Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session

Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or who work in prenatal or pediatric settings had more positive attitudes toward deaf people than those without deaf/Deaf friends or those working in ‘other’ settings. More positive attitudes toward deaf people correlated with higher comfort level talking about genetic testing for the two scenarios involving culturally Deaf clients; and correlated with higher comfort level offering genetic testing to culturally Deaf clients wishing to have a deaf child. Attitudes and comfort level were not correlated in the scenarios involving hearing or non-culturally deaf clients. These results suggest that genetic counselors’ attitudes could affect information provision and the decision making process of culturally Deaf clients. Cultural sensitivity workshops in genetic counseling training programs that incorporate personal interactions with culturally Deaf individuals are recommended. Additional suggestions for fostering personal interactions are provided.     

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor’s Perspective

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors’ perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8 %) of the 88 tasks studied. The tasks identified as most different in TGC were: “establishing rapport through verbal and nonverbal interactions” (60.2 %; 50/83 respondents identified the task as different), “recognizing factors affecting the counseling interaction” (47.8 %; 32/67), “assessing client/family emotions, support, etc.” (40.1 %; 27/66) and “educating clients about basic genetic concepts” (35.6 %; 26/73). A slight majority (53.8 %; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.     

Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders,How are Genetic Counselors Joining the Discussion?

Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI’s growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI’s genomic communication needs.     

Are Genetic Self-Tests Dangerous? Assessing the Commercialization of Genetic Testing in Terms of Personal Autonomy

Should a growing market for genetic self-tests be welcomed or feared? From the point of view of personal autonomy the increasing availability of predictive health information seems promising. Yet it is frequently pointed out that genetic information about future health may cause anxiety, distress and even loss of “life-hopes.” In this article the argument that genetic self-tests undermine personal autonomy is assessed and criticized. I contend that opportunities for autonomous choice are not reduced by genetic information but by misperceptions and misunderstandings of the results of genetic tests. Since the interpretation of genetic information is sometimes distorted by the information provided about the genetic products, more attention should be given to deceitful marketing that overblows the utility of genetic products. Yet personal autonomy is reduced neither by genetic tests nor by genetic information and there is consequently no compelling case for the conclusion that genetic self-tests should be prohibited.     

Genetic Counselors’ Religiosity & Spirituality: Are Genetic Counselors Different from the General Population?

Although there is evidence that the religious beliefs of genetic counselors (GCs) can induce internal conflict in at least some genetic counseling scenarios, empirical research on the religiosity of GCs is limited. This study compares genetic counselors to a representative sample of the adult U.S. population on multiple religiosity measures. After controlling for several sociodemographic factors the percentage of GCs who report having a religious affiliation is similar to the general U.S., but GCs are less likely to affiliate with conservative Christian religions and are more likely to be Jewish. GCs are significantly less likely than the general U.S. population to: believe in god, attend religious services, pray, and believe in an afterlife even after controlling for relevant sociodemographic factors. Despite the lower levels of religiosity, a majority of GCs do report themselves to be moderately to highly spiritual. We explore potential reasons for religiosity differences as well as possible implications in the context of the GC scope of practice.     

The Road Less Traveled: One Genetic Counselor’s Reflections on Disability and the Genetic Counseling Profession

Reflections on disability and the genetic counseling profession from the perspective of a seasoned genetic counselor who is also the mom of a child with a disability.     

Is Self-Disclosure Part of the Genetic Counselor's Clinical Role?

The role of genetic counselor self-disclosure in clinical practice is unclear as there are few published investigations of this issue. In the present study, 11 genetic counselors who previously received genetic services were interviewed about their opinions and use of disclosure. Several themes were extracted from their responses. All participants reportedly disclosed to patients; however, not all disclosed their receipt of genetic services. Patient requests for self-disclosure influenced many participants’ disclosure decisions. Opinions regarding potential benefits of disclosure varied. Nearly all participants stressed the importance of self-disclosing judiciously, stating that it may be counterproductive to client goal attainment. Four individuals with expertise in genetic counseling and psychotherapy were invited to react to these themes and to provide their opinions of self-disclosure. Their views are compared to those of the present sample, and practice and research recommendations are given.     

Genetic Indigenisation in ‘The People of the British Isles’

In 2007, Channel 4 screened Face of Britain, a documentary about the genetic mapping of Britain. Face of Britain promised to reveal ‘who we really are’ by tracing genetic links back to ancient Celts, Anglo-Saxons, Vikings and Normans. This article situates Face of Britain within the wider racial and national politics that it is invariably caught up in, and examines how ‘race’ and racial thinking are reconfigured in ways that are both ‘old’ and ‘new’. Face of Britain constitutes an interesting case study to examine how ideas of indigeneity are produced and naturalised in scientific discourses and practices. Here, indigeneity is mobilised through three sub-narratives: the ‘vanishing indigene’; the promise of facial recognition; and DNA and national relatedness. The analysis reveals how some people of the British Isles are naturalised as indigenous by virtue of their ancestral presence in this land through a combination of genetic and photographic technologies. In short, blood and soil are intertwined, with genes as mediators between ancestors and contemporary inhabitants of Britain. Furthermore, the invisible genetic connection is made visible through the creation of ‘average faces of Britain’, which is considered here as a contemporary version of physiognomy. In conclusion, Face of Britain testifies to the reconfiguration of ‘racial thinking’ in contemporary science, through what ultimately amounts to the genetic indigenisation of white Britons. Consequently, this study lends itself to racialised politics of land claims that resonate with, but are different from, indigenous politics in other contexts, namely with regards to the relationship to whiteness.     

Genetic Counseling—Stress, Coping, and the Empowerment Perspective

Historically one of the basic foundations of the genetic counseling process has been nondirectiveness; however, its definition and utility continues to be in question. There remains a need to develop genetic counseling interventions in order to qualify, quantify, measure, and enhance the genetic counseling process as well as to delineate the complex interactions of education and counseling that occur. We propose a framework for genetic counseling interventions utilizing an empowerment perspective and Lazarus and Folkman's adaptation of the theory of stress and coping. This model frames the genetic counseling process as one that promotes the autonomy of the individual by providing the individual with the tools required to make their own decisions and enhances coping and adjustment to the outcome of those decisions through control and mastery.     

Does Receiving Genetic Counseling Impact Genetic Counselor Practice?

This study was an investigation of whether genetic counselors have received genetic counseling and if so, how they believe it affects their practice. One thousand genetic counselors were mailed surveys about the nature of genetic counseling services received, impact on their clinical practice, frequency and reasons for disclosing about their receipt of counseling to their clients, and demographics. Ninety-three of the 510 respondents reported receiving genetic counseling. Of these, almost three-fourths were practicing genetic counselors while receiving services. Reasons for services include prenatal concerns, family history of cancer, and history/risk of other genetic conditions. Frequently endorsed effects on practice include increased empathy and understanding of client decisions, feeling more connected with clients, greater emphasis on psychosocial support, and sympathy. Forty-six respondents disclosed to clients about their receipt of genetic counseling. Prevalent reasons include client asked, help clients feel they are not alone, demonstrate counselor understanding, decrease client anxiety, build rapport, and normalize client feelings. Practice and research recommendations are given.     

Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications.     

Ethical and Professional Challenges of Genetic Counseling – the Case of Austria

Genetic counseling is gaining in importance with the increasing application of genetic testing for diagnosis and clinical treatment. Genetic counseling often raises ethical and professional challenges and prior research has categorized them into 16 domains. The purpose of this study was to analyze the situation in Austria on the basis of these challenges and discuss it in the national and international context. While in some countries there is a special profession for genetic counseling, in Austria it is provided by medical geneticists or other physicians in the context of their specialization. Psychosocial professionals might be consulted or brought in if necessary. Results from 95 survey respondents (including physicians and psychosocial professionals) revealed a greater interest in the topic of genetic counseling by medical specialists other than medical geneticists. The most frequently encountered challenges among physicians were informed consent, organizational constraints, withholding information, and attaining/maintaining proficiency. The psychosocial professionals experienced maintaining proficiency and organizational constraints as the prevalent challenges. Additional findings and practice implications are presented.     

“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers

Patients and health care consumers can obtain access to their “raw,” or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivations of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and privacy and security measures. We additionally conducted qualitative interviews with a subset of 10 tool developers. A majority of tools (16 of 23, or 70%) offer some type of health or wellness-related information, often extracted from publicly available variant annotation databases. Half of those interviewed characterized their activities as “bridging” users to the scientific literature rather than interpretation, for which they gave a variety of scientific, ethical, and regulatory justifications. The scale, heterogeneity, and complexity of information available from third-party interpretation are unprecedented. While developers aim to enlighten and empower tool users, interpretation-free “bridging” to rapidly evolving databases may instead impose burdens on genetic counselors and other health care providers asked to provide further contextualization and explanation.     

Genetic Counselors’ Experiences with Adolescent Patients in Prenatal Genetic Counseling

Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors (N = 128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13–19) and adult (ages 20–34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults. They also noted differences between adult and adolescent populations with respect to the people who typically accompany the patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence a prenatal genetic counseling session.     

Who Are the Next Generation of Genetic Counselors? A Survey of Students

Genetic counseling students were surveyed about their backgrounds, application process to genetic counseling programs, and career motivations and plans. Program directors from 27 accredited programs were asked to distribute 362 surveys to students. Fifty-two survey items assess demographics; sources of support for pursuing a genetic counseling career (information about genetic counseling, encouragement/discouragement from others); career motivations (reasons for applying and for becoming a genetic counselor); and career certainty. Two hundred and thirty-five usable surveys were returned (64.9% usable return rate). Most respondents were Caucasian females (mean age = 25.4 years). About 13% identified as ethnic minorities, and about one-third reported family histories of a genetic condition(s). Most respondents learned about the field in classes, and most were strongly encouraged by family and friends to pursue genetic counseling. Reasons rated as most important for becoming a genetic counselor included helping others and intellectual stimulation. Recruitment, training, and research recommendations are given.     

Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors— one third of whom currently offer WES/WGS—participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of WES/WGS into the clinical setting (molecular/clinical genetics, counseling and bioethics) and suggested that counseling aids (to assist them when explaining aspects of these tests to patients) and webinars focused on WES/WGS (for genetic counselors and other health care professionals) would be useful educational tools. Future research should permit us to further enhance our knowledge of pitfalls and benefits associated with the introduction of these powerful technologies in patient care and to further explore the roles and opportunities for genetic counselors in this rapidly evolving field.     

Genetic Counselors’ Perception of the Effect on Practice of Laws Restricting Abortion

In 2013, twenty-two states enacted seventy provisions restricting access to abortion. The legislation restricted access to abortions by instituting more regulations on providers and facilities, by prohibiting abortion prior to viability, by restricting funding available to patients and by requiring patients to wait a mandatory time period before having a procedure. Genetic counselors are trained to provide unbiased, comprehensive information in a non-directive style in order to allow patients to exercise their reproductive freedom. We developed a survey of 37 questions for genetic counselors to gauge the potential impact these provisions will have on their ability to be a patient advocate. A total of 286 individuals completed the survey; however, not all respondents answered all questions. Qualitative questions complemented quantitative survey entries, allowing respondents to input thoughts and examples. Results indicate genetic counselors in all regions share similar professional opinions about the provisions. More genetic counselors in the South and Midwest noticed changes impacting patients since the provisions have been enacted. These regional differences correlate with the location of states that have seem the greatest increase in antiabortion provisions.