Applying the practice-based competencies to evaluate and characterize the contracting process within genetic counseling sessions.

Contracting is a skill used by genetic counselors (GCs) to establish a shared vision for the session. Ensuring that patients and GCs are aligned on expectations for the encounter allows GCs to meet patient needs and support patient autonomy. Although contracting is described in the practice-based competencies (PBCs), the process has not been systematically observed in practice. We sought to further elucidate the skills used for contracting within genetic counseling sessions through directed content analysis of transcripts from 148 simulated prenatal and cancer genetic counseling sessions. An a priori codebook and rating scale were developed based on four contracting sample skills described in the PBCs: (a) describing the genetic counseling process, (b) eliciting client concerns, (c) applying client concerns to a session agenda, (d) modifying the agenda in response to emerging concerns. The rating scale described the quality of each skill on a 4-point scale of "absent," "minimal," "adequate," and "excellent." The codebook and rating scale were pilot tested with 40% of transcripts (n = 60). Three authors independently coded and rated the final 60% of transcripts (n = 88), resolving discrepancies via a consensus process. We found that the four PBC skills were present in most sessions (88%-98%), and on average, GCs received "adequate" scores on all four skills. We also identified three additional components of contracting not described in the PBCs: assessing whether client concerns were met, inviting to interrupt, and providing opportunity for partner concerns. This study represents the first attempt to evaluate GC performance of a PBC during a genetic counseling session. Our findings demonstrate that the PBC sample contracting skills reflect practice and suggest that they can be used in assessment of the genetic counseling contracting process. This type of analysis could be adapted in the future to provide support for other standards of practice in the genetic counseling field.

Commonalities and contrasts: North American program directors' perspectives on genetic counseling education.

There is currently a gap in the literature regarding education by and for genetic counseling (GC) students and genetic counselors. Since little is written about current strategies used in GC graduate programs, we conducted a qualitative semi-structured interview study of North American GC program directors to learn about their educational goals and practices. We recruited 25 program directors from the United States and Canada through the Association of Genetic Counseling Program Directors for interviews using a video conferencing platform. Interviews were recorded and transcribed, followed by content analysis to analyze education frameworks; processes of program planning and development; approaches and strategies for teaching and assessing GC core knowledge and skills; and systemic factors that influence GC education. We emphasized areas that are challenging to teach, particularly ethical, legal, and social issues (ELSI); disability issues; genomics; counseling skills; diversity, equity, inclusion, justice (DEIJ) issues; professional identity; research skills; and teaching skills. We found commonalities supported by standards and practice-based competencies and also a rich diversity of program cultures, approaches, and techniques for teaching and assessing genetic counseling skills. There was a consistent theme of integration across the program for all areas examined. A multilayered, comprehensive approach to DEIJ issues was advocated. Planned change was a logical outcome of program assessment, while unplanned change called for flexibility and creativity. The description of GC educational practices provides documentation of current approaches and strategies, guidance for new GC programs, and inspiration for continued evolution of existing GC graduate programs.

Defining orienting language in the genetic counseling process.

We defined orienting language in genetic counseling sessions as 'language intended to direct focus to a particular aspect of the counseling process; a physical, emotional, or cognitive space; or an outcome'. This is a concept expanding on the idea of 'orientation' statements in the genetic counseling literature. We propose that orienting language is an important component of effective communication in the genetic counseling process. Our goals were to document the presence of orienting language in genetic counseling sessions with practicing genetic counselors and simulated clients, categorize types of orienting language, and evaluate the purpose of this language. A sample of Genetic Counseling Video Project videotape transcripts was evaluated through consensus coding for orienting language. Orienting language was found to be abundant in the dataset evaluated. Each excerpt was coded for orienting language Strategies and Purpose. The six categories of Strategy codes identified were Logical Consistency, Providing Context, Guidance, Structuring the Session, Anchoring, and Procedural. The six categories of Purpose codes were Counselee Understanding, Guidance, Engagement, Promoting Effective Counselor/Counselee Interactions, Counselee Adaptation, and Relationship Building. Results support our expanded definition of orienting language, which was similar in both cancer and prenatal specialties and across years of counselor experience. Orienting language acts as a series of signposts to help clients navigate the sometimes complex and unfamiliar territory of a genetic counseling session. The introduction of this term into the genetic counseling literature allows its use by genetic counselors to be further evaluated and potentially incorporated into genetic counselor training.

Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing.

INTRODUCTION: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers' personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American consumers. METHODS: Twenty semi-structured, qualitative interviews were held with individuals who self-identified as Black/African-American and completed DTC GT between February 2017 and February 2020. Interviews were transcribed and consensus-coded, using inductive content analysis. RESULTS: Participants generally had positive regard for DTC GT. When considering secondary uses of their results or samples, most participants were aware this was a possibility but had little concrete knowledge about company practices. When prompted about potential uses, participants were generally comfortable with research uses but had mixed outlooks on other nonresearch uses such as law enforcement, cloning, and product development. Most participants expressed that consent should be required for any secondary use, with the option to opt out. The most common suggestion for companies was to improve transparency. Compared to European American participants, African-American participants expressed more trust in DTC GT companies compared to healthcare providers, more concerns about law enforcement uses of data, and a stronger expression of community considerations. DISCUSSION/CONCLUSION: This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities' use of data and more reference to community engagement.

Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?

INTRODUCTION: Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results. OBJECTIVE: The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy. METHODS: Twenty DTC GT customers were interviewed about their experiences. The semi-structured interviews were transcribed, coded, and analyzed for common themes. RESULTS: Most participants were aware of some secondary uses of data. All participants felt that data usage for research was acceptable, but acceptability for non-research purposes varied across participants. The majority of participants were aware of the existence of a privacy policy, but few read the majority of the privacy statement. When previously unconsidered uses of data were discussed, some participants expressed concern over privacy protections for their data. CONCLUSION: When exposed to new information on secondary uses of data, customers express concerns and a desire to improve consent with transparency, more opt-out options, improved readability, and more information on future uses and potential risks from direct-to-consumer companies. Effective ways to improve readership about the secondary use, risk of use, and protection of customer data should be investigated and the findings implemented by DTC companies to protect public trust in these practices.

Genetic counselors with advanced skills: I. Refining a model of advanced training.

Advanced training for master's trained genetic counselors has been a topic for many years. In 2016, Baty et al. published a model of advanced training for genetic counselors that interconnects three grids: skills, paths, and positions. The purpose of this qualitative study was to assess how well this model of advanced training reflected the experiences of genetic counselors with advanced genetic counseling skills. Using purposive sampling and deductive content analysis, results of 17 interviews demonstrated that the 3-grid model of advanced genetic counseling skills, paths to attaining these skills, and positions which utilize advanced skills, described elements important for the interviewees' career development. Results suggested refinements to the model in terms of content and organization and also suggested that advanced training be conceptualized as an important element of a career lattice that includes both vertical and horizontal movement. This refined model of genetic counselor advanced training can foster profession-wide career development by stimulating new career paths and career development research.

Genetic counselors with advanced skills: II. A new career trajectory framework.

Career development frameworks help professionals better understand career decision-making, but the genetic counseling field lacks a comprehensive framework to describe career development. The purpose of this qualitative study was to explore commonalities across participants' career trajectories and identify factors which influence decision-making throughout genetic counseling careers. Using purposive sampling, 17 genetic counselors with advanced skills were interviewed about their career trajectories, factors which influenced career decisions, and the process and outcomes of those decisions. Content analysis was both inductive and deductive, employing triangulation techniques to enhance analytic rigor. Results highlighted common experiences and critical processes of interviewees' career trajectories and contributed to the development of the Genetic Counselor Career Trajectory Framework (GCCTF), which depicts an iterative process of considering change in one's career. Each iteration is prompted by predisposing influences (past experiences, personal attributes, and contextual factors), characterized by self-assessment and flexible planning, and completed when a decision about making a change is reached. Multiple iterations collectively create evolution of a career trajectory. The GCCTF adds to existing theories of career development by emphasizing dynamic processes of considering change and applies established concepts to a specialized healthcare profession. Individual genetic counselors can utilize the GCCTF to expand awareness of factors influencing a specific career decision and gain insight into experiences of change across their careers.

Genetic counseling: Growth of the profession and the professional.

Growth of the profession of genetic counseling has gone hand-in-hand with professional development of individual genetic counselors. Genetic counseling has achieved most of the typical early milestones in the development of a profession. The profession is maturing at a time when the number of practitioners is predicted to vastly expand. The last two decades have seen a proliferation of genetic counselor roles and practice areas, and a distinct professional identity. It is likely that the next two decades will see an increase in educational paths, practice areas, and possibilities for professional advancement. How this maturation proceeds will be impacted by overall trends in healthcare, decisions made by international genetic counseling organizations, and thousands of individual decisions about career trajectories.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.

There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master's training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model.

Breaking difficult news in a cross-cultural setting: a qualitative study about Latina mothers of children with down syndrome.

Giving difficult news to patients represents a common dilemma for health care professionals. Based on three decades of research, various authors have proposed guidelines outlining the ideal setting, delivery, and timing. Existing publications focus on patients of European descent and may not be applicable in cross-cultural settings. We explored perceptions of Spanish-speaking mothers who have a child with Down syndrome and how they preferred to receive the news of their child's diagnosis. We conducted semi-structured qualitative interviews (n = 14), which were coded and analyzed by thematic networks to identify common themes. Six significant themes emerged: Cultural Belief System, Communication, Support/Lack of Support, Feelings Engendered, Medical Issues, and Medical System. One overarching theme of mother-child bonding encompassed all sub-themes. The mothers desired the news in a more positive, balanced light and with more complete explanations about the condition. Mothers felt excluded from the diagnostic process and wanted to be better informed about the need for diagnostic studies. Participants used religious beliefs to explain the reason for their child's condition. Many factors influenced Latina mothers' ability to bond initially with their children with Down syndrome. Ideally, these factors should be acknowledged during informing interviews to assist Latino families in adjustment.

Genetic counseling communication with an African American BRCA1 kindred.

We studied communication in genetic counseling sessions conducted with an African American, Breast Cancer 1, Early Onset (BRCA1) kindred in the USA. The Roter Interaction Analysis System (RIAS) was used to code and compare two sessions of 46 participants (26 females and 20 males) before and after they underwent genetic testing. Three certified genetic counselors and one medical geneticist conducted the sessions. When compared to pre-test communication, most of the providers' post-test communication was devoted to the provision of biomedical information (including screening recommendations) with fewer questions and psychosocial statements. Clients contributed a similar proportion to the total session dialogue in pre- and post-test sessions (40%). A larger proportion of their post-test session was devoted to indicating receptiveness to provider information than in the pre-test session. We found when providers were informing clients that they were BRCA1 mutation carriers, they provided more biomedical and psychosocial information and asked more psychosocial questions than when talking with non-carriers. This study provides the first description of genetic counseling communication for pre- and post-test BRCA1 sessions with African American individuals.

Uncertainty in BRCA1 cancer susceptibility testing.

This study investigated uncertainty in individuals undergoing genetic counseling/testing for breast/ovarian cancer susceptibility. Sixty-three individuals from a single kindred with a known BRCA1 mutation rated uncertainty about 12 items on a five-point Likert scale before and 1 month after genetic counseling/testing. Factor analysis identified a five-item total uncertainty scale that was sensitive to changes before and after testing. The items in the scale were related to uncertainty about obtaining health care, positive changes after testing, and coping well with results. The majority of participants (76%) rated reducing uncertainty as an important reason for genetic testing. The importance of reducing uncertainty was stable across time and unrelated to anxiety or demographics. Yet, at baseline, total uncertainty was low and decreased after genetic counseling/testing (P = 0.004). Analysis of individual items showed that after genetic counseling/testing, there was less uncertainty about the participant detecting cancer early (P = 0.005) and coping well with their result (P < 0.001). Our findings support the importance to clients of genetic counseling/testing as a means of reducing uncertainty. Testing may help clients to reduce the uncertainty about items they can control, and it may be important to differentiate the sources of uncertainty that are more or less controllable. Genetic counselors can help clients by providing anticipatory guidance about the role of uncertainty in genetic testing.

Risk reduction behaviors and provider communication following genetic counseling and BRCA1 mutation testing in an African American kindred.

Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial and ethnic subgroups. This prospective observational study examined use of risk reduction strategies following BRCA1 counseling and testing. Participants were female members of an African American kindred who received genetic education, counseling and testing (n = 40) and completed a 1-year follow-up interview. Mutation carriers were more likely to opt for breast (100%, 7/7) and ovarian (25%; 1 of 4) cancer surveillance than prophylactic surgery. Following genetic counseling, 71% (5/7) of the BRCA1 carriers who opted for surveillance reported having a mammogram within the year following receipt of their genetic test results. Ovarian cancer screening among mutation carriers increased from 0% at baseline to 25% (one of four) at 1 year. Compared to noncarriers (23%, 7/30), carriers (70%, 7/10) were more likely to discuss their BRCA1 test results with their primary health care providers. Surveillance for breast cancer was preferred to prophylactic surgery and chemoprevention as a way to reduce risk for these cancers. Our data indicate that patient-provider communication about BRCA1 test results is suboptimal.

Exploring genetic counseling communication patterns: the role of teaching and counseling approaches.

The educational and counseling models are often touted as the two primary professional approaches to genetic counseling practice. Yet, research has not been conducted to examine how these approaches are used in practice. In the present study, we conducted quantitative communication analyses of BRCA1 genetic counseling sessions. We measured communication variables that represent content (e.g., a biomedical focus) and process (e.g., passive listening) to explore whether genetic counselor approaches are consistent with prevailing professional models. The Roter Interaction Analysis System (RIAS) was used to code 167 pre-test genetic counseling sessions of members of a large kindred with an identified BRCA1 mutation. Three experienced genetic counselors conducted the sessions. Creating composite categories from the RIAS codes, we found the sessions to be largely educational in nature with the counselors and clients devoting the majority of their dialogue to providing biomedical information (62 and 40%, respectively). We used cluster analytic techniques, entering the composite communication variables and identified four patterns of session communication: Client-focused psychosocial, biomedical question and answer, counselor-driven psychosocial, and client-focused biomedical. Moreover, we found that the counselors had unique styles in which they combined the use of education and counseling approaches. We discuss the importance of understanding the variation in counselor communication to advance the field and expand prevailing assumptions.

Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred.

Clinical availability of genetic testing for cancer predisposition genes is generating a major challenge for U.S. health care systems to provide relevant genetic services to underserved populations. Here we present rates of study enrollment and utilization of genetic testing in a research study on BRCA1 testing acceptance in one large kindred. We also present data on baseline access to genetic information as well as enabling and obstructing factors to study enrollment. The study population included female and male members of an African American kindred based in the rural southern United States with an identified BRCA1 mutation. A combination of quantitative and qualitative data were collected and analyzed. Of the 161 living, eligible, and locatable kindred members, 105 (65%) enrolled in the study. Family, personal, and educational motivations were the most commonly endorsed reasons for study participation. The most commonly cited reasons for refusal to participate in the study were: lack of interest, time constraints, and negative experiences with prior participation in genetic research. Eighty three percent of the participants underwent BRCA1 testing. In multiple logistic regression analysis, age 40-49 (odds ratio (OR) = 6.9; 95% confidence interval (CI) = 1.2-39.5), increased perceived risk of being a BRCA1 mutation carrier (OR = 4.1; 95% CI = 1.1-14.6), and high cancer genetics knowledge levels (OR = 1.5; 95% CI = 1.1-2.3) were associated with BRCA1 testing acceptance. The results of this study indicate that cognitive and demographic factors may influence genetic research participation and genetic testing decisions among African Americans who are at increased risk of carrying a deleterious BRCA1 mutation.

Genetic counseling and ethical issues for autism.

Exciting progress is being made in the journey toward discovery of genes conferring risk for autism and autism spectrum disorders. Currently, genetic counseling for idiopathic autism rests on clinical diagnosis and empiric risk estimates. While no genetic test for risk of autism currently exists, it is possible that such a test may emerge in the near future, and that commercial availability may precede adequate understanding of test characteristics. The complexity of multifactorial conditions like autism raises a host of ethical and counseling challenges. For families to benefit from new genetic knowledge about autism, it will be important for their practitioners to be knowledgeable about the issues, utilize appropriate educational interventions and emerging management options, and help families across the cultural spectrum cope with these challenges.

The impact of receiving genetic test results on general and cancer-specific psychologic distress among members of an African-American kindred with a BRCA1 mutation.

BACKGROUND: Numerous studies have examined short-term and long-term psychologic responses to genetic testing for breast/ovarian carcinoma susceptibility in clinic samples and among families who participated in genetic linkage studies. However, to the authors' knowledge, the vast majority of studies focused on non-Latino whites and women. In this prospective study, the authors investigated the psychologic impact of receiving carrier-specific BRCA1 test results as part of a genetic education/counseling intervention in female and male members of an African-American kindred with a BRCA1 mutation. METHODS: Eighty-five of 101 participating kindred members (84%) underwent genetic counseling/education and testing according to an established protocol. Participants completed in-person or telephone-administered, computer-assisted interviews. At baseline and after the receipt of test results (1 mo, 4 mos, and 12 mos), general psychologic distress (i.e., anxiety and depression) and cancer-specific distress were measured. Statistical analyses were performed using linear mixed-model approaches for longitudinal data. RESULTS: The hypothesis that mutation carriers, particularly women who had no personal history of breast carcinoma, were expected to report greater distress than noncarriers was not supported. After controlling for socioeconomic status and personal history of breast/ovarian carcinoma, noncarriers reported significant declines in the distress measures (depressive symptoms, anxiety and cancer-related worries), whereas distress was not altered markedly in carriers after genetic risk notification. CONCLUSIONS: The current findings suggested that individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation may experience psychologic benefits. Furthermore, those who learned that they were mutation carriers did not appear to have adverse, clinically meaningful psychologic outcomes.

Communication analysis of BRCA1 genetic counseling.

In this study, we apply an existing medical communication coding system to BRCA1 genetic counseling sessions, describe the session dynamics, and explore variation in session communication. The sample was comprised of 167 members of an identified BRCA1 kindred whose pretest counseling session was audiotaped and coded using Roter's Interaction Analysis System (RIAS). Three certified genetic counselors followed a research protocol that dictated areas to be covered in the counseling session. We found that it was feasible to code long, protocol driven BRCA1 sessions in a quantitative manner without the use of transcripts and capture the dialogue of all session participants. These findings support the use of RIAS in genetic counseling research. Our results indicate that these BRCA1 sessions were predominantly educational in nature with minimal dialogue devoted to psychosocial issues. We found that participant gender, presence of a client companion, and counselor identity influence session communication.

Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing.

Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non-carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high-risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered BRCA1 mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer-assisted telephone interviews at baseline (prior to genetic counseling and testing), 1-2 weeks, 4-6 months, 1 and 2 years after the provision of test results. Mutation carriers, non-carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self-exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non-carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non-carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post-testing. At 2 years, 83% of the carrier women and 74% of the non-carriers reported adherence to recommendations for breast self-exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high-risk individuals who received information about testing. Both carriers and non-carriers increased their utilization of mammography and breast self-exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing.