Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4-71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1-5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.

Identifying potential LGBTQIA+ competencies for genetic counseling student training.

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