Understanding the impact of genetic testing for inherited retinal dystrophy

Combs, Ryan; McAllister, Marion; Payne, Katherine; Lowndes, Jo; Devery, Sophie; Webster, Andrew R.; Downes, Susan M.; Moore, Anthony T.; Ramsden, Simon; Black, Graeme; Hall, Georgina

doi:10.1038/ejhg.2013.19

Cited by 28 publications

(36 citation statements)

References 27 publications

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“…Given the willingness to undergo testing and demonstrated WTP, concurrent consideration should be given to the need to develop support services that adequately mitigate for negative consequences (the burden of the knowledge, emergence of moral dilemmas around reproduction, potential impact on insurance) that could emerge from testing. 11 Research on the WTP for diagnostic technologies is timely and has been explored for various diseases. 3,16 The inclusion of qualitative data permitted a deeper exploration of the issues, with responses to scenario 2 of particular interest.…”

Section: Discussionmentioning

confidence: 99%

“…The available evidence suggests that patients are generally enthusiastic towards testing and feel that it should be available, even if they may choose not to utilise it themselves. [8][9][10][11] Recently, Eden et al 4 examined the monetary value that individuals with and without prior experience of retinitis pigmentosa placed upon genetic counselling and testing. Responding to a hypothetical scenario, the majority of their sample reported that they would seek genetic counselling and testing.…”

Section: Introductionmentioning

confidence: 99%

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Willingness to pay for genetic testing for inherited retinal disease

et al. 2014

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This paper investigates the willingness of adults with inherited retinal disease to undergo and pay for diagnostic genetic testing in three hypothetical scenarios and to explore the factors that influence decision making. Fifty patients were presented with three scenarios whereby genetic testing provided increasing information: confirming the diagnosis and inheritance pattern alone, providing additional information on future visual function, and identifying in addition a new treatment which could stabilise their condition. Willingness to pay (WTP) was elicited using an iterative bidding game. Regression analysis was used to investigate the probability of agreeing to and paying for testing. Qualitative data were also reviewed to provide a comprehensive understanding of WTP and decision making. The majority of participants agreed to undergo genetic testing in each of the three scenarios. Scenario 2 was the least acceptable with 78% of participants agreeing to genetic testing. The probability of agreeing to genetic testing decreased with age. Between 72 and 96% of participants reported a WTP for genetic testing. Average WTP was d539, d1516, and d6895 for scenarios 1, 2, and 3 respectively. Older participants and participants with higher incomes were willing to pay more for testing. Qualitative data provided additional detail about the rationale behind participants' decisions. The study suggests that patients with inherited retinal disease were willing to undergo and to pay for diagnostic genetic testing, suggesting that they valued the information it may provide. However, several patients preferred not to receive prognostic information and were less willing to pay for genetic testing that yielded such detail.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Willingness to pay for genetic testing for inherited retinal disease

et al. 2014

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“…18,21,22 The selection of the GCOS-24 was informed by a previous programme of work on how to value outcomes of clinical genetics services. [21][22][23] 28 Qualitative work suggested that the concept of autonomy is particularly important for people diagnosed with inherited eye conditions, 18 which is included as a domain in the ICECAP-A measure. Measures of capability could, in theory, also capture the impact of being able to make an informed decision which has been identified as a core goal for clinical genetics services.…”

Section: Outcome Measuresmentioning

confidence: 99%

“…A care model (see Figures 1 and 2) was developed in response to a stated need by patients with IRD and as a result of qualitative research which explored these needs 18,19 using the Kellogg Logic Model Development Guide. 20 The care model was delivered in multidisciplinary clinics at a single regional genetics centre by ophthalmologists (for eye examinations, diagnosis and clinical management), genetic counsellors (to provide counselling support and convey genetic information), and eye clinic liaison officers (to provide further practical and emotional support).…”

Section: Introductionmentioning

confidence: 99%

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

Davison

Payne

Eden

et al. 2017

Genetics in Medicine

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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.

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“…[2][3][4][5] Coupled with planned changes in service delivery so that the commissioning of genetic testing within a specialty, such as ophthalmology, should be led by that specialty, it seems likely that there will be a rapid growth in access to genetic testing for inherited retinal disease. 6 Patients with inherited retinal disease have variable self-reported understanding of both genetics and genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

et al. 2014

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Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.

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Understanding the impact of genetic testing for inherited retinal dystrophy

Cited by 28 publications

References 27 publications

Willingness to pay for genetic testing for inherited retinal disease

Willingness to pay for genetic testing for inherited retinal disease

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

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

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