Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

Abstract

word count: 198 2 ABSTRACT Purpose:Broadening access to genomic testing and counselling will be necessary to realise the benefits of personalised healthcare. This study aimed to assess the feasibility of delivering a standardised genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients. Methods:A pre-post prospective cohort study recruited 98 patients affected by IRD to receive standardised multidisciplinary care. A checklist was used to assess the fidelity of the care process. Patient-reported outcome measures -the Genetic Counselling Outcome Scale (GCOS-24), ICEpop CAPability measure for Adults (ICECAP-A), and the EuroQol 5-dimension questionnaire (EQ-5D) -and a resource-use questionnaire were administered to investigate rates of missingness, ceiling effects, and changes over time. Results:The care model was delivered consistently. Higher rates of missingness were found for the genetic-specific measure (GCOS-24). Considerable ceiling effects were observed for the generic measure (EQ-5D). The ICECAP-A yielded less missing data, without significant ceiling effects. It was feasible to use telephone interviews for follow-up data collection. Conclusion:The study highlighted challenges and solutions associated with efforts to standardise genomic care for IRD. The study identified appropriate methods 3 for a future definitive study to assess the clinical and costeffectiveness of the care model.

Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis

“…The role of genetics or genomics specialists was described in eight papers. 8,22,24,30,31,34,52,53 Five 8,22,24,31,32 reported that clinicians had variable or limited access to genetics services and reported having 'unfamiliar' relationships with geneticists. 32 The lack of genetics expertise across the workforce was identified as a barrier to patient referral to genetic services in a systematic review.…”

“…31 Three described use of multi-disciplinary teams (MDTs) to deliver specialised genetics services. 30,52,53 Evaluation of an American paediatric telemedicine service demonstrated a positive impact on patients who reported high satisfaction, especially in underserved areas, because of the model's flexibility and decrease in waiting times. 30 Members of a rare disease MDT in the UK described how they valued the clinical and scientific diversity to make informed decisions about eligibility for GS, though it was acknowledged the MDT was resource intensive and, beyond certain conditions, remains unusual in UK health services.…”

“…52 A pre/post study evaluating MDTs to treat inherited retinal dystrophy found that the model was delivered consistently but it was not clear what impact the MDT had on the overall outcomes of the study. 53…”

Propriedades psicométricas da Genetic Counseling Outcome Scale (GCOS-24) para o idioma Português-Brasileiro

“…Apesar dessa definição ainda não ser formalizada, o empoderamento ganhou destaque nos serviços de saúde (WALLERSTEIN, 2006;HERBERT et al, 2009) COSTAL TIRADO et al, 2017;DAVISON et al, 2017;PALMER et al, 2018;ISON et al, 2019).…”

“…Dinamarca, Espanha e Holanda (DINESS et al, 2017;MUÑOZ-CABELLO et al, 2017;VOORWINDEN et al, 2019). Além disso, foi utilizada como instrumento para avaliar o AG em diversos serviços de aconselhamento genético (INGLIS et al, 2015;COSTAL TIRADO et al, 2017;DAVISON et al, 2017;PALMER et al, 2018;ISON et al, 2019).…”