Embedding simulation in genetic counselor education from the first week of training: Learning outcomes, standardized clients, and students' satisfaction.

Health professional educators routinely utilize simulation to prepare students for practice. However, there is little evidence to show whether simulation enhances learning for genetic counseling students. This study aimed to (i) develop simulation learning outcomes and standardized clients for genetic counselor student education and (ii) evaluate students' experiences of learning from face-to-face and virtual simulation in the first week of training in an Australasian master of genetic counseling program. Using the principles of co-design, eight experienced genetic counselors from across Australasia attended an online discussion and one-to-one meetings to develop simulation learning outcomes and build detailed authentic standardized clients. Six learning outcomes were identified: establishing an effective counseling relationship, eliciting information, assessing need, delivering difficult news and helping clients cope with complex emotions, effective communication and facilitating adaptation. Standardized clients were mapped to the learning outcomes and other requirements of the program. Between 2019 and 2022, 106 first year students participated in face-to-face or virtual simulation workshops with two standardized clients on Day 5 of their training. Following the experience, 103 students completed an anonymous survey using a modified version of a validated satisfaction with simulation scale (n = 49 face-to-face in 2019 and 2020 and n = 54 virtual in 2021 and 2022). Responses were analyzed using descriptive statistics and content analysis. Mean satisfaction overall was 95.9% (SD 3.5), 96.2 (SD 4.0) face-to-face, and 95.8 (SD 3.7) virtual. Overall, responses indicated that simulation-based learning and working with standardized clients was a valuable learning experience (100%), developed communication skills and created a sense of reality (99%). For a minority of participants (n = 4), the simulation was too challenging. Key learning related to consolidation of counseling skills, reflective practice, and preparation for clinical placement. In conclusion, exposing novice student genetic counselors to authentic clinical scenarios using standardized clients in face-to-face or virtual classrooms enhanced clinical learning.

Race, ethnicity, and ancestry reporting in genetic counseling research: A focused mapping review and synthesis.

Studies on the use of Race, Ethnicity, and Ancestry (REA) concepts and terms in genetic research are limited. We aimed to describe the collection, reporting, and use of REA data in genetic counseling research. We undertook a focused mapping review and synthesis of the Journal of Genetic Counseling 2021 publications. We used a mapping proforma based on the Race, Ethnicity, And Culture in Health checklist to extract data. Of the 177 screened articles, 132 met our inclusion criteria of reporting primary data about participants. The sample REA characteristics were described in 80 (61%) articles, with 6% providing a definition or conceptualization of the REA term/s used and 23% including a rationale for their study in terms of REA factors. Group labels were most often reported using population descriptors, such as "race," "ethnicity," "race/ethnicity," and "ancestry." Several group labels were used under different population descriptors. For instance, the group labels "White" and "Asian" were used under all population descriptors. Most studies (79%) ascertained REA characteristics by participants' self-report. Three (15%) of the 20 qualitative studies mentioned the relevance of the interviewers' REA characteristics in relation to the participants' REA characteristics. Of the 55 quantitative studies, 19 (35%) used REA factors in the data analysis. Of the 80 articles describing the sample REA characteristics, 20% referred moderately or a great deal to any REA factors in the results interpretation, 46% acknowledged the REA factors in the study limitations, and 15% discussed the implications of REA reporting for genetic counseling practice. Our review documents extensive variation in how sample REA characteristics are described and used in genetic counseling research. Our findings provide a baseline against which to evaluate the effects of guidelines and recommendations for the collection, responsible use, and report of participants' REA characteristics in genetic counseling research.

A survey of genetic and palliative care health professionals' views of integrating genetics into palliative care.

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators. The main perceived barrier to both groups was palliative care health professionals' lack of genetic knowledge (44%). Most palliative care health professionals were 'not at all confident' performing several activities, including discussing DNA banking (52%) and knowing their legal responsibilities when sharing genetic information (58%). The most frequently selected facilitator for genetic health professionals was fostering close relationships with palliative care health professionals (52%), while palliative care health professionals indicated a genetic referral template (51%) would be of assistance. Almost all participants agreed genetic discussions do not undermine the central ethos of palliative care (87%). Fewer palliative care health professionals considered themselves well situated to have genetic discussions with a palliative patient's family compared to genetic health professionals (p = 0.014). Our results suggest that genetic and palliative care health professionals support integrating genetics into palliative care, although refinement of the palliative care health professionals' role in this process is required. We have identified intervention targets to overcome barriers related to knowledge and confidence, which ought to be integrated into future interventions designed to support health professionals deliver the benefits of genetic information to people with palliative care needs and their families.

Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.

AIM: To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results. METHOD: We used a cross-sectional, interpretive description qualitative study design. We collected data through semi-structured interviews with Australian parents, which we analysed using reflexive thematic analysis. RESULTS: Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and stigmatizing societal views were also discussed. INTERPRETATION: Parents had mixed preferences and motivations for acquiring prognostic genetic information about their child, contrasting evidence in other contexts such as cancer where parents typically have minimal tolerance of uncertainty. Health professionals should consider strength-based framing of prognostic information gained from current and emerging technologies when returning results to families.

Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders.

OBJECTIVE: Understanding the value, benefits and harms of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. Such value is demonstrated through the assessment of outcomes; however, which outcomes are assessed is often highly varied across studies and can hinder the ability to draw robust conclusions. The Core Outcome Development for Carrier Screening study aims to understand the outcomes that can meaningfully capture the value of reproductive genetic carrier screening (RGCS). METHOD: The authors report an iterative, two-round online Delphi survey of Australian and New Zealand stakeholders to determine the degree of consensus regarding the core outcomes of RGCS. Panellists ranked 83 outcomes according to their perceived importance on a nine-point Likert scale. Using the distribution of rankings, outcomes were grouped into tiers representative of their perceived level of importance and agreement between groups. RESULTS: The top tier outcomes represent those agreed to be critically important for all future studies of RGCS to assess and were used to define a preliminary core outcome set encompassing the domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use and, (4) perceived utility of RGCS. CONCLUSION: These findings can guide the selection of meaningful outcomes in studies aiming to demonstrate the value of RGCS. A future international consensus process will expand on these findings and guide the inclusion of diverse perspectives across the range of settings in which RGCS is offered.

Special Issue: "Genetic Counseling and Genetic Testing in Precision Medicine".

Progress in genomic technologies has spurred innovation in healthcare and medicine, contributing to improved health and well-being [...].

(In)visibility of LGBTQIA+ people and relationships in healthcare: A scoping review.

OBJECTIVE: To identify and map research into the visibility of LGBTQIA+ people and their relationships in healthcare, with the view to inform future research and practice. METHOD: Five databases were systematically searched for published and grey literature. Primary research reporting on visibility of LGBTQIA+ people in healthcare was included. Two reviewers independently screened the studies until an acceptable level of agreement was reached. A narrative synthesis was conducted and findings mapped to a taxonomy of microaggressions involving three sub-categories: microinsults, microassaults and microinvalidations. RESULTS: The microaggressions identified included Microinsults: 'Perception of health professionals' knowledge and comfort' and 'Disclosure'; Microassaults: 'Discrimination and stigma'; Microvalidations: 'Accessing and navigating through services', 'Encounters of assumptions and stereotypes', 'Validating identities and including relationships', and 'Reading the environment'. CONCLUSION: Despite growing societal acceptance, microaggressions still exist within healthcare. Groups within LGBTQIA+ communities have varying levels of visibility in research and healthcare based on the studies included. PRACTICE IMPLICATIONS: The limited visibility of LGBT and lack of visibility of QIA+ people and their relationships in healthcare highlight the need to include the views of all LGBTQIA+ communities in research, and to ensure health professionals and clinical services are equipped to address this (in)visibility gap.

Free Online Decision Tools to Support Parents Making Decisions About Their Children's Chronic Health Condition: An Environmental Scan.

BACKGROUND: Medical decisions parents make on their children's behalf can be challenging. Free online decision support tools are created to help parents faced with these decisions. OBJECTIVE: We used an environmental scan to identify free, online tools that support parents in making decisions about their children's chronic health condition. We described the tools and assessed their potential to harm, content, development process, readability, and whether their use changed decision makers' knowledge and alignment of their preferences with their final decision. DATA SOURCES AND ELIGIBILITY: Decision aid repositories, Google searches, and key informants identified decision support tools. Eligible tools were freely available online and for parents of children with chronic health conditions. APPRAISAL METHODS: Two reviewers independently assessed the tools' quality based on the International Patient Decision Aid Standards (IPDAS). Tool readability was assessed using the Flesch Reading Ease test. RESULTS: From 21 free, online decision support tools, 14 (67%) provided sufficient detail for making a specific decision (IPDAS qualifying criteria). None sufficiently met IPDAS certification criteria necessary to reduce the possibility of patient harms when using the tool. Three (14%) were fairly easy or easy to read. Of those evaluated by developers (n = 6), 2 improved knowledge and 4 improved alignment of preferences with the available options. LIMITATIONS: Google searches and key informant sources are not replicable. CONCLUSIONS: Free, online decision support tools for parents of children with chronic health conditions are of variable quality, most are difficult to read, and there is limited evidence their use achieves intended outcomes. REGISTRATION NUMBER: Registered with Open Science Framework 20 July 2021(AEST) osf.io/b94yj.

Young-onset dementia: A systematic review of the psychological and social impact on relatives.

OBJECTIVE: Young-onset dementia (YOD) has significant impact for the affected person, but also has far-reaching effects on the family. Additionally, biological relatives have an increased genetic risk of developing the condition themselves. This review aimed to identify the psychological and social impacts of YOD in the family, for asymptomatic relatives. METHODS: A systematic review of key databases for empirical studies about the lived experience of biological relatives at risk for YOD was performed. Data was collated and interpreted via narrative synthesis. RESULTS: The majority of the nineteen included studies were qualitative and explored the experiences of children with a parent with YOD. Five themes were developed: (1) Onset of YOD disrupts family functioning (2) Emotional impact is significant and varied (3) Uncertain future (due to uncertainty of diagnosis, care-giving responsibilities, and their own increased genetic risk) (4) Lack of visibility in health care and society (5) Coping strategies include physical/cognitive distancing, and emotion-focused coping. CONCLUSION: Our findings demonstrate a diagnosis of YOD significantly impacts the lives of relatives, yet their experiences and needs often go unnoticed. PRACTICE IMPLICATIONS: We present a practical framework of questions and strategies for care of relatives, mapped to the self-regulation model of genetic counselling.

Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.

There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or included patients in the selection of outcomes that are meaningful to them. This study was a cross-sectional, qualitative study of 15 patient participants conducted to inform a core outcome set. A core outcome set is an approach to facilitate standardisation in outcome reporting, allowing direct comparison of outcomes across studies to enhance understanding of impacts and potential harms. The aim of this study was to incorporate the patient perspective in the development of a core outcome set by eliciting a detailed understanding of outcomes of importance to patients. Data were collected via online, semi-structured interviews using a novel method informed by co-design and the nominal group technique. Data were analysed using reflexive thematic analysis. Outcomes elicited from patient stakeholder interviews highlighted several under-explored areas for future research. This includes the role of grief and loss in increased risk couples, the role of empowerment in conceptualising the utility of RGCS, the impact of societal context and barriers that contribute to negative experiences, and the role of genetic counselling in ensuring that information needs are met and informed choice facilitated as RGCS becomes increasingly routine. Future research should focus on incorporating outcomes that accurately reflect patient needs and experience.

Stuttering, family history and counselling: A contemporary database.

BACKGROUND: Information about genetic influence is useful to when counselling parents or caregivers who have infants and children at risk for stuttering. Yet, the most comprehensive family aggregate database to inform that counselling is nearly four decades old (Andrews et al., 1983). Consequently, the present study was designed to provide a contemporary exploration of the relationship between stuttering and family history. METHODS: Data were sourced from the Australian Stuttering Research Centre, comprising 739 participants who presented for assessment, treatment, or investigation of stuttering. Reported family history data were acquired from pedigrees collected during assessment. We sought to establish the relation of the following variables to family history of stuttering: incidence, proband sex, parent sex, stuttering severity, age, reported age of stuttering onset, and impact of stuttering. Data were analysed with chi-square tests for independence, logistic and linear regression models. RESULTS: Results were broadly consistent with existing data, but the following findings were novel. Males and females who stutter have the same increased odds of having a father who stutters relative to a mother who stutters. Males had later stuttering onset than females, with genetic involvement in this effect. There was a greater impact of stuttering for females than males with a family history of stuttering. CONCLUSION: These findings have clinical applications. Speech-language pathologists may have infant or child clients known to them who are at risk of beginning to stutter. Information from the present study can be applied to counselling parents or caregivers of such children about stuttering and family history.

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences.

Genetic counseling and diagnostic genetic testing is part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS, commonly called motor neurone disease, MND) and frontotemporal dementia (FTD). We explored client experiences of genetic counseling and diagnostic testing to inform the care of future families. Semi-structured interviews with individuals with ALS/MND/FTD or their relatives were conducted. The study was designed to include a wide variety of participants with varying disease status and abilities. Genetic counseling and diagnostic testing experiences were explored using interpretive description methodology. Bioecological theory was used as the framework for the reflexive thematic analysis. Eighteen individuals with ALS/MND/FTD or their relatives from 13 Australian families participated. Three themes were identified: sharing knowledge, (un)supportive care, and 'circumstance is everything'. Consistent with bioecological theory, one's genetic counseling experience was informed by individual circumstances, time, and proximal factors. These informed the level of information and support required in the genetic counseling process. Although some client circumstances cannot be changed, efforts could be made to enhance genetic counseling experiences by improving interactions between the client and their care team. Some clients may benefit from further discussions regarding the familial implications of genetic testing, and greater support with family communication. Clients' needs were derived from the data and will contribute to genetic counseling consensus guidelines.

Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia.

Objective: Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We aimed to investigate the ideal components of genetic counseling for ALS/FTD diagnostic testing amongst various stakeholders using an online, modified Delphi survey. Methods: Experts in genetic counseling and testing for ALS/FTD were purposively then snowball recruited and included genetic health professionals, health professionals outside of genetics and consumer experts (patients, relatives, and staff representatives from ALS/FTD support organizations). First-round items were informed by two systematic literature reviews and qualitative interviews with patients and families who had experienced diagnostic testing. Analysis of each round informed the development of the subsequent round and the final results. Results: Forty-six experts participated in the study, 95.65% completed both rounds. After round one, items were updated based on participant responses and were presented again for consensus in round two. After round two, a high level of consensus (≥80% agreement) was achieved on 16 items covering various topics related to genetic counseling service delivery, before and after diagnostic testing is facilitated. Conclusions: Genetic counseling for individuals with ALS/FTD and their families should include the provision of client-centered counseling, education and support throughout. The items developed are adaptable to varied healthcare settings and may inform a standard of genetic counseling practice for health professionals who facilitate testing and counseling discussions. This area of work is timely, given demand for testing is likely to increase as more genotype-driven clinical trials become available.

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

There is currently no consensus on the key outcomes of reproductive genetic carrier screening (RGCS). This has led to a large amount of variability in approaches to research, limiting direct comparison and synthesis of findings. In a recently published systematic review of quantitative studies on RGCS, we found that few studies incorporated patient-reported outcomes. In response to this gap, we conducted a sequential systematic review of qualitative studies to identify outcomes exploring the patient experience of RGCS. In conjunction with the review of quantitative studies, these outcomes will be used to inform the development of a core outcome set. Text excerpts relevant to outcomes, including quotes and themes, were extracted verbatim and deductively coded as outcomes. We conducted a narrative synthesis to group outcomes within domains previously defined in our review of quantitative studies, and identify any new domains that were unique to qualitative studies. Seventy-eight outcomes were derived from qualitative studies and grouped into 19 outcome domains. Three new outcome domains were identified; 'goals of pre- and post-test genetic counselling', 'acceptability of further testing and alternative reproductive options', and 'perceived utility of RGCS'. The identification of outcome domains that were not identified in quantitative studies indicates that outcomes reflecting the patient perspective may be under-represented in the quantitative literature on this topic. Further work should focus on ensuring that outcomes reflect the real world needs and concerns of patients in order to maximise translation of research findings into clinical practice.

Genetic and genomic learning needs of oncologists and oncology nurses in the era of precision medicine: a scoping review.

Genetic and genomic data are increasingly guiding clinical care for cancer patients. To meet the growing demand for precision medicine, patient-facing oncology staff will be a part of leading the provision of genomic testing. A scoping review was undertaken to identify the range of genetic and genomic learning needs of oncologists and oncology nurses. Learning needs were reported relating to interpretation of genomic data, clinical decision-making, patient communication and counseling, and fundamentals of genetics and genomics. There was a lack of empirical research specific to oncology nurses and their learning needs in tumor sequencing. Our findings suggest that oncologists and oncology nurses need tailored support, education and training to improve their confidence and skills in adopting genomic testing into clinical practice.

Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

OBJECTIVE: To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support. METHODS: Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421). RESULTS: Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington's disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling. CONCLUSION: Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice.