We are witnessing a paradigm shift in oncology; as our understanding of the molecular drivers of cancer improves, we will increasingly develop genomically guided therapies that will help patients live longer and better lives. Whereas scientists and clinicians anxiously await the era of personalized medicine, little work to date has examined views of patients with cancer about personalized medicine or their attitudes about a wide range of genomic tests. The results of this study provide unique insight into these issues and address some of the knowledge gaps in this area.
Although the benefits of personalized medicine are widely touted, our study suggests that personalized medicine may not be a highly relevant term for some patients. In addition to lower-than-expected reported awareness of personalized medicine, we were surprised to find that a sizeable minority of patients conceptualized personalized medicine as care that was patient friendly or independent of a physician. This conceptualization of personalized medicine is consistent with the movement toward patient-centered care.21,22
Our study also explored patients' attitudes about somatic genetic testing. Many participants reported benefits and concerns related to somatic testing that are reasonable given the implications of tumor profiling. Participants reported that somatic testing may help to identify treatments or clinical trials, and both of these concepts are consistent with contemporary practice (eg, KRAS
testing in colon cancer and cetuximab therapy23
). Some participants also correctly identified the fact that somatic testing can have prognostic implications (eg, IDH1
testing in giloblastoma24
). Participants also expressed relevant concerns related to somatic testing, including cost, accuracy, and the potential need for rebiopsy.
In contrast, however, when asked about somatic testing, participants also reported a number of benefits and concerns that are instead associated with germline testing. Similar to what has been described in the germline cancer genetics literature,11,13–15,25,26
patients in our study reported that somatic testing might be beneficial in defining familial risk and identifying cancer prevention options. Previous work has also shown that people have concerns about psychological harm, test-related distress, and discrimination in the context of cancer susceptibility testing.11,13–15,26,27
Similarly, our patients expressed concerns over life insurance, health insurance, and employment discrimination and test-related distress in the setting of somatic testing. This finding is notable, because almost all of our participants reported that our definitions of somatic and germline testing “made sense” to them. Participants may have misattributed some of the benefits and concerns related to germline testing to somatic testing, because there has been a longer public discourse about germline testing or because they used inductive reasoning to generalize their attitudes about germline testing to genetic testing more generally.28
It is also possible that the term genetic testing itself raises thoughts about familial risk, psychological harm, and discrimination because of the fact that these issues arise in genetic testing for other diseases.29,30
An alternative explanation for patients' misattributions is that patients did not understand our definitions but stated that they did because of social desirability (a participant's motivation to represent himself/herself in a positive way during an interview).31
If patients' misattributions stemmed from a misunderstanding of genomic concepts, we must carefully consider the reasons why they did not understand. First, patients may have had a harder time understanding concepts relayed over the telephone than if they had been written down. Second, genomic concepts are complicated, and it is possible that some patients may need much more, or possibly less, detail to understand test distinctions. There is also the possibility that this type of information triggers anxiety, which may impede comprehension.
Finally, although some reported risks and benefits are unlikely to occur with somatic testing (eg, identifying familial risk), studies have shown that somatic risk recurrence testing may be associated with negative psychosocial outcomes. Up to 26% of women who had somatic risk recurrence testing for breast cancer reported test-related distress,16
and 5% of women reported that testing had a negative impact on their families.32
The fact that some of our participants had significant misunderstandings about the benefits and downsides of somatic testing raises a fundamental issue related to test dissemination; as a field, we need to consider carefully the language that is used to convey genomic concepts to patients. If the term genetic testing automatically elicits concerns about discrimination and distress, and we believe that test-related discrimination and distress are unlikely to be a result of certain types of testing, then it might be important to use different terminology. A key area for future research will be to better elucidate how the language and presentation of genomic concepts affects patients' willingness to undergo testing. For example, are some genomic terms more accessible to patients than others? Are visual representations of genomic concepts necessary? Will oversimplification of concepts (eg, testing “your tumor's genes” v “your genes”) improve patient understanding? Experimental studies that evaluate genomics-related language and that try to tease out the relative importance of other factors that influence patient decision making (eg, cost) are needed. Given the complexity of genomic concepts, it is also essential that investigators of future studies pretest genomics-related language for comprehension.
It is imperative that we learn how to communicate genomic concepts to a broad range of patients, because comprehension and concerns about testing have been shown to vary across different populations. In the setting of cancer risk recurrence testing, test-related concerns were higher in less educated patients.17
Additionally, over 30% of patients did not understand “a large amount” of what they had been told.16
Post-test knowledge was lower among nonwhites; older individuals; and those who had lower levels of income, education, and numeracy.32,33
To fully understand how attitudes and willingness to test may vary across groups, it is essential that research in this area be conducted in more diverse populations. The ultimate goal of such research will be to identify the terms that should be used in clinical practice to ensure that providers effectively communicate the benefits and implications of different types of genetic tests to their patients.
In line with prior work,17,34–41
our study suggests that most people are willing to undergo emerging genetic tests, but whether this will translate into actual behavior is unclear. Our study also provides evidence that some patients may be reluctant to undergo whole genome sequencing or tests without clear utility. As the cost of sequencing decreases, there is the expectation that full sequencing of germline and tumor DNA will rapidly enter clinical practice. At this critical juncture, it is essential that we strive to understand how patients view these technologies and work to identify patient-related barriers to test adoption.
Although this study provides rich, qualitative data related to patients' attitudes about personalized medicine and genomic testing, it is limited in a few ways. Patients in this study received care at an academic medical center, and therefore, the results are not generalizable. Second, although we generated genetic testing definitions from information obtained on patient-centered cancer Web sites, it is possible that different definitions might elicit different attitudes or intentions. Third, social desirability bias can complicate studies; we attempted to limit social desirability bias by normalizing responses and encouraging participants to ask questions. Finally, our study did not evaluate the influence of cost, insurance reimbursement, or health system structures on patients' willingness to undergo testing. More work in these areas is needed.
In summary, we found that personalized medicine was not a phrase that was particularly meaningful to many patients, that some patients reported downsides of somatic testing that are more commonly associated with germline testing, and that many patients reported a reluctance to undergo whole genome sequencing. Although many patients expressed a willingness to undergo genomic testing, they also described concerns and barriers that could hinder test uptake. Taken together, these findings shed some light on patients' perceptions of emerging genetic technologies. More work in this area is needed to provide clinicians and researchers with a refined understanding of how to effectively communicate complex genomic concepts to a broad range of patients; without this, we may fail to optimize the delivery of cutting-edge genetically guided cancer care.