International genetic counseling: What do genetic counselors actually do?

We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genetic counselors in different countries and regions. We obtained 189 useable responses representing 22 countries, which are included in an aggregate manner. Data from countries with 10 or more responses, comprising 82% of the total (N = 156), are the primary focus of this report: Australia (13), Canada (26), USA (59), UK (17), France (12), Japan (19) and India (10). Twenty activities were identified as common (≥74%) across these countries, encompassing most subcategories of genetic counseling activity. Activities with most frequent endorsement include: reviewing referrals and medical records and identifying genetic testing options as part of case preparation; taking family and medical histories; performing and sharing risk assessment; and educating clients about basic genetic information, test options, outcomes and implications, including management recommendations on the basis of the test results. Genetic counselors also consistently establish rapport, tailor the educational process, facilitate informed decision making and recognize factors that may impact the counseling interaction. The least endorsed activities were in the Medical History category. Notable differences between countries were observed in the endorsement of 33 activities, primarily in the Contracting and Establishing Rapport, Family History, Medical History, Assessing Patients Psychosocially and Providing Psychosocial Support categories. Generalizations about international practice patterns are limited by the low response rate. However, this study is, to our knowledge, the first to systematically compare the clinical practice and specific activities of genetic counselors working in different countries.

Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives.

Infertility genetic counselors (GCs) work with patients struggling to become pregnant who desire genetic testing of embryos and preconception genetic testing or carrier screening. Because personal and professional challenges have not been examined in this relatively new genetic counseling specialty, we investigated the difficulties infertility GCs face in their professional roles. Past and present infertility GCs in patient-facing roles were recruited through the National Society of Genetic Counselors. Purposive sampling ensured participants were diverse in clinical setting, reproductive history, and other demographics. Nineteen participants completed a semi-structured interview, at which time data saturation occurred. Thematic analysis revealed infertility GCs consider their patients more emotionally stressed than patients in other specialties. Infertility GCs relate easily to patients, build long-term patient relationships, and feel invested in the reproductive successes of patients. Participants reported heightened concern for their own fertility, leading to high personal uptake of preconception genetic and fertility tests. Participants described discomfort when counseling while visibly pregnant and reluctance to disclose their own reproductive histories. Further research is needed on the complex interactions of GCs' personal and professional lives. Peer support groups and professional dialogue about the personal effects of the role may be beneficial for infertility GCs.

Genetic Counselor and Healthcare Interpreter Perspectives on the Role of Interpreters in Cancer Genetic Counseling.

Cancer genetic counseling (CGC) combines psychosocial counseling and genetic education provided by genetic counselors to patients and families who have a history of cancer and are considering or have undergone genetic testing for hereditary cancer syndromes. The quantity and complexity of information provided can be challenging for any patient, but is even more so for those with limited English proficiency (LEP). This exploratory study investigated healthcare interpreters' and genetic counselors' perspectives on the role of interpreters in providing care to LEP patients during CGC. Through a survey of 18 interpreters and conventional content analysis of semi-structured interviews with 11 interpreters and 10 GCs at two California public hospitals, we found that: 1) interpreters viewed their role as patient advocate, cultural broker, and emotional support, not simply a conduit; 2) interpreters were challenged by remote interpretation, lack of genetic knowledge, and the emotional content of encounters; 3) interpreters and GCs held conflicting views of the value of counselors' limited Spanish knowledge; and 4) trust, the foundation of the interpreter-provider dyad, was often lacking. The challenges identified here may result in poor healthcare experiences and outcomes for LEP patients. As genomics becomes more widespread and more LEP patients encounter CGC, the role of healthcare interpreters in facilitating effective communication must be further defined in order to facilitate better working relationships between interpreters and genetic counselors, and optimal communication experiences for patients.

Cancer Counseling of Low-Income Limited English Proficient Latina Women Using Medical Interpreters: Implications for Shared Decision-Making.

In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals. Patients were referred for risk of hereditary breast and ovarian cancer; all were offered genetic testing. Audio files were coded by two bilingual English-Spanish researchers and analyzed using conventional content analysis through an iterative process. The 24 sessions included 13 patients, 6 counselors, and 18 interpreters. Qualitative data analyses identified three key domains - Challenges Posed by Hypothetical Explanations, Misinterpretation by the Medical Interpreter, and Communication Facilitators - that reflect communication patterns and their impact on the counselor's ability to facilitate shared decision-making. Overall, we found an absence of patient participation in the decision-making process. Our data suggest that when counseling LEP Latina patients via medical interpreter, prioritizing information with direct utility for the patient and organizing information into short- and long-term goals may reduce information overload and improve comprehension for patient and interpreter. Further research is needed to test the proposed counseling strategies with this population and to assess how applicable our findings are to other populations.

International genetic counseling students' perspective on their training experience in the United States.

International students face social, psychological and academic challenges upon moving to a foreign country to pursue higher education. Clinical disciplines such as genetic counseling present additional challenges adapting to an unfamiliar health care system and different interactions and expectations with patients and colleagues. This study used semi-structured interviews to identify challenges that international genetic counseling students face during training in the United States. Eight international genetic counseling alumni who graduated from U.S.-accredited programs were interviewed. Participants stated that the U.S. academic system was unfamiliar-class participation and paper-writing required the greatest adjustment. There was a need for help in understanding social norms in academic settings. Clinically, they were unfamiliar with the dynamics and communication style of U.S. families. Non-native English speakers experienced greater difficulty in all areas. Most participants reported that they were uncomfortable asking for help in transitioning to life, study and work. Participants identified mentorship programs for international students as potentially useful in clarifying expectations in academic and clinical settings. These results may assist international students preparing to study genetic counseling in the U.S. and may help genetic counseling training programs identify the academic and clinical challenges faced by international students.

Talking about disability in prenatal genetic counseling: a report of two interactive workshops.

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for--many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors' perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants' knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.

Commentary: how individual and profession-level factors influence discussion of disability in prenatal genetic counseling.

Hodgson and Weil (Journal of Genetic Counseling, 2011) reports on two interactive workshops in which genetic counselors identified a broad set of counseling issues that may be impediments to promoting an adequate discussion of disability in prenatal genetic counseling. The present commentary discusses two factors that we infer underlie these counseling issues. First, countertransference concerning disability, which is normal and expected, may influence genetic counselors' decisions about raising and exploring the complex topic of disability in prenatal genetic counseling. Second, the limited involvement of the profession of genetic counseling in the complex social and ethical issues of disability provide little guidance to the individual genetic counselor with respect to discussing disability in prenatal diagnosis counseling. We suggest both factors must be acknowledged and addressed in order to adequately implement the recommendations presented in Hodgson and Weil (Journal of Genetic Counseling, 2011) as well as other efforts to increase discussion of disability in prenatal diagnosis counseling in the service of informed decision making.

Concurrent use of cultural health practices and Western medicine during pregnancy: exploring the Mexican experience in the United States.

The relationship between concurrent use of cultural health practices and Western medicine during pregnancy by women of Mexican origin is relatively unstudied. The aim of this study was to explore how cultural health practices are balanced with the use of Western medicine during pregnancy by women of Mexican origin across differing acculturation levels. A convenience sample of 15 women of self-identified Mexican origin between the ages of 18-65 participated either in a telephone interview or one of two small group interviews; each was conducted in participants' preferred language. Transcripts were analyzed using thematic coding, and acculturation level was assessed using a validated measure. The results indicate that (1) Women of all acculturation levels valued Western medical care in pregnancy and had a good understanding of common public health messages; (2) Perceived benefits of and reasons for engaging in cultural health practices varied by acculturation level; and (3) Motivation for sharing cultural health practices with children also varied by acculturation level. Consequently, acculturation level is an important factor to consider in culturally competent genetic counseling, including eliciting cultural information relevant to counseling and decision-making and identifying barriers to effective, culturally sensitive communication.

The relationship of nondirectiveness to genetic counseling: report of a workshop at the 2003 NSGC Annual Education Conference.

Nondirectiveness has been a guiding principle for genetic counseling since the founding of the profession. However, its efficacy and appropriateness in this role have been frequently questioned. A workshop at the 2003 Annual Education Conference of the National Society of Genetic Counselors provided audience participation in a discussion of these issues. Participants presented arguments for and against nondirectiveness as a central ethos. They described complex personal transitions in adapting what they had learned about nondirectiveness during training to the realities of the workplace. There was support for flexible approaches to genetic counseling, with varying adherence to nondirectiveness, based on client and family needs and values, clinical circumstances, and desired counseling outcomes. The discussion supports the use of clinical experience, outcomes research, and the experience of other professions to move beyond nondirectiveness and more accurately identify the theoretical bases that underlie genetic counseling in the variety of circumstances in which it is currently practiced.

Peer review: an essential step in the publishing process.

Among the many steps involved in publishing a professional paper, peer review of the submitted manuscript presents both a challenge and an opportunity. Peer review is essential to ensuring that published papers meet appropriate research, scholarship and journal criteria. Peer review is also a valuable resource, providing detailed, professional evaluations that help authors carry out and present scholarship of the highest quality. When combined with the commitment of the Journal of Genetic Counseling to encourage and mentor authors, it is also a resource for developing writing skills.

Psychosocial genetic counseling in the post-nondirective era: a point of view.

For three decades nondirectiveness has served as the central ethos for genetic counseling. It has evolved from narrow definitions defining what should not be done to broad definitions that promote active counseling skills in support of client autonomy and informed decision making. As broad definitions have been formulated, the term "nondirective" has become largely irrelevant to their content; it persists primarily as a historic relic. It has thus become an impediment to creative theory and clinical practice. I propose that nondirectiveness be replaced as the central ethos, while relevant components (providing balanced information, not imposing the counselor's values) are retained as elements of practice and ethics. This raises the question of what principle(s) should be adopted as a new guiding ethos. To promote a discussion of that issue I propose that the central ethos of genetic counseling should be to bring the psychosocial component into every aspect of the work.

Howard: paternity and Pandora's box.

Howard, a young man named in a paternity suit, came to the Chief of the Genetics Clinic at a large teaching hospital to declare the charges against him false and ask for help in mounting evidence for his defense. Howard submitted to HLA testing, as did the mother and child; but in Howard's zeal to prove his innocence, he insisted that his siblings and parents also be tested to show conclusively there was no paternal link between himself and the child in question. The results of the tests solved one problem while creating another. Although the tests showed that Howard was not the father of the child as charged, the tests also indicated that the man Howard believed to be his own father could not, in fact, be his biological parent. The geneticist brought the case to the new ethics committee at a large teaching hospital to ask, "What, if anything, should be done with this information? Does a physician have the right to withhold information that, although acquired accidentally, would have great import for the patient?" In presenting his dilemma regarding Howard's situation, the geneticist also described a related and common problem of who owns the information. For example, a person comes in for genetic counseling about a particular family disorder. In the course of establishing a pedigree, it comes to light that there are relatives who are at high risk of developing a life-threatening disease that is preventable. What is the doctor's obligation to such a person who is not a patient and about whom crucial information has been learned through privileged communication?