Successful approaches for personalised medicine are becoming a reality. To show this, ICPerMed features best practice examples. These are suggested by ICPerMed members and approved by ICPerMed.
The best practice examples cover different aspects of the value chain. In particular, two different types of best practice examples are featured:
1. Successful translation of personalised medicine research into an added value for the patient.
2. Policy making and impact analysis for personalised medicine research.
In addition to the best practice examples presented here, ICPerMed organises the ICPerMed Best Practice in Personalised Medicine Recognition. On a yearly basis, players in the field of personalised medicine can apply for this. More information and presentation of successful examples from previous years can be found here.
Juvenile idiopathic Arthritis (JIA) is a childhood autoimmune condition that causes pain, stiffness and swelling of the joints and other supporting structures of the body. It is thought to arise from a combination of genetic and environmental factors and affects about 3:1000 Canadian children. Canadian Institutes of Health Research (CIHR) and Genome Canada funded the international research programs UCAN CAN-DU.
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Mosaic, Psifas in Hebrew, is Israel’s National Genomic Medicine Initiative. It is developing a unique infrastructure for facilitating large scale prospective studies based on advanced integration of community and hospitals longitudinal retrospective clinical data, fully sequenced genomes and a platform for patient recall and follow up studies.
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In 2016, the Estonian Genome Centre was established as a first step to enable personalised medicine in Estonia. The 5-year programme for the Implementation of Personalised Medicine in Estonia was launched in 2019. This programme is based on two previous projects, estPerMed and Clinical decision support system (see Figure below), and its main goal is to create the fundament to employ genetic data more extensively in clinical practice, e.g. for personalised genetic risk-based prevention.
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Pharmacogenomics is the study of how genes affect a person’s response to drugs and risk of side effects and enables a personalised choice and dosage of drugs. So far, this knowledge is not routinely applied in patient care. To improve this situation, a “serious game” was developed in the context of the European project U-PGx. It offers a more intuitive and practical training of medical students in recognizing adverse drug effects that may be caused by pharmacogenomics.
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Four university hospitals in the German region of Baden-Wuerttemberg joined forces as “Centers for Personalised Medicine”. Together, they offer access to state-of-the art personalised medicine approaches to all patients in the region, starting in the oncology field and expanding to further disease indications.
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The Swiss Personalized Health Network (SPHN) promotes the development, implementation, and validation of coordinated infrastructures to make health data interoperable and shareable for research in Switzerland. SPHN’s efforts are aimed towards establishing a data-driven health ecosystem. Such an ecosystem is key for research in personalised medicine, and, eventually, for personalised clinical applications, such as more precise diagnostic, therapeutic, and prevention strategies.
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Familial Hypercholesterolaemia (FH) is an inherited disorder of lipid metabolism. Patients suffer from high cholesterol levels since birth. If this is not treated, their risk for a cardiovascular disorder is very high. Genetic analysis can predict the severity of the disease and allows to choose the best, personalised treatment from a wide variety of options, reducing the risk of cardiovascular disease dramatically while keeping side effects to a minimum.
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Globally, cardiovascular diseases (CVDs) account for approximately 50% of deaths from non-communicable diseases (NCDs) and are attributed a 10% global disease burden (DALY). Cardiac rehabilitation programmes aim at contributing to the recovery and secondary prevention of cardiac events, promote healthy behaviour, increase understanding of the new health condition and improve the psychosocial well-being of the patients.
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The MedeA Initiative is a personalized medicine (PM) clinical implementation programme in the Spanish Spanish region Extremadura. It is based on an analysis of each patient’s individual pharmacogenetic biomarkers, drug-drug interactions and clinical data and acts as a clinical decision support tool, suggesting the best drug or drug combination for the individual patient.
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The ex-vivo gene therapy Strimvelis® was approved in Europe in 2016 to treat children affected by severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) who lack a matching bone marrow donor. ADA-SCID is an inherited disorder caused by mutations in the ADA gene and results in a seriously compromised immune system.
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The objective of the project “PERSonalised mEdicine for Patients with Haemophilia and Other rare bleediNg disordErs” (PERSEPHONE) has been to implement a personalised approach for the optimal multidisciplinary care of haemophilic patients. The patient management pathway was re-designed based on a Value Based Healthcare (VBH) approach.
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The MASTER (Molecularly Aided Stratification for Tumour Eradication Research) program is a personalised oncology network that illustrates the clinical potential of full genetic analyses and individually tailored therapy in young adults with advanced cancers and patients with rare tumours for which often only few treatment options are available.
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Healthcare organizational scenarios are changing rapidly, and this requires the re-design of the hospital processes through the adoption of new organizational models, specifically for the proactive management of chronic and fragile patients. The introduction of new services for patients and the use of Telemedicine and Artificial Intelligence technologies are key elements to support the expected change.
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Genomic medicine is profoundly changing patient care. Routine genome sequencing will enable a high number of patients to benefit from more personalised diagnostics and personalised therapeutic care. This includes rare diseases and cancer but also more common diseases (e.g. metabolic, cardiovascular, neurological diseases).
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The Genomic Medicine Sweden (GMS) initiative aims to contribute to personalised medicine and improved healthcare across Sweden. This will be accomplished through the implementation of large-scale sequencing techniques within healthcare. As new technologies mature, the aim is also to include other omics technologies to provide next-generation diagnostics in healthcare.
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Genetic variations between individual persons can lead to huge differences in how they respond to drugs. This is a major challenge for finding the right medication and dosage as well as for drug development. The study presented here is a first step towards understanding the underlying genetic mechanisms and aims to deduce recommendations for clinical practice.
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“NAGEN 1000” is a Spanish regional pilot study to incorporate recent advances in cutting edge genomic research technology (Whole Genome Sequencing) into the real clinical practice.
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The NGM works to implement personalised lung cancer care effectively in clinical routine. To this end NGM was founded in 2010 within the lung cancer program of the Center for Integrated Oncology (CIO), a leading oncology center, at the University Hospital of Cologne.
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