A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know
Funding information German Ministry for Education and Research, Grant/Award Number: 01GP1205
Abstract
The progress of medical genetics leads to a significant increase in genetic knowledge and a vast expansion of genetic diagnostics. However, it is still unknown how these changes will be integrated into medical practice and how they will change patients' and healthy persons' perception and evaluation of genetic diagnoses and genetic knowledge. Therefore, we carried out a comprehensive questionnaire survey with more than 500 patients, clients seeking genetic counseling, health care staff, and healthy persons (N = 523). The questionnaire survey covered detailed questions on the value of genetic diagnoses for the different groups of study participants, the right to know or not to know genetic diagnoses, possible differences between genetic and other medical diagnoses, and the practical use and implications of genetic knowledge with a special focus on hereditary neuropsychiatric diseases. A huge majority of the participants (90.7%) stated to have a right to learn every aspect of her or his genetic make-up. Similarly, study participants showed high interest (81.8%) in incidental health care findings—independent of whether the diseases are treatable or not. One can derive from the data outcome that study participants did not follow the implications of a “genetic exceptionalism” and often considered genetic findings as equivalent in relation to other medical diagnoses.
1 INTRODUCTION
The progress of medical genetics has led to a significant increase in genetic knowledge and genetic diagnostics. However, it is still unknown how these changes will be integrated into medical practice and how they will change both the sick and healthy perceive and evaluate genetic diagnoses and genetic knowledge. Gathering data and establishing new fields of knowledge has a long tradition and is now an essential component of modern medicine. According to classical medical epistemology, there is no “superfluous knowledge” in medicine as every piece of information could be valuable for the treatment and healing of a patient. Such a perception finds similarity in the enlightenment traditions of philosophy and the premise that adequate information is necessary for autonomous decision making. For example, authors like Rosamond Rhodes or Hans-Martin Sass argued in the context of genetic knowledge that there may be a “duty to know” in order to be able to consider the meaning of existing medical knowledge for one's own health status (Rhodes, 1998, p. 18; Sass, 1984, p. 121 f). In the context of “informed consent” in medical practice, ethicists and lawyers have provisions that imply how much information is necessary for the patient to give valid consent.
Confusingly enough, the progress of medicine also produces new kinds of knowledge that do not seem to fall into this classical paradigm. Preventive medicine is nowadays identified as an essential approach to reduce the disease burden of the population. However, preventive screenings, as for example, for breast or prostate cancer, face strong criticism as it seems questionable whether the above mentioned goal can be achieved. Similarly, in the regulation of modern genetics the “right not to know” is conferred to the patients (Andorno, 2004), which is in general incompatible with the classical view of medical epistemology. If every single piece of information can be useful for therapy, how can it then be explained that it is reasonable for patients to renounce their right to be informed? The right not to know could be understood as comparable to the paternalist position of earlier times in oncology when terminally ill patients were not informed about their imminent death. How is this traditional paternalism of physicians compatible with the new possibilities and practical implications of predictive medicine (Sheehan, 2015)? A number of authors showed that this development has also important ethical implications for genetic testing in case of psychiatric and neurological diseases (Appelbaum & Benston, 2017; Lázaro-Muñoz et al., 2018). The described issue is also connected with the concept of “genetic exceptionalism,” that is, the idea that genetic information is a specific category of medical knowledge which has a particular meaning for the individual and must be handled with extreme caution by medical professionals.
Currently, the identification of pathogenic variants is a new form of medical knowledge that raises questions on how this knowledge can be integrated into the available body of medical knowledge. In this respect, the question arises whether the benefit of such knowledge is universal or bound to specific conditions, that is, the diagnosis of an early stage disease or the prediction of a preventable or treatable disease. As Rolland and William (2005) argues, a comprehensive description of “genomic illness” (which also covers the handling of pathogenic variants), would comprise “1) [the] likelihood of developing a condition based on genetic mutations, 2) overall clinical severity, 3) timing of clinical onset in the life cycle, and 4) whether effective treatment interventions exist that can alter clinical onset and / or progression” (Rolland & William, 2005, p. 7). It is therefore important to inquire whether or not the meaning of pathogenic variants for a genetic disease varies dependent from these four aspects of the hereditary disease.
These questions have led to an extensive debate after the publication of the American College of Medical Genetics and Genomics' (ACMG) recommendations on the feedback of predictive information from incidental and secondary findings in 2013. In this publication, the ACMG recommended that laboratories which carry out genetic testing should always seek and report mutations of clinical importance from an extensive list of 56 genes associated with 24 different conditions (Green et al., 2013, p. 570 f). As was explained, “[t]he conditions and variants thresholds […] selected for reporting incidental findings have therefore been set to try to maximize the benefits (increasing the likelihood of true-positive results) and minimize the harm (decreasing the likelihood of false-positive results)” (p. 571). This formulation showed an overlapping of ethical questions regarding the benefit and harm of communicating genetic findings and its clinical benefit for patients or clients in genetic counseling. Indeed, the recommendations were criticized for not being differentiated enough, including testing and communicating adult onset diseases independent from the client's age at the time of genetic counseling. Furthermore, it was unclear how incidental findings from genomic sequencing studies should be communicated (Johnson & Gehlert, 2014). As Richardson concluded in her legal examination of the problem, “genetic professionals and legislatures must be cautious about dictating patient actions to protect the remaining components of patient autonomy and individual freedom” (Richardson, 2014, p. 386 f).
The ethical literature on the issue emphasizes, that predictive information can lead to social stigmatization and a “lifetime of struggle” with possible psychological harm and discrimination (Bortolotti & Widdows, 2011, p. 673). The identification of pathogenic variants for the possible development of a severe neuropsychiatric disease could lead to hopelessness and a loss of self-esteem on the side of the individual, thereby restricting the patient's ability for disease management (p. 673). The empirical studies on the issue—which comprise predominantly smaller samples with qualitative interviews—show, that clients and patients are in general interested in predictive genetic information, but often have problems to adequately classify and interpret it for their own situation (see also section 4). However, there are at the present point of time only a few publications with detailed quantitative research in the field of neuropsychiatric diseases concerning the patients' perception and evaluation of the right not to know (e.g., Sundby et al., 2017, 2019).
Additionally, there is currently no consensus how to deal with an increased genetic risk for specific diseases and how to integrate such theoretic-diagnostic knowledge into the practice of medicine and the counseling of clients. Therefore, we carried out an extensive questionnaire survey with more than 500 patients, clients seeking genetic counseling, health care staff, and healthy persons. The questionnaire survey covered detailed questions on the value of genetic diagnoses for the different groups of study participants, the right to know or not to know genetic diagnoses, possible differences between genetic and other medical diagnoses, and the practical use and implications of genetic knowledge. Different groups of participants were enrolled in the study to assess how they would evaluate the benefit of new kinds of genetic and medical knowledge.
2 STUDY DESIGN
2.1 Research approach
The questionnaire study was part of a large interdisciplinary research project funded by the German Research Ministry (grant no. 01GP1205). The project group consisted of researchers from law, medical ethics, genetics, and psychiatry from the German universities of Göttingen and Ulm. The aim of the first project phase was a thorough qualitative analysis of ethical and legal foundations of the right not to know in genetics, followed by a number of interdisciplinary workshops, where applied problems and constellations from genetics and psychiatry were discussed. The project group then developed a questionnaire of 52 items in total. The questionnaire was designed by sociologists and psychologists trained in empirical research. The questions were formulated by colleagues with broad experience in empirical research and the design of questionnaires. Questions which were found to be too complicated by test persons were changed after the pretest. Additionally, technical terms like “disease risk” or “genetic examination” were explained in the respective sections of the questionnaire. Therefore, efforts were made to ensure a sufficient understanding of the questions among the majority of participants. The participants, recruited from groups of patients, relatives of patients, members of patient and expert groups, or health professionals were all concerned with hereditary or neuropsychiatric diseases.
In the course of 3 months, the methodological aspects of the questionnaire were elaborated in close cooperation with colleagues from psychiatry, genetics, medical ethics, and law. After the initial development of the questionnaire, a pilot test was carried out, followed by biometrical counseling, revision, and validation. Finally, the questionnaire was submitted to the institutional review board of the University Medical Centre Göttingen, where also the methodological and biometrical aspects of the empirical research were checked. The questionnaire was provided as a paper version and as an online version (completed paper questionnaires: N = 335; completed online questionnaires: N = 188; overall sample size: N = 523 completed questionnaires). The larger part of the questionnaires (consisting of 335 from a total of 523 completed questionnaires) were paper questionnaires which came mainly from patients and their relatives from the departments of psychiatry and human genetics at the University Medical Centre Göttingen. The online survey was published via newsletters and homepages of university institutions as well as patient and medical expert societies (German Association for Bipolar Disorder, German Association for Psychiatry, Psychotherapy and Psychosomatics, University of Göttingen Medical Center). Our sample is therefore not representative of the normal population, but for patients, relatives, and medical staff concerned with hereditary or neuropsychiatric diseases. The data collection phase took place from June 2014 until November 2014; the data were collected in anonymized form. The research project was positively evaluated by the Research Ethics Committee of Göttingen University's Medical Faculty on February 18, 2014.
The data were analyzed through descriptive statistics, explorative factor analysis and Pearson's chi-square-test (significance level α = 5%, p < .05). The questionnaire was structured into five sections, that is, sociodemographic questions (Part I), introductory questions regarding general attitudes concerning genetic knowledge and information (Part II), evaluations of the right to know or not to know (Part III), medical paternalism and respect for autonomy (Part IV), and possible transfer of information to third persons (Part V). In the final section, participants had the opportunity to make remarks regarding the study and the questionnaire. In Part I, the participants initially received information regarding some notions in questions such as “risk of disease,” “genetic examination,” and “medical study” to ensure that they understand the meaning of the questions. These explanations were followed by three questions focusing on the right to know and potential concerns regarding genetic knowledge. Part II was based on the assumption that different forms of diagnoses will have different meaning for participants and will, therefore, have an impact on how relevant and useful different forms of diagnoses are perceived by the participants. Regarding the right to receive information on incidental findings, it is not fully clear at the moment (e.g., in case of diagnostic MRI medical research) that participants should be informed in any case and that the right to be informed applies for all kinds of incidental findings. Likewise, researchers are often not sure to what extent incidental findings have to be validated and secured before passing this information on to the patient or participant.
Limitations of the study design must be seen in the limited representativity of the sample, which is not representative for the average German population, but for patients, relatives, and medical personnel concerned of or in relation with hereditary or neuropsychiatric diseases. Additionally, a number of questions in the survey were of hypothetical nature for the study participants. The present publication does not contain a detailed subgroup analysis of the study population, but more information is available on this issue in a recent publication from our research group (Flatau et al., 2018).
2.2 Participants
Survey participants were health care professionals (7.2% physicians [N = 35], 4.3% nurses [N = 21], 2.5% medical students [N = 12]), patients suffering from a hereditary disease (24.7%; N = 130), persons having relatives with a hereditary disease (23.5%; N = 122), patients with nonhereditary diseases (34.4%; N = 180, mainly psychiatric or coronary diseases), and members of the general population (3.4%; N = 18). 40.6% of the participants were Protestants (N = 206), 22.6% Catholics (N = 115), others 3.1% (N = 16), Muslims 1.2% (N = 6), Greek-Orthodoxians 0.6% (N = 3), and 31.9% (N = 162) unaffiliated with any religion. The education level was higher than average German population with 55.5% (N = 280) of the participants having a final secondary school examination and 39.1% (N = 197) having an intermediate secondary school examination. The participants' occupational status was comparable to the overall German population (with a higher proportion of 11.2% [N = 56] students in comparison to only 3.6% in the overall population) with 47.8% employees (N = 239), 5% self-employed (N = 25), 7.4% housewives or househusbands (N = 37), 16.8% pensioners (N = 84), 5% jobless persons (N = 25), and 6.8% with “other” professional status (N = 34). The nationality was prevalently German with 94.2% (N = 490), further on 0.8% Turkish (N = 4), 0.8% Italian (N = 4), 0.8% Polish (N = 4), and 3.4% other nationalities (N = 18).
3 RESULTS
3.1 Response patterns and tendencies in different subgroups
The data analyses showed that participants' educational level had the strongest influence on how they answered the questionnaire, that is, participants with a higher education status (high-school or technical diploma) evaluated the significance of genetic knowledge more skeptical and evaluated their right to self-determination higher than other groups. In contrast, there was a statistically significant distinction to participants with a lower education status (secondary school qualification, special needs school, or early school leaving, see Table 1). Further variables which showed significant differences in how the questionnaire was answered were gender and the professional role in the health care system. Interestingly, being concerned personally or as a relative with hereditary or other genetic disease did not significantly change how the questionnaire was answered. More detailed information concerning the subgroup analysis in the present survey was published in a separate analysis (Flatau et al., 2018).
| (2) Genetic tests can result in people who are found to have a genetic disorder being socially discriminated or excluded from society | Completely not agree | Rather disagree | Rather agree | Completely agree | Do not know | Pearson's χ2 test |
| Higher education | 7.3% | 23.7% | 38% | 23.7% | 7.3% | p < .000 |
| Lower education | 18.1% | 25.6% | 27.4% | 11.2% | 17.7% | |
| (3) Do you think that the knowledge about having a high risk for a fatal, non-treatable illness would be a burden in your life? | Completely not agree | Rather disagree | Rather agree | Completely agree | Do not know | Pearson's χ2 test |
| Higher education | 2.2% | 13.6% | 44.7% | 36.3% | 3.3% | p < .000 |
| Lower education | 8.0% | 9.4% | 34.9% | 32.1% | 15.6% | |
| (8) There is a simple and reasonably priced option to be tested for your risk for more than 250 genetic disorders. Would you get yourself tested? | Completely not agree | Rather disagree | Rather agree | Completely agree | Do not know | Pearson's χ2 test |
| Higher education | 19.0% | 28.2% | 23.8% | 17.9% | 11.0% | p < .01 |
| Lower education | 10.9% | 18.5% | 25.6% | 30.8% | 14.2% |
| (9) Before a test or study during which something could be found incidentally, I'd like to discuss with my physician in detail about what I do and do not want to know, even if the conversation would take a very long time | Higher education | Lower education | Pearson's χ2 test |
| Yes, in as much detail as possible | 79.1% | 81.3% | p < .235 |
| I'd like to express my wishes a little, but my physician should make most of the decisions for me | 14.0% | 10.5% | |
| My physician should decide himself what he does and doesn't tell me | 0.4% | 1.9% | |
| I don't want to know anything at all about possible incidental findings | 2.9% | 1.4% | |
| Don't know | 3.6% | 4.8% |
| (14) Which of the following do you think outweighs the other: The physician's duty of care towards you as a patient or your right to self-determination? | Duty of care | Self-determination | I do not know | Pearson's χ2 test |
| Higher education | 16.1% | 73.6% | 10.3% | p < .004 |
| Lower education | 27.8% | 60.4% | 11.8% |
| (15) You previously refused to be informed about incidental findings. However, your physician thinks it's important that you are told you have a disease. He thinks he has the responsibility and the right to tell you about it | I agree | I reject being given information against my will | Do not know | Pearson's χ2 test |
| Higher education | 52.7% | 36.3% | 11.0% | p < .002 |
| Lower education | 67.6% | 22.1% | 10.3% |
- Notes: Higher formal education: High-school or technical diploma; Lower formal education: Secondary school qualification, special needs school, or early school leaving.
The subgroup analysis showed that participants with a higher education level had a significantly lower acceptance of genetic examinations and were more able to realize the negative implications of genetic testing. Participants with a higher educational qualification were also more willing to make decisions against the physician's clear advice. This was less probable in the case of participants with a lower level of education. In one question, it was asked, whether persons with hereditary cancer in the family wanted to be informed about having a disease risk of more than 50%. This was rejected by 18.4% of persons with a lower education level, but by 31.1% of persons with a higher level. Equally, in Question (2), 61.7% of persons with a higher education level feared social discrimination due to a positive genetic diagnosis in contrast to only 38.6% of persons with a lower educational level (see Table 1).
Even though they are medical experts, medical students and physicians showed a more critical stance toward genetic knowledge than other participants and answered more frequently “I don't know.” This was, for example, the case in Question (5) and other similar questions. A further interesting finding from the factor analysis was the fact that answers in the survey were independent from the participants' health status. Therefore, we come to the conclusion that the assessment of genetic knowledge was, in this case of the present sample, irrespective of the own health status.
3.2 Part I: Right to know and potential disadvantages
The first Question (1) focused on the aspect whether somebody has the right to know his or her own genetic constitution and possible risks for genetic diseases (Table 2). A large majority of 90.7% did see this as a person's right in comparison to 6.9% who answered that this is not, or rather not, the case. A wide majority of participants affirmed therefore a “right to know” regarding genetic information.
| Completely not agree | Rather disagree | Rather agree | Completely agree | Do not know | |
|---|---|---|---|---|---|
| (1) Everybody has the right to know everything about his genetic makeup and also about the risk for genetic disorders | 1.8% | 5.1% | 41.4% | 49.3% | 2.4% |
| (2) Genetic tests can result in people who are found to have a genetic disorder being socially discriminated or excluded from society | 12.1% | 25% | 32.9% | 17.9% | 12.1% |
| Completely agree | Rather agree | Rather disagree | Completely not agree | Do not know | |
|---|---|---|---|---|---|
| (3) Do you think that the knowledge about having a high risk for a fatal, non-treatable illness would be a burden in your life? | 34.6% | 40.6% | 11.5% | 4.8% | 8.5% |
| (4) In research studies (clinical studies and other research studies), a future participant has to be completely informed about the risks and benefits before he can agree to participate (“informed consent”). Do you agree with this legal provision? (Multiple responses possible) | |
| Yes, completely agree | 63.7% |
| Yes, but he should also be able to choose not to be informed | 30.6% |
| Yes, but only if the participant understands the information | 21.3% |
| No, I think all that giving of information is over the top | 0.4% |
| No, the information given is often so bad that it can make you ill | 0.6% |
| Don't know | 1,7% |
In the Question (2), it was asked whether genetic findings can also have negative side-effects, and can, for instance, result in social discrimination or exclusion from society (Table 2). The answers show that a slight majority of 50.8% of the respondents are aware of the possibility of such negative side-effects. In comparison, 37.1% of the participants had no concerns. The answers showed that the participants had no unambiguously positive perception of genetic knowledge, at least with regard to societal consequences of a genetic diagnosis. In the last Question (4), it was asked whether the right to information was also seen as important when it comes to other medical contexts (participation in a research study) (Table 2). In this question, multiple answers were possible. The results showed that only a vanishing minority assume such a legal provision as wrong. As an overarching result from this part of the questionnaire, it can be stated that a large majority of the participants was well aware of patients' rights to be informed but also assumed that genetic information can result in negative side-effects.
3.3 Part II: Evaluation of different forms of knowledge
The next part examined the participants' wish to be informed about incidental or new diagnoses; different forms of genetic and other (conventional) diagnoses were compared.
In Question (5), we wanted to know whether participants wanted to be informed about every disease that was diagnosed incidentally (Table 3). A huge majority of 81.8% of participants affirmed this question, whereas a minority of 12.4% prefer this only in the case of an existing therapy. This shows that the knowledge about incidentally diagnosed diseases was generally perceived as valuable or relevant, and not only when this knowledge has a therapeutic consequence. Only a small minority of 3.4% did not want to know every disease, and 2.4% of the participants did not know how to decide. In the next Question (6), it was asked whether the participants wanted to be informed about every incidentally diagnosed hereditary disease (Table 3). The question can, therefore, be seen in the context of the sometimes proposed “exceptional” character of genetic diagnoses. The pattern of the answers was very similar to Question (5), which shows that participants made no “exceptional” presumptions with regard to genetic diagnoses: 82% answered that they wanted to know every hereditary disease, whereas only 11% saw it as decisive that a therapy for this disease does already exist. The remaining 4 and 3% did not want to be informed and did not know how to decide, respectively (Table 3).
| Yes | Only, if prevention possibilities are available | No | I do not know | |
|---|---|---|---|---|
| (5) I want to know about any disease I have that is found incidentally | ||||
| All participants | 81.8% | 12.4% | 3.4% | 2.4% |
| Health care personnel | 70% | 21% | 3% | 6% |
| Other participants | 84% | 11% | 3% | 2% |
| Pearson's χ2 test: p < .005 | ||||
| Yes | Only, if prevention possibilities are available | No | I do not know | |
| (6) I want to know about any genetic disorder I have that is found incidentally | 82% | 11% | 4% | 3% |
| (7) I want to know about any risk I have for a genetic disorder that is found incidentally | 66.1% | 14% | 14% | 5.4% |
| Completely agree | Rather agree | Rather disagree | Completely not agree | Do not know | |
|---|---|---|---|---|---|
| (8) There is a simple and reasonably priced option to be tested for your risk for more than 250 genetic disorders. Would you get yourself tested? | 23.5% | 24.9% | 24.3% | 15.1% | 12.2% |
| (9) Before a test or study during which something could be found incidentally, I'd like to discuss with my physician in detail about what I do and do not want to know, even if the conversation would take a very long time | |
| Yes, in as much detail as possible | 80.4% |
| I'd like to express my wishes a little, but my physician should make most of the decisions for me | 12.3% |
| My physician should decide himself what he does and doesn't tell me | 1% |
| I don't want to know anything at all about possible incidental findings | 2.2% |
| Don't know | 4.2% |
In contrast to existing diseases the participants' pattern of response was significantly different with regard to being informed about risks for a genetic disease. This became evident in Question (7) (Table 3). A majority of 66.1% answered that they wanted to be informed about every risk of a genetic disease. Fourteen percentage of the participants only wanted to be informed in case of an existing therapy, a further 14% would have declined the information and an increased portion of 5.4% were unsure how to decide. In Question (8), we referred to the existing scenario of a combined test regarding the risk of 250 different hereditary diseases (Table 3). This scenario showed in comparison to the broad acceptance of diagnostic knowledge a sharp drop in the acceptance of the participants with less than a quarter or 23.5% of participants who were sure to take part in such a test. However, an additional 24.9% of participants answered that they would “rather” take part in such a test, 15% of the participants answering “no” and 24.3% “rather disagreed.” 12.2% of the participants did not know how to decide.
In the last Question (9), it was asked whether there should always be information about the possibility of incidental findings before a medical examination (Table 3). Here, the pattern of answers was comparable with the high valuation of diagnostic knowledge in Questions (5) and (6) with 80.4% who affirmed the question (“Yes, in as much detail as possible”) and 12.3% of the participants who “would express [their] wishes […], but the physician should make most of the decision [for them]”. Only 1% of the surveyed persons agreed that “the physician should decide himself”, 2.2% declined to be informed about the possibility in advance, and 4.2% did not know how to decide. Regarding the possibility of a combined test for 250 disease predispositions, the participants were reluctant, although nearly half of them stated that they would take part or “rather” take part in such a test. Finally, four out of five participants supported the view that one should be informed before a medical examination about the possibility of an incidental finding (Table 3).
3.4 Part III: Under what conditions does the client want to be informed?
In the following Questions (10) and (11) (Table 4), participants were asked which circumstances they regarded as particularly important when being informed about a diagnosis. Thereby, the questions referred to a conventional medical finding (10) or the risk for a disease (12) (Table 4). As Questions (5) and (6) have already shown (Table 3) a majority of participants evaluated knowing about diseases as highly valuable. Also in Questions (10) and (11), a majority answered that they always wanted to be informed about medical findings ([10], 77.6%) or the risk for a disease ([11], 61%) (Table 4). This is line with the results of Questions (5) and (6).
| (10) What conditions are important for the decision whether your physician should or should not tell you about a finding regarding an illness?a | ||
| I always want to be informed about such a finding | 77.6% | |
| Depends on the severity | 17.4% | |
| Depends on whether it's treatable | 19% | |
| Depends on the inheritability | 16.3% | |
| I never want to be informed about such a finding | 0.2% | |
| I don't have an opinion about this question | 2.1% | |
| (11) What conditions are important regarding the question of whether your physician should or should not tell you if a risk is found?a | ||
| I always want to be informed about such a finding. | 61% | |
| Depends on the severity of the possible illness | 21.8% | |
| Depends on the certainty/uncertainty of the illness occurring | 22.8% | |
| Depends whether the illness will occur in the near or distant future | 14.4% | |
| Depends on whether it's treatable | 19.2% | |
| Depends on the preventive options | 22.0% | |
| Depends on the inheritability | 20.3% | |
| I never want to be informed about such a finding | 2.1% | |
| I don't have an opinion about this question | 1.7% | |
- a Multiple responses possible.
Regarding the specific kind of the medical finding or disease risk, a number of medically plausible options were presented to the participants. In Question (10) which was focused on conventional medical findings, each presented option was accepted by a minor part of the participants (Table 4). Thereby, the possibility to cure a disease was with 19% the most convincing option for the participants. However, it has to be considered that the agreement is here rather low in comparison to the general wish to be informed about a medical finding. In Question (11), participants were asked to evaluate which information about a disease risk they regarded as particularly important (Table 4). Next to “severity of the illness,” “possibility to treat,” and “inheritability,” some participants also stated to find “certainty of occurrence,” “occurrence in the near or distant future,” and “options for prevention” as important. In accordance with the results in Question (7) (Table 3), fewer participants always wanted to be informed about a mere disease risk (61%). However, also in Question (11), the number of persons who always wanted to be informed was much higher than the number of participants who think that the specific kind of a diagnosis is of particular importance. The kinds where this was seen as most plausible were “certainty of occurrence” (22.8%), “options for prevention” (22%), “severity of illness” (21.8%), and “inheritability” (20.3%) (Table 4).
3.5 Answer pattern in case of specific diseases
Part (3) contained questions regarding possible ways of being informed and the wish to be informed in case of specific diseases, that is, Alzheimer's dementia or hereditary breast cancer. To make the situation of a diagnosed patient more comprehensible, participants received a short fictional scenario before answering the questions.
In Question (12), participants were asked whether and how they wanted to be informed about a diagnosed predisposition for becoming sick with Alzheimer's disease in 10 years of time (Table 5). For the majority of participants (56.1%), it seemed reasonable to get comprehensively informed by their physician and to be referred to an experienced consultant. In comparison, about a quarter of participants (24.1%) were reluctant to be immediately informed. They preferred to be at first informed about an unspecific “abnormality” in order to have some time to consider whether they want to receive further information. Only a relatively small percentage of 9.8% stated, in this case, that patients' have a right not to know (Table 5). Question (13) targeted the wish to be informed about the predisposition for hereditary breast cancer in the family (Table 5). The question can be seen in relation to Question (7) (Table 3), as both questions ask whether participants generally prefer to be informed about the risk for a hereditary disease. As expectable and in line with Question (7), 62.5% of participants wanted, in any case, to be informed about such a predisposition. A further quarter of participants chose to “rather” want to be informed, whereas 9.2% wanted not or “rather disagreed” to be informed about the predisposition for hereditary breast cancer in the family (Table 5, aggregated numbers).
(12) During a study, it is discovered incidentally that you have a tendency to develop Alzheimer's dementia, which has a 50% chance of appearing in approx. 10 years. At the moment, you're healthy and feel well. If you do develop Alzheimer's dementia, you will experience increasing memory loss and then die of the Alzheimer's dementia within 10 years. What do you want if this happens? |
|
| Brief information and immediate referral to family practitioner/specialist | 56.1% |
| Just brief information and a copy of the finding for my family practitioner | 12.3% |
| Information if an “abnormality” is determined, with the option to have time to consider before receiving further information | 24.1% |
| No information, I have a right not to know | 9.8% |
| Don't know | 4.6% |
| Completely agree | Rather agree | Rather disagree | Completely not agree | Do not know | |
|---|---|---|---|---|---|
| (13) Several members of your family have hereditary breast cancer. If you have inherited the genetic predisposition for breast cancer, there are certain precautionary measures you can take. Do you want to know if you have the genetic predisposition? | 62.5% | 25.9% | 6.2% | 3% | 2.4% |
3.6 Part IV: The physician's duty of care
Part IV examined the participants' perspectives on conflicting normative principles for how to handle genetic knowledge. In Question (14), participants should decide whether the physician's duty of care or the patient's right to self-determination is more important (Table 6). In this general question, a clear majority of two-thirds of the study participants considered their right to self-determination more important. Astonishingly, 10.8% of participating persons were unsure how to answer the question and answered with “Do not know.” Only one-fifth of participants estimated the physician's duty of care as more important (Table 6).
| Duty of care | Right to self-determination | Do not know | |
|---|---|---|---|
(14) Which of the following do you think outweighs the other: The physician's duty of care towards you as a patient or your right to self-determination? |
21.5% | 67.7% | 10.8% |
| I agree | I reject being given information against my will | Do not know | |
| (15) You previously refused to be informed about incidental findings. However, your physician thinks it's important that you are told you have a disease. He thinks he has the responsibility and the right to tell you about it | 59.7% | 29.9% | 10.4% |
However, this answering pattern changed in the following Question (15) in which the duty of care was specifically applied to genetic knowledge (Table 6). The study participants were asked whether a physician should inform a tested person about incidental findings even when this person had demanded not to be informed. The question suggested a situation of urgency, where the physician sees it as her or his duty that an important finding is communicated to the patient. Although 29.9% of participants answered to stick to their original decision in such a case, the large majority of 59.7% wished to be informed in such a case, independent of their former decision (Table 6).
3.7 Part V: Informing third persons
The questionnaire's last part was centered on the important question of how to handle interests of third persons in the context of genetic testing. In Question (16), participants were asked whether relatives should also have the right to waive to be informed (Table 7). This position was supported by a large majority of 72.9% (41.9% completely agree, 31% rather agree), whereas 17.6% (rather disagree: 8.5%, completely not agree: 9.1%) did not see this as a right (i.e., a duty of the relatives to be informed), and 9.5% did not know.
| Completely agree | Rather agree | Rather disagree | Completely not agree | Do not know | |
|---|---|---|---|---|---|
(16) Should relatives have the right not to receive information about the genetic disorder or about the risk for the genetic disorder? |
41.9% | 31.0% | 8.5% | 9.1% | 9.5% |
| (17) A genetic test is performed on one of your relatives. If the result affects also you, do you want to be informed about it?a | |
| I always want to be informed about such a finding | 58.8% |
| Depends on the severity of the possible illness | 18.1% |
| Depends on the certainty/uncertainty of the illness occurring | 18.5% |
| Depends whether the illness will occur in the near or distant future | 10.2% |
| Depends on whether it's treatable | 21.2% |
| Depends on the preventive options | 19.4% |
| Depends on the inheritability | 22.3% |
| I never want to be informed about such a finding | 1.3% |
| Don't know | 3.8% |
| Completely agree | Rather agree | Rather disagree | Completely not agree | Do not know | |
|---|---|---|---|---|---|
| (18) Imagine your child wants to have a genetic test for a genetic disorder that your own mother died of. If the test finds that your child will get the disorder, then you will definitely get it, too. But you don't want to know that. Should your child be refused the test? | 0.6% | 2.0% | 21.0% | 70.6% | 5.8% |
| (19) Should various insurances (life insurance, occupational disability insurance, disability insurance, long-term care insurance) have the right to have their applicants/members tested for a genetic risk, to allow them perhaps to adjust the contribution amount according to the determined risk? | 1.2% | 2.2% | 8.8% | 83.2% | 4.6% |
| (20) Would you want to know already before the birth whether your child has a genetic risk for a genetic disorder? | 19.7% | 18.4% | 22.6% | 31.4% | 7.0% |
- a Multiple answers possible.
In contrast, in Question (17), it was asked whether the participants wanted to be informed when a relative receives a diagnosis which also affects the participant (Table 7). Comparable to the results above, 58.5% of the participants stated always wanting to be informed. A number of specifications were given on when to be best informed. Most of the given options seemed to be reasonable for approximately one-fifth of the participants (e.g., depending on the heredity, the possibility to cure the disease, or possibilities for prevention). However, the majority of participants stated to prefer to be informed in any case, and specifications seemed to be only reasonable for a minority of participants (Table 7).
The last Questions (18–20) focused on further aspects of genetic knowledge in regard to third parties (Table 7). In Question (18), it was confirmed that the vast majority of participants sees the relevance of a test result for a third person not as an obstacle for the concerned person to take part in a genetic test (Table 7). Question (19) shows that the study participants clearly reject a possible duty to inform insurances about test results. Ninety-two percentage of participants (8.8% rather disagree, 83.2% completely not agree) were not of the opinion that insurances have a right to know (Table 7). Finally, Question (20) focused on prenatal genetic diagnoses. In contrast to the genetic testing of an adult, the majority of 54% (22.6% rather disagree, 31.4% completely disagree) of the participants would not want to know a child's predisposition before birth (Table 7).
4 DISCUSSION
4.1 Positive expectations regarding predictive genetic knowledge and the “right to know“
The study participants' general pattern of answer indicates a very positive perception of medical and diagnostic knowledge; this is also true with regard to predictive diagnostic knowledge. According to their opinion, every new piece of knowledge is important, has to be communicated to the patient or client and could be helpful in the larger context. Interestingly, the group of participating physicians and other health care staff was in comparison less optimistic regarding the validity of predictive genetic knowledge. It can be concluded from the results of the questionnaire's Part II (see Table 3) that there is the prevalent wish among the surveyed persons to be informed about incidental diagnoses of genetic or other diseases in more than four of five cases. Additionally, the section shows that the participants made in general no distinction between already existing hereditary and nonhereditary diseases. This was different with respect to the mere risk of a hereditary disease; here, only two-thirds of participants wanted to be informed about the findings. This is still a large number but significantly smaller than in the questions regarding existing diseases. This positive understanding of predictive genetic knowledge is probably different from the experts in the medical field (see below) but affirms earlier empirical findings from Kleiderman et al. (2014), MacLeod et al. (2014), and Tercyak et al. (2011). This perception of diagnostic knowledge is also in accordance with the philosophical positions cited above (Rhodes, 1998; Sass, 1984).
MacLeod et al. (2014) conducted telephone interviews with 36 young participants between the age of 15 and 25 years, who had already had predictive genetic testing due to the risk of a hereditary disease in their family. The authors concluded that the participants showed in general “faith in medicine,” “belief in the ability of the medical profession to help,” and “hope that the science will lead to better treatments in the future” (MacLeod et al., 2014, p. 399). The results of our study confirm the qualitative findings of MacLeod et al. of this generally positive perception of genetic diagnoses and medicine as a science. The results from Questions (14) and (15) in Part IV show that despite a general acceptance of the right to self-determination, factual reasons like an incidental finding can move the study participants to advocate a more paternalistic approach. Obviously, the presumed advantage of being informed about an incidental finding was seen in this case by the majority of participants as more important than the general right to self-determination. However, this may depend on whether the concerned person's stance toward the clinical or other utility of predictive knowledge is shared or supported by the experts in the field.
Kleiderman et al. (2014) interviewed 15 parents of children affected by rare diseases. They found in the literature that persons with a family history of hereditary diseases may have different views on genetic testing than the healthy population, namely that members of such families have a more positive attitude toward genetic testing. This can also be the case for the participants of our study who were recruited in the context of genetic counseling or via patient societies. Especially for parents with an ill child, a relevant genetic result “can effectively end the diagnostic odyssey” (Kleiderman et al., 2014, p. 691), providing parents and physicians with a valuable orientation for further therapy. This shows that predictive genetic results can have another meaning for concerned persons than for non-affected persons. Kleiderman et al. report that participants generally “expressed an overwhelming interest in receiving the child's research results” and stated to have a “right to know” the results of their child (Kleiderman et al., 2014, p. 693). This positive evaluation of genetic knowledge was only limited in the case of fatal adult-onset diseases like Huntington's disease. Equally, the participating parents were convinced that researchers have a duty to inform them about incidental findings. In addition, the participants of our study were of the opinion that the extended family should be informed about relevant genetic findings as well. The study of Kleiderman et al. (2014) coincides, therefore, with a number of findings in our study. However, one of the authors' main premises, that is, that persons with a family history of hereditary disease have different perceptions of genetic tests than healthy persons, is in the end not supported by the empirical findings of our study. This is from our perspective an astonishing finding which deserves further attention in future studies.
Tercyak et al. (2011) conducted a questionnaire study with 219 parents about their attitudes toward a possible so-called “multiplex” genetic test for their child. The test was said to examine the susceptibility for a number of polymorphisms related to eight common diseases (frequent types of cancer, cardiovascular, and metabolic diseases or dysfunctions). However, as the authors describe, “[t]he challenge for health care providers is that these tests have not been shown to have clinical utility (i.e., prevent or reduce adverse health outcomes)” (Tercyak et al., 2011, p. e1289). The authors found out that the participating parents nevertheless found it very important to be informed about their children's genetic health determinants (Tercyak et al., 2011, p. e1291). They concluded that the participants have in general a too positive assumption of the validity of such genetic tests and “may not accurately anticipate their full range of reactions to risk information” (Tercyak et al., 2011, p. e1293). The results of these studies are confirmed by our questionnaire study, where the right to know was broadly affirmed (Questions 1, 5–7) and the participating persons wanted to be informed beforehand about possible incidental findings (Question 9). Additionally, the influence of the educational level and the status as health professional on the decision to be informed in our study shows that these participants had a more realistic appraisal of the concrete benefit of genetic testing.
4.2 Distinctions and differentiations regarding disease, disease risk, and the meaning of predictive knowledge
It is a common assumption in genetics and clinical medicine that the meaning of a finding or diagnosis depends on the circumstances and the clinical utility, for example, whether a specific therapy exists (Rolland & William, 2005, p. 17). This understanding of genetic knowledge has also found entrance into scientific guidelines, for example, in the guidelines of the German Society for Human Genetics. With respect to incidental findings, the society recommends that tested persons should be informed when there is “a relevant risk for a genetic disease, an effective therapy or preventive measures exist” (German Society for Human Genetics, 2013, p. 2, translation by the authors). It was one of the goals of the present study to examine whether this understanding of the usefulness of predictive genetic knowledge is also shared by the study population.
However, one of the most important findings was that the study participants, in general, are not of the opinion that passing information of genetic testing on to patients should depend on whether this information concerns a conventional, manifest, hereditary disease, or a future disease risk. This gives reason to assume that—from the perspective of the participants—predictive knowledge is not only of clinical or practical use but has a worth of its own. Only about one-fifth of the study participants see it as reasonable to differentiate between above mentioned topics (see Questions 10, 11, and 17). In contrast, the large majority of the participants favors being informed about all kind of genetic and medical findings.
Comparable with the findings in our study, Lawrence et al. described that young adults at risk for a genetic disease made no adequate difference between risk and manifest disease, that is, “participants routinely conflated genetic risk with having a medical disorder” (Lawrence, Friesen, Brucato, Girgis, & Dixon, 2016, p. 196 f). The authors conducted half-structured interviews with young adults who had a high risk of developing a psychotic disease. They found that the test result was expected by the participants to trigger possible fears, namely “the idea that something terrible could happen to you” or “fear of one's child developing schizophrenia” (Lawrence et al., 2016, p. 194). Participants also expected that “they would be treated differently” in case of an existing genetic predisposition due to the stigma of mental illness; also, they expected that physicians would pay more attention to the test results than to the patients' statements (Lawrence et al., 2016, p. 195).
In light of these collective findings, it must be understood that in our study, the answers given by physicians and medical students often diverted from those of patients and laypersons. This might be due to the fact that these participant groups are better informed about the limitations of genetic knowledge and resulting clinical benefits. This interpretation is also supported by other publications in the field of diagnostic genetic testing in psychiatry (Appelbaum & Benston, 2017; Lázaro-Muñoz et al., 2018).
5 CONCLUSIONS
Our survey sheds new and detailed light on how today's patients, physicians, and laypersons evaluate different kinds of genetic knowledge and what rights and duties are assigned in this context to different participant groups in medicine and healthcare. For example, a huge majority of 90.7% of the interviewed persons are of the opinion that a person has the right to learn every aspect of her or his genetic make-up. Similarly, study participants showed a high interest (81.8%) in incidental health care findings—independent of whether these are treatable or not. One can derive from the data that study participants do not follow the implications of a “genetic exceptionalism” and often tend to treat and evaluate genetic findings similar to conventional medical diagnoses. The predominantly positive evaluation of genetic knowledge exists despite the perception of existing critical issues, for example, a possible social discrimination of diagnosed patients (50.8%) or a psychological burden or damage through a major predictive genetic diagnosis (75.2%). Another important result has to be seen in that a majority of participants is of the opinion that in some cases physicians should communicate a medical diagnosis even when the patient originally did not want to be informed. From the study participants' point of view, the physician's duty to care seems to outweigh the patient's right to autonomy in these cases. This would speak—at least in this situation—against an “absolute” understanding of patient autonomy: This means that, under some circumstances, patients would accept to receive information regardless of their initial opinion. The participants seem to anticipate that new information could make it necessary to reconsider their original stance and to try to adjust to the fact that it is not possible to foresee all diagnostic details and consequences of genetic testing (Duttge, 2016, p. 668).
One of the key results of this questionnaire survey is without doubts that more than 90% of the participants took the view that patients have a right to know medical diagnoses and diseases. In a way, this result is also leading the way to the results of the more detailed questions concerning the right to know. This result is even more interesting with regard to the fact that more than 50% of the participants stated that genetic knowledge can be ambiguous and also burdening from the psychological point of view. However, this could also point to a certain lack of awareness for the societal and personal implications of genetic diagnosis (e.g., difficulties to get life insurance with acceptable conditions). With respect to the medical context, more than 80% of participants want to learn every incidental finding in the course of a diagnostic procedure. In contrast to what is claimed in many ethical and sociological debates, the overwhelming majority of participants are no genetic exceptionalists and make no fundamental distinction between genetic and other medical diagnoses. In both cases, four out of five persons want to know every result of a diagnostic examination. However, as we know from the medical literature and recommendations, projects and institutions of medical research are normally not prepared to inform research participants about all kinds of incidental findings. For instance, researchers in the field of whole genome sequencing question whether it is reasonable to give research participants deeper insight in often unconsolidated genetic research findings (EURAT Project, 2016, p. 70). Therefore, the results from our survey also highlight the importance to decide already in the run-up of a genetic testing which findings should be communicated and which should not.
This has to be seen differently when it comes to knowing about the mere risk or predisposition for a disease. In this case, only two-thirds of participants want to be informed. However, this is a rather large number in comparison to the expectation of experts, who regularly doubt the benefit of genetic information on the predictive risk of a patient to develop a disease in the future (Buzzetti et al., 2017). Maybe this result can be interpreted in such a way, that this group of participants is interested in knowing the genetic risk independently from an existing tangible benefit. The results in the case of the risk or predisposition for a disease differ strongly from the results for the questioned test of 250 disease predispositions, where only about one-fourth of participants stated that they would take part. What is also of interest for the current debate on incidental findings is the study's result that four out of five of the participants want to be informed about the possibility of incidental findings before being tested. In contrast, literature favors models where information is selected and reduced—which might be due to the assumption that it is too complicated for patients to understand each detail of a genetic diagnosis. In strong contrast to this assumption, 78% of this study's participants want to be informed in any case and independent from the severity, curability, or heredity of the possible disease.
Other findings were more in accordance with general assumptions about medical and genetic diagnoses. For example, a majority of 70% thought that relatives should also have the right to forgo to be informed about hereditary diseases in the family. On the other hand, nearly two out of three of the participants (60%) would prefer to be informed about diseases in the family they might be predisposed to as well. That an obligatory genetic test for the acceptance of insurance was broadly refused by 90% of the participants is of special interest for the situation in Germany. However, according to the German Law on Genetic Diagnosis, persons with a genetic diagnosis are in some cases obliged to inform the insurance before drawing up a new insurance policy (due to more expensive insurance contracts).
The data from the questionnaire survey shows that genetic knowledge in general and genetic diagnoses in particular are of particular importance for patients, persons in genetic counseling, and healthy lay persons. The comparison of the participants' answers and demographic information showed that whether participants work in the healthcare area or not had an important impact on their pattern of response. At the present point of time, international guidelines, conventions, and national laws often provide only little indication on how to deal with important implications of new genetic knowledge, particularly with regard to the patient's right not to know and the physician's or geneticist's duty to care. The data from our questionnaire survey help to make these issues more concrete and show where the recipients of genetic knowledge see advantages or problems. This should be used to create a patient-centered regulation of genetic knowledge in the future. Certainly, the task of comprehensively examining and interpreting the wishes and demands of persons who undergo genetic testing is not completed with the present survey. From our point of view, the survey results show, on the one hand, the paramount importance to adequate inform concerned persons about the possibilities of genetic testing and, on the other hand, the urgent necessity to be responsive to the needs and demands of persons and families who undergo genetic testing.
ACKNOWLEDGMENTS
We want to cordially thank Katharina Fürholzer, PhD and Pranab Rudra, MSc for their linguistic support.
CONFLICT OF INTEREST
The authors declare that they have no conflict of interest and that the research for this publication was carried out in accordance with the Declaration of Helsinki of the World Medical Association.
