Follow-up telephone interviews were conducted with 94 (93.1%) of the 101 participants. Five areas were explored in the interviews: (1) motivation to participate in the research study, (2) experience participating in the current study, (3) results of the research project, (4) behavior changes made as a result of the genetic testing, and (5) genetic testing more generally. More than half (n = 48) of the participants who completed follow-up interviews said that they were motivated to participate in the study because they had a family member with age-related macular degeneration (one of the initial inclusion criteria) or another eye or genetic disorder and often listed specific family members who had age-related macular degeneration and the impact of the disease on their lives. A typical comment about personal family age-related macular degeneration history as a motivator to participate was: “Because my Dad had really bad macular degeneration and was almost blind from it.” Twenty-five participants indicated that they chose to participate in the study because their optometrist had suggested the study to them and they respect him. Stated simply by one of the participants, “‘cause you asked me to” and by another “I did it because Dr. F. was personally involved in the testing.” Altruistic reasons for study participation, such as “I hope it helps somebody” and “Partly because I really believe in clinical trials and studies,” were given 26 times. Patient curiosity was also a common reason for study participation, with comments specific to genetics such as “just interested in the whole genetic thing.”
Response to the experience of participating in the study was overwhelmingly positive, with many people saying that the process was simple and the results were interesting. Only four negative emotions were expressed, two because of inaccurate billing (participants were not supposed to be billed for any costs related to the study). Overwhelmingly, people found the information received useful, with 77 specific positive comments provided such as “nothing was a waste of time,” “the genetic information was definitely useful,” and “yep, learned some prevention measures.” Five people expressed some confusion about the information they received.
Genetic results and counseling were provided by the optometrist, and 70 participants said they preferred that genetic results be returned face-to-face with a doctor or other health care professional because it allowed patients to ask questions. A number of people specifically mentioned that the optometrist who provided the information was very good at explaining the information. A number of people mentioned that it would be especially important if the results were not good. Phone calls with results were mentioned by a number of people as another option to receive genetic test results.
Participants were asked, “Do you remember what the genetic test results were?” As expected from the actual genetic risk scores displayed in Table 2, the majority of patients reported low or no risk of developing visually impairing age-related macular degeneration in the next 10 years.
Despite low levels of risk, many participants reported making changes as a result of the genetic testing. Seven people reported that their doctor would be watching them because of the genetic results. Twenty-seven people reported making specific changes, such as wearing sunglasses and brimmed hat and taking vitamin supplements. Another 16 people said that they were already doing the recommended activities, including wearing glasses, quitting smoking, and/or taking vitamins.
Fifty-nine people (62.8%) indicated that they would participate in additional genetic testing for other diseases, citing a variety of reasons for their interest. A specific comment that “knowledge is power” reflected a number of comments from people about using information from additional genetic testing to give them warning about diseases that might develop so they could be prepared. One person did mention the “double-edged sword” of knowledge of increased risk of development of conditions in the future that could not be prevented. A couple of people mentioned being supportive of additional testing to help out other people.
Advancements in our understanding of genetic and environmental contributions and their interaction to risk of age-related macular degeneration provide opportunities for early intervention to prevent vision loss. The scientific authors of two recent reviews of direct-to-consumer genetic testing for age-related macular degeneration concluded that routine testing for future risk of age-related macular degeneration is not warranted currently, in part because of the wide variation in cost and scope for existing clinical genetic tests and in part because of questions of clinical utility.16,17 Authors of a cost-utility analysis found that genetic screening for age-related macular degeneration that would allow for early treatment with ranibizumab therapy for neovascular macular degeneration would be cost effective.20 To our knowledge, our study is the first of its kind to evaluate response to predictive genetic testing from a patient perspective. We found strong support for this study and future genetic testing in this primarily white, educated patient population.
Behavioral response to predictive genetic testing for various conditions has varied in prior studies.16–18,21 A recent review and meta-analysis found no support in the literature for behavior change as a result of communicating genetic-based risk prediction.21 Exceptions have been seen for improved health behaviors after risk communication for genetic risk of colorectal cancer,22 lung cancer,23 and Alzheimer disease.24 Perhaps significant behavior change in response to genetic testing is associated with fear of the disease being predicted. We have shown previously that, when given five options, the majority of people would first choose to provide treatment and support for total blindness.25 In the Collaborative Initial Glaucoma Treatment Study, researchers reported that more than one-third of patients had a fear of blindness after receiving a glaucoma diagnosis.26 Blindness was found to be a key motivational factor in smoking cessation programs.27
Knowledge about motivation to participate in genetic studies is important for future research and ultimately clinical practice. More than one-quarter of study participants indicated that they participated in the study because of the good relationship that they have with their optometrist. A study of patient attitudes toward recruitment and participation in clinical trials found that patients are interested in participating in clinical trials if they get information from their treating physician and get personal results returned to them.28 Similar to a study of patients in retinal trials, in the current study we also found that many participants chose to participate for altruistic reasons.29 Early adopters of personalized genomics are motivated to participate to learn about their disease risk and improve their health through speaking with their physicians to request specific recommendations.30
The Behavior Change Wheel may be useful to understand how the information gained from the current study can be used to understand the components necessary for successful implementation of behavior change, in this case behaviors related to age-related macular degeneration risk.31 In the inner core of this wheel, the personal sources of behavior including capability, motivation, and opportunity are already in place as demonstrated by the positive responses to age-related macular degeneration genetic testing observed. The middle layer of the Behavior Change Wheel comprises intervention functions, such as education, persuasion, training, enabling, and incentivizing that we have shown can be successfully implemented in a single optometry practice. The outer layer of the wheel includes guidelines. Notably, the American Academy of Ophthalmology currently recommends against genetic screening for age-related macular degeneration because of a lack of immediate clinical utility. Furthermore, fiscal measures including payment for genetic testing are not standardized. Communication/marketing is taking place through direct-to-consumer testing and marketing.
Strengths of the current pilot study include the high response rate. Limitations include the study population being representative of the limited geographic area, but not representative of the more diverse United States in terms of race/ethnicity and education levels. The personal connection with the one provider may limit generalizability.
In summary, we found a very positive response to predictive genetic testing for age-related macular degeneration in this study population with a family history of age-related macular degeneration, with many people reporting adoption or maintenance of positive eye health behaviors. Further research is needed in other patient populations and over time to determine long-term impact of genetic testing.
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