ORCID Profile
0000-0002-9186-1644
Current Organisations
University of Delhi Faculty of Management Studies
,
University of Delhi
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Publisher: Wiley
Date: 15-12-2018
DOI: 10.1002/JGC4.1053
Abstract: Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Genetics practitioners with genomic testing experience, were purposively invited to participate in a semi-structured telephone interview and to snowball the invitation to colleagues. Interviews conducted with participants residing in Australia (n = 9) and the UK (n = 5) were transcribed and analyzed using an inductive thematic approach. Three themes emerged: (a) Role delineation: current roles, future roles, and the influence of increasing complexity (b) The evolving spectrum of practice: blurred boundaries between research and clinical services impact on facilitation of informed consent and return of results strategies and (c) Policy and governance needs: equality of access achieving consistent variant interpretation, reporting, and responsibility for review managing incidental findings and professional regulation for Australian genetic counselors. These exploratory data highlight that genetic counseling practice and the essential role of facilitating informed consent are evolving but remain patient-centered, with core skills underpinning practitioners' capacity to adapt.
Publisher: Frontiers Media SA
Date: 26-05-2023
DOI: 10.3389/FONC.2023.1140135
Abstract: “Mainstreaming” is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions and implementation strategies for mainstreaming Lynch syndrome genomic testing. A rigorous theoretical approach inclusive of conducting a systematic review and qualitative and quantitative studies was undertaken using the Consolidated Framework for Implementation Research. Theory-informed implementation data were mapped to the Genomic Medicine Integrative Research framework to generate potential strategies. The systematic review identified a lack of theory-guided health system interventions and evaluation for Lynch syndrome and other mainstreaming programs. The qualitative study phase included 22 participants from 12 health organizations. The quantitative Lynch syndrome survey included 198 responses: 26% and 66% from genetic and oncology health professionals, respectively. Studies identified the relative advantage and clinical utility of mainstreaming to improve genetic test access and to streamline care, and adaptation of current processes was recognized for results delivery and follow-up. Barriers identified included funding, infrastructure and resources, and the need for process and role delineation. The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. Implementation evidence was connected through the Genomic Medicine Integrative Research framework resulting in a mainstreaming oncogenomics model. The proposed mainstreaming oncogenomics model acts as a complex intervention. It features an adaptable suite of implementation strategies to inform Lynch syndrome and other hereditary cancer service delivery. Implementation and evaluation of the model are required in future research.
Publisher: SAGE Publications
Date: 02-2009
Publisher: Springer Science and Business Media LLC
Date: 25-01-2017
DOI: 10.1038/NATURE21062
Publisher: MDPI AG
Date: 06-10-2022
Abstract: The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices. Methods: Participant choices and factors potentially impacting decisions about AFs were examined in an Australian study applying research genomic testing following uninformative diagnostic genetic testing for suspected monogenic kidney disease. Results: 93% of participants (195/210) chose to receive potential AFs. There were no statistically significant differences between those consenting to receive AFs or not in terms of gender (p = 0.97), median age (p = 0.56), being personally affected by the inherited kidney disease of interest (p = 0.38), or by the inheritance pattern (p = 0.12–0.19). Participants were more likely to choose not to receive AFs if the family proband presented in adulthood (p = 0.01), if there was family history of another genetic disorder (p = 0.01), and where the consent process was undertaken by an adult nephrologist (p = 0.01). Conclusion: The majority of participants in this nephrology research genomics study chose to receive potential AFs. Younger age of the family proband, family history of an alternate genetic disorder, and consenting by some multidisciplinary team members might impact upon participant choices.
Publisher: Frontiers Media SA
Date: 26-05-2022
Abstract: Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in patients with kidney failure without distinguishing diagnostic features. To address this challenge, the primary aim of this study is to determine the proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS). A cohort of up to 100 Australian patients with kidney failure of unknown aetiology, with onset & years old and approved by a panel of study investigators will be recruited via 18 centres nationally. Clinically accredited WGS will be undertaken with analysis targeted to a priority list of ∼388 genes associated with genetic kidney disease. The primary outcome will be the proportion of patients who receive a molecular diagnosis (diagnostic rate) via WGS compared with usual -care (no further diagnostic investigation). Participant surveys will be undertaken at consent, after test result return and 1 year subsequently. Where there is no or an uncertain diagnosis, future research genomics will be considered to identify candidate genes and new pathogenic variants in known genes. All results will be relayed to participants via the recruiting clinician and/or kidney genetics clinic. The study is ethically approved (HREC/16/MH/251) with local site governance approvals in place. The future results of this study will be disseminated and inform practical understanding of the potential monogenic contribution to kidney failure of unknown aetiology. These findings are anticipated to impact clinical practice and healthcare policy. [ dora.health.qld.gov.au ], identifier [HREC/16/MH/251].
Publisher: Elsevier BV
Date: 06-2019
Publisher: Elsevier BV
Date: 09-2020
Publisher: Springer Science and Business Media LLC
Date: 02-04-2021
Publisher: Springer Science and Business Media LLC
Date: 15-02-2019
DOI: 10.1038/S41467-019-08800-2
Abstract: The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
Publisher: Elsevier BV
Date: 11-2019
Publisher: Elsevier BV
Date: 2020
Publisher: Springer Science and Business Media LLC
Date: 24-12-2014
DOI: 10.1038/NATURE14135
Publisher: Springer Science and Business Media LLC
Date: 03-2022
Publisher: Public Library of Science (PLoS)
Date: 19-05-2021
DOI: 10.1371/JOURNAL.PONE.0250379
Abstract: Integration of genetic testing into routine oncology care could improve access to testing. This systematic review investigated interventions and the tailored implementation strategies aimed at increasing access to genetic counselling and testing and identifying hereditary cancer in oncology. The search strategy results were reported using the PRISMA statement and four electronic databases were searched. Eligible studies included routine genetic testing for breast and ovarian cancer or uptake after universal tumour screening for colorectal or endometrial cancer. The titles and abstracts were reviewed and the full text articles screened for eligibility. Data extraction was preformed using a designed template and study appraisal was assessed using an adapted Newcastle Ottawa Scale. Extracted data were mapped to Proctor’s et al outcomes and the Consolidated Framework for Implementation Research and qualitatively synthesised. Twenty-seven studies, published up to May 2020, met the inclusion criteria. Twenty-five studies ranged from poor (72%), fair to good (28%) quality. Most interventions identified were complex (multiple components) such as patient or health professional education, interdisciplinary practice and a documentation or system change. Forty-eight percent of studies with complex interventions demonstrated on average a 35% increase in access to genetic counselling and a 15% increase in testing completion. Mapping of study outcomes showed that 70% and 32% of the studies aligned with either the service and client or the implementation level outcome and 96% to the process or inner setting domains of the Consolidated Framework for Implementation Research. Existing evidence suggests that complex interventions have a potentially positive effect towards genetic counselling and testing completion rates in oncology services. Studies of sound methodological quality that explore a greater breadth of pre and post implementation outcomes and informed by theory are needed. Such research could inform future service delivery models for the integration of genetics into oncology services.
No related grants have been discovered for Rosie O Shea.