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Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

ABSTRACT: Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing. Methods: An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices. Results: Forty-six completed surveys representing 43 clinical institutions offering pharmacogenomic testing were received. Thirty-two (74%) respondents obtain IC from patients with variability in elements incorporated. Results revealed that twenty-nine (67%) institutions discuss the benefits, description, and purpose of pharmacogenomic testing with patients. Less commonly discussed elements included methodology and accuracy of testing, and laboratory storage of samples. Discussion: IC practices varied widely among survey respondents. Most respondents desire the establishment of consensus IC recommendations from a trusted pharmacogenomics organization to help address these disparities.

SUBMITTER: Pereira L

PROVIDER: S-EPMC10895424 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

Pereira Lucas L Haidar Cyrine-Eliana CE Haga Susanne B SB Cisler Anna G AG Hall April A Shukla Sanjay K SK Hebbring Scott J SJ Leary Emili J W EJW

Frontiers in pharmacology 20240208

Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing. Methods: An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices. Results: Forty-six completed surveys rep ...[more]

PMID: 38410134

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Project description:RationaleDespite growing emphasis among healthcare decision-makers on patient perspectives and real-world outcomes to inform care and access decisions, understanding of patient journey experiences in rare diseases remains limited due to data collection and evaluation challenges.Aims and objectivesThis systematic literature review (SLR) assessed study designs, methodologies, and outcomes reported in real-world investigations of rare disease patient journeys.MethodsSearches in PubMed and Google Scholar targeted English-language publications and congress proceedings from 1 January 2014, to 30 April 2024, including rare disease patients, caregivers, or healthcare providers. Keywords included 'Journey', 'Path', or 'Odyssey'. Two reviewers independently assessed eligibility and abstracted data. Descriptive analyses and quality assessments were conducted.ResultsThirty-one studies met inclusion criteria, with 296,548 participants spanning over 600 rare diseases. Most studies used prospective observational (61%) and cross-sectional (26%) designs and were conducted in Europe (45%). Interviews (39%) and surveys (29%) were common methodologies. Patients (87%) were the primary research focus, compared to caregivers (32%) or providers (10%). The most studied journey stages were 'Pre-diagnosis/Screening' (97%) and 'Diagnosis' (84%), while 'Disease Awareness' (16%) and 'Treatment Adherence' (6%) were less common. Across 164 outcomes reported, frequent outcomes included 'Healthcare Resource Utilization' (94%), 'Symptoms' (74%), and 'Time-to-Diagnosis' (71%). Fewer studies reported 'Costs' (19%), 'Caregiver/Family Burden' (16%), and 'Productivity' (13%). Time-to-diagnosis averaged 11.8 years and a median of 6.1 years. All but one study (97%) was rated low or very low quality due to observational designs.ConclusionMost rare disease patient journey evidence focuses on 'Pre-diagnosis/Screening' and 'Diagnosis' stages using qualitative methods and surveys. While symptoms, time-to-diagnosis, and resource utilization were commonly reported, evidence gaps included treatment adherence, caregiver burden and productivity. Longitudinal assessments to collect real-world care and treatment burden outcomes, including caregiver perspectives, can enhance both clinician and policy decision-making for individuals living with rare diseases.

Project description:IntroductionDoctors have a legal requirement and duty of care to ensure patients are enabled to make an informed decision about their treatment, including discussion of the benefits, risks and alternatives to a procedure. A patient-centred approach to consent has been firmly established in Ireland, and fundamental to this is the ability to engage in a dialogue that offers comprehensible information to patients. Telemedicine has revolutionised the way we can deliver care to patients in the modern era of computers, tablets, and smartphones, and its use has been rapidly expanded. Novel digital strategies to improve the informed consent process for surgical procedures have been increasingly under investigation over the last 10-15 years and may offer a low cost, accessible and tailored solution to consent for surgical interventions. Within vascular surgery, superficial venous interventions have been associated with a high number medicolegal claims and also represents an area within the specialty with rapidly evolving technology and techniques. The ability to communicate comprehensible information to patients has never been greater. Thus, the author's aim is to explore whether it is feasible and acceptable to deliver a digital health education intervention to patients undergoing endovenous thermal ablation (EVTA) to supplement the consent process.MethodsThis is a prospective, single centre, randomised controlled, feasibility trial recruiting patients with chronic venous disease deemed suitable to undergo EVTA. Patients will be randomised to receive either standard consent (SC) or a newly developed digital health education tool (dHET). The primary outcome is feasibility; assessing the recruitment and retention rate of participants and assessing acceptability of the intervention. Secondary outcomes include knowledge retention, anxiety and satisfaction. This feasibility trial is designed to recruit 40 patients, which will allow for a moderate dropout rate. This pilot study will inform the authors of the appropriateness of an adequately powered multicentre trial.DiscussionTo examine the role of a digital consent solution for EVTA. This may improve and standardise the consent dialogue with patients and may have the potential to reduce claims related to poor consent processes and disclosure of risks.Ethical committee referenceEthical approval has been sought and received from both the Bon Secours Hospital and RCSI (202109017), on 14 May 2021 and 10 October 2021, respectively.Trial registrationClinicalTrials.gov Identifier: NCT05261412 , registered on 1 March 2022.

Dataset Information

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

Publications

Assessment of the current status of real-world pharmacogenomic testing: informed consent, patient education, and related practices.

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