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.     

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.     

Where are the Males? Gender Differences in Undergraduates’ Interest in and Perceptions of the Genetic Counseling Profession

Genetic counseling is a female-dominated field, with women comprising about 95% of the profession (Smith et al. 2009). Greater patient choice and satisfaction may be achieved by increasing the number of male counselors, but empirical evidence about the reasons for this gender imbalance is limited. In this study 190 undergraduates (110 females, 79 males, 1 unknown) in upper division bioscience courses completed a survey assessing their knowledge and perceptions of and interest in genetic counseling as a career. There were only two significant gender differences. Females indicated significantly greater interest than males in pursuing a genetic counseling career, and they rated interpersonal skills as more integral to genetic counseling than males. Multiple regression analyses of knowledge and perceptions as possible predictors of male and female interest in pursuing a genetic counseling career yielded no significant predictors of male interest. For females, there were four significant predictors: estimated salary, career characteristics, perceptions of genetic counseling as interpersonally focused, and whether they had already chosen a career. Implications for recruiting males to the profession, and research recommendations are presented.     

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.     

“Testing Times,Challenging Choices”: An Australian Study of Prenatal Genetic Counseling

In many countries pregnant women deemed to be at increased risk for fetal anomaly following a screening test may attend a genetic counseling session to receive information and support in decision-making about subsequent diagnostic testing. This paper presents findings from an Australian study that explored 21 prenatal genetic counseling sessions conducted by five different genetic counselors. All were attended by pregnant women who had received an increased risk result from a maternal serum screening (MSS) test and who were offered a diagnostic test. Qualitative methods were used to analyze the content and structure of sessions and explore the counseling interactions. Findings from this cohort demonstrate that, within these prenatal genetic counseling sessions, counselor dialogue predominated. Overall the sessions were characterized by: a) an emphasis on information-giving b) a lack of dialogue about relevant sensitive topics such as disability and abortion. Arguably, this resulted in missed opportunities for client deliberation and informed decision-making. These findings have implications for the training and practice of genetic counselors and all healthcare professionals who communicate with women about prenatal testing.     

Are Genetic Counselors and GLBT Patients “on the Same Page”? an Investigation of Attitudes, Practices, and Genetic Counseling Experiences

Gay, lesbian, bisexual, and transgender (GLBT) individuals comprise a growing patient population in genetic counseling, yet literature on working with this population is scarce. This study sought to investigate GLBT patient experiences in genetic counseling and genetic counselor attitudes and practices when counseling GLBT patients. Twenty-nine GLB individuals who had previously participated in genetic counseling, and 213 genetic counselors completed online surveys. No individuals identifying as transgender participated. The patient survey assessed disclosure of orientation, discrimination in genetic counseling, and quality of services received. The counselor survey assessed comfort with and attitudes about counseling GLBT patients, disclosure of counselor orientation, and whether they counsel differently with this population. Every patient denied experiencing discrimination during their session, but 17% reported their genetic counselor assumed they were heterosexual, and 45% indicated intake forms were not GLBT-inclusive. A majority of counselors (91%) reported having counseled GLBT patients and indicated they were comfortable doing so (86%), and 72% indicated no differences in their counseling approaches with GLBT patients. Few counselors (17%) received training in GLBT issues, and most (61%) desired such education. Additional findings and practice and research recommendations are presented.     

What Is It Like To Be in the Minority? Ethnic and Gender Diversity in the Genetic Counseling Profession

Increasingly, the genetic counseling profession is recognizing the need for greater ethnic and gender diversity. Recruitment and retention efforts may be enhanced by better understanding of the experience of individuals considered to be underrepresented in the profession. In this qualitative study, 8 genetic counseling students and 7 practicing genetic counselors who were ethnic minority and/or male participated in semi-structured telephone interviews regarding how they were introduced to the field, perceived career supports and barriers, their experiences within training programs and the field, and suggestions for increasing diversity. Introduction to the field tended to be late and accidental. There were several career supports (e.g., field combines science and helping others) and barriers (e.g., lack of information about the field). Participant experiences, although primarily positive, included instances of passive, unintentional discrimination; and there were internal and external pressures to be diversity experts and positive representatives of their group. Participants reported positively impacting colleagues’ cultural competency and offering a different presence within clinical settings. Suggestions for increasing diversity and research recommendations are given.     

Commentary on “Life as a Pregnant Genetic Counselor”

The genetic counseling role is complex. There are frequently challenges raised for the genetic counselor both personally with the client and through factors external to the genetic counselor such as the clinical setting. The pregnant genetic counselor working in a prenantal diagnosis center may be confronted by her own countertransference towards the client or by the client’s tranference. The processes of transference and countrtransference need to be clearly understood, identified and dealt with in a sensitive self aware manner to facilitate the role of communicating empathically and giving genetic information to facilitate informed client decision making. Regular professional supervision and debriefing for the genetic counselor are essential to develop professional boundaries and to develop self awareness.     

Commentary on Allan Kellehear's “Near-death experiences and the pursuit of the ideal society”

Allan Kellehear's article raised four questions for me: (1) whether the near-death experience (NDE) presents enough data about the nature of a transcendent society for it to be a useful model for earthly societies; (2) the degree to which transcendent societies have to address the practical considerations of a material society; (3) whether NDEs are projections of experiencers' cultural concepts about the nature of the transcendent realm(s); and (4) the kind of hope offered by the growing awareness of the features of Western NDEs. I address these questions by referring to transcendent realm concepts and NDEs in the anthropological literature, particularly that of the North American Indian Prophet Movement.     

Genomic Testing: a Genetic Counselor’s Personal Reflection on Three Years of Consenting and Testing

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor’s experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.     

Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening. It is also unknown if pre-test counseling on this topic would affect screening uptake. In order to answer these questions, a survey was administered to individuals who screened negative for GBA mutations. Of the 75 participants, 86.7% believed that patients should be informed about the increased risk of PD prior to having GD carrier screening, and 93.3% responded that this information would not have changed their decision to have carrier screening. These results indicate that healthcare providers should take into consideration patient preferences when determining how to counsel about GD carrier screening. Additionally, these results have implications for genetic counseling about other later-onset conditions that may be incidentally ascertained through carrier screening.     

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.