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.