Identifying potential LGBTQIA+ competencies for genetic counseling student training.

The LGBTQIA+ community faces considerable health disparities. Developing and integrating LGBTQIA+ competencies into healthcare provider training programs is one way to promote inclusive high-quality care to potentially improve this community's health. Currently, there are no established LGBTQIA+-specific competencies for genetic counseling graduate programs (GCPs), so training across GCPs likely varies. This qualitative focus group-based study aimed to explore current topics related to genetic counseling (GC) for LGBTQIA+ patients covered in North American GCPs, their learning objectives, and LGBTQIA+-specific competencies that GC students (GCSs) should achieve by graduation. Eligible participants were program leaders at ACGC-accredited GCPs and/or faculty who taught LGBTQIA+-related content in at least one GCP over the last 5 years. A semistructured interview guide was used to conduct virtual focus groups that were recorded and transcribed. Transcripts were analyzed using reflexive thematic analysis and an inductive iterative approach that generated themes regarding what content is taught and what knowledge, attitudes, and skills GCSs should demonstrate as a result. Thirteen people participated, including nine LGBTQIA+ people. They represented 12 GCPs (22% of current GCPs) across the United States and Canada. Focus groups ran 73-90 min. Transcript analysis identified six themes, framed as learning objectives (LOs), and 24 subobjectives. These included recognizing the breadth of the LGBTQIA+ community and their lived experience with the healthcare system, demonstrating respect for and responding to patient identities to provide inclusive GC, employing strategies to mitigate social aspects that influence health care, and assessing personal biases and the impact of socialization. Participants used several teaching methods including didactic lectures, simulation, written activities, reflections, and fieldwork experiences. The six identified LOs may be a starting point for GCPs looking to develop or refine their LGBTQIA+ curricula. Competency-based education may enhance GCSs' abilities to provide inclusive GC to the LGBTQIA+ community.

Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan.

Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic counselors and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated. The purpose of this work is to describe the self-perceived knowledge, clinical comfort, and perspectives of Pakistani medical students toward their medical genetics' education. A web-based survey was distributed electronically to medical schools around the country. The survey comprised of four sections: (1) participant demographics, (2) self-perceived medical genetics knowledge, (3) level of comfort in applying genetic knowledge and skills, and (4) attitudes toward medical genetics education. Descriptive statistics and a one-way analysis of variance were used for data analysis. Medical students in years 3, 4, and 5 (n = 473) from 25 medical schools participated in this research representing medical education in four Pakistani provinces. Most medical students reported "minimal" to "basic" knowledge of genetic testing methodology (64.7%), cancer genetics (64.9%), prenatal genetic testing (63.02%), and treatment strategies for genetic disease (72.9%). A plurality of students (37%) reported they were uncomfortable with interpreting and communicating genetic test results to patients. Medical students also expressed dissatisfaction with their medical genetics (40%) and genetic counselors training (42%). The self-perceived knowledge and clinical comfort with genetics among Pakistani medical students was limited, especially regarding genetic testing. A significant portion (74.5%) expressed desire for additional genetics education during medical school to aid in their role as future physicians. It is important for physicians-in-training to have a solid understanding of genetic concepts, technologies, and genetic counseling to best support their patients. As endorsed by the participating medical students, this study supports inclusion of more robust genetics' education into Pakistan's medical school curricula.

The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.

This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus-Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age from 7 to 48 years, who had a documented PLP1 gene duplication. The study examined and analyzed the medical and developmental histories of the subjects utilizing a combination of resources that included medical history questionnaires, medical record reviews, and a 31-point functional disability scale that had been previously validated. The data extracted from the medical records and questionnaires for analysis included information related to medical and developmental histories, level of ambulation and cognition, and degree of functional disability. The summation of findings among the study population demonstrated that the presenting symptoms, developmental milestones achieved, and progression of symptoms reported are consistent with many previous studies of patients with PLP1 duplications. All patients exhibited onset within the first year of life, with nystagmus predominating as the first symptom noticed. All patients exhibited delays in both motor and language development; however, many individuals were able to meet several developmental milestones. They exhibited some degree of continued motor impairment with none having the ability to walk independently. All patients were able to complete at least some of the cognition achievements and although not all were verbal, a number were able to use communication devices to complete these tasks. A critical tool of the study was the functional disability scale which provided a major advantage in helping quantify the clinical course of PMD, and for several, we were able to gather this information at more than one point in time. These reported findings in our cohort contribute important insight into the clinical heterogeneity and potential underlying mechanisms that define the molecular pathogenesis of the disease. This is one of only a small number of natural history studies examining the clinical course of a cohort of patients with PLP1 duplications within the context of a validated functional disability scoring system. This study is unique in that it is limited to subjects with PLP1 gene duplications. This study demonstrated many commonalities to other studies that have characterized the features of PMD and other PLP1-related disorders but also provide significant new insights into the evolving story that marks the natural history.

Investigating factors that influence genetic counselors' decisions to refer patients to mental health providers.

Genetic counselors (GC) serve patients who are often in distress at the time of their consultation. GC competency includes providing short-term, client-centered counseling, while using community resources, such as mental health providers (MHPs), for psychosocial support. The purpose of this study was to assess the mental health referral practices of GCs; specifically, the rate of referrals, factors influencing a GC's decision to refer, and barriers to referrals. GCs working in direct patient care for at least one year were recruited to take a novel 27 question survey created based on the results of a previous qualitative study. A link to the web-based survey was distributed through the National Society of Genetic Counselors Student Research Program and American Board of Genetic Counselors by email. A total of 144 individuals opened the survey for an estimated response rate of 3%. A majority of respondents (54.3%) reported they assess a patient's need for a mental health referral at least half of the time. The mean number of referrals made in the past 12 months was 5.13. After post-hoc analyses, there were no differences in referral rates between specialties. Common referral indications included patient history of mental illness, distress about having a genetic condition, and limited social support. Common barriers to referral were financial or insurance related, patient receptiveness, and the patient not perceiving a benefit. GCs felt that providing psychosocial support is within their scope of practice, but that MHPs are better equipped to manage long-term needs and those related to a mental health condition. This study provides insight into how GCs decide when they can manage patient distress, circumstances that prompt a referral to MHPs, and barriers. Recognizing common referral indications and barriers may lead to better strategies for connecting patients with such services.

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.

Teaching medical students how to deliver diagnoses of Down syndrome: Utility of an educational tool.

OBJECTIVE: This study assessed whether using an educational tool increased the knowledge and perceived comfort level of first-year medical students in giving a diagnosis of Down syndrome. METHOD: A total of 295 students taking a genetics course completed a knowledge questionnaire and Situations Inventory (aimed at assessing comfort with sharing certain information), prior to and following use of Brighter Tomorrows, a web-based educational module on giving parents a diagnosis of Down syndrome. RESULTS: The pre-intervention mean on the knowledge survey was 3.67, which significantly increased to 5.47 following the intervention. Mean Situational Inventory scores were significantly higher pre-intervention (M = 45.5), which indicates greater discomfort, compared to post-intervention (M = 36.7). Qualitative analysis of responses regarding lessons learned fell into 5 major themes. The most common theme (48% of responses) was related to communication skills. The most frequently cited lesson learned was the importance of demonstrating empathy. CONCLUSIONS: This study found that knowledge and perceived comfort levels of first-year medical students in giving a postnatal diagnosis of Down syndrome were significantly increased following use of an educational tool. PRACTICE IMPLICATIONS: Educational modules can provide medical students with foundational knowledge on providing distressing information to help prepare for future clinical encounters.

Genetic counselor workflow study: The times are they a-changin'?

Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face-to-face with patients in comparison to the time spent on patient-related activities (PRA). We aimed to perform a real-time workflow study of GCs representing multiple clinics and specialties. We developed an electronic collection tool formatted in 15-min increments for real-time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list. Participants were Michigan GCs recruited via email solicitation. Sixteen of an estimated 70 patient-facing GCs (23%) representing prenatal, cancer, adult, and pediatric genetics took part by completing a demographic survey and the workflow study. The GCs reported spending approximately 20% of their time face-to-face with patients, 64% on PRA including case preparation, follow-up, and administrative tasks, and 16% on tasks unrelated to direct patient care. They saw a mean of 10 patients/week with a mean session length of 47 min. Approximately 3 hr of PRA were performed for the 0.78 hr (47 min) of face-to-face time with a patient. The most time-consuming task in the PRA category was letter writing. Identifying strategies to reduce the amount of time spent on PRA could increase the amount of available time GCs have to spend on providing face-to-face services and subsequently, the number of patients seen. Such efforts are critical to help meet the growing demand for genetic counseling services.

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature.

Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify, inform, and manage those who are also at risk. We conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. We searched for relevant peer-reviewed literature in the period 1990-2017 and reviewed 122 studies. Finally, we described 45 statutes and regulations related to the use and release of genetic information across the fifty states. We sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but we found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach. Major barriers to cascade screening delivery include suboptimal communication between the proband and family and geographic barriers to obtaining genetic services. Few US studies examined interventions for cascade screening or used rigorous study designs such as randomized controlled trials. Moving forward, there remains an urgent need to conduct rigorous intervention studies on cascade screening in diverse US populations, while accounting for state policy considerations.

Referrals to Mental Health Services: Exploring the Referral Process in Genetic Counseling.

Genetic counselors (GCs) are trained to identify and attend to distress; however, GCs may have patients with distress better managed by mental health professionals (MHPs). To understand the GCs' role in mental health care, we explored patient cues prompting GCs to refer to MHPs and where GCs thought their expertise in managing patient distress ended. We recruited GCs who have referred a patient for mental health services within the last year to participate in an interview study. A twelve-question interview guide explored GC demographics, reasons for referrals to MHPs, the obstacles to referrals, and perceived differences in counseling competencies between GCs and MHPs. Twenty-eight semi-structured interviews were conducted, recorded, and transcribed verbatim. Transcripts were analyzed using an inductive approach, consisting of reading a subset of transcripts and assigning codes to meaningful segments of text. Common reasons for referral included the GC's perception of the patient having limited social support, or when the patient indicated significant anxiety related to their at-risk status or recent diagnosis. GCs felt they referred when they were limited by time and training to provide adequate psychosocial services. The participants in this study acknowledged that their scope of practice is limited to short-term, client-centered counseling. Our findings are a first step in helping increase GCs' awareness of factors that contribute to the referral process to MHPs.

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients.

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today's clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome.

The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008-2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR), reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria) were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral). Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets) were viewed 1624 times and downloaded 764 times. Satisfaction among the subset of users applying for continuing medical education credit was high. The online educational module had a much broader reach than the bidirectional reporting initiative but to a self-selected audience. Combining targeted and broad-based provider education efforts may be a better way to increase HBOC awareness in the target audience, starting with those providers seeing the largest proportion of patients at risk.

"Be Prepared if I Bring It Up:" Patients' Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling.

As debates continue about the relevance of religion to health care, research is needed to guide decisions about whether genetic counselors (GCs) should routinely address religious and/or spiritual (R/S) issues with their patients. We conducted an online survey to gauge patient perspectives on this issue. Among the 70 respondents, frequencies of closed-ended responses and thematic analyses of open-ended responses revealed multiple patient concerns related to R/S discussions with GCs. Although 60 respondents reported being R/S, only a small minority would want to discuss R/S issues if it meant less time discussing medical information. Most respondents also expressed opinions that: 1) genetic counseling should be about science; 2) GCs are not qualified to discuss R/S issues; 3) other outlets are available to meet the needs of patients who want R/S counseling; and/or 4) R/S discussions are more likely to be acceptable if patients broach the topic or in specific circumstances (e.g., when patients are facing end-of life issues). Overall, responses suggest routine or comprehensive R/S assessments or discussions are not necessary and that GCs would be best equipped to help all their patients if they were prepared to listen, be supportive, and make referrals when R/S issues arise in clinic.

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.

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.

Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population.

Multiplex genetic carrier screening is increasingly being integrated into reproductive care. Obtaining informed consent becomes more challenging as the number of screened conditions increases. Implementing a model of generic informed consent may facilitate informed decision-making. Current Wayne State University students and staff were invited to complete a web-based survey by blast email solicitation. Participants were asked to determine which of two generic informed consent scenarios they preferred: a brief versus a detailed consent. They were asked to rank the importance of different informational components in making an informed decision and to provide demographic information. Comparisons between informational preferences, demographic variables and scenario preferences were made. Six hundred ninety three participants completed the survey. When evaluating these generic consents, the majority preferred the more detailed consent (74.5%), and agreed that it provided enough information to make an informed decision (89.5%). Those who thought it would be more important to know the severity of the conditions being screened (p = .002) and range of symptoms (p = .000) were more likely to prefer the more detailed consent. There were no significant associations between scenario preferences and demographic variables. A generic consent was perceived to provide sufficient information for informed decision making regarding multiplex carrier screening with most preferring a more detailed version of the consent. Individual attitudes rather than demographic variables influenced preferences regarding the amount of information that should be included in the generic consent. The findings have implications for how clinicians approach providing tailored informed consent.

Parental strategies to help children with phenylketonuria (PKU) cope with feeling different.

This study assessed feelings of differentness in children with phenylketonuria (PKU) and elicited parental coping strategies. A total of 22 parents of 7- to 12-year-old patients with PKU completed qualitative interviews, which assessed whether they think their children feel different from their peers and identified potential solution strategies. The results showed that most parents indicated their child feels different due to PKU, which is frequently triggered by situations surrounding food. PKU community involvement and educating others about PKU were perceived by parents as useful coping strategies. Talking to children about differences was frequently used but one of the least effective strategies. Extended family, clinicians, and teachers also attempted to help children cope with feeling different with varying degrees of success. We concluded that most parents perceive that their child with PKU feels different and have developed strategies to manage these feelings. However, a subset struggle with helping their child cope and may benefit from assistance from healthcare providers.