The relationship between the genetic counseling profession and the disability community: A commentary

Abstract

Since the inception of the field of genetic counseling, the profession has had a tenuous relationship with the disability community. Genetic counselors both offer prenatal diagnostic testing that allows individuals the opportunity to avoid the birth of a child with a disability and they advocate for the rights of individuals who have a disability. Some in the disability rights community have argued that they feel their lives and the lives of the disabled individuals in their families judged by the offer of prenatal genetic diagnosis and by the attitudes of genetic service providers they encounter in clinical settings. Select voices from the disability community fear that the result of developing technologies may contribute to a world less tolerant of disabilities. The available empirical data suggest that genetic counselors do little to counteract these perspectives. Although limited, investigations into the attitudes and practices of genetic counselors suggest that they have a more negative perspective on disabilities than individuals whose lives are directly affected by them and these attitudes may affect their description of disabling conditions in a prenatal setting. The National Society of Genetic Counselors, the organization that represents the profession in the US has more publicly aligned itself with abortion service providers over disease advocacy organizations, thus subjecting itself to the perception of bias. We suggest possible solutions to these criticisms and argue that individually and collectively, genetic counseling professionals should develop and identify opportunities to more fully support and advocate for the needs of a broader spectrum of clients. © 2011 Wiley-Liss, Inc.

INTRODUCTION

A remarkable and critical juxtaposition exists in genetic counseling practice. Genetic counselors simultaneously represent and advocate for the rights and opportunities of those affected by disabling conditions1 on the one hand; and offer parents reproductive opportunities to avoid having children with disabilities on the other. Achieving a balance among the needs, values, and priorities of both client groups can be precarious. In 1999, a Hastings Center panel published proceedings that address the tension that arises from the simultaneous offers of prenatal testing and advocacy for individuals with disabling conditions and their families [Parens and Asch, 1999]. These proceedings offer guidelines for improving genetic counselors' understanding about living with conditions that result in disabilities, and expanding prenatal genetic counseling to include more in-depth discussions of these conditions. Yet the panel reached no consensus about how to authentically support and value reproductive options for individuals interested in abortion and the undeniable worth and contributions of those affected with disabling conditions.

These disparate priorities of genetic counseling practice have resulted in a tenuous relationship between genetic service providers and the disability community [Resta, 1992]. In this Commentary, we explore some of the individual and organization underpinnings of this fragility. We outline the limited studies of genetic counselors' attitudes and practice, the disability and advocacy community's perceptions of genetic counseling and prenatal genetic testing, provide examples of bias in the National Society of Genetic Counselors's (NSGC) relationships, and suggest possible steps to address these issues. We argue that to authentically serve and support individuals and families with disabilities, those who practice genetic counseling must individually and collectively strive to more firmly establish and maintain relationships with members of the disability community, as well as professionally and clinically convey a more balanced view of living with disabling conditions alongside opportunities to support reproductive choices. Those who practice genetic counseling hold much responsibility in meeting the needs of both client groups and in neither favoring, nor even appearing to favor, one client group over the other.

GENETIC COUNSELORS' PRACTICE AND ATTITUDES

Due to the very nature of their work, genetic counselors are in a position to inadvertently or purposefully influence clients' parenting decisions and perceptions of disability. Awareness of the responsibility this engenders to clients, and the historical tie between clinical genetic services and the eugenics movement, led early Masters-trained genetic counselors to adopt “nondirectiveness,” as a tenet of the newly established profession [Resta, 1992, 1997]. As the profession has evolved, the definition, attainability and desirability of nondirectiveness has been repeatedly questioned and dismissed by investigators and clinicians [Clarke, 1991; Kessler, 1992, 1997; Wolff and Jung, 1995; Michie et al., 1997; Williams et al., 2002; Weil, 2003]. Particularly in the context of prenatal genetic counseling and testing, scholars and investigators have expressed concern that the process of genetic counseling and prenatal genetic testing is inherently directive in a way that is biased against individuals with a disability [Asch and Fine, 1984; Kaplan, 1993; Paul, 1998; Anderson, 1999; Suter, 2002; Williams et al., 2002; Asch, 2003; Epstein, 2003]. Some genetic counseling clients and parents of children with disabilities share this perspective. Recent high profile mainstream media articles have included individual's descriptions of feeling judged as a direct result of the availability of prenatal testing that could lead to the termination of a fetus with disabilities (e.g., “Whenever I'm out with Margaret, I'm conscious that she represents a group whose ranks are shrinking because of the wide availability of prenatal testing and abortion [Bauer, 2005].” “Those who escape the net of screening are often viewed as mistakes or burdens. A tragic choice becomes a presumption—“Didn't you get an amnio?”—and then a prejudice [Gerson, 2008].”) [Will, 2007]. Similarly, in the research literature patients have recounted negative experiences with genetic counselors [Helm et al., 1998; Rapp, 2000]. These challenges to the profession may be difficult to accept because they contradict the profession's goals and intentions as reflected in its definition [The National Society of Genetic Counselors' Definition Task Force, 2006]. However, we believe that since its inception 40+ years ago, the profession has matured sufficiently that it can openly confront the tension that exists between the disability and genetic counseling communities and consider its foundation in genetic counseling practice.

To frame a discussion about genetic counselor practice, it may be helpful to consider data on the current roles of genetic counselors. The 2010 NSGC Professional Status Survey indicates that 83% of responding genetic counselors counsel patients as part of their regular job responsibilities and the majority of genetic counselors spend >50% of their time on a daily basis in a prenatal (39%) or pediatric (17%) clinic [NSGC, 2010c]. Although the 2010 Professional Status Survey asks respondents to identify specific professional activities in which they were engaged in the past year, only 2 of the 18 possible responses might provide opportunities to learn more about what it is like to live with a disability. So, it is not possible to estimate how much time counselors, regardless of practice area, spend with individuals with a disability outside of the clinical setting. Data from the Professional Status Survey does not provide insight into genetic counselors' attitudes and practice with regard to disability. For this data, we review the limited research on genetic counselors' values and beliefs, their personal prenatal testing decisions, the nature of disability discussions within prenatal genetic counseling sessions and some of the social biases that form the backdrop of genetic counseling.

What are genetic counselors' values and beliefs with respect to disability? One of the first studies to investigate this question was conducted by Cooley et al. [1990]. The investigators evaluated genetic counselors' beliefs about Down syndrome by analyzing genetic counselor and parent responses to a video describing parents' experiences in raising a child with Down syndrome. Investigators found that the two groups' responses differed significantly with 14% of 29 genetic counselors versus 89% of 36 parents feeling the film accurately portrayed parental experiences. The majority of the genetic counselors who viewed the film rated it as being “too positive,” and they were more likely than parents to perceive that the problems of parenting a child with Down syndrome outweighed the benefits [Cooley et al., 1990]. Ahmed et al. [2007] found similar results in the United Kingdom when comparing responses of 18 health care providers/trainees (including six practicing genetic counselors/registrars), ten parents of children with disabilities and 14 “potential users” to a website developed to provide balanced information about disability. These responses were collected via focus groups and the study was not adequately powered to identify statistically significant effects. Ormond et al. [2003] found that the 12 genetic counseling students in their sample tended to focus on the medical or functionally impaired aspects of disability when assessing the quality of life among persons with disabilities. In contrast to these findings, brief interviews with 116 practicing prenatal genetic counselors [Lardy et al., 2003] suggest that most acknowledge positive and negative aspects of Down syndrome and appreciate that people with Down syndrome can have friendships, hold jobs and go to school. Paradoxically, by self-report, very few of the counselors point out these abilities in their descriptions of Down syndrome to prenatal clients [Lardy et al., 2003].

As a surrogate for attitudes toward disability, researchers have sought to characterize genetic counselors' personal prenatal testing choices. The results of these studies depict genetic counselors' prenatal testing behaviors as substantially different from those of the general population. For example, Knutson and Amacker-North [1989] found that 96% of genetic counselors with an indication for prenatal testing (advanced maternal age or family history) would choose to use chorionic villus sampling or amniocentesis during pregnancy. What is more notable is that 76% of genetic counselors with no indication for prenatal diagnosis indicated that they would choose to use invasive prenatal testing. More recently, 52% of genetic counselors surveyed (compared with 5% of nurses and 7% of high school biology teachers) reported that they had chosen prenatal diagnosis in their pregnancies [Roggenbuck et al., 2000]. Again, 58% of the genetic counselors in this study who used prenatal diagnosis did so in the absence of having an increased risk. It is important to note that neither the reasons for differences in testing decisions, nor the intended behaviors that might arise from prenatal test results, were explored in these studies.

One might argue that these personal attitudes about disability are not reflected in genetic counseling practice. However, data suggest otherwise. An analysis of 93 transcripts of simulated prenatal genetic counseling visits from the Genetic Counseling Video Project [Roter et al., 2006] found that 95% of genetic counselors talked about the biomedical aspects of Down syndrome compared to 26% who described social aspects of life with Down syndrome [Farrelly et al., 2010]. When discussing options available to a client if a fetus were diagnosed with a disability, among the 93 genetic counselors whose transcripts were analyzed 86% mentioned pregnancy termination, 37% continuation of pregnancy and 13% adoption [Farrelly et al., 2010]. The majority (61%) of the prenatal counselors who participated in the Genetic Counseling Video Project had more than 5 years of experience in genetic counseling, which suggests these narrow descriptions and focus on abortion are not limited to inexperienced counselors. It may be tempting to dismiss these findings because they arose from sessions with simulated patients; however, 54% of participants agreed or strongly agreed that their counseling with the simulated clients was like their counseling in actual client sessions [Roter et al., 2006]. Further, data from studies with actual patients are consistent with these results. Hodgson et al. [2010] analyzed transcripts from 21 prenatal genetic counseling sessions (all patients were referred for abnormal maternal serum screening results) performed by five Masters-trained genetic counselors in Australia. Four of the five counselors had more than 3 years of experience in prenatal genetic counseling. Their analysis revealed a narrow description of Down syndrome that focused on negative aspects of the condition. When clients are asked to recount the descriptions they received of disability in their sessions, they corroborate these data collected via transcript analyses with real and simulated patients. Roberts et al. [2002] surveyed 69 women who were seen for a variety of indications by four genetic counselors at a single site. Eighty-seven percent of these respondents indicated that their genetic counselor did not give them information about future quality of life issues for a child with a disability and 83% indicated that they did not receive information on both positive and negative aspects of having a child with a disability. Wertz [1998] observed the same emphasis on the medical and functional impairments of disability in a survey of 310 clients from 12 genetics clinics across the United States and Canada that explored the topics discussed during their genetic counseling sessions. When prenatal genetic counselors themselves are asked about their descriptions of Down syndrome, their responses confirm the data from transcripts and reports of clients—the majority of 116 prenatal genetic counselors interviewed use a medical description of Down syndrome, few mention the capabilities of people with Down syndrome and even fewer mentioned the positive aspects of Down syndrome [Lardy et al., 2003].

Clients suggest that it is inadequate to share only biomedical information with families when sharing a prenatal diagnosis [Bellomo, 2009; Skotko et al., 2009]. It is important to distinguish this feedback from a criticism of the accuracy of the information shared in a genetic counseling session. The information genetic counselors provide is likely accurate, but does it include a balanced view of both positive and negative aspects of the conditions? Do genetic counselors equally emphasize the skills and abilities that may accompany a diagnosis as well as the limitations and differences? Do genetic counselors share information on the lives of individuals with a disability outside of a medical setting? Do they share information on the lives of individuals with a disability within their families and communities? Standards of what constitute “unbiased” or “balanced” information do not exist, but the available evidence suggests that genetic counselors are perceived as negatively biased.

Many clients have biases against individuals with disabilities that existed prior to their appointment with a genetic counselor and which have roots beyond genetic counseling. Investigators have demonstrated that biases against individuals with disabilities develop as early as childhood [Harper, 1999]. These preconceptions may be amplified during a woman's pregnancy due to expectations regarding “good” motherhood and the desire for a “perfect” baby [Landsman, 1998; Lalvani, 2008]. Genetic counselors' own values and beliefs regarding the topics that are frequently discussed during genetic counseling sessions may mirror the society in which they practice and thus contribute to a bias toward avoiding the birth of an affected child.

DISABILITY AND ADVOCACY COMMUNITIES' PERSPECTIVES

In contrast to the descriptions provided by medical professionals and others, individuals with disabilities tend to describe their quality of life as being related to personal and social variables, such as personal well-being, control over life choices, definition of self, and social position [Alderson, 2001; Chapman, 2002; Gollust et al., 2003; Petersen, 2006]. It is not surprising, then, that individuals with disabilities also differ in their responses to prenatal genetic testing for conditions that result in disabilities, as well as the genetic counseling that often accompanies this testing. Analyses of genetic counseling and testing through a disability lens have relied primarily on ethical and philosophical arguments [Parens and Asch, 2003; Freese and Shostak, 2009]. While ethical and philosophical analyses frame an understanding of the disability community's perspectives on clinical genetics and genetic counseling, empirical evidence may better guide further understanding. This evidence can be gathered from studies that use a variety of informants: disability rights advocates (many of whom have a disability), family members of individuals with disabilities, and persons with disabilities themselves. We review the limited data on the attitudes of the disability communities below.

Leaders of disease advocacy organizations and within the disability rights movement have been informants in two qualitative studies [McCarthy, 2003; Raz, 2004] that provide preliminary data on the understanding of and opinion towards prenatal genetic testing, clinical genetics and genetic counseling. When asked what the most pressing issue will be for the disability community in 2020, six of the eight participants in the McCarthy study [2003] expressed concern regarding the effects of biomedical technology on the value of their lives and the need to create a society that embraces disability rather than fears it. The 12 participants in the Raz study [2004] shared an abiding interest in offering prenatal genetic testing and selective abortion while simultaneously supporting individuals who are born with tested-for disorders.

Studies have investigated attitudes of family members of individuals with Down syndrome to better understand their perspectives on genetic counseling and prenatal diagnosis. Helm et al. [1998] found in their interviews of ten mothers who had received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy that some respondents reported that they did not feel supported by genetic counselors in their choice to continue the pregnancy. Rather, these mothers felt that the professional bias and personal assumptions of many health care providers undermined their ability to make their own decision with clarity. In addition to this small, qualitative study, Bellomo [2009] investigated the perceptions of prenatal genetic counseling and prenatal diagnosis among a national sample of 377 individuals in two Down syndrome support organizations. This sample included 190 individuals who had received prenatal genetic counseling, 46.6% of whom received the diagnosis of Down syndrome prenatally. Forty-nine percent of all respondents strongly agreed with the statement, “Prenatal diagnosis is used to decrease the population of individuals with disabilities.” Studies in which siblings of individuals with a disability are the informants reveal a range of attitudes. Bryant et al. [2005] surveyed 78 women who had sibling with Down syndrome for their views on prenatal diagnosis and termination. Respondents were more likely to support the availability of prenatal testing and termination for others than they were to consider using the services themselves, although approximately a third of respondents indicated that they would consider terminating a pregnancy with Down syndrome.

Very few studies have invited individuals with disabilities to share their attitudes and perspectives towards genetics, genetic counseling and prenatal genetic diagnosis. Ward et al. [2002] organized two workshops with seven individuals with a variety of learning difficulties to explore issues related to prenatal testing. Participants held a wide variety of opinions on prenatal testing and abortion. For example, participants expressed views that ranged from, “The f[o]etus should be aborted if a test shows it has learning difficulty because I don't think it should be born into a cruel world,” to “Disabled babies are OK.” When asked what information would be useful for parents who were considering terminating a disabled fetus, participants stated, “A video of what people with learning difficulties can do.” Chapman [2002] interviewed 24 adults with either cystic fibrosis or a family history of Huntington disease to better understand their views on medical technology and testing. In discussions about prenatal testing, participants emphasized the importance of a woman's right to choose termination, but that such a decision should be based on accurate understanding. Alderson [2001] reported on the results of interviews with five individuals with Down syndrome that covered a wide range of topics, including their views on prenatal screening. These individuals held a range of responses to prenatal screening, including the belief that “It [prenatal screening] makes more problems really” and one respondent who supported individuals' rights to information and choice.

Not all research on the disability community's perspectives towards genetic counseling has revealed primarily negative attitudes. In a small, exploratory study Chen and Schiffman [2000] interviewed 15 adults with physical disabilities who were familiar with genetic counseling, including ten who reported having received genetic counseling, most by a Master's-level genetic counselor. While expressing a range of opinions, only one individual thought the “field of genetics” was eugenic and four individuals did not favor or were ambivalent about prenatal diagnosis. The 10 individuals who received genetic counseling indicated that their genetic counselors “did not make any derogatory comments regarding the diagnosis, the decision to have children or the possibility of passing the disability to their children” and nine reported that the genetic counseling they received was nondirective.

We recognize that by more fully aligning with disability communities genetic counselors will not and should not reduce support of reproductive freedoms nor deny or avoid the offer of prenatal diagnosis to pregnant women. The importance of this is evident in the data reviewed here. Critics who have written extensively about the limitations and challenges of genetic testing and genetic counseling have simultaneously supported access to prenatal genetic testing [Asch and Fine, 1984; Shakespeare, 1999]. This perspective is shared by representatives from disease advocacy organizations and individuals with a personal knowledge of Down syndrome, cystic fibrosis, Huntington disease, Marfan syndrome and neurofibromatosis [Alderson, 2001; Chapman, 2002; Peters et al., 2002; Raz, 2004; Bryant et al., 2005; Cohen, 2009].

The research in this area is limited, draws from small samples and often employs hypothesis-generating methods. Nonetheless, the existing studies provide some evidence that individuals with disabilities perceive prenatal diagnosis as having a negative impact on their lives, that genetic counselors do not consistently provide the information that clients want and need when learning about a condition that may result in a disability and that genetic counselors are biased in their attitudes towards individuals with disabilities. While many may discount the perspectives of individuals who have never received genetic counseling, their opinions may be more important than those of individuals who have. These attitudes demonstrate the negative impression held by many of genetic counseling and prenatal diagnosis and may represent a broader social context that contribute to the tenuous relationship between the genetic counseling and disability communities.

THE ROLE OF THE NATIONAL SOCIETY OF GENETIC COUNSELORS

The mission of the NSGC is to advance “the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.” [NSGC, 2005]. Since its inception 32 years ago the NSGC has accomplished this mission through a variety of methods, including actively choosing to partner with a variety of for profit and not for profit organizations whose activities are congruent with the NSGC's mission. Over this time, the partnerships and alliances with disability organizations have been limited. Below we review NSGC activities, alliances and inactions that reveal ways the NSGC leaves itself open to a perception of bias by members of the disability community. There is no explicit data to assess whether this bias in NSGC sponsorship reflects a bias in values among genetic counselors that results in an unrealized commitment to serve as advocates for the disability community [NSGC, 2006].

In 2009, the NSGC participated in a meeting with other stakeholders (American College of Obstetrics and Gynecology, American College of Medical Genetics, National Down Syndrome Congress, National Down Syndrome Society) to consider shared values and beliefs regarding prenatal testing for Down syndrome and identify areas of consensus for collaboration [Edwards and Ferrante, 2009]. While the contribution of genetic counselors was valuable to this effort, it was neither initiated nor led by the NSGC. The NSGC currently collaborates with the Genetic Alliance to offer an Advocates Partnership Program in which up to 20 representatives of disease advocacy organizations are provided free registration at the NSGC Annual Education Conference (AEC) and receive exclusive daily briefings with genetics professionals. The NSGC further offers disease advocacy organizations reduced cost exhibitor booths at the AEC. While these efforts certainly contribute to improving the organization's relationship with the disability community, they are exceeded by the NSGC's more prominent and publicly touted alliances with centers for late pregnancy termination.

The financial support that the NSGC garners from abortion service providers leads to advertisements in a wide of variety of the NSGC's publications. A review of the five NSGC sponsors and nine AEC Sponsors listed in the NSGC 2010 AEC program reveals that two and one (respectively) are abortion service providers; none are disease advocacy/patient support organizations. Of the five full-page advertisements in the AEC program, one is for an abortion service provider; none are for disease advocacy/patient support organizations. Five of 60 exhibitors listed on page 26 of the 2010 AEC program are abortion service providers or supporters; nine are disease advocacy/patient support organizations. Full-page advertisements for abortion service providers were often included within the cover or the first few pages of the NSGC membership directories when print editions were published. Advertisements for abortion service providers were routinely found in the NSGC's newsletter, Perspectives in Genetic Counseling, until 2004, when electronic distribution of the newsletter was initiated. While there is increasing visibility of disability communities exhibiting at the NSGC AEC, this imbalance in sponsorship has existed for years.

The NSGC's imbalance in alignments is also apparent in its media relations. When Scott Roeder killed Dr. George Tiller, a physician who provided abortions after the 21st week in pregnancy and who provided financial support to the NSGC, the NSGC issued a press release condemning his murder [NSGC, 2009]. When Scott Roeder was convicted of Dr. Tiller's murder, the NSGC issued another press release commending the jury's decision [NSGC, 2010a]. These are indeed horrific and remarkable events of relevance and concern to genetic counselors and appropriate opportunities for the NSGC to stake a public stand. Yet, the NSGC has not issued public statements acknowledging a lifetime of activism for disability rights after the deaths of individuals whose work has affected the lives of many individuals with disabilities. Such individuals include Harriet McBryde Johnson, author, attorney and disability rights activist, and Paul Steven Miller, former Commissioner of the Equal Employment Opportunity Commission, attorney, professor, and an expert on the intersection of disability law, employment discrimination and genetic science. The National Down Syndrome Society and the National Down Syndrome Congress recently published an informational booklet on Down syndrome designed to be shared with individuals who receive a prenatal diagnosis of Down syndrome. Although the NSGC reviewed the booklet pre-production and it is available for purchase on the NSGC's website, the NSGC did not issue a press release about its publication. If genetic counselors' dedication to protecting clients' reproductive rights is as strong as the dedication to ensuring a high quality of life among clients with disabilities, the NSGC's public statements need to clearly demonstrate these equally important values.

The October 2009 issue of the NSGC's scholarly publication, the Journal of Genetic Counseling, included commentaries on Dr. Tiller's death [Caplan, 2009; Gettig, 2009]. Both commentaries ended with a strong call for genetic counselors to publicly defend their clients' right to safe, legal abortion, “If counselors do not speak up on behalf of their clients then who will?” [Caplan, 2009] The NSGC has a professional obligation to publicly support reproductive freedoms for clients, just as it should publicly support the needs of disabled clients. If counselors do not also speak up on behalf of clients who choose not to terminate a pregnancy, then who will? If counselors do not also speak up on behalf of clients with disabilities, then who will?

The NSGC's prominent sponsorships by late term abortion providers appear to support concerns of disability advocates that genetic counselors value abortion rights over the worth of the lives of those affected by disabling conditions. This leaves genetic counselors vulnerable as a profession to the criticism that they are not sufficiently aligned with the interests of the disability community and that the NSGC's stated commitment to the disability community is not fully realized. We are concerned that this disparity may increase as the NSGC shifts its strategic plan to include a “focus on revenue generation” [NSGC, 2010b] because advocacy organizations rarely have resources to provide significant income in support of the NSGC.

IMPLICATIONS AND SOLUTIONS

This critique has identified areas for improvement on several levels. Thus, meaningful responses must be broadly developed and widely implemented.

For Practicing Genetic Counselors

Individually, Saxton [1992] urges genetics professionals to “discover and articulate [their] own biases about disability.” Patterson and Satz [2002] called on genetic counselors to examine their “unique ethical responsibility to explore their attitudes and beliefs concerning disability, both conscious and unconscious, and to recognize the potential power of their stance toward disability in shaping societal views and public policy”. Brasington [2007] took such a step when she wrote about her own evolution as a genetic counselor in counseling about Down syndrome. She describes how her personal experiences with individuals and families with Down syndrome led her to discard the medical model of disability. It is encouraging that a session related to this paper's theme was presented at the 2007 NSGC AEC and was well attended [Weil and Hodgson, 2007].

Genetic counselors should pursue opportunities for conversation and collaboration with disability communities. Loik et al. [1998] made a start by bringing individuals from both groups together for a workshop at Brandeis University. The outcomes of this workshop included identifying a need for more public education about disabilities, exposure of healthcare providers to individuals with disabilities, and conversation among genetic counselors and those in the disability community to foster awareness. Ten years later, the University of South Carolina's Genetic Counseling Program and the University's Center for Disability Resources hosted a meeting of representatives of the National Down Syndrome Society, National Down Syndrome Congress, American College of Obstetricians and Gynecologists, American College of Medical Genetics and the NSGC to “promote greater understanding of each organization's perspective on prenatal screening and diagnosis as it relates to Down syndrome,” [Edwards and Ferrante, 2009]. Participants in Bellomo's study [2009] shared recommendations for genetic counseling practice, including the suggestion that genetic counselors develop “genuine relationships” with individuals with Down syndrome as well as their parents. Continued collaborations, both among organizations and individuals, are critical to strengthening the relationship between the genetic counseling and disability communities.

For Student Training

In a commentary on training health professionals, Shakespeare et al. [2009] suggest that, “perhaps the most dramatic learning [about disability] can come when it is a peer who is disabled, rather than a patient.” In addition to recruiting students with disabilities, training programs should recruit individuals with significant experience in the disability community, such as applicants who have worked with a genetic support group, have cared for a person(s) with a disability or who have a family member with a disability. In an effort to improve the quality of health care services, there has been a recent effort to include health service users and carers in the training and education of health professionals. Although the research literature indicates a limited demonstration of the effectiveness of these efforts [Repper and Breeze, 2007; Morgan and Jones, 2009], this is may be an area for further exploration in genetic counseling. Thus, genetics services consumers should be represented on training program advisory and executive committees. It may be appropriate to include disability studies as part of genetic counseling training programs' curricula. Surveys of current students and recent graduates indicate that some genetic counseling training programs already do this [Teicher et al., 1998; Brown et al., 2009]. We are unaware of a systematic investigation of disability curricula within genetic counseling training programs that uses program directors as informants; the Association of Genetic Counseling Program Directors does not maintain data on program curricula [Reiser, personal communication].

Wertz and Gregg [2000], in reporting on a collaborative effort by users and providers of genetic services to develop guidelines for optimal clinical practice, recommend that “education for professionals should always include experience with the lives of people with disabilities, outside a clinical setting.” It is encouraging that increasingly genetic counseling training programs offer such experiences [Brasington, 1996; Teicher et al., 1998; Brown et al., 2009]. The importance of these experiences is emphasized by Jonas et al.'s [2003] finding of a correlation between the contact genetic counselors have had in “noncaregiving” roles with people with disabilities and their attitudes towards people with disabilities. It is important to note that simply providing opportunities for interaction will not automatically result in more positive attitudes nor more accurate perceptions. To improve attitudes towards person with disabilities, interactions should, “(1) involve cooperation and reciprocity, (2) be rewarding to both disabled and nondisabled participants, (3) result in the participants getting to know one another as individuals, and (4) persist over time” [Yuker, 1988].

Regardless of the specific methods used to address these issues, graduate training programs should develop measurable outcomes by which to evaluate their efforts. These data can be used to identify the successful components of training and will permit dissemination to better inform the training of future genetic counselors.

For Professional Organizations

By implementing changes that address this issue, the NSGC has a unique opportunity to establish itself as a leader. Its actions may serve as a model of professional standards. We suggest that the NSGC accomplish this by taking a leadership role in facilitating meetings and conversations between the genetic counseling and disability communities and prominently reporting on these events on the NSGC website, through Perspectives in Genetic Counseling, and by issuing relevant press releases. Individuals with disabilities should be sought out and invited to participate in the AEC through program planning and other responsibilities that provide opportunities to make a significant impact on attendees. The NSGC should consider offering funding opportunities to students and practicing professionals that support research with a disability focus. The Journal of Genetic Counseling, which has solicited papers for special issues in the past, can devote an issue to research and commentary in the area of disability rights. The NSGC may want to consider ways to integrate a greater focus on disability rights when evaluating and updating its strategic plan. Most importantly, if these efforts are to be successful they need to be well planned, consistently implemented and include realistic goals and evaluation components.

As the organization that accredits genetic counseling training programs and develops the profession's board certification examination, the American Board of Genetic Counseling (ABGC) also may play a role in better addressing these issues. We suggest that the ABGC competencies should be revised to include specific attention to issues pertinent to the disability community. Such a revision would be commensurate with the ABGC's decision to grant continuing education units to board-certified genetic counselors for volunteering at a chronic disease specialty camp or at other structured events or activities that involve direct interaction with participants in the event. Training program accreditation criteria might also be revised to include specific requirements for student study of disability rights and participation in the disability community outside of a clinical setting. Accreditation site visit committees could be expanded to include consumers of genetic services, not only colleagues and other genetics providers.

For Enhanced Research

As this commentary documents, research on the knowledge, beliefs and attitudes of the disability community towards genetic counseling and studies directly measuring the beliefs and attitudes of genetic counselors towards individuals with a disability is limited. Published studies are almost exclusively exploratory, employing primarily qualitative methodologies: they rely on small samples, infrequently draw on populations that have received genetic counseling from Master's-trained individuals and rarely use individuals with a disability as informants. Although preliminary, the findings from this research are supported by public demonstration of unbalanced alliances by the NSGC and published mainstream media articles. However, to more fully address the concerns of each community and to foster stronger allegiances, a greater research base and additional scholarship are necessary. The retrospective, qualitative studies described here cannot fully capture the information and support needs of parents at the time they receive a prenatal diagnosis and are making decisions about whether to continue a pregnancy with a diagnosis that may include a disability. Large, prospective studies are necessary to better understand the needs of individuals when they receive a diagnosis. Similarly, longitudinal studies of adaptation to living with a disability, and that consider the family as a unit of analysis, are critical. If genetic counselors wish to honestly defend their practice from accusations of bias, they must encourage further study of the process that happens within and beyond counseling sessions. Although such research can be challenging to accomplish, it would provide the basis for understanding what counselors and clients actually say in genetic counseling sessions and provide an opportunity to assess the values and beliefs the words convey.

CONCLUSION

There is a long-standing perception of genetic counselor bias among many in the disability community. This perception may be difficult for many to accept, because it challenges a goal of genetic counseling—to advocate for the needs of clients affected with disabilities. In her address at the 2010 NSGC AEC, NSGC President Karin Dent suggested that the profession has matured to the point where it can heed Dr. Charles Epstein's advice, to “listen carefully and nondefensively to what [critics] have to say” [Epstein, 2003]. Ms. Dent stated that she welcomes, “diverse opinions and difficult conversations and recognize[s] that constructing solutions together will create additional opportunities for growth and education” [Presidential Address, 2011]. This is an opportunity to begin a difficult conversation and to construct solutions together that will chart a new course for the relationship of genetic counseling and disability communities. We have suggested multiple ways that genetic counselors, on individual and organizational levels, can examine and strengthen the relationship between the genetic counseling and disability communities. These strategies should not and do not minimize the profession's support of reproductive freedom and access to prenatal genetic testing opportunities. The rewards reaped from a better relationship between the communities are many. Genetic counselors may more effectively support individuals with disabilities and their families and provide for richer, more meaningful counseling of people who seek prenatal and pediatric/adult genetics services.

Acknowledgements

The authors thank Sharon Terry, MA, and Beverly Yashar, Ph.D., M.S., for thoughtful comments on an earlier draft of this manuscript.

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  Not all genetic conditions are disabling and not all disabilities have a genetic etiology. For the sake of clarity, we use the term disability throughout this commentary.