scholarly journals Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol

2021 ◽  
Vol 1 ◽  
pp. 23
Author(s):  
Celine Lewis ◽  
James Buchannan ◽  
Angus Clarke ◽  
Emma Clement ◽  
Bettina Friedrich ◽  
...  
Keyword(s):  
Mixed Methods ◽  
Rare Diseases ◽  
Qualitative Interviews ◽  
Genomic Medicine ◽  
Research Programme ◽  
Early Years ◽  
Genomic Testing ◽  
Medicine Service ◽  
Recommendations For Practice

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases. Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies.   Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

Introduction to genomics in primary care

2020 ◽  
pp. 175573802097405
Author(s):  
Alexandra Whiter ◽  
Eamonn Sheridan ◽  
Judith Hayward ◽  
Imran Rafi
Keyword(s):  
Primary Care ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Genomic Testing ◽  
Routine Clinical Care ◽  
Genomic Test ◽  
Medicine Service ◽  
Recent Developments ◽  
Primary Care Practitioners ◽  
Test Result

Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.

scholarly journals Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

2020 ◽  
Vol 10 (4) ◽  
pp. 165
Author(s):  
Amy A. Lemke ◽  
Laura M. Amendola ◽  
Kristine Kuchta ◽  
Henry M. Dunnenberger ◽  
Jennifer Thompson ◽  
...  
Keyword(s):  
Primary Care ◽  
Mixed Methods ◽  
Genetic Testing ◽  
Data Privacy ◽  
Qualitative Interviews ◽  
Genomic Medicine ◽  
Primary Care Providers ◽  
The United States ◽  
Care Physician ◽  
Care Providers

The scalable delivery of genomic medicine requires collaboration between genetics and non-genetics providers. Thus, it is essential to investigate and address the perceived value of and barriers to incorporating genetic testing into the clinical practice of primary care providers (PCPs). We used a mixed-methods approach of qualitative interviews and surveys to explore the experience of PCPs involved in the pilot DNA-10K population genetic testing program. Similar to previous research, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs endorsed high levels of utility for patients and their families but noted logistical challenges to incorporating genetic testing into their practice. Overall PCPs were not familiar with the United States’ Genetic Information Nondiscrimination Act and they expressed high levels of concern for patient data privacy and potential insurance discrimination. This PCP feedback led to the development and implementation of several processes to improve the PCP experience with the DNA-10K program. These results contribute to the knowledge base regarding genomic implementation using a mixed provider model and may be beneficial for institutions developing similar clinical programs.

Medication Adherence Changes in Blacks with Diabetes: A Mixed Methods Study

2020 ◽  
Vol 44 (2) ◽  
pp. 257-270 ◽  
Author(s):  
Deepika Rao ◽  
Martha Maurer ◽  
Jodi Meyer ◽  
Jiaying Zhang ◽  
Olayinka O. Shiyanbola
Keyword(s):  
Mixed Methods ◽  
Medication Adherence ◽  
Illness Perceptions ◽  
Qualitative Interviews ◽  
Barriers And Facilitators ◽  
Interpersonal Factors ◽  
Sequential Mixed Methods ◽  
Over Time

Objectives: In this study, we conducted a longitudinal evaluation of changes in medication adherence and the role of psychosocial and interpersonal factors in these changes among Blacks with type 2 diabetes mellitus (T2DM), and determined barriers and facilitators of T2DM medication adherence. Methods: We used an explanatory sequential mixed methods design for a sample of 287 black adult patients with T2DM in Wisconsin. Two surveys quantitatively evaluated changes in medication adherence, psychosocial factors, and interpersonal factors over time. We conducted 10 semi-structured qualitative interviews to explore participants' perceptions of these changes. Data integration of the quantitative and qualitative findings elucidated barriers and facilitators of medication adherence. Results: Increased adherence was significantly correlated with less concerns about medicines (r = -0.31), higher self-efficacy (r = 0.47), lesser depressive symptoms (r = -0.26), and lesser negative illness perceptions (r = -0.26) at both baseline and follow-up. Patient perceptions of adherence changes included adherence motivators, social support, and complex medication regimens. Integration showed that barriers and facilitators both existed in individuals who had an increase or a decrease in adherence over time. Conclusions: Specific beliefs of Blacks towards T2DM medications must be addressed to improve their adherence. Interventions must be tailored using interpersonal factors.

scholarly journals Men With a “Woman’s Disease”: Stigmatization of Male Breast Cancer Patients—A Mixed Methods Analysis

2018 ◽  
Vol 12 (6) ◽  
pp. 2194-2207 ◽  
Author(s):  
Evamarie Midding ◽  
Sarah Maria Halbach ◽  
Christoph Kowalski ◽  
Rainer Weber ◽  
Rachel Würstlein ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mixed Methods ◽  
Male Breast Cancer ◽  
Qualitative Interviews ◽  
Male Breast ◽  
Breast Cancer Patients ◽  
Mixed Methods Design ◽  
Work Related ◽  
Care Systems

Male breast cancer (MBC) is rare and known as a typical woman’s disease. This study is part of the N-MALE project (Male breast cancer: patient’s needs in prevention, diagnosis, treatment, rehabilitation and follow-up-care) and aims to investigate how MBC patients (MBCP) feel about suffering from a “woman’s disease,” what character the stigmatization has, and how it can be prospectively reduced. Therefore, a mixed methods design is applied including data of N = 27 qualitative interviews with MBCP and quantitative data of N = 100 MBCP. Findings identify a diverse picture, as stigmatization varies between contexts and patients: Most stigmatization concentrates on sexual stigmatization and ignorance of MBC and mostly occurs in cancer care systems and work-related contexts. The level of stigmatization varies with age and amount of treatment methods received, as reported within the created typology of different MBCP stigma types. To prospectively reduce stigmatization in MBCP, more publicity of MBC is needed, as well as gender-neutral communication and information material.

scholarly journals Sri Lankan perspective of knowledge and attitude towards genomic medicine and research: protocol for a qualitative study

2018 ◽  
Author(s):  
Shiran Chamika ◽  
Lydia Weiss ◽  
Kaushalya Jayaweera ◽  
Athula Sumathipala ◽  
Jonathan Ives
Keyword(s):  
Sri Lanka ◽  
Ethical Issues ◽  
Qualitative Interviews ◽  
Genomic Medicine ◽  
Genomic Research ◽  
Sri Lankan ◽  
Knowledge And Attitudes ◽  
Public Perspectives ◽  
Knowledge And Attitude

BackgroundGenomic research allows new discoveries to alleviate human suffering but in turn raises significant ethical issues. In this context, public acceptance and engagement is a major determinant of optimization of genomic research. Therefore, understanding public perspectives related to genomic research is imperative, as it provides a foundation to address ethical issues which may be unknown to researchers and other stakeholders. Although genomic medicine and research has developed in Sri Lanka during the past decade, there is a paucity of understanding about public knowledge and attitudes towards it. MethodsThis research, therefore, aims to explore the understanding, knowledge and attitudes of a Sri Lankan public towards genomic medicine and research, in order to consider more effective and appropriate ways of communicating about the risks and benefits of participating in genomic research. Twenty four participants will be purposively selected from a previously conducted Colombo Twin and Singleton follow-up study (COTASS-2). In-depth qualitative interviews with a semi structured topic guide will be used to collect data, which will be analysed using conventional content analysis.DiscussionThis study is the first of its kind to explore public perspectives towards genomic medicine and research in Sri Lanka. Findings may have implications for producing guidelines for ethical genomic research in Sri Lanka.

Opportunities for education and learning in primary care genomics

2020 ◽  
pp. 175573802097343
Author(s):  
Michelle Bishop ◽  
Judith Hayward ◽  
Imran Rafi
Keyword(s):  
Primary Care ◽  
Genomic Medicine ◽  
Educational Theory ◽  
Genomic Testing ◽  
Anecdotal Evidence ◽  
Learning Gap ◽  
Medicine Service ◽  
Gp Training

The continued evolution of the NHS Genomic Medicine Service, alongside improved accessibility to genomic testing through other routes, will increase consultations regarding genomics issues within primary care. GP trainees identify ‘genetics’ as a learning gap in their training, with anecdotal evidence suggesting that completion of this section in the curriculum is ‘challenging’. To support trainees and trainers in meeting this aspect of GP training, this article outlines relevant educational theory, initiatives and resources in genomics from a primary care perspective. This information will equip the learner with approaches and tools to promote confidence in learning and managing issues involving genomic medicine in practice.

scholarly journals Self-rated stress and experience in patients with Takotsubo syndrome: a mixed methods study

2020 ◽  
pp. 147451512091938 ◽  
Author(s):  
Runa Sundelin ◽  
Chatarina Bergsten ◽  
Per Tornvall ◽  
Patrik Lyngå
Keyword(s):  
Mixed Methods ◽  
Perceived Stress ◽  
Acute Stress ◽  
Qualitative Interviews ◽  
Takotsubo Syndrome ◽  
Perceived Stress Scale ◽  
Stress Scale ◽  
Number Of Patients

Background A relation to stress and stressful triggers is often, but not always, described in patients with Takotsubo syndrome. Few studies have focused on patients’ self-rated stress in combination with qualitative experiences of stress in Takotsubo syndrome. Aims The aim of this study was to describe stress before and after the onset of Takotsubo syndrome. Methods Twenty patients were recruited from five major hospitals in Stockholm, Sweden between December 2014 and November 2018. A mixed methods design was used containing the validated questionnaire, perceived stress scale (PSS-14) filled in at baseline and at a 6 and 12-month follow-up, respectively. Qualitative interviews were made at the 6-month follow-up. Results Self-rated stress, measured by the perceived stress scale, showed stress levels above the cut-off value of 25, at the onset of Takotsubo syndrome (median 30.5). Stress had decreased significantly at the 12-month follow-up (median 20.5, P = 0.039) but remained high in one third of the patients. Qualitative interviews confirmed a high long-term stress and half of the patients had an acute stress trigger before the onset of Takotsubo syndrome. The qualitative interviews showed that the patients had reflected on and tried to find ways to deal with stress, but for many this was not successful. Conclusion Patients with Takotsubo syndrome reported long-term stress sometimes with an acute stress trigger before the onset of Takotsubo syndrome. Stress decreased over time but remained high for a considerable number of patients. Despite reflection over stress and attempts to deal with stress many were still affected after 6 months. New treatment options are needed for patients with Takotsubo syndrome.

scholarly journals Perceptions and experiences of rare diseases among the GP population in Northern Ireland

2019 ◽  
Vol 69 (suppl 1) ◽  
pp. bjgp19X703637
Author(s):  
Julie McMullan ◽  
Taylor McC lenaghan ◽  
Ashleen Crowe ◽  
Amy Jayne McKnight ◽  
Helen McAneney
Keyword(s):  
Northern Ireland ◽  
Literature Review ◽  
Rare Disease ◽  
Rare Diseases ◽  
Information Needs ◽  
Online Survey ◽  
Qualitative Interviews ◽  
Genomic Medicine ◽  
Healthcare Delivery ◽  
Depth Information

BackgroundRare diseases are often complex, life-long conditions with a genetic basis. With advances in phenotyping and genomic medicine, there are now >8000 rare diseases reported. A rare disease is defined by an incidence of <5 cases per 10 000 population; although they are individually rare, collectively they are much more common with 1 in 17 persons affected in their lifetime. The Northern Ireland Rare Disease Implementation Plan (2015) highlighted the need for better coordination of care, the empowerment of patients, better diagnostics, and earlier disease interventions. The report also acknowledged the difficult role that GPs have, especially in the diagnosis of rare diseases. GPs play an important role in healthcare delivery for people living with a rare disease and their families. However, many GPs report challenge identifying and managing individuals with a rare disease appropriately.AimTo explore GP’s perceptions and experiences of rare diseases.MethodA literature review of published research related to GPs and rare disease will be conducted. Databases searched include Medline, Embase, Web of Science, Scopus and Google Scholar. Additionally, an online survey will be completed by GPs November 2018–spring 2019, with follow-up qualitative interviews providing further in-depth information.ResultsInitial searches have revealed 27 relevant publications. A summary of the findings from the literature review will be presented, alongside findings from our GP survey.ConclusionMuch can be learned from the experiences of current GPs to identify rare disease information needs and resources that enable effective GP-patient partnerships.

scholarly journals Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network

2021 ◽  
Vol 11 (7) ◽  
pp. 647
Author(s):  
Nina R. Sperber ◽  
Olivia M. Dong ◽  
Megan C. Roberts ◽  
Paul Dexter ◽  
Amanda R. Elsey ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Program Implementation ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Implementation Strategies ◽  
Clinical Decision ◽  
Implementing Change ◽  
Implementation Outcomes ◽  
Planning Framework

The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project’s strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common; however, operationalization of each differed in accordance with each study’s implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.

scholarly journals Nairobi Early Childcare in Slums (NECS) Study Protocol: a mixed-methods exploration of paid early childcare in Mukuru slum, Nairobi

2020 ◽  
Vol 4 (1) ◽  
pp. e000822
Author(s):  
Robert C Hughes ◽  
Patricia Kitsao-Wekulo ◽  
Sunil Bhopal ◽  
Elizabeth W Kimani-Murage ◽  
Zelee Hill ◽  
...  
Keyword(s):  
Mixed Methods ◽  
Focus Group ◽  
Early Years ◽  
Epidemiological Methods ◽  
Focus Group Discussions ◽  
Group Discussions ◽  
Early Childcare ◽  
Depth Interviews ◽  
Childcare Providers

IntroductionThe early years are critical. Early nurturing care can lay the foundation for human capital accumulation with lifelong benefits. Conversely, early adversity undermines brain development, learning and future earning.Slums are among the most challenging places to spend those early years and are difficult places to care for a child. Shifting family and work structures mean that paid, largely informal, childcare seems to be becoming the ‘new normal’ for many preschool children growing up in rapidly urbanising Africa. However, little is known about the quality of this childcare.AimsTo build a rigorous understanding what childcare strategies are used and why in a typical Nairobi slum, with a particular focus on provision and quality of paid childcare. Through this, to inform evaluation of quality and design and implementation of interventions with the potential to reach some of the most vulnerable children at the most critical time in the life course.Methods and analysisMixed methods will be employed. Qualitative research (in-depth interviews and focus group discussions) with parents/carers will explore need for and decision-making about childcare. A household survey (of 480 households) will estimate the use of different childcare strategies by parents/carers and associated parent/carer characteristics. Subsequently, childcare providers will be mapped and surveyed to document and assess quality of current paid childcare. Semistructured observations will augment self-reported quality with observable characteristics/practices. Finally, in-depth interviews and focus group discussions with childcare providers will explore their behaviours and motivations. Qualitative data will be analysed through thematic analysis and triangulation across methods. Quantitative and spatial data will be analysed through epidemiological methods (random effects regression modelling and spatial statistics).Ethics and disseminationEthical approval has been granted in the UK and Kenya. Findings will be disseminated through journal publications, community and government stakeholder workshops, policy briefs and social media content.

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