| 1. |
- Edsjö, Anders, et al.
(författare)
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Building a precision medicine infrastructure at a national level : The Swedish experience
- 2023
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Ingår i: Cambridge Prisms: Precision Medicine. - : Cambridge University Press. - 2752-6143. ; 1
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Forskningsöversikt (refereegranskat)abstract
- Precision medicine has the potential to transform healthcare by moving from one-size-fits-all to personalised treatment and care. This transition has been greatly facilitated through new high-throughput sequencing technologies that can provide the unique molecular profile of each individual patient, along with the rapid development of targeted therapies directed to the Achilles heels of each disease. To implement precision medicine approaches in healthcare, many countries have adopted national strategies and initiated genomic/precision medicine initiatives to provide equal access to all citizens. In other countries, such as Sweden, this has proven more difficult due to regionally organised healthcare. Using a bottom-up approach, key stakeholders from academia, healthcare, industry and patient organisations joined forces and formed Genomic Medicine Sweden (GMS), a national infrastructure for the implementation of precision medicine across the country. To achieve this, Genomic Medicine Centres have been established to provide regionally distributed genomic services, and a national informatics infrastructure has been built to allow secure data handling and sharing. GMS has a broad scope focusing on rare diseases, cancer, pharmacogenomics, infectious diseases and complex diseases, while also providing expertise in informatics, ethical and legal issues, health economy, industry collaboration and education. In this review, we summarise our experience in building a national infrastructure for precision medicine. We also provide key examples how precision medicine already has been successfully implemented within our focus areas. Finally, we bring up challenges and opportunities associated with precision medicine implementation, the importance of international collaboration, as well as the future perspective in the field of precision medicine.
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| 2. |
- Franks, P. W., et al.
(författare)
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Technological readiness and implementation of genomic-driven precision medicine for complex diseases
- 2021
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 290:3, s. 602-620
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Forskningsöversikt (refereegranskat)abstract
- The fields of human genetics and genomics have generated considerable knowledge about the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication, prevention and treatment - genomic-driven precision medicine (GDPM) - may help optimize medical practice. Here, we provide a comprehensive review of GDPM of complex diseases across major medical specialties. We focus on technological readiness: how rapidly a test can be implemented into health care. Although these areas of medicine are diverse, key similarities exist across almost all areas. Many medical areas have, within their standards of care, at least one GDPM test for a genetic variant of strong effect that aids the identification/diagnosis of a more homogeneous subset within a larger disease group or identifies a subset with different therapeutic requirements. However, for almost all complex diseases, the majority of patients do not carry established single-gene mutations with large effects. Thus, research is underway that seeks to determine the polygenic basis of many complex diseases. Nevertheless, most complex diseases are caused by the interplay of genetic, behavioural and environmental risk factors, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data.
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| 3. |
- Johansson, Gunilla, et al.
(författare)
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Nature-based interventions to promote health for people with stress-related illness: An integrative review
- 2022
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Ingår i: Scandinavian Journal of Caring Sciences. - : John Wiley & Sons. - 0283-9318 .- 1471-6712. ; 36:4, s. 910-925
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Forskningsöversikt (refereegranskat)abstract
- BackgroundStress-related illness is increasing and is a common cause of sick leave. Spending time in nature have a positive effect on health and well-being for instance by reducing stress. Specific programmes with nature-based interventions (NBI) with the intention to involve people in activities in a supportive natural environment have been developed for people with stress-related illness.AimTo identify and summarise scientific studies of NBIs to promote health for people with stress-related illness.MethodThe design used in this study is integrative literature review. Scientific studies focusing on any type of NBI for people with stress-related illness were sought in Cinahl, PubMed, PsycInfo, AMED and Scopus. In total, 25 studies using both qualitative and quantitative designs were included in the review.ResultThe reviewed studies focused on garden or forest interventions. In the majority of the studies, NBIs were performed in groups, including individual activities, and the length of programmes varied. Interventions in natural environments have unique qualities for individualised, meaningful activities and interactions with others in a non-demanding atmosphere. NBIs offer restoration that reduces stress, improves health and well-being and strengthen self-efficacy and work ability. Connectedness with nature support existential reflections and people with stress-related illness can achieve balance in everyday life.ConclusionIn conclusion, NBIs may have advantages to promote health for people with stress-related illness and should therefore be considered as an alternative to those affected. Further research from different perspectives, including nursing, is needed to understand the possibilities of NBIs and how they can be integrated into practice.
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| 4. |
- Johansson, Åsa C M, et al.
(författare)
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Genetic heterogeneity of autoimmune disorders in the nonobese diabetic mouse.
- 2003
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Ingår i: Scandinavian Journal of Immunology. - : Wiley. - 1365-3083 .- 0300-9475. ; 57:3, s. 203-213
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Forskningsöversikt (refereegranskat)abstract
- The nonobese diabetic mouse is highly susceptible not only to diabetes but to several autoimmune diseases, and one might suspect that these are controlled by a shared set of genes. However, based on various gene-segregation experiments, it seems that only a few loci are shared and that each disorder is influenced also by a unique set of genes.
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| 5. |
- Johansson, Åsa, et al.
(författare)
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Precision medicine in complex diseases - : Molecular subgrouping for improved prediction and treatment stratification
- 2023
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Ingår i: Journal of Internal Medicine. - : John Wiley & Sons. - 1365-2796 .- 0954-6820. ; 294:4, s. 378-396
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Forskningsöversikt (refereegranskat)abstract
- Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease-both with regards to symptoms and underlying causal mechanisms-and the number of underlying genetic and nongenetic risk factors is often high. Here, we summarize precision medicine approaches for complex diseases and highlight the current breakthroughs as well as the challenges. We conclude that genomic-based precision medicine has been used mainly for patients with highly penetrant monogenic disease forms, such as cardiomyopathies. However, for most complex diseases-including psychiatric disorders and allergies-available polygenic risk scores are more probabilistic than deterministic and have not yet been validated for clinical utility. However, subclassifying patients of a specific disease into discrete homogenous subtypes based on molecular or phenotypic data is a promising strategy for improving diagnosis, prediction, treatment, prevention, and prognosis. The availability of high-throughput molecular technologies, together with large collections of health data and novel data-driven approaches, offers promise toward improved individual health through precision medicine.
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| 6. |
- Rapo, Emil, et al.
(författare)
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Critical components of social prescribing programmes with a focus on older adults - a systematic review
- 2023
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Ingår i: Scandinavian Journal of Primary Health Care. - : Taylor & Francis. - 0281-3432 .- 1502-7724. ; 41:3, s. 326-342
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Forskningsöversikt (refereegranskat)abstract
- Aims: The aim of this study was to identify and evaluate critical components within social prescribing programmes that can impact loneliness, health, or well-being among older adults.Methods: A systematic review with a narrative synthesis was conducted by systematically searching five databases. A total of 1193 hits were identified, screened, and assessed. Twelve studies were included, with data being extracted and deductively analysed in an iterative manner and then tabulated together with outcomes in order to find common narratives.Results: Three critical components were identified: Assessment before prescription, matching participants with relevant activities, and individualised support from link worker. These critical components seemed important for the success of social prescribing programmes since they had an impact on loneliness, health, and well-being. All together, these results highlight the importance of person-centeredness in the prescribing process.Conclusions: The three critical components identified may prove useful in further research, evaluation, or implementation of social prescribing programmes. Important aspects for further evaluation are discussed.
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| 7. |
- Sandborgh, Maria, 1955-, et al.
(författare)
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Integration of Behavioral Medicine Competencies into Physical Therapy Curriculum in an Exemplary Swedish Program : Rationale, Process and Ten-year Review
- 2020
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Ingår i: Physiotherapy Theory and Practice. - Philadelphia : Taylor & Francis. - 0959-3985 .- 1532-5040. ; 36:3, s. 365-377
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Forskningsöversikt (refereegranskat)abstract
- In 2004, Mälardalen University, Sweden, introduced a new undergraduate entry-level physiotherapy program. Program developers constructed the curriculum with behavioral medicine content that reflected the contemporary definition and values of the physiotherapy profession aligning it with current best practices, evidence, and the International Classification of Functioning, Disability, and Health (ICF). The new curriculum conceptualized movement and function as modifiable behaviors in that they reflect behavioral contingencies, perceptions, beliefs, and lifestyle factors as well as pathophysiology and environmental factors. The purpose of this article is to describe how one university accordingly structured its new curriculum and its review. We describe the rationale for the curriculum's behavioral medicinecontent and competencies, its development and implementation, challenges, long-term outcomes, and its related research enterprise. We conclude that physiotherapy practiced by our graduates augments that taught in other programs based on accreditation reviews. With their expanded practice scope, graduates are systematically practicing within the constructs of health and function conceptualized within the ICF. Our intent in sharing our experience is to exemplify one university's initiative to best prepare students with respect to maximizing physiotherapy outcomes as well as establish a dialogue regarding minimum standards of behavioral medicine competencies in physiotherapy education and practice.
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