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. WHAT THIS PAPER ADDS: Parents had varied views about receiving prognostic information on their children's neurodevelopmental condition. Some parents preferred prognostic uncertainty about their children's genetic neurodevelopmental condition.

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.

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.

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set.

PURPOSE: Current practice recommendations support the widespread implementation of reproductive genetic carrier screening (RGCS). These consensus-based recommendations highlight a research gap, with findings from current studies being insufficient to meet the standard required for more rigorous evidence-based recommendations. This systematic review assessed methodological aspects of studies on RGCS to inform the need for a core outcome set. METHODS: We conducted a systematic search to identify peer-reviewed published studies offering population-based RGCS. Study designs, outcomes, and measurement methods were extracted. A narrative synthesis was conducting using an existing outcome taxonomy and criteria used in the evaluation of genetic screening programs as frameworks. RESULTS: Sixty-five publications were included. We extracted 120 outcomes representing 24 outcome domains. Heterogeneity in outcome selection, measurement methods and time points of assessment was extensive. Quality appraisal raised concerns for bias. We found that reported outcomes had limited applicability to criteria used to evaluate genetic screening programs. CONCLUSION: Despite a large body of literature, diverse approaches to research have limited the conclusions that can be cumulatively drawn from this body of evidence. Consensus regarding meaningful outcomes for evaluation of RGCS would be a valuable first step in working towards evidence-based practice recommendations, supporting the development of a core outcome set.

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.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients' and relatives' experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.

Adapting to the challenges of the global pandemic on genetic counselor education: Evaluating students' satisfaction with virtual clinical experiences.

Travel restrictions, physical distancing, and limits to clinical placements due to the global pandemic raised enormous challenges for genetic counseling education in 2020. In response, we created authentic virtual clinical experiences in our Master of Genetic Counseling program, mimicking clinical practice: virtual simulation with standardized clients, and virtual clinical placements, including intake calls, triage, consultations, teamwork and time management, and genetic counseling with standardized clients. The virtual clinical experiences involved online pre-brief, simulation, and debrief. We aimed to evaluate students' satisfaction with this learning method. Between April and November 2020, we distributed an anonymous online survey to all participating students using a modified version of a validated satisfaction with simulation scale. We analyzed the combined responses from first- and second-year virtual clinical experiences using descriptive statistics and content analysis. The total number of possible responses was 120. The mean response rate was 68.36% (n = 82.03), with a mean of 16.41 participants responding to each survey from each year group. Of the first-year participants, 53% (n = 10) had not observed a genetic counseling consultation before attending the virtual clinical placement. Overall, 92.5% of responses indicated that students were satisfied with the virtual clinical experiences (SD = 0.05). 100% (n = 82) of responses indicated that working with standardized clients was beneficial to learning, encouraged reflection on clinical ability and was a valuable learning experience overall. However, 37.78% (n = 17) of those who participated in the virtual simulation found that the use of Zoom detracted from their clinical learning. The virtual clinical experiences increased first-year students' confidence about clinical placement and prepared second-year students for telehealth. In conclusion, the adaptation to virtual clinical experiences enhanced learning for most students, prepared them for practice, met the requirements of the accreditation body and enabled all of our final year students to graduate on time.

Who we are, what we do, and how we add value: The role of the genetic counseling 'philosophy of practice' statement in a changing time.

As genetics and genomics are integrated into health care and non-genetic health professionals deliver aspects of genetic counseling, it is increasingly important for genetic counselors to be able to define who we are, what we do, and how we add value to client interactions, both on an individual and professional basis. In this paper, we argue that to understand ourselves as individual practitioners and as a profession, we each need to reflect on, write, and constantly review our own philosophy of practice. A philosophy of practice is a dynamic, personal, and reflective statement or narrative that captures the core ideas, values, and beliefs of the individual about their chosen profession, including concrete examples of what this involves in practice. Here, we consider the nature, purpose, and relevance of a philosophy of genetic counseling practice, drawing on examples from professions such as teaching and nursing, where the exercise of writing a philosophy of practice is more established. We demonstrate how and why we have introduced writing a philosophy of practice into our Master of Genetic Counseling program at University of Technology Sydney and consider the possibilities for introducing such practice into professional registration or certification processes. Finally, we offer our own philosophy of genetic counseling practice as an example. As the roles and scope of practice for genetic counselors expand and diversify, it is increasingly important to understand, own, and retain our core values and principles as individual practitioners and as a profession. Ensuring client-centered practice remains at the heart of genetic health care is vital. We encourage all genetic counselors to write, publish, and share their philosophy of practice, adding to our collective professional identity in this time of change and opportunity.

Preparing the genetic counseling workforce for the future in Australasia.

Current genetic counseling students will graduate into a workforce involving more opportunities, diversity, and uncertainty than any previous generation. Preparing the future genetic counseling workforce is a dynamic challenge, both for the profession and for educators. The dominance of the medical model in the state funded Australian healthcare system creates a power imbalance between doctors and other health professionals. As a result, professional regulation to protect the public from harm in line with the United States, the UK, and Canada only became mandatory in 2019. Professional regulation has the additional benefit of enhancing professional standing and autonomy, enabling genetic counselors to help shape the future of genetic health care in Australia and New Zealand. Within this rapidly evolving environment, we are establishing a new Masters' program and building a discipline of genetic counseling, working alongside other allied health professionals. Our program involves synchronous and asynchronous learning, greater accessibility, flexibility and, as we have learned in 2020, reduction in disruption during a global pandemic. In this program, we foreground the inherent knowledge, skills, and values of genetic counseling, shifting the focus from provision of genetic and genomic tests, to educating competent, person-centered, research enabled and culturally safe genetic counselors. As educators, we have a responsibility to prepare students to embrace the uncertainties, challenges, and potential of the genomic era, to seize the many possibilities that lie ahead, and to expand their thinking and vision. We ask our students to be courageous, to step into a deep exploration of their own identity, beliefs, understanding, and experiences of oppression, power, and privilege. We are pushing boundaries, and challenging ourselves and our students to remain always open to possibilities. Equipping students with open eyes and listening ears may be the single most important thing we can do to prepare the genetic counseling workforce of the future to provide the best possible care.

Professional regulation for Australasian genetic counselors.

As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Australasia (HGSA), a working party was convened. The purpose of the working party was to provide strategic leadership for the profession of Australasian genetic counselors with a goal to formalize a national regulatory framework for genetic counselors across both Australian and New Zealand jurisdictions. This was ultimately achieved in Australia through full membership with the National Alliance of Self-Regulating Health Professions (NASRHP) while the profession of genetic counseling in New Zealand is utilizing this framework to establish their regulation pathway. Regulation has a number of implications for genetic counselors, their employers, and the wider community, with the primary purpose of regulation being protection of the public from harm. This paper details the process of formalizing self-regulation for genetic counselors in Australasia, by defining professional regulation; outlining the purpose of regulation and the status of regulation for genetic counselors in Australasia and internationally, as well as health professionals more broadly; exploring the challenges of establishing regulation in Australasia; and the next steps for regulation in Australasia. Through detailing this process, the intention is to provide a framework to support genetic counseling colleagues internationally as well as other health professions in Australasia to explore and achieve regulation through their respective jurisdiction.

Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

Family communication about genetic information enables informed medical and reproductive decision-making. The literature suggests that a significant proportion of genetically at-risk family members remain uninformed about genetic risk information as a result of non-disclosure. This study explored the experiences of New Zealand families communicating about a diagnosis of type 1 myotonic dystrophy (DM1). Eligible individuals were identified and recruited from the New Zealand (NZ) MD Prev study, a nationwide study which aimed to determine the prevalence, impact, and costs of genetic muscle disorders across the lifespan. Twelve qualitative semi-structured interviews were conducted with 17 participants. The findings demonstrate diversity among and within families, with several distinct family narratives described. Most participants reported a motivation to tell relatives about their diagnosis to promote autonomy. Women were pivotal throughout communication processes and this was often tied to the concept of maternal responsibility and a desire to promote relatives' reproductive autonomy. The diagnosis of DM1 and the subsequent family communication decisions altered relationships for many, with both positive and negative impacts described. The findings demonstrate that individuals require time to explore the impact of a diagnosis of DM1 on self, family and intimate partner relationships to anticipate unique communication challenges. Genetic counselors can use these findings to inform their approach to counseling families with DM1. Longitudinal genetic counseling may be beneficial as a way to provide individuals with life stage specific support as they communicate with their relatives about a diagnosis of DM1.

Genetic Counsellors and Private Practice: Professional Turbulence and Common Values.

Genetic counsellors face tensions between past and future identities: between established values and goals, and a broadening scope of settings and activities. This study examines the advent of genetic counsellors in private practice in Australia and New Zealand from the perspectives of the small numbers working in this sector and those who have only worked in public practice. Semi-structured interviews were conducted with 16 genetic counsellors who had experience in private practice, and 14 genetic counsellors without private sector experience. Results demonstrated that circumstantial and personal factors can mitigate the challenges experienced and the amount of support desired by those who had established a private practice, and those who were employed by private companies. Notably, most participants with private sector experience perceived themselves to be viewed negatively by other genetic counsellors. Most participants without private sector experience expressed concern that the challenges they believed genetic counsellors face in private practice may impact service quality, but wished to address such concerns by providing appropriate support. Together, our results reinforce that participants in private and public sectors are strong advocates for peer support, multidisciplinary team work, and professional development. These core values, and seeking understanding of different circumstances and support needs, will enable genetic counsellors in different sectors to move forward together. Our results suggest supports that may be acted upon by members of the profession, professional groups, and training programs, in Australia, New Zealand, and overseas.

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.

BACKGROUND: Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. In the era of genomic medicine, expanded genetic screening may be offered to donors for the purpose of avoiding transmission of harmful genetic mutations. The objective of this study was to explore the attitudes of donors and recipients toward the expanded genetic screening of donors. METHODS: Qualitative interview study with thematic analysis, undertaken in a tertiary fertility centre. Semi-structured in-depth qualitative interviews were conducted with eleven recipients and nine donors from three different cohorts (sperm, egg and embryo donors/recipients). RESULTS: Donors and recipients acknowledged the importance of genetic information and were comfortable with the existing level of genetic screening of donors. Recipients recognised some potential benefits of expanded genetic screening of donors; however both recipients and donors were apprehensive about extended genomic technologies, with concerns about how this information would be used and the ethics of genetic selectivity. CONCLUSION: Participants in donor programs support some level of genetic screening of donors, but are wary of expanding genetic screening beyond current levels.

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.

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.

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.