Community Involvement in Developing Policies for Genetic Testing: Assessing the Interests and Experiences of Individuals Affected by Genetic Conditions

Abstract

Because the introduction of genetic testing into clinical medicine and public health creates concerns for the welfare of individuals affected with genetic conditions, those individuals should have a role in policy decisions about testing. Mechanisms for promoting participation range from membership on advisory committees to community dialogues to surveys that provide evidence for supporting practice guidelines.

Surveys can assess the attitudes and the experiences of members of an affected group and thus inform discussions about that community’s concerns regarding the appropriate use of a genetic test. Results of a survey of individuals affected with inherited dwarfism show how data can be used in policy and clinical-practice contexts.

Future research of affected communities’ interests should be pursued so that underrepresented voices can be heard.

Scholars increasingly argue that the public should participate in policymaking decisions, particularly policies related to health,1 because the public has a huge stake in health policy: it is likely to both reap the benefits and pay the costs.2 Public involvement also realizes the goals of a participatory democracy3 and may create more representative and accountable policies.4 Furthermore, involving the public may foster community engagement and may eliminate exclusion or elitism on the part of policymakers.1,5 Values are often involved in health-related policy decisions that both the public and the “experts” can deliberate.6,7

Mechanisms for engaging the public in specific policymaking activities have become common and have been employed in the United Kingdom,4,8,9 Canada,10 and most notably the United States during the priority-setting experience in Oregon.11 While there are many possible methods for engaging the public, these mechanisms have not been adequately evaluated. There are still conceptual problems with articulating the goals of public participation, with defining the relevant “publics,” and with using public attitudes to inform policy decisions.12–14

Including public perspectives is similarly important, but no less problematic, to establishing public health policy about genetic testing.15–17 Screening-policy guidelines describe “acceptability to the population” as one important criterion for assessing the appropriateness of a screening program, along with considerations about the impact of the condition, the cost-effectiveness, and the validity and reliability of the test.18,19 Burris and Gostin emphasize “acceptability to the population” as 1 of 3 ethical principles for deciding whether a genetic test should be used in a public health screening program.20

Childress et al. consider public participation, including that of “affected parties,” an important moral consideration for public health.21 Indeed, involving and engaging the relevant communities has proved to be essential for good screening-program outcomes, as the carrier screening for sickle cell anemia and the more successful screening for Tay–Sachs disease during the 1970s made evident.22

Community input can have value throughout the process of developing a genetic test for clinical and public health applications. For example, particular communities can be involved in mobilizing the initial genetics research that may lead to a test.23 Additionally, an assessment of a community’s attitudes toward a genetic test may elucidate the ethical acceptability of making that test available. Moreover, an empirical assessment of community demand may suggest how profitable a given commercial test might be, which is of importance to the laboratories that may consider offering such a test. Finally, once a test becomes available, community interest and concerns may shape practice guidelines that surround the incorporation of that test into routine clinical care.

We review reasons why affected community member concerns about genetic tests in general and prenatal tests in particular are especially salient, and it describes some methods for including these perspectives in the development of genetics policy. As an example of research that can be applied to policy, we discuss our survey that assessed the attitudes of a sample of individuals who have achondroplasia—the most common type of dwarfism—toward prenatal testing for this condition.

Including Public Perspectives in Genetics Policy

As new genetic tests are introduced into public health and medical practice, there are many medical, scientific, ethical, legal, and social concerns that must be considered.24,25 Predictive genetic testing for adult-onset diseases raises concerns about (1) screening in the absence of effective interventions, (2) the ethical acceptability of screening children,26 and (3) the prospect of complicated decisionmaking and counseling.27 Carrier testing raises concerns about reproductive decisionmaking and psychological effects.28 Any genetic test will invoke complex considerations about privacy, confidentiality, and familial implications29 in the context of information that is challenging to both communicate and understand.30 Prenatal genetic testing raises additional questions: To whom should specific prenatal tests be offered—those who have the condition, those who have a family history of the condition, or the general public? What kind of information and counseling should be available to consumers of prenatal tests? What are the implications of prenatal testing for individuals who have disabilities, and how should their views influence clinical practice? Potential consumers of genetic services, especially those consumers who are affected by genetic conditions, may provide useful guidance about any of these policy issues.31–33

The role of community concerns in genetics research.

The notion that community perspectives should be given special attention in genetics research is the result of research findings within the last decade. In response to research that indicated Ashkenazi Jews have a higher carrier frequency of genes that predispose them to breast and ovarian cancer34 and colorectal cancer,35 Weijer suggested that “respect for communities” should be considered as an ethical principle when evaluating human-subjects research.36 Genetics research introduces novel concerns for communities, notably the potential for stigmatization and discrimination of certain groups on the basis of genetic findings,37–39 which suggests a role for community review or community consent when evaluating genetics research.40–44

“Affected community” concerns.

While community can evoke a range of group characteristics,36 our discussion is focused on the involvement of communities affected by genetic conditions. There are fundamental conceptual challenges associated with defining the community,45 the legitimacy of community representation,43 and deciding which community voices should be solicited—those who have a given condition, those who have a family history of a given condition, or representatives of the general public. Affected individuals who are coping with and adapting to their condition often describe their condition as less serious, and their own quality of life as better, than unaffected individuals perceive it to be.46–49 This phenomenon reflects the ability that affected individuals have to view their condition more favorably in their adaptation to its negative consequences on their lives. Recognition of this bias has resulted in the claim that affected individuals are unable to judge their condition from an objective perspective that is needed to assess public health priorities.50 However, the general public and health care providers may be negatively prejudiced against those who have disabilities; they may overestimate the impact of having a disability because they do not have the condition themselves.51,52 One way to counter any discrimination is to involve underrepresented individuals in the policymaking process.

Affected individuals should be involved not only to counteract discriminatory attitudes but also to share valuable experiences and perspectives that can inform specific policy decisions. The history of the AIDS and breast cancer advocacy movements in the United States shows the critical role that members of affected community groups can play in developing health policy.53,54 These groups have helped to shape policies about clinical trials and consent, access to drugs, and research-funding decisions. Similarly, the expertise of individuals who have genetic conditions can provide critical contributions to genetics-related policies. Affected individuals may be well-equipped by virtue of their experiences to assess the educational and counseling needs of clients who seek genetic testing and thereby provide vital information for shaping policy.55

Disability implications of prenatal genetic testing.

Prenatal genetic testing elicits special concerns for individuals who have genetic conditions. These individuals may perceive the availability of prenatal genetic testing as evidence of pervasive negative attitudes toward life with a disability, because termination of affected fetuses remains the predominant option when a condition is detected.56 Furthermore, affected individuals may believe that health care professionals overemphasize impairment rather than social factors as the defining characteristic of disability and therefore promote eugenic outcomes through their endorsement of prenatal testing.50,57 There is a diversity of views about prenatal testing among the general public, genetic professionals, bioethicists, and disability communities.58 However, there has been little representation of the disabled community’s opinions when developing genetics-related policy about use of prenatal testing.50 As Tom Shakespeare—a sociologist who has achondroplasia—said, “If we are to understand the implications of impairment, and make appropriate decisions about individual and societal screening options, then we need to listen to those people directly affected by genetic conditions . . . Disabled people are not consulted on matters which affect us: professionals, unrepresentative charities, and governments, all make decisions about disability, without considering that the best experts on life as a disabled person are disabled people themselves.”50^(p673) Shakespeare concluded that research into the views of disabled individuals and greater participation of the disability community during the policymaking process are important future priorities.

The Public and the Genetics Policymaking Process

There are a range of levels of public participation that can be pursued, from information exchange to consultation to decisionmaking authority.6,12 Recent research has focused on the merits of deliberative methods.59,60 Scholars have outlined at least 8 different mechanisms6: voting on particular referenda, public hearings, attitude and opinion surveys,61 negotiated rule making, consensus conferences,62 citizens panels, advisory committees, and focus groups. However, there has been limited empirical evidence to evaluate which of these mechanisms is best for a given policy situation.6 The following describes ways in which some of these mechanisms have been used for genetics policy considerations.

Consultation with, and membership in, policymaking groups.

Public participation was a priority of the former US Department of Health and Human Services Secretary’s Advisory Committee for Genetic Testing, which launched a public consultation effort through targeted mailings, web consultation, and public meetings to hear public perspectives about the oversight of genetic tests.63,64 The active Secretary’s Advisory Committee for Genetics, Health, and Society also seeks public comment. Layperson membership on an advisory committee is another way to achieve a public representation in the policymaking process. However, consumers may be underrepresented on advisory committees that consider genetics-related issues. Of the 73 individuals Ard and Natowicz identified on advisory committees responsible for genetics policy documents created between 1990 and 1995, only 8 were members of the lay public,65 and only 26 of 51 state newborn-screening programs identified in 1995 had consumer representatives on their advisory committees.66 Public representatives on advisory committees are necessary, but this mechanism may not be sufficient because members do not represent a plurality of views, and disability perspectives are unlikely to be adequately represented. Furthermore, these groups are often politically driven, and the members are appointed to represent particular perspectives. These factors limit the effectiveness of this type of participation.

Patient advocacy groups.

These groups and the professional societies that represent consumer groups67 can play a role in promoting the interests of greater numbers of people. One such group is the Little People of America (LPA), a nonprofit support organization that represents individuals who have short stature and their families, including those who have achondroplasia. In 1996, after the development of the genetic test for achondroplasia, the LPA issued a policy statement about genetic discoveries.68 The statement acknowledged the existence of a range of opinions about the appropriate use of the prenatal test, but the LPA evoked a community concern that the prenatal test might be used by all expectant mothers and thereby potentially reduce the number of babies who are born with dwarfism. Policy statements such as this one aim to communicate a collective informed opinion so that voices of the community can be heard. However, these efforts are limited to the contributions of active members of the organization and cannot be generalized to everyone who has a particular condition.

Collaborative efforts.

Policy recommendations also can be created through deliberative efforts with public representatives. For example, the New England Regional Genetics Group (NERGG) produced a “joint consumer-provider document” that outlined optimal genetics services for its region.69 This group of professionals and 4 consumer members held 3 focus groups with consumers. They incorporated the results of these focus groups into the final document, Optimizing Genetics Services in a Social, Ethical, and Policy Context.69 A different approach to engaging the public has been used in Michigan and Alabama.70 The Communities of Color and Genetics Policy Project used community dialogues in cities throughout these 2 states to gather information about the values and the policy recommendations of communities of color. Recommendations covered the areas of trust/distrust, education, privacy, genetic testing, access to genetic testing, genetic research, and concepts about “playing God.”71 The Partnership for Genetic Services Pilot Program, which is affiliated with the Genetic Alliance, is a creative collaborative approach to engaging physicians and medical students around genetics issues. The program introduces families and individuals who have genetic conditions to these medical professionals as a way to expose the professionals to some of the social and quality-of-life issues these individuals and families experience.72 Other Alliance-organized programs are the Consumer Voices Network and the Consumer Indicators of Quality Genetic Services, a program that uses focus groups with consumers to develop a set of consumer priorities for genetic service delivery. These labor-intensive methods, which likely influence local policies and practice, are often confined to particular geographic areas and the demographics of the populations involved. National use of focus groups, while more representative, introduces additional time and costs.

Survey research.

All of the aforementioned approaches promote public involvement in the development of genetics-related policies and should continue to be pursued. Additionally, carefully designed surveys can represent the opinions of large numbers of affected individuals and can play a role in communicating the views of particular communities about genetic testing. Survey data provide broader representation of community views than representatives of advisory committees, advocacy groups, or those involved in collaborative policy discussions do—many views can be assessed, not just the views of those who are the “loudest” or the most politically powerful. While surveys may represent a more inclusive way to assess community attitudes toward a particular test, they are not a substitute for more deliberative public debates.6

Surveys have been conducted to assess community attitudes toward prenatal testing and reproductive decisionmaking within communities of family members, patients, or both who have genetic conditions, including cystic fibrosis,55,73 Parkinson’s disease,74 Huntington’s disease,75 neurofibromatosis,76 hereditary deafness,77,78 bipolar disorder,79 Charcot–Marie–Tooth syndrome,80 retinitis pigmentosa,81 Alport syndrome,82 and hereditary ataxia.83 Results from these and similar studies should be routinely considered when developing evidence-based clinical-practice guidelines. These data will allow for the prediction of the potential use of genetic testing and whether genetic testing or prenatal diagnosis is a valuable option for patients and families who have experience with a given condition. Data also may help to assess the counseling and educational needs for others who know less about living with one of these conditions. Such information also is important for professional societies, such as the American Society of Human Genetics84,85 or the American College of Obstetricians and Gynecologists,86 to consider when developing practice guidelines about the implementation of particular genetic or reproductive technologies into public health and clinical practice.

Attitudes of Individuals With Achondroplasia

Shortly after the 1994 discovery of the genetic mutation that causes achondroplasia, prenatal testing for the condition became available. This relatively simple test could be particularly useful for couples wherein both individuals have achondroplasia. These couples have a 25% risk for having a child who has homozygous achondroplasia, a condition that is fatal within the first months of life.87 Within the community of adults who have achondroplasia, it is not uncommon for affected individuals to marry and have children and thus face this risk. Prenatal testing allows parents to consider termination of an affected fetus. The research team that discovered the point mutation responsible for achondroplasia predicted that prenatal diagnosis would become relatively facile; however, these researchers, seemingly wary of the implications of identifying fetuses that have achondroplasia in the general population, stated that any use of the prenatal test “other than for the screening of at-risk pregnancies” should be “prohibited.”88^(p341)

In response to this discovery, we administered a survey to (1) assess the level of awareness of and interest in prenatal genetic testing for achondroplasia, (2) assess attitudes toward population use of the test, (3) identify factors associated with intentions to undergo prenatal genetic testing, and (4) assess the quality of life, self-esteem, and perception of the condition among individuals who have achondroplasia and the parents and siblings of those affected.89,90 The study population consisted of 189 individuals who had achondroplasia and 136 first-degree relatives. The goal of the research was to explore the needs and concerns of the individuals who are most likely to use prenatal testing and who are likely to have an informed opinion about the broader applications of the test. Additionally, the quality-of-life results can be used to help genetics professionals and policymakers consider whether the impact of achondroplasia on the life of affected individuals justifies population screening of pregnancies. Finally, the research can help genetics professionals and policy-makers understand the educational and counseling needs of other potential users of the test.

Our study results were limited by a low response rate and an ethnically homogenous sample. However, the study suggested that most participants were aware of the availability of prenatal testing, although less than 10% had used it.90 While 87% of the 325 respondents would support the use of prenatal screening by affected parents at risk for carrying a fetus that has homozygous achondroplasia, only 29% would support populationwide prenatal screening for achondroplasia.91 Overall, neither affected individuals nor relatives were interested in using the test to terminate pregnancies on the basis of a diagnosis of achondroplasia or average stature, but they would use the test to diagnose homozygous achondroplasia.90 Individuals’ perception of the condition was related to their attitudes toward screening, with those individuals who judged the condition as more severe being more likely to agree that the prenatal test for achondroplasia should be available for general population use.91 Individuals who had lower quality of life were more likely to support the use of prenatal testing by affected individuals. While our data suggest that practice guidelines should endorse making prenatal testing for homozygous achondroplasia generally available to couples who have achondroplasia, the variation in views and experiences among our sample suggest conflict with populationwide prenatal screening for achondroplasia. Policies that support improving the quality of life for people who have achondroplasia are more in keeping with the survey results than are practice guidelines that endorse population screening for the condition.

One Community, Many Experiences

Our data suggest that to speak of any single achondroplasia view toward prenatal testing would be inaccurate. Like any heterogeneous group, individuals who have achondroplasia experience a range in their quality of life and have differing views about prenatal genetic testing. The data support a concept Shakespeare described, which reinforces the value of eliciting the interests of affected individuals: “Disabled individuals will have different views on genetics, depending on their own experiences and outlooks: some will welcome screening, because of the suffering they have personally experienced. Others will oppose screening, because it is very difficult to support a practice which would have prevented one’s own existence. It is important . . . to develop rational arguments about the value of disabled people’s lives and their views, which are likely to be varied and reflective.”50^(p674)

Individuals who experience greater difficulty in their lives because of a condition may be more supportive of the use of prenatal testing for their condition by other future parents. Variability in the experiences of individuals who have disabilities creates variable perspectives toward use of prenatal testing, which is a fact policymakers must recognize. As Davis said in describing another heterogeneous community, “One cannot speak quickly about inviting participation from ‘the deaf community’ without taking seriously its many facets.”43^(p42) The same is true of the achondroplasia community and their many perspectives toward genetic testing: there is no single achondroplasia view toward testing that may be captured by a single policy statement or by a representative of the community. Moreover, the concerns of individuals who have achondroplasia will not be representative of the concerns of other groups that have genetic conditions of varying severity and complexity. While our study illuminates the ways in which survey data can provide evidence about the range of attitudes toward genetic testing within one particular community, other communities will have different attitudes, issues, and perspectives that researchers must assess before developing policies relevant to those communities.

Capturing a Spectrum of Community Perspectives

Because of the challenges inherent in defining a community and describing its views, methods for assessing affected community attitudes must be thoughtfully pursued. To elicit generalizable findings, studies should strive to include large samples and to aim for high participation rates. Data about the quality of life of individuals who have genetic conditions and their interests related to genetic testing should be used to inform policy decisions. Policies, such as clinical-practice guidelines, should not be based on potentially erroneous assumptions about how populations would use genetic testing. For example, in our study population, few affected individuals would use prenatal testing to terminate normal pregnancies, despite common assumptions to the contrary.92 Such data is imperative when developing guidelines about which individuals should be offered prenatal genetic testing.

Research findings also could be used to better inform clinical practice. The type of information clinicians provide to parents who are considering prenatal testing is likely to shape their reproductive decisions.93–97 Providers should offer information about the quality of life of affected individuals to couples who are considering prenatal screening. The information provided to parents about prenatal tests should be based on evidence94 and should reflect data obtained from affected individuals and parents and others who have experience with the condition. Quality-of-life data may better inform providers and avoid reliance on misguided assumptions or anecdotal evidence about what having a genetic condition is like. Asch has called for a consistent educational approach in the prenatal context: “Everyone obtaining testing or seeking information about genetic or prenatally diagnosable disability [should] receive sufficient information about predictable difficulties, supports, and life events associated with a disabling condition. Such information . . . should include, at a minimum, a detailed description of the biological, cognitive, or psychological impairments associated with specific disabilities, and what those impairments imply for day-to-day function.”57^(p1655)

Empirical descriptions of affected individuals’ quality of life—elicited from participatory research mechanisms—should be the first step toward the degree of comprehensive educational information that Asch demands. Evidence-based educational information is especially important because of the marketing pressures98 and the social and clinical pressures99 to pursue testing that individuals may experience.

Balanced data that represent the perspectives of individuals who have genetic conditions can guide policy decisions and also can contribute to making health care providers and the general public more informed about the variable experiences of affected individuals. Survey research and other participatory mechanisms, such as membership on advisory committees, policy statements by advocacy groups, and collaborative policy efforts, should be pursued so that affected individuals’ voices will be considered during policy development. Finally, there is a concurrent need for additional conceptual analyses to clarify which communities should be included and how to balance their contributions with competing policy considerations.