Finding Out What Matters in Decision-Making Related to Genomics and Personalized Medicine in Pediatric Oncology: Developing Attributes to Include in a Discrete Choice Experiment

McCarthy, Maria; Lourenço, Richard De Abreu; McMillan, Laura; Meshcheriakova, Elena; Cao, Alice; Gillam, Lynn

doi:10.1007/s40271-020-00411-0

Cited by 18 publications

(32 citation statements)

References 53 publications

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“…The main limitation of our think aloud study is the sample size, with nine respondents (six parents of affected children and three affected adults). Given that our findings are consistent with other qualitative studies, in similar contexts, we are confident that we have captured what is important to users of genomic testing in Scotland (Pollard et al 2021;Mackley et al 2018;Lewis et al 2020;Goranitis et al 2020;McCarthy et al 2020). Nonetheless, future developmental work will explore this further.…”

Section: Identifying the Benefits Of Whole Genome Sequencingsupporting

confidence: 85%

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

et al. 2021

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Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

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Section: Identifying the Benefits Of Whole Genome Sequencingsupporting

confidence: 85%

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

et al. 2021

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“…While 62 studies investigated professionals’ perceptions on PM, 45 publications reported on the views of patients. Among the HCPs, many oncologists [ 24 – 32 ] participated in the included studies, but also other medical specialists are represented: nephrologists [ 33 , 34 ], cardiologists [ 27 ], infectiologists [ 24 ], psychiatrists and clinical psychologists [ 35 ], pathologists [ 31 , 32 ], gastroenterology specialty trainees [ 36 , 37 ], geneticists and genetic counsellors [ 31 , 32 , 38 – 42 ], laboratory medicine professionals [ 43 ], pharmacists [ 44 , 45 ], critical care intensivists [ 38 ], physician assistants [ 46 ] and nurses [ 30 , 38 , 46 – 48 ]. From the outpatient sector, primary care providers [ 46 , 49 – 51 ] or family medicine providers [ 27 , 52 ] participated in some studies.…”

Section: Resultsmentioning

confidence: 99%

“…Apart from these positive assessments, studies also demonstrate that some professionals are uncertain about the value of genetic testing [ 51 , 90 ] and doubt that all patients will benefit significantly from PM [ 30 , 31 , 42 , 49 , 54 , 57 ]. In addition, Kichko et al found in their study differences in attitudes between physicians from Pennsylvania and Bavaria.…”

Section: Resultsmentioning

confidence: 99%

Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis

2021

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Background Precision medicine development is driven by the possibilities of next generation sequencing, information technology and artificial intelligence and thus, raises a number of ethical questions. Empirical studies have investigated such issues from the perspectives of health care professionals, researchers and patients. We synthesize the results from these studies in this review. Methods We used a systematic strategy to search, screen and assess the literature for eligibility related to our research question. The initial search for empirical studies in five data bases provided 665 different records and we selected 92 of these publications for inclusion in this review. Data were extracted in a spreadsheet and categorized into different topics representing the views on ethical issues in precision medicine. Results Many patients and professionals expect high benefits from precision medicine and have a positive attitude towards it. However, patients and professionals also perceive some risks. Commonly perceived risks include: lack of evidence for accuracy of tests and efficacy of treatments; limited knowledge of patients, which makes informed consent more difficult; possible unavailability of access to precision medicine for underprivileged people and ethnic minorities; misuse of data by insurance companies and employers, potential of racial stigmatization due to genetic information; unwanted communication of incidental findings; changes in doctor-patient-relationship through focusing on data; and the problem that patients could feel under pressure to optimize their health. Conclusions National legislation and guidelines already minimize many risks associated with precision medicine. However, from our perspective some problems require more attention. Should hopes for precision medicine’s benefits be fulfilled, then the ethical principle of justice would require an unlimited access to precision medicine for all people. The potential for autonomous patients’ decisions must be greatly enhanced by improvements in patient education. Harm from test results must be avoided in any case by the highest possible data security level and communication guidelines. Changes in the doctor-patient relationship and the impact of precision medicine on the quality of life should be further investigated. Additionally, the cost-effectiveness of precision medicine should be further examined, in order to avoid malinvestment.

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“…The application of qualitative methods to inform preference-based values has gained popularity in recent years [22][23][24]. To elicit preferences, both quantitative and qualitative methods are used [19,[25][26][27][28]. Discrete-choice experiments (DCEs) have been applied widely to quantify stakeholder preferences for healthcare interventions, including genomic technologies [28][29][30][31].…”

Section: Key Points For Decision Makersmentioning

confidence: 99%

“…While national decision-making bodies such as the Canadian Agency for Drugs and Health Technologies (CADTH) aim to incorporate patient values into reimbursement recommendations, integration at the stage of evidence development is limited [15]. Patient and public values for precision medicine are characterized by substantial preference heterogeneity and preference-sensitive trade-offs [11,14,[16][17][18][19]. Incorporating the spectrum of potential impacts of a policy decision directly into the economic evaluation of precision medicine allows decision making to align with of listening and responding to other participants' viewpoints [13,32].…”

Section: Focus Group Sessionsmentioning

confidence: 99%

Genomic Testing for Relapsed and Refractory Lymphoid Cancers: Understanding Patient Values

Costa

Regier

Raymakers

et al. 2020

Patient

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Background New clinical genomic assays for lymphoid cancers allow for improved disease stratification and prognostication. At present, clinical implementation has been appropriately limited, owing to a paucity of evidence to support clinical and cost effectiveness. Understanding patients' values for precision oncology under conditions of uncertainty can be used to inform priority-setting decisions. Objectives Our objective was to ascertain patients' qualitative preferences and attitudes for prognostic-based genomic testing. Methods Individuals who were diagnosed with lymphoid cancer between 2000 and 2018 in British Columbia, Canada, were recruited to participate in one of three focus groups. A maximum variation sampling technique was used to capture a diversity of perspectives. A patient partner was involved in the development of the focus group topic guide and presentation materials. All sessions were audio recorded and analyzed using NVivo qualitative analysis software, version 12. Results In total, 26 participants took part in focus groups held between November 2018 and February 2019. Results illustrate qualitative preference heterogeneity for situations under which individuals would be willing to undergo genomic testing for relapsed lymphoid cancers. Preferences were highly contextualized within personal experiences with disease and treatment protocols. Hypothetical willingness to pay for testing was contingent on invasiveness, the potential for treatment de-escalation, and personal health benefit. Conclusions Patients are supportive and accepting of evidentiary uncertainty up until the point at which they are required to trade-off the potential for improved quality and length of life. Demand for precision medicine is contingent on expectations for benefit alongside an acknowledgment of the opportunity cost required for implementation. The clinical implementation of precision medicine will be required to address evidentiary uncertainty surrounding personal benefit while ensuring equitable access to emerging innovations. This article is part of the topical collection "Formative qualitative evidence for health preference and outcomes research".

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Finding Out What Matters in Decision-Making Related to Genomics and Personalized Medicine in Pediatric Oncology: Developing Attributes to Include in a Discrete Choice Experiment

Cited by 18 publications

References 53 publications

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis

Genomic Testing for Relapsed and Refractory Lymphoid Cancers: Understanding Patient Values

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