Rev. Edward Collins McAllister Correspondence

Entries include typed letters with some biographical information and a handwritten poem on St. Andrew\u27s Rectory stationery

Cross‐cultural adaptation of the Genetic Counseling Outcome Scale (GCOS‐24) for use in Canada: a qualitative study

The Genetic Counselling Outcome Scale (GCOS)‐24 is a patient‐reported outcome measure (PROM) developed and validated in the United Kingdom (UK). The aim of this study was to cross‐culturally adapt GCOS‐24 to Canadian Clinical Genetic Services (CGS). This was achieved through a qualitative study exploring whether the existing GCOS‐24 maintains its intended meaning in a Canadian population and assessing whether GCOS‐24 items could be better worded to meet the needs of members of families affected by genetic conditions in Canada. Thirteen participants were recruited from Canadian Patient Organizations supporting people and families affected by genetic conditions. Data were collected through semi‐structured cognitive interviews, as these allow exploration of participants' comprehension, opinions, thoughts, and feelings regarding GCOS‐24's instructions, response options, and the meaning/relevance of each item. Thematic analysis was utilized for data analysis, and an inductive approach to coding was followed to allow for themes to emerge from the data. Themes were organized in respect to their questionnaire item and further classified into their respective Empowerment dimension. The GCOS‐24 instructions were found easy to understand by all thirteen participants. Although the response options were also found to be straightforward, the data suggest the questionnaire would benefit from the addition of a “non‐applicable” option. Semantic validation of the GCOS‐24 showed that items within the Cognitive Control and Emotional Regulation dimensions were found easy to understand by participants. However, items within the Decisional Control, Behavioural Control and Hope dimensions presented semantic difficulties. Participants provided feedback on syntactic changes to support understanding, and this feedback was used to develop a final Canadian‐adapted version of GCOS‐24, GCOS‐Canada. This study provides the first step towards a valid, culturally adapted PROM for use in Canadian CGS service evaluation and research. GCOS‐Canada would benefit from psychometric validation to ensure validity, reliability, responsiveness, minimal clinically important difference and internal consistency

Patient empowerment: The need to consider it as a measurable patient-reported outcome for chronic conditions

Background: Health policy in the UK and elsewhere is prioritising patient empowerment and patient evaluations of healthcare. Patient reported outcome measures now take centre-stage in implementing strategies to increase patient empowerment. This article argues for consideration of patient empowerment itself as a directly measurable patient reported outcome for chronic conditions, highlights some issues in adopting this approach, and outlines a research agenda to enable healthcare evaluation on the basis of patient empowerment. Discussion: Patient empowerment is not a well-defined construct. A range of condition-specific and generic patient empowerment questionnaires have been developed; each captures a different construct e.g. personal control, self-efficacy/self-mastery, and each is informed by a different implicit or explicit theoretical framework. This makes it currently problematic to conduct comparative evaluations of healthcare services on the basis of patient empowerment. A case study (clinical genetics) is used to (1) illustrate that patient empowerment can be a valued healthcare outcome, even if patients do not obtain health status benefits, (2) provide a rationale for conducting work necessary to tighten up the patient empowerment construct (3) provide an exemplar to inform design of interventions to increase patient empowerment in chronic disease. Such initiatives could be evaluated on the basis of measurable changes in patient empowerment, if the construct were properly operationalised as a patient reported outcome measure. To facilitate this, research is needed to develop an appropriate and widely applicable generic theoretical framework of patient empowerment to inform (re)development of a generic measure. This research should include developing consensus between patients, clinicians and policymakers about the content and boundaries of the construct before operationalisation. This article also considers a number of issues for society and for healthcare providers raised by adopting the patient empowerment paradigm. Summary: Healthcare policy is driving the need to consider patient empowerment as a measurable patient outcome from healthcare services. Research is needed to (1) tighten up the construct (2) develop consensus about what is important to include (3) (re)develop a generic measure of patient empowerment for use in evaluating healthcare (4) understand if/how people make trade-offs between empowerment and gain in health status

The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland

Families in Ireland often wait over 1 year to see a genetic counselor (GC). This qualitative study aimed to explore the views of families who received a diagnosis of 22q11DS in Ireland regarding the need for timely access to genetic counseling at the point of diagnosis. Twenty participants were recruited through the ‘22q Ireland’ support group, giving a response rate of approximately 10% of the total support group members. Semi‐structured interviews were conducted online and by telephone which explored experiences of receiving diagnoses, medical care, genetic counseling, mental health, and coping with the diagnosis. Interviews were transcribed verbatim and analyzed using thematic analysis. The experiences of 20 participants were classified into five main themes: Receiving Diagnosis, Interactions with Healthcare Professionals (HCPs, excluding GCs), Medical Care, Information, and Impact of Condition. Participants reported receiving diagnoses for their children in a sub‐optimal manner due to inappropriate settings and insufficient information, support, and pre‐test counseling. Parents reported feeling responsible for managing their child's complex and fragmented medical care. Participants reported insufficient empathy and little awareness of 22q11DS among HCPs. Participants perceived genetic counseling to be associated with family planning and reported delayed, if any, access to services. Mental health was a particular worry among participants. Conferences about 22q11DS are the main source of information for parents. Participants reported a range of emotions after diagnosis and described the family impact. The findings suggest both an association between HCPs' poor understanding of 22q11DS and the perceived lack of empathy from HCPs and fragmented medical care. There is an identified need for advocacy of the GC profession in Ireland to support these families. Increased awareness of 22q11DS among HCPs and the development of a coordinated care pathway for 22q11DS, with timely access to genetic counseling, may improve care and lead to better outcomes

Using patient-reported outcome measures for quality improvement in clinical genetics: an exploratory study

International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts. However there is limited understanding of the processes by which this can be achieved. This exploratory study followed attempts to utilise two different PROMs measures to support service quality improvement in clinical genetics. PROMs used were the Genetic Counseling Outcome Scale (GCOS-24), a well-validated clinical genetics-specific PROM and Euroqol (EQ-5D), a generic PROM favoured by the UK National Institute for Health and Excellence (NICE). Both of these PROMs enable pre/post intervention comparison. A service audit tool was also used, premised on a patient-reported experience measure. In addition, the study draws on interviews with clinical staff to identify challenges associated with the use of PROMs (response rate, data collection, analysis). Benefits are also explored and include the provision of insight into patients’ needs; complementing clinical judgement; identification of needs being met, evidencing the benefit of services provided; prompting consideration of areas requiring attention; and encouraging professional development

Assessing sensitivity to change of the genomics outcome scale (GOS)

The Genetic Counseling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure (PROM) that was developed to evaluate genetic counseling and testing services by measuring the construct of empowerment. The Genomics Outcome Scale (GOS) is a 6-item version of GCOS-24 that was designed to provide a PROM for use both within and outside clinical genetics services and reduce respondent burden. However, unlike GCOS-24, the sensitivity to change of the GOS have not yet been assessed in appropriate clinical settings. We carried out pre- and post-clinic surveys using the GOS to assess sensitivity to change of the GOS and produce before-and-after GOS data as part of a service evaluation. The survey was sent to patients attending the genetic counseling clinic for a first appointment at the All Wales Medical Genetic Service from 8 April 2019 to 18 September 2019. Patients attending disease management clinics, where genetic issues were not the primary concern, were excluded from this study. A total of 138 respondents were included in the final analysis. The result shows that empowerment scores, measured using the GOS, were significantly higher (p<0.05) after clinic attendance. The GOS shows good sensitivity to change, with a medium-to-large effect size (Cohen’s d=0.73). The result also shows that the service is delivering measurable benefits for its service users

Reporting on patient and public involvement (PPI) in research publications: Using the GRIPP2 checklists with lay co-researchers

© The Author(s). 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License. https://creativecommons.org/licenses/by/4.0/Background: Patient and public involvement (PPI) in health and social care research is considered important internationally, with increasing evidence that PPI improves the quality, relevance and outcomes of research. There has been a growth in research publications that describe PPI in the research process, but the frequency and detail of PPI reporting varies considerably. This paper reports on a collaborative study that aimed to describe the extent of PPI in publications from research funded by the Collaboration for Leadership in Applied Health Research and Care (CLAHRC) in the East of England (EoE), part of the National Institute of Health Research (NIHR) in England (2014-2019). Methods: A descriptive study of all research publications (1st January 2014 to 31st October 2017) funded by the NIHR CLAHRC EoE. Members of the Public Involvement in Research group (PIRg), at the University of Hertfordshire, were actively involved, with four PIRg co-researchers. We used an internationally recognised reporting checklist for PPI called the GRIPP2 (Guidance for Reporting Involvement of Patients and the Public, Version 2) to guide the reviewing process. Results: Out of 148 research papers identified, 16 (14%) reported some aspect of PPI activity and were included for review. Ten of the publications (63%) acknowledged the contributions of PPI individuals and/or groups and five had PPI co-authors. There was considerable variation in the PPI reported in the publications, with some ‘missed opportunities’ to provide detail of PPI undertaken. The perspectives of the co-researchers shaped the reporting of the results from this study. The co-researchers found the GRIPP2-SF (short form) to be useful, but the GRIPP2-LF (long form) was considered over complicated and not user-friendly. Conclusions: This is one of the first studies to involve lay co-researchers in the review of PPI reporting using the GRIPP2 reporting checklists (GRIPP2-SF and GRIPP2-LF). We make recommendations for a revised version of the GRIPP2-SF, with clearer instructions and three additional sections to record whether PPI is reported in the abstract or key words, in the acknowledgements section, and whether there are PPI co-authors. We also recommend the provision of training and support for patient and public peer reviewers.Peer reviewe

Translation, cross‐cultural adaptation, and preliminary validation of a patient‐reported outcome measure for genetic counseling outcomes in Sweden

Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision‐making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale‐24 (GCOS‐24), an internationally validated, patient‐reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling. This study aimed to translate and cross‐culturally adapt the GCOS‐24 to measure patient‐reported outcome from genetic counseling in Sweden. The adaptation process was meticulously conducted, adhering to international guidelines, with cross‐cultural adaptation, translation, and back translation, to ensure semantic, conceptual, and idiomatic equivalence with the original English version. Face validity and understandability was assured using qualitative cognitive interviews conducted with patient representatives, and by a committee of experts in the field. The psychometric properties of the Swedish version of GCOS‐24 (GCOS‐24swe) were evaluated using a robust sample of 374 patients. These individuals received genetic counseling by telephone or video, necessitated by the constraints of the COVID‐19 pandemic. Participants responded to GCOS‐24swe both before and after genetic counseling. The GCOS‐24swe demonstrated face validity, good internal consistency (Cronbach's alpha = 0.86), significant responsiveness (Cohen's d = 0.65, p < 0.001), and good construct validity. The study's findings underscore the GCOS‐24swe's potential as an effective instrument in both clinical practice and research within Sweden. It offers a valuable means for assessing patient empowerment, a key goal of genetic counseling. Additional psychometric assessment of test–retest reliability and interpretability would further enhance the utility of GCOS‐24swe

Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale

The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Phase I: Cognitive interviews were used to explore interpretability of GCOS-24 items and which GCOS-24 items were most valued by the target population. Phase II: The Graded Response Model was used to analyse an existing set of GCOS-24 responses (n = 395) to examine item discrimination. Phase III: Item Selection. Three principles guided the approach to item selection (i) Items with poor discriminative properties were not selected; (ii) To avoid redundancy, items capturing a similar outcome were not selected together; item information curves and cognitive interview findings were used to establish superior items. (iii) Rasch analysis was then used to determine the optimal scale. In Phase I, ten cognitive interviews were conducted with individuals affected by or at risk for a genetic condition, recruited from patient support groups. Analysis of interview transcripts identified twelve GCOS-24 items which were highly valued by participants. In Phase II, Graded Response Model item characteristic curves and item information curves were produced. In Phase III, findings from Phases I and II were used to select ten highly-valued items that perform well. Finally, items were iteratively removed and permutated to establish optimal fit statistics under the Rasch model. A six-item questionnaire with a five-point Likert Scale was produced (The Genomics Outcome Scale (GOS)). Correlation between GCOS-24 and GOS scores is high (r = 0.838 at 99% confidence), suggesting that GOS maintains the ability of GCOS-24 to capture empowerment, whilst providing a less burdensome scale for respondents. This study represents the first step in developing a preference-based measure which could be used in the evaluation of technologies and services used in genomic medicine