influenced their interest in testing. Future research should concurrently examine testing interest in men with and without family histories of PCa.
Additionally, the education session was created to provide a minimal level of information and was presented without bias toward or against SNP testing. We did not measure genomic knowledge levels in the post-focus group surveys, thus we could not determine whether the education session had changed genetic understanding and thus testing intentions. It would be of value for future research to include measures that assess changes in genetic understanding following focus group discussions.