Biomedical subjects

Clara Gaff

Publications and source records attributed to Clara Gaff.

3 recordsLinked to original sources

PubMed2026

Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study.

PURPOSE: This study aims to assess the content validity, face validity and comprehensiveness of the: (a) EQ-5D-5L, EQ-HWB, and ASCOT SCT4, for adults with rare genetic conditions; (b) the EQ-5D-5L, EQ-HWB, and ASCOT-carer for carers of adults or children with rare genetic conditions; and (c) the EQ-5D-Y-5L carer proxy-complete for children with rare genetic conditions. METHODS: In total, 60 qualitative think-aloud interviews were conducted in Australia and England to understand individuals' thought process during the completion of the QoL measures. Participants were subsequently led through a semi-structured discussion. Transcripts were analysed for whether participants demonstrated understanding of the measures and thematic analysis was conducted on responses to the semi-structured discussion. RESULTS: The majority of participants showed good understanding and supported the validity of the measures for people experiencing rare conditions. For carers, however, a broader evaluative space than health-related QoL was preferred. Several non-health domains were identified as important to both patients and carers, including treatment availability, impact on employment and finance, information and uncertainty, medication and carer burden, impact of passing on a condition, relationships and social connection, and experience with the healthcare system. CONCLUSION: This study provides some support for the face validity and comprehensiveness of the measures for people experiencing rare conditions. However, several participants felt that the narrow health domains were inadequate to capture the breadth of their lived experience. Future research should explore the extent to which the measures capture differences and changes in the QoL domains identified as important to patients and carers.

Humans↗

PubMed2026

What influenced the use of embedded genetic expertise by non-genetic clinicians: a qualitative study using the diffusion of innovations theory and theoretical domains framework.

BACKGROUND: While employing change agents is a widely used strategy to support implementation of evidence-based practices in healthcare, the perspectives of the target users of this intervention are under-explored. Within a genomic care setting in Australia, we examined non-genetic clinicians' views of and experience with embedded genetic counsellors employed as external change agents to support the adoption of genomics in clinical care. METHODS: We conducted qualitative interviews with 16 non-genetic healthcare professionals involved in different models of genomic care, all of which employed genetic counsellors as external change agents to provide embedded genetic expertise and support in non-genetic specialty clinics. The Diffusion of Innovations (DOI) theory and the Theoretical Domains Framework (TDF) were drawn upon to guide the study design and data analysis to explore the enablers/barriers to non-genetic clinicians' use of genetic expertise and the wider implementation context of the change agent approach. RESULTS: The TDF domain 'Belief about Consequences' was a positive influence on non-genetic specialists' view of the embedded change agents, when they believed that the change agents positively impacted patient outcomes and the clinicians' knowledge and practice of using genomics in routine care. Meanwhile, major barriers were related to 'Environmental Context & Resources,' e.g. time constraints and logistic hurdles of involving change agents. Perceived attributes related to 'complexity' and 'observability' of genetic expertise were critical factors influencing the decision to put the support to actual use, impacting the diffusion of the genomic innovation. CONCLUSIONS: Our study offers insights into behavioural influences and contextual conditions shaping clinicians' decisions to interact with genetic counsellor change agents and incorporate (or not) their expertise into their routine care. Such understandings can inform future design and implementation of interventions that use change agents to support the adoption of innovations, such as genomics, effectively and sustainably.

Journal Article↗

PubMed2024

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

PURPOSE: Families of children in pediatric acute care who are offered ultrarapid genomic sequencing are making complex decisions during a high-stress period. To reduce complexity for families and clinicians, we offered genomic screening for the child and parents after the completion of diagnostic testing. We evaluated uptake, understanding, and service delivery preferences. METHODS: A cohort of 235 families who had completed ultrarapid diagnostic genomic sequencing at 17 Australian hospitals were offered up to 3 screens on their genomic data: pediatric-onset, adult-onset, and expanded couple carrier screening. We investigated decision making, understanding, and service delivery preferences using surveys at 3 time points (pre counseling, post counseling, and post result) and performed inductive content analysis of pretest genetic counseling transcripts. RESULTS: A total of 119 families (51%) attended genetic counseling with 115 (49%) accepting genomic screening. Survey respondents were more likely to find decisions about couple carrier screening easy (87%) compared with adult (68%; P = .002) or pediatric (71%; P = .01) screening decisions. All respondents with newly detected pathogenic variants accurately recalled this 1 month later. A delayed offer of screening was acceptable to most respondents (78%). CONCLUSION: Separating genomic screening from the stressful diagnostic period is supported by families who demonstrate good knowledge and recall. Our results suggest delaying genomic screening should be trialed more widely.

Humans↗