An examination of the factors contributing to the expansion of subspecialty genetic counseling.

In recent years, genetic counselors have moved into increasingly varied areas of patient care. Yet limited information is known about how these genetic counselors transitioned from more general clinical practice to subspecialized practice. This study was designed to answer three research questions: (1) What common factors establish a need for a genetic counselor in a subspecialty setting? (2) How do genetic counselors in subspecialties establish their positions? (3) Once established, how do the positions of these genetic counselors evolve as the subspecialty expands? Phone interviews with subspecialized genetic counselors led to the development of an online survey distributed through the National Society of Genetic Counselors ListServ. Sixty-eight of the 144 initial participants met eligibility criteria for participation as subspecialty genetic counselors in a clinical role. Physician interest in hiring a genetic counselor, clinical need, genetic counselor interest in subspecialty area, and available genetic testing were commonly reported as contributing factors to position creation. Most subspecialty genetic counseling positions were created as new positions, rather than evolved from a previous position. Over time, subspecialty positions drew more departmental funding and included increased clinical coordination or administrative responsibilities. The results of this study can encourage genetic counselors to collaborate with their medical institutions to utilize their skill-set in diverse areas of patient care.

Development and Initial Assessment of a Patient Education Video about Pharmacogenetics.

As few patient-friendly resources about pharmacogenetics are currently available, we aimed to create and assess a patient educational video on pharmacogenetic testing. A primary literature and resources review was conducted to inform the content and the format of the video. The educational video was then created using a commercially available animation program and pilot tested in focus groups of the general public and by an online survey of pharmacists. Emerging themes from the focus groups and survey indicate a desire for appropriate risk contextualization and specific examples when pharmacogenetic testing may be beneficial. Focus group participants also expressed a preference for a video with live action, and more text to reinforce concepts. Pharmacists generally felt that the video was understandable for patients and relevant for decision-making regarding testing. Using this initial feedback and the identification of important concepts to include in pharmacogenetics educational tools, we plan to revise the video, perform additional evaluations, and publish the video for public use in the future.

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.

Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.

Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome (22q11DS) is the most common microdeletion in humans. There have been few studies assessing the impact of this condition on the family and no previous studies conducted on unaffected siblings of children with 22q11DS. The goal of this study was to determine the frequency, method, and content of information being communicated by parents to unaffected siblings about the condition and to assess unaffected siblings' knowledge of 22q11DS and perceptions of the impact of the condition on their affected sibling and themselves. Families were recruited from several 22q11DS educational and support organizations and asked to complete a single anonymous online survey. Families were eligible to participate if they had one child with 22q11DS and at least one unaffected child between the ages of 12 and 17. Survey questions were developed based on previous literature and authors' expertise with individuals with 22q11DS. Responses to quantitative and qualitative questions were analyzed to calculate frequencies and proportions and to extract themes, respectively. A total of 25 families (defined as a unit of at least one parent, one affected child, and at least one unaffected child) participated in the study. Parents shared genetic information less often as compared to behavioral and medical information. Siblings of children with 22q11DS had both positive and negative experiences in having a brother or sister with this condition. Genetic counselors can use the results of this study to develop anticipatory guidance for parents of children with 22q11DS in talking with their unaffected children about the condition.

Public health genetic counselors: activities, skills, and sources of learning.

Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of "traditional" genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants (N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers (n = 80, 52 %), (b) Population-Based Screening Programs (n = 70, 45 %), (c) Lobbying/Public Policy (n = 62, 40 %), (d) Public Health Related Research (n = 47, 30 %), and (e) State Chronic Disease Programs (n = 12, 8 %). Regardless of category, "on the job" was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves "public health genetic counselors" do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge.

The incorporation of predictive genomic testing into genetic counseling programs.

This study explored whether genetic counseling programs are incorporating instruction about the applications and techniques of predictive genomic testing (PGT) based on student recollection, and whether this is perceived as adequate by those students. For the purpose of this study, PGT was defined as the use of genome-based testing to assess a person's risk, or susceptibility, of developing a disorder with either a known or suspected genetic component. Surveys from 114 graduates were analyzed. The majority of respondents indicated that PGT was covered in their curriculum including methodology, information generated, benefits, risks, limitations, and impact on the field of genetic counseling. A statistically significant increase in incorporating information about PGT as a whole from 2008 to 2011 was also reported. The majority of respondents reported that coverage of PGT prepared them for the American Board of Genetic Counseling (ABGC) board exam (80.6 %), to interpret PGT test results (60.2 %) and to identify clinical situations warranting testing (53.1 %). Although the majority of respondents indicated learning about a wide variety of aspects surrounding PGT, many recent graduates indicated their training was less likely to cover aspects essential for the clinical application of PGT. Therefore, genetic counseling programs should place a greater emphasis on these skills, and the development of continuing education opportunities aimed at increasing genetic counselors abilities to interpret and discuss PGT tests and identify clinical situations warranting such testing may be helpful.

Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.

About 10 % of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5 % will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27-50 CGG repeats). For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications.

Genetic counseling supervisor competencies: results of a Delphi study.

Clinical supervision is a critical component of genetic counseling student preparation, yet empirically-determined competencies for genetic counseling supervisors are lacking. In this study a modified, two-round Delphi method was used to gain consensus about important genetic counseling supervisor knowledge, characteristics, and skills. Program directors and assistant directors of American Board of Genetic Counseling accredited genetic counseling programs in North America (N = 33) were invited to participate and to recruit three experienced supervisors. Seventy-four individuals completed Round 1 and, of these, 61 completed Round 2. Approximately two-thirds were clinical supervisors from prenatal, pediatrics, cancer, and adult clinics; one-third were program directors. Participants rated the importance for genetic counseling supervisors of 158 items derived from supervision literature in allied health professions. They rated 142 items (89.9 %) as highly important. Content analysis of these items yielded six supervisor competency domains: Personal traits and characteristics; relationship building and maintenance; student evaluation; student centered supervision; guidance and monitoring of patient care; and ethical and legal aspects of supervision. The results provide a basis for training genetic counseling supervisors and for further research to refine and validate supervisor competencies.

Biotech 101: an educational outreach program in genetics and biotechnology.

Recent advances in research and biotechnology are making genetics and genomics increasingly relevant to the lives and health of the general public. For the public to make informed healthcare and public policy decisions relating to genetic information, there is a need for increased genetic literacy. Biotech 101 is a free, short-course for the local community introducing participants to topics in genetics, genomics, and biotechnology, created at the HudsonAlpha Institute for Biotechnology. This study evaluated the effectiveness of Biotech 101 in increasing the genetic literacy of program participants through pre-and-post surveys. Genetic literacy was measured through increases in self-perceived knowledge for each content area covered through the course and the self-reported impact the course had on various aspects of participants' lives. Three hundred ninety-two individuals attended Biotech 101 during the first three course offerings. Participants reported a significant increase in self-perceived knowledge for each content area (p < 0.01). Participants also reported the program had high levels of impact on their lives and decision-making, a high likelihood for continued self-learning, and overwhelming satisfaction with course content and logistics. Biotech 101 is an effective mechanism for impacting participants' lives and genetic literacy and serves as a model for other similar programs, adding to the currently limited evidence base regarding public educational strategies in genetics and biotechnology.

Boundary issues and multiple relationships in genetic counseling supervision: supervisor, non-supervisor, and student perspectives.

Boundary issues and multiple relationships potentially affect all supervision interactions. Boundary crossings are departures from the strictest professional role and may or may not benefit supervisees. Boundary violations are outside common practice and may place supervisees at significant risk. Multiple relationships occur when supervisors concurrently or consecutively hold two or more roles with supervisees. Studies in other fields indicate supervisors and supervisees may be uncertain about professional conduct regarding these issues. In this study, genetic counselor supervisors (n = 126), non-supervisors (n = 72), and genetic counseling students (n = 129) completed an anonymous survey investigating four major questions: 1) Are various boundary issues and multiple relationships perceived as differentially appropriate? 2) Do supervisor, non-supervisor, and student perceptions differ? 3) What challenging situations have respondents experienced? and 4) What management strategies did they use? There was general agreement among groups in their appropriateness ratings of 56 hypothetical supervisor behaviors, although supervisor ratings tended to reflect stricter boundaries regarding the appropriateness of interactions than student ratings. A majority rated unavoidable boundary crossings and supervisor multiple relationships involving an academic relationship as most appropriate, and romantic/sexual multiple relationships and/or boundary violations as least appropriate. Analysis of respondents' actual challenging situations revealed many involved boundary violations, placed students at risk of harm, and often resulted in student compliance.

Attitudes and practice of genetic counselors regarding anonymous testing for BRCA1/2.

Patients and clinicians alike view anonymous testing as a potential way to avoid perceived risks of genetic testing such as insurance and employment discrimination and the potential loss of privacy. To assess their experience with and attitudes towards anonymous testing for BRCA1/2, genetic counselors were invited to complete an internet-based survey via the NSGC Familial Cancer Risk Counseling Special Interest Group (FCRC-SIG) listerv. A majority of the 115 respondents (70%) had received requests from patients for anonymous BRCA1/2 testing at some point in their careers and 43% complied with this request. Most counselors, however, encountered such requests infrequently, 1-5 times per year. Although genetic counselors do not generally encourage anonymous testing and over a third of respondents feel it should never be offered, a substantial subset support its use under specific circumstances. In general, a strong consensus exists among counselors that anonymous testing should not be offered routinely. In light of the current legislative landscape, it is of note that a substantial proportion of respondents (42.7%) cited the threat of life insurance discrimination as a reason for pursuing AT, and fewer cited health insurance (30.0%) or employment discrimination (29.1%) as justifications. Since there exists no federal legislative protections against discrimination by life insurance companies, it makes sense that genetic counselors were more responsive to this issue as opposed to the threat of discrimination in health insurance and employment.

Genetic counseling practice analysis.

The American Board of Genetic Counseling (ABGC) performed a genetic counseling practice analysis (PA) to determine the content of the certification examination. The ABGC-appointed PA Advisory Committee worked with psychometricians to develop a survey which was distributed to 2,038 genetic counselors in the United States and Canada. The survey was also accessible on the ABGC website. Multiple criteria were used to establish the significance of the tasks included in the survey. A total of 677 responses were used in the analysis, representing a 37.1% corrected response rate. Five major content domains with 143 tasks were identified in the PA. New certification test specifications were developed on the basis of PA results and will be used in developing future examination forms. In keeping with credentialing standards, ABGC plans to conduct a PA on a regular basis so that the content of the examination reflects current practice.

Supervision of psychosocial skills in genetic counseling.

Little has been written about how genetic counseling supervisors can help students develop psychosocial skills in their clinical rotations. The authors describe several approaches supervisors can use, ranging from preventive measures (e.g., normalizing anxiety), to skill-enhancing interventions (e.g., modeling and thinking aloud), to more direct approaches (e.g., immediacy, confrontation) that may be necessary for students who are reluctant, or even resistant, to using psychosocial skills with their clients.

2005 National Society of Genetic Counselors presidential address: raising our voice.

This Presidential Address was given at the annual education conference of the National Society of Genetic Counselors in Los Angeles, California, USA on November 14, 2005.