Linking genetic counseling communication skills to patient outcomes and experiences using a community-engagement and provider-engagement approach: research protocol for the GC-PRO mixed methods sequential explanatory study.

INTRODUCTION: In over 50 years since the genetic counseling (GC) profession began, a systematic study of GC communication skills and patient-reported outcomes in actual sessions across multiple clinical specialties has never been conducted. To optimize GC quality and improve efficiency of care, the field must first be able to comprehensively measure GC skills and determine which skills are most critical to achieving positive patient experiences and outcomes. This study aims to characterise GC communication skills using a novel and pragmatic measure and link variations in communication skills to patient-reported outcomes, across clinical specialties and with patients from diverse backgrounds in the USA. Our community-engagement and provider-engagement approach is crucial to develop recommendations for quality, culturally informed GC care, which are greatly needed to improve GC practice. METHODS AND ANALYSIS: A mixed methods, sequential explanatory design will be used to collect and analyze: audio-recorded GC sessions in cancer, cardiac, and prenatal/reproductive genetic indications; pre-visit and post-visit quantitative surveys capturing patient experiences and outcomes and post-visit qualitative interview data. A novel, practical checklist will measure GC communication skills. Coincidence analysis will identify patterns of GC skills that are consistent with high scores on patient-reported measures. Two-level, multilevel models will be used to evaluate how GC communication skills and other session/patient characteristics predict patient-reported outcomes. Four community advisory boards (CABs) and a genetic counselor advisory board will inform the study design and analysis. ETHICS AND DISSEMINATION: This study has been approved by the single Institutional Review Board of the University of Minnesota. This research poses no greater than minimal risk to participants. Results from this study will be shared through national and international conferences and through community-based dissemination as guided by the study's CABs. A lay summary will also be disseminated to all participants.

Exploring genetic counselors' experiences with non-paternity in clinical settings.

Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated. Our semi-structured interviews with genetic counselors in the United States and Canada were analyzed using reflexive thematic analysis to analyze data inductively, describe themes, and present a meaningful interpretation of the data. Eighteen participants who responded to list-serv messages were interviewed. Our framework describes five salient themes: (1) GC-lab relationship: the GCs awareness of laboratory processes such as quality control metrics that can uncover NP findings and the way in which a finding of NP was disclosed by the laboratory had an impact on disclosure decisions. This triggered a decision-making trajectory that involved (2) consultation, (3) ethical reasoning, and (4) practical constraints. GCs frequently consulted other professionals during decision-making. These conversations impacted disclosure decisions with some consultations carrying greater weight than others. GCs weighed moral concepts of patient autonomy, medical relevance, and preventing harm to rationalize decisions. Access to patients and documentation requirements often dictated how disclosure occurred. Finally, once a decision had been made and enacted, GCs used the experience to reconsider their approach to (5) consenting in future cases, with some GCs altering their pre-test counseling to always include a discussion of NP. Although NP scenarios are frequently unique in context, our findings demonstrate several common decision-making factors GCs harness to navigate the identification of NP through clinical genetic testing.

Inconvenient sampling: Community-engaged and restorative justice approaches to genetic counseling student research.

Genetic counseling research requires a comprehensive approach since it frequently serves as the foundation for clinical care practice. Genetic counseling students play a pivotal role in advancing the profession, as they contribute a significant proportion of the research conducted within the genetic counseling community. However, a prevailing trend of convenience sampling of genetic counselors has limited the diversity of perspectives in student research projects. This article promotes a strategy for greater inclusivity and equity in research by emphasizing community-engaged and empowered research through the perspective of restorative justice. Reflecting on the shadow of the harmful ideologies of eugenics in our profession underscores the need to amplify patients' voices and diverse experiences. Community-engaged research-in collaboration with individuals, families, and communities directly impacted by genetic counseling-transcends traditional research paradigms, empowering patients and addressing systemic inequities. Incorporating community-engaged research into genetic counseling student projects aims to empower future professionals to better understand patient perspectives and needs while working toward addressing historical injustices. This article explores the potential benefits and pathways of incorporating community-engaged research and restorative justice principles into genetic counseling scholarly work, promoting empathy, cultural responsiveness, and ultimately, a more patient-centered approach to research and clinical care. By embracing this collective journey toward authentic partnership in the production of high-quality evidence in genetic counseling student research and more broadly, genetic counseling can become a more just and inclusive practice.

The State of National Institute of Health Awards for funding genetic counseling research, resources, and training over the past decade.

Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and training. In this study, we aimed to characterize awards from the United States' National Institutes of Health (NIH) over the past 10 years that support research related to genetic counseling. A search of the NIH RePORTER database conducted on April 25, 2022, using terms broadly related to genetic counseling, identified 3993 awards from fiscal years 2011 to 2022. After deduplication, 1231 grants were reviewed for screening. The final dataset included 43 awards of various types with the majority being research or R series grants [R01 (n = 17), R21 (n = 7)]. The remaining awards were Cooperative Agreements (U01, n = 6), intramural (Z-grants, n = 5), Center Core (P30, n = 2), Specialized Center (P50, n = 1), Career Development Award (K01, n = 1), Other Transactions (OT2, n = 1), Resource Program (G13, n = 1), and Research Training and Fellowship (T32, n = 1). Most grants were awarded between 2019 and 2022 (n = 24, 55.8%). The majority of awards were categorized as studies that included a comparison of different genetic counseling models (n = 23), outcomes of implementing genetic counseling (n = 11), core resources for genetic counselors (n = 5), and genetic counseling training programs (n = 4). Thirteen of the awards (30.2%) had a specific aim/goal/focus on underserved or underrepresented populations. The topics were predominantly related to cancer (n = 26). Nine awards were led or co-led by a genetic counselor (20.9%). Despite significant growth in genetic counseling research support from US-based funders over the past 3 years, major gaps related to funding exist, including that most award recipients are not genetic counselors.

Exploration of support for Black, Indigenous, and people of color students in genetic counseling programs.

Students in higher education who identify as Black, Indigenous, and people of color (BIPOC) experience racism, discrimination, and microaggressions through tokenization, hypervisibility, invisibility, and marginalization. The experiences of BIPOC genetic counseling students with curriculum, clinical training, and sense of belonging also differ. Therefore, there is a large need for understanding how support is defined by BIPOC genetic counseling students, and then how to integrate specific aspects of training into a practical framework for programs to address racism and the resulting emotional implications. This study aimed to define current practices of support and identify gaps in genetic counseling programs as described by BIPOC students. BIPOC genetic counseling students (N = 40) were recruited through Listserv, social media, and Slack channels to complete an online survey eliciting demographic data, perspectives on support, and available support resources. The online survey consisted of 22 open- and closed-ended questions. Data were collected over a 5-week period. Open-ended responses were coded by thematic analysis and audited. The top three supports were as follows: (1) presence of other BIPOC students; (2) presence of BIPOC faculty; and (3) financial funding. Participants' individual definitions of support indicated that each student defined support in a unique way. Most participants defined understanding and empathy stemming from peers, supervisors, and faculty within the program setting as important aspects of overall support. The majority of participants felt somewhat or strongly supported in areas of training. The area with the least support was within rotation/fieldwork experiences. Programs should consider social- and program-level support combined with emotional support. Individualized support for every student is needed while avoiding assumptions about their identity and support needs. Training programs may consider a balance of efforts to prioritize recruiting more BIPOC faculty and students and providing the outlined support and funding resources for their students.

Creation and beta testing of a "choose your own adventure" digital simulation to reinforce motivational interviewing skills in genetic counseling.

Standardized patients and/or role-playing are commonly used for practicing genetic counseling (GC) skills. Use of digital simulation, incorporating gamification elements, would require fewer resources to sustain than standardized patients. This manuscript reports steps taken and the lessons learned from creating a digital "Choose your own adventure" simulation in which students select preferred dialog for a genetic counselor who is seeing an adult patient to discuss genetic testing for the known pathogenic variant that caused familial adenomatous polyposis (FAP) in their father. The case has three endings, one of which is attained by selecting options that are mostly consistent with motivational interviewing counseling techniques. We conducted a preliminary evaluation of our beta version among nine GC students and one educator using a survey to assess acceptability and appropriateness as well as to elicit open-ended feedback. All participants agreed or strongly agreed with statements indicating the case was acceptable, appropriate, and fun. Users particularly appreciated the immediate feedback given throughout the case simulation. Many users wanted more options to select from and listed various other recommendations, including several which would require substantial resources to implement.

Promoting the integration of genetic counseling education and research across the spectrum of learners at a large academic institution.

Genetic counselors are valuable members of research teams and are increasingly taking leadership roles in major research trials. While the field of genetic counseling has explored a doctoral degree several times, the terminal degree is still a master's level. Genetic counseling training programs provide research training, but many genetic counselors desire additional opportunities to develop expertise. To address the gaps in the availability of research training before and after obtaining genetic counseling degrees, we applied for and received a grant centered around three aims: (1) develop an undergraduate minor in genomics and human health with a research component, (2) promote a rigorous genetic counseling research program for training to practice genetic counselors, and (3) initiate a combined PhD program in Molecular, Cellular, Developmental Biology, and Genetics (MCDB&G) with a track in genetic counseling. We describe each of these components and early progress toward these aims. As each individual aim is bearing fruit, the next challenges are implementing more crossover between people in each aim and distilling the lessons learned to see if this program could be replicated at other sites.

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.

BACKGROUND: Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes. Currently, an updated summary of CH genetic etiologies in conjunction with clinical testing methodologies is lacking. This review addresses this need by generating a centralized survey of known genetic causes and available molecular tests for CH. METHODS: The scoping review protocol was registered with the Open Science Framework and followed the Arksey and O'Malley framework and the Joanna Briggs Institute methodology. The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) was utilized to define search guidelines and screening criteria. RESULTS: Our survey revealed a high number of genetic etiologies associated with CH, ranging from single gene variants to multifactorial birth defects, and additionally uncovered diagnostic challenges that are further complicated by changes in testing approaches over the years. Furthermore, we discovered that most of the existing literature consists of case reports, underscoring the need for studies that utilize CH patient research cohorts as well as more mechanistic studies. CONCLUSIONS: The pursuit of such studies will facilitate novel gene discovery while recognizing phenotypic complexity. Addressing these research gaps could ultimately inform evidence-based diagnostic guidelines to improve patient care.

Genetic counseling processes and strategies for racially and ethnically diverse populations: A systematic review.

Genetic counseling outcomes are influenced by the processes and strategies used by counselors, yet little is known about how these strategies directly impact patients and populations. In particular, tailoring genetic counseling consultations to best meet the needs of cultural, racial, and ethnically diverse populations has been explored. This review aims to identify genetic counseling strategies tailored for a diversity of racial and ethnic populations with the goal to find ways to improve genetic counseling outcomes. Medline, Cochrane CENTRAL, Embase, PsychInfo, and CINAHL databases were searched for original research articles published in English that employed genetic counseling processes and strategies to improve genetic counseling outcomes, specifically for participants from ethnically or racially diverse populations. A review of 5300 titles and abstracts resulted in the identification of 36 articles that met the inclusion criteria. Three themes emerged: (1) community involvement in culturally tailoring genetic counseling, (2) creation and use of culturally tailored resources, and (3) modifications to the genetic counseling process. The effectiveness of genetic counseling strategies could not be evaluated due to lack of consistent outcome measures in the articles. The involvement of diverse ethnic and racial populations in developing inclusive genetic counseling tools and practices will help the profession provide better patient care in the future. More research connecting genetic counseling processes and outcomes will help to assess how well these modified approaches meet the needs of diverse populations.

The development and preliminary evaluation of the Genetic Counseling Skills Checklist.

Genetic counseling (GC) relies on communication to help people understand and adapt to genetic contributions of disease, and there is need for a practical and reliable method of comprehensively documenting GC communication skills without intensive coding. To this end, we created a novel process measure called the Genetic Counseling Skills Checklist (GCSC), utilizing previously validated measures, communication/counseling frameworks, and prior research findings. A multistage iterative process was used to develop, evaluate, and modify the GCSC to improve its clarity, usability, and content validity. To assess interrater reliability, randomly assigned, untrained individuals (i.e., coders) used the GCSC version 3 to code multiple simulated GC sessions. Average measures intraclass correlation coefficients (ICCs) were calculated for each of the 8 GCSC process categories using one-way, random effects models. After relatively minor modifications to the GCSC, two pairs of experienced coders used GCSC version 4 to independently code additional GC sessions and Cohen's Kappa coefficients (κ) were calculated to assess interrater reliability for each process category. The GCSC contains five to eight items within each category and demonstrates good content validity given its ability to capture nearly all GC skills that genetic counselors reported using in a prior qualitative study. Interrater reliability of GCSC version 3 among coders with limited experience was moderate or good for 6 out of the 8 process categories as evidenced by ICCs ranging from 0.55 to 0.86. Average interrater reliability of GCSC version 4 among one pair of experienced coders was strong for all eight process categories (κ ranging from 0.82 to 0.94); among the second pair of experienced coders scores were strong for six categories (κ ranging from 0.80 to 0.87) and moderate for two categories (κ of 0.77 and 0.78). The results suggest the need for training and experience to assure adequate interrater reliability across GCSC coders. Future work is needed to create a formalized training program for coders, complete a larger study to further validate the measure, and use the GCSC to document variability in skills used across providers and sessions.

Medicare beneficiary barriers to genetic counselor services: Implications for patient policy, decision-making, and care.

If passed, the "Access to Genetic Counselor Services Act" will authorize genetic counselors to provide services under Medicare part B. We assert that Medicare policy should be updated through the enactment of this legislation to provide Medicare beneficiaries with direct access to genetic counselor services. In this article, we discuss the background, history, and some recent research relevant to patient access to genetic counselors to provide context and perspective regarding the rationale, justification, and potential results of the proposed legislation. We outline the potential impact of Medicare policy reform, including the effect on access to genetic counselors in high-demand areas or underserved communities. Although the proposed legislation pertains only to Medicare, we argue that private systems will also be impacted by passage as this may lead to an increase in hiring and retention of genetic counselors by health systems, thereby improving access to genetic counselors across the US.

A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia.

PURPOSE: Familial hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of approximately 1 in 250 individuals. If left untreated, FH greatly increases risk for cardiovascular disease and premature death. Currently, FH is largely underdiagnosed and interventions are needed to increase identification. The purpose of this study was to identify effective interventions aimed at increasing FH diagnosis. METHODS: A scoping review of the literature addressing interventions to increase FH detection was conducted. Included studies detailed interventions that increased screening and detection of FH globally. Studies were characterized by intervention type and analyzed for themes using the Consolidated Framework for Implementation Research. RESULTS: A total of 46 studies across 32 countries were included in the review. All studies were effective in increasing FH detection. In total, 12 different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions. CONCLUSION: Given the diversity of effective interventions identified in this review, future efforts could explore approaches that maximize identification through a combination of interventions. Our results support one such strategy that uses electronic medical records to screen for index cases and a 2-step indirect and direct contact method of index cases' relatives.

Application of motivational interviewing strategies with the extended parallel process model to improve risk communication for parents of children with familial hypercholesterolemia.

Current genetic counseling practice has not been found to significantly increase risk communication between family members. A more diverse set of genetic counseling approaches may be needed. A genetic counseling intervention based on motivational interviewing principles and the extended parallel process model was utilized to increase cascade outcomes within families with familial hypercholesterolemia, a common, underdiagnosed, and treatable condition. Parents of children with familial hypercholesterolemia were invited to participate in an online pre-survey, single-session genetic counseling intervention, and post-intervention surveys as a part of the CHEERS (Cholesterol Evaluation to Explore Risk Screening) intervention. This study investigated the efficacy of a genetic counselor delivered motivational interviewing intervention and how parents of children with familial hypercholesterolemia react by assessing family member cholesterol screening and risk communication to at-risk relatives. Transcripts were audio-recorded, transcribed, and analyzed for change talk using the Motivational Interviewing Skill Code version 2.1. Participant surveys were analyzed for self-reported extended parallel process constructs and motivations. Coincidence analysis was conducted to explore differences between those with and without positive cascade outcomes within 12 months after the intervention. On average, change talk increased during the session in order of the extended parallel process constructs (perceived severity, susceptibility, response efficacy, self-efficacy). Coincidence analysis revealed that 6 of the 7 cases with positive cascade outcomes were explained by either the presence of high change talk during the intervention or presence of positive motivations shortly after, while 5 of the 5 cases without a positive outcome lacked both of these key factors that were associated with cascade outcomes. Results of this study suggest that incorporating motivational interviewing and the extended parallel process model increases change talk and that the presence of either high levels of change talk or positive motivations is associated with positive cascade outcomes.

Revising the FOCUS framework through a qualitative study assessing self-reported counseling skills of genetic counselors.

Frameworks have been developed to help conceptualize clinical genetic counseling (GC), and observational studies have helped understand the process and content of GC sessions. However, additional research is needed to identify GC skills (behaviors or strategies) that practicing genetic counselors report consciously using to meet certain GC goals and determine what common terminology, if any, is being used to describe the various skills. Nineteen practicing genetic counselors in prenatal, pediatric, or cancer specialties were interviewed to elicit how they achieve session goals. Interview recordings were transcribed, coded thematically, and categorized using process categories from the communication strategy domain of the Framework for Outcomes in Clinical Communication Services (FOCUS). Reported skills largely fit within FOCUS, though findings prompted minor modifications of several FOCUS process categories and consolidation of the categories from 13 into 10. Although genetic counselor respondents reported a broad range of strategies and behaviors, they rarely had terms for skills they described. Results reveal concrete examples of GC skills, provide evidence for refinement of FOCUS, and highlight the need for establishing common terminology to describe these skills.

Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening.

Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost-effective identification method, requires FH patients to communicate with their at-risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior-change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post-intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η2  = 0.20), with the mean percent of at-risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open-ended nature of the goal-setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal-setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions.

Changes to the genetic counseling workforce as a result of the COVID-19 pandemic.

The COVID-19 pandemic has affected all aspects of our lives. The full impact of the pandemic is still unfolding and will take years to fully understand. This longitudinal study followed a sample of 189 genetic counselors from June to November of 2020, starting with an online retrospective baseline survey of pre-COVID-19 functioning and continuing with a monthly online survey (average retention = 89.2%) to assess changes in self-reported stress, employment status, billing practices, self-efficacy, and their use of telehealth. Participants were recruited from specific states representing geographic diversity with publicly available databases of contact information as well as social media. The sample was largely reflective of the professional demographics reported in the 2020 Professional Status Survey (PSS). Comparisons were made between the PSS, baseline assessment of pre-COVID-19 status, June, and November data. Genetic counselor workload did not significantly change in terms of hours worked from baseline to November, though patients served per week dropped initially before returning to pre-COVID-19 levels. Genetic counselors were increasingly working remotely and supervising students less frequently in November compared to pre-COVID-19 baseline. Approximately 50% of the sample were unable to bill for services throughout the study period, with billing practices not changing during this time. Approximately 40% experienced a negative employment change in June, which dropped to ~10% in November. Personal and family stress levels were elevated during the study period, while financial stress increased from baseline to June it returned to pre-COVID-19 levels by November. Self-efficacy for common genetic counseling skills decreased from baseline to June but returned to baseline levels by November. The results suggest the workforce faced transitions but has rebounded in most areas studied. The pandemic highlighted pre-existing billing issues, and the current billing structures were not able to shift in the face of practice transitions. The long-term implications of the pandemic remain to be seen, but the results indicate returns toward baseline data in most areas with the exceptions of supervision, personal and family stress, and billing.

Genetic counselor experiences with telehealth before and after COVID-19.

While genetic counselor (GC) utilization of telehealth has increased in recent years, the onset of the COVID-19 pandemic significantly accelerated the adoption of telehealth for many. We investigated GC experiences with telehealth including perceived advantages, disadvantages, and barriers using a one-time online survey of GCs who provided direct patient care in recent years. The survey examined experiences with telehealth before and after the onset of COVID-19. We made broad comparisons to findings from a similar study our research team conducted five years ago. GCs reported an increase in the utilization of telehealth over time, with significant increases from pre-2017 (44%) to pre-COVID-19 (70%) and then to present (87%) (p<.001 and .02, respectively). There was no significant change in the total number of hours worked from pre-COVID-19 to the time of survey completion, nor were there significant changes in the amount of time spent on clinical responsibilities or interfacing with patients. However, the total number of hours worked in telehealth significantly increased (z = 5.05, p<.001) as did the percent of time spent interacting with patients via telehealth [t(72)=3.74, p<.001, d = 0.44]. Participants overwhelmingly preferred video (84%) over telephone; this differs from our previous survey where video was the preferred modality for 59% (p<.001). We utilized open-ended questions to elicit reasons for modality preference. The most-cited barrier to telehealth utilization was billing/reimbursement issues, with 39% noting this obstacle. This is consistent with our previous study where 30% cited billing/reimbursement as the primary barrier. These findings indicate a need for continued efforts to improve billing and reimbursement for genetic counseling offered via telehealth. They also present an opportunity for additional exploration regarding patient preferences for telehealth modality.

Pharmacogenomics education, research and clinical implementation in the state of Minnesota.

Several healthcare organizations across Minnesota have developed formal pharmacogenomic (PGx) clinical programs to increase drug safety and effectiveness. Healthcare professional and student education is strong and there are multiple opportunities in the state for learners to gain workforce skills and develop advanced competency in PGx. Implementation planning is occurring at several organizations and others have incorporated structured utilization of PGx into routine workflows. Laboratory-based and translational PGx research in Minnesota has driven important discoveries in several therapeutic areas. This article reviews the state of PGx activities in Minnesota including educational programs, research, national consortia involvement, technology, clinical implementation and utilization and reimbursement, and outlines the challenges and opportunities in equitable implementation of these advances.