A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.

In this paper we describe the analysis, planning, design, development, implementation and evaluation of a new online Graduate Certificate in Genomic Counselling and Variant Interpretation (GCGCVI) at The University of British Columbia (UBC). Genetic counselling is now a prerequisite for diagnostic genomic testing in many countries, demanding that genetic counselling practitioners have up-to-the-moment genomic counselling skills and knowledge. Current practitioners reported a desire for more training in this rapidly developing field: our international survey revealed substantial interest in online continuing education addressing themes such as testing and clinical bioinformatics, applied variant interpretation, evidence-based genomic counselling, and other emerging genomic topics. However, our market analysis found no post-graduate program globally that offered such training. To fill this gap, our oversight team of genetic counsellors and geneticists therefore guided development of curriculum and materials, and online learning specialists developed rigorous interactive asynchronous online graduate courses through collaboration with subject matter experts, following best practices in online learning design. Since launch in September 2020, we have gathered learner feedback using surveys and focus groups, and we have used learning analytics to understand how learners engaged with each other and with course materials. Together, these have helped us understand learner behaviour and guide the continuous process of design improvement to support the learning goals of this audience of professional learners. Our courses have been reviewed and approved by the UBC Faculty of Medicine, UBC Senate, and the Province of British Columbia Ministries of Advanced Education and Health, and assessed by the National Society of Genetic Counselors (NSGC, USA) and the Canadian Association of Genetic Counsellors (CAGC) to enable learners to receive North American continuing education credits. To date, 151 individuals from 18 countries have succeeded in one or more course and 43 have completed the entire certificate.

Indigenous Peoples and genomics: Starting a conversation.

Compared to European ancestral groups, Indigenous Canadians are more likely to have uninterpretable genome-wide sequencing results due to non-representation in reference databases. We began a conversation with Indigenous Canadians to raise awareness and give voice to this issue. We co-created a video explaining genomic non-representation that included diverse Indigenous view-points. We audio-recorded the focus groups including 30 First Nations, Métis, and Inuit individuals living in Greater Vancouver. After watching an introductory video explaining genomic testing, participants discussed issues surrounding collecting Indigenous genomic data, its control, and usage. Transcripts were analyzed, and participants' quotes representing main themes were incorporated into the introductory video. Indigenous participants discussed data interpretation and gave approval for quote usage. The 20 participants who provided feedback concurred with the thematic interpretation: Systemic racism interlaced most conversations, particularly within the theme of trust. Themes of governance emphasized privacy and fear of discrimination. Some participants thought a separate, Indigenous-controlled database was essential; others recognized advantages of international databases. The theme of implementation included creative ideas to collect Indigenous genomes, but prior approval from Indigenous leaders was emphasized. The final video (https://youtu.be/-wivIBDjoi8) was shared with participants to use as they wish to promote awareness and ongoing discussion of genomic diagnostic inequity.

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors.

Shared decision-making (SDM) is a collaborative approach in which clinicians educate, support, and guide patients as they make informed, value-congruent decisions. SDM improves patients' health-related outcomes through increasing knowledge, reducing decisional conflict, and enhancing experience of care. We measured SDM in genetic counselling appointments with 27 pregnant women who were at increased risk to have a baby with a genetic abnormality. The eight experienced genetic counsellors who participated had no specific SDM training and were unaware that SDM was being assessed. Audio transcripts of appointments were scored using 'Observing Patient Involvement in Decision Making' (OPTION12). Patients' anxiety and decisional conflict were also assessed. The genetic counsellors' mean OPTION12 score was 42.4% (SD 9.0%; possible range 0-100%). Specific SDM behaviours that scored highest included introducing the concept of equipoise and listing all options with their pros and cons. Behaviours that scored lowest included eliciting patients' preferred approach to receiving information and desired degree of involvement in decision-making. Patients' levels of anxiety and decisional conflict were unassociated with genetic counsellors' OPTION12 scores. Some SDM behaviours were better demonstrated in this prenatal genetic counselling study than others. Formal training of genetic counsellors in SDM may enhance use of this approach in their professional practice.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

Clinical use of genome-wide sequencing (GWS) requires pre-test genetic counseling, but the availability of genetic counseling is limited. We developed an interactive online decision-support tool, DECIDE, to make genetic counseling, patient education, and decision support more readily available. We performed a non-inferiority trial comparing DECIDE to standard genetic counseling to assess the clinical value of DECIDE for pre-GWS counseling. One hundred and six parents considering GWS for their children with epilepsy were randomized to conventional genetic counseling or DECIDE. Following the intervention, we measured parents' knowledge and empowerment and asked their opinions about using DECIDE. Both DECIDE and conventional genetic counseling significantly increased parents' knowledge, with no difference between groups. Empowerment also increased but by less than 2% in each group. Parents liked using DECIDE and found it useful; 81% would recommend it to others; 49% wished to use it along with a genetic counselor; 26% of parents preferred to see a genetic counselor; 7% preferred DECIDE alone; and 18% had no preference. DECIDE appears equivalent to genetic counseling at conveying information. In addition, it was highly acceptable to the majority of study participants, many of whom indicated that it was useful to their decision-making. Use of DECIDE as a pre-test tool may extend genetic counseling resources.

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

PURPOSE: The purpose of this study was to explore parents' perceptions of their decisional needs when considering genome-wide sequencing (GWS) for their child. This is a partial report and focuses on how parents prefer to receive education and information to support their decision making about GWS. DESIGN: This study adopted an interpretive description qualitative methodological approach and used the concept of shared decision making and the Ottawa Decision Support Framework. METHODS: Participants were parents who had already consented to GWS, and had children with undiagnosed conditions that were suspected to be genetic in origin. Fifteen parents participated in a focus group or individual interview. Transcriptions were analyzed concurrently with data collection, iteratively, and constantly compared to one another. Repeat interviews were conducted with five of the parents to confirm, challenge, or expand on the developing concepts. FINDINGS: Participants felt that their decision to proceed with GWS for their child was an easy one. However, they expressed some unresolved decisional needs, including a lack of knowledge about certain topics that became relevant and important to them later and a need for more support and resources. Participants also had ongoing informational and psychosocial needs after the single clinical encounter where their decision making occurred. CONCLUSIONS: Participants expressed unmet decisional needs, which may have influenced the quality of their decisions. The strategies that participants suggested may help create parent-tailored education, counseling, decision support, and informed consent processes. CLINICAL RELEVANCE: Health care professionals who offer GWS for children should assess parents' values, priorities, and informational needs and tailor information accordingly. There are opportunities for nurses to become involved in supporting families who are considering GWS for their child.

Comparing the ability of OPTION(12) and OPTION(5) to assess shared decision-making in genetic counselling.

OBJECTIVES: OPTION(12) is the most widely used tool to measure shared decision-making (SDM) in health care. A newer scale, OPTION(5), has been proposed as a more parsimonious measure that better addresses core concepts of SDM. This study compares OPTION(5) to OPTION(12) in prenatal genetic counselling. METHODS: Two raters independently used OPTION(12) and OPTION(5) to score 27 clinical encounters between genetic counsellors (GC) and women with pregnancies at increased risk for genetic conditions. Global and item scores on the two instruments were compared to test concurrent validity and to identify usability in this context. Inter-rater reliability was also assessed for both instruments. RESULTS: Mean scores for OPTION(12) were 43.8 (SD=9.7), and for OPTION(5) were=60.6 (SD=12.5). The correlation between OPTION(12) and OPTION(5) scores was r=0.70. Inter-rater reliability was 0.70 and 0.85 for OPTION(12) and OPTION(5) respectively, however mean inter-rater reliability for individual items was 0.31 and 0.63 for OPTION(12) and OPTION(5) respectively. CONCLUSIONS: GCs exhibit SDM as measured by both OPTION instruments. OPTION(5) exhibits improved psychometric performance relative to OPTION(12), and more specifically targets the core constructs of SDM. However, refinement of OPTION instruments or manuals is needed to improve reliability and validity in GC assessment.

Costs of caring for children with an intellectual developmental disorder.

BACKGROUND: Caring for a child with intellectual developmental disorder (IDD) is expensive for the medical system, for the family, and for society in general. Whereas the health care costs of IDD have been described, the societal and parental costs of IDD have been less well documented. OBJECTIVE: Our goal was to estimate the out-of-pocket costs to parents, and the non-health system costs to society, of raising a child with IDD. METHODS: We used an online retrospective survey, previously developed by our group, to collect parental and societal costs to families of 80 children who presented with IDD of unknown etiology in British Columbia, Canada. RESULTS: Median annual parental costs of caring for 80 children with IDD was CAD$44,570 (range CAD$2245-$225,777). The largest contributors to parental costs were income loss and caregiving time costs. Median annual societal costs (excluding health system costs) were CAD$27,428 (range CAD$0-$119,188). In school age children, the largest contributor to societal costs was a per child school subsidy. Both parental and societal costs increased with increasing IDD severity. Parental costs were not adequately compensated by government benefits received. CONCLUSIONS: Although medical care is universally available through Canadian provincial health systems and social assistance is provided to the families of children with IDD, parents continue to bear a substantial financial burden beyond that associated with raising an unaffected child.

"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.

Whole genomic sequencing (WGS) promises significant personalized health benefits, and its increasingly low cost makes wide clinical use inevitable. However, a core challenge is "incidental findings" (IF). Using focus groups, we explored attitudes about the disclosure of IF in clinical settings from three perspectives: Genetics health-care professionals, the general public, and parents whose children have experienced genetic testing. Analysis was based on a framework approach. All three groups considered practical and ethical considerations. There was consensus that IF presented challenges for disclosure and a pre-test patient-clinician discussion was vital for clarification and agreement. The professionals favored targeted analysis to limit data handling and focus pre-test discussions on medical relevance. Their perspective highlighted ethical concepts of justice and beneficence. The lay groups' standpoint emphasized autonomy and patients' rights to choose what findings they receive, and that patients accept the consequences of any potential anxiety and uncertainty. The lay groups also felt that it was their responsibility to check genomic developments over time with their original test results and saw patient responsibility as an important part of patient choice.

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had influenced these events or affected the couple's reproductive decisions. Finally, parents were asked whether their interest regarding the importance of an etiological diagnosis had changed over time. Interview transcripts were analyzed to determine values parents place on etiological diagnoses and comparisons were made between the two groups. These parents felt the need for a diagnosis most intensely when developmental concerns were first noted, and most parents agreed that this intensity diminished over time. All would have preferred to have an etiological diagnosis, but for some the only reason was curiosity. Validation was the most important value attributed to a diagnosis: it offered legitimacy for the child's behavior and appearance. However, a descriptive label, such as autism, was often more useful to parents than a rare but specific etiological diagnosis. Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID.