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1.
Cytotherapy ; 19(2): 293-298, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27956199

RESUMEN

Often, novel gene and cell therapies provide hope for many people living with incurable diseases. To facilitate and accelerate a successful regulatory approval and commercialization path for effective, safe and affordable cell and gene therapies, the involvement of patient advocacy groups (PAGs) should be considered early in the development process. This report provides a thorough overview of the various roles PAGs play in the clinical translation of cell and gene therapies and how they can bring about positive changes in the regulatory process, infrastructure improvements and market stability.


Asunto(s)
Tratamiento Basado en Trasplante de Células y Tejidos/economía , Comercio , Terapia Genética/economía , Defensa del Paciente , Participación del Paciente/economía , Tratamiento Basado en Trasplante de Células y Tejidos/ética , Comercio/métodos , Comercio/tendencias , Terapia Genética/ética , Terapia Genética/legislación & jurisprudencia , Recursos en Salud/economía , Recursos en Salud/provisión & distribución , Accesibilidad a los Servicios de Salud/economía , Humanos , Defensa del Paciente/economía , Poder Psicológico , Terapias en Investigación , Investigación Biomédica Traslacional
2.
Int J Technol Assess Health Care ; 30(4): 416-22, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25407328

RESUMEN

OBJECTIVES: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required. METHODS: Discussion with an expert panel was augmented with references and case studies to explore robust approaches for HTA evidence generation for rare disease treatments. RESULTS: Traditional RCTs can be modified using sequential, three-stage or adaptive designs to gain more power from a small patient population or to focus trial design. However, such designs need to maintain important design aspects such as randomization and blinding and be analyzed to take account of the multiple analyses performed. N-of-1 trials use within-patient randomization to test repeat periods of treatment and control until a response is clear. Such trials could be particularly valuable for rare diseases and when prospectively planned across several patients and analyzed using Bayesian techniques, a population effect can be estimated that might be of value to HTA. When the optimal outcome is unclear in a rare disease, disease specific patient reported outcomes can elucidate impacts on patients' functioning and wellbeing. Likewise, qualitative research can be used to elicit patients' perspectives, with just a small number of patients. CONCLUSIONS: International consensus is needed on ways to improve evidence collection and assessment of technologies for rare diseases, which recognize the value of novel study designs and analyses in a setting where the outcomes and effects of importance are yet to be agreed.


Asunto(s)
Enfermedades Raras , Evaluación de la Tecnología Biomédica/métodos , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Proyectos de Investigación
3.
Value Health ; 16(8): 1163-9, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24326170

RESUMEN

OBJECTIVE: To pilot the use of multicriteria decision analysis to establish and apply a framework of weighted attributes to value orphan medicinal products. METHODS: Literature searches on the natural history and burden of 40 rare diseases and of how payers assess treatment value and three workshops with, respectively, GlaxoSmithKline managers working on orphan medicinal products, European Union clinical and health economics experts, and representatives of rare diseases patient groups in the European Union. RESULTS: Eight nonmonetary attributes were identified and weights agreed: four concern the disease being treated and four the treatment itself. About half of the weight went to attributes of the disease treated and half to attributes of the treatment. Patient group representatives gave greater weight than did the experts to patients' and carers' quality of daily life. CONCLUSIONS: The multicriteria decision analysis approach piloted works and could be developed for use by payers and health technology assessment bodies.


Asunto(s)
Técnicas de Apoyo para la Decisión , Producción de Medicamentos sin Interés Comercial/economía , Calidad de Vida , Evaluación de la Tecnología Biomédica/métodos , Cuidadores/psicología , Costo de Enfermedad , Costos y Análisis de Costo , Europa (Continente) , Humanos , Pacientes/psicología , Proyectos Piloto
4.
Orphanet J Rare Dis ; 17(1): 191, 2022 05 12.
Artículo en Inglés | MEDLINE | ID: mdl-35549752

RESUMEN

Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases-specifically, rare diseases. However, the application and benefit of such technologies remain inequitable globally. There is a clear and urgent need to provide genomic sequencing to people across the global population, including people living in under-resourced areas and/or underrepresented populations. Financial considerations are the most obvious barriers to the adoption of genomic medicine, yet there are many other factors that are not so obvious, such as geography, language, communication, and culture. Herein, we use the lens of rare diseases and focus on firstly, selected socio-cultural factors, and in particular stigma; and secondly, empowering community factors such as education, advocacy and connectivity amongst people living with rare diseases globally. These are critical areas of need and opportunity if genomic medicine is to achieve equitable and global adoption in the patient best-interest across low- middle- and high-income country health systems. Furthermore, we touch on specific child health aspects and how they can point towards opportunities to build on specific infrastructures.


Asunto(s)
Medicina Genómica , Enfermedades Raras , Niño , Pruebas Genéticas , Humanos , Enfermedades Raras/genética
5.
Orphanet J Rare Dis ; 17(1): 168, 2022 04 18.
Artículo en Inglés | MEDLINE | ID: mdl-35436894

RESUMEN

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduous attention to the unmet needs of this patient community is crucial to prevent potential iatrogenic harm and optimize care for individuals with FOP. OBJECTIVE: To gather international expert opinion and real-world experience on the key challenges for individuals with FOP and their families, highlight critical gaps in care, communication, and research, and provide recommendations for improvement. METHODS: An international group of expert clinicians, patients and patient advocates, caregivers and representatives from the international FOP community participated in a virtual, half-day meeting on 22 March 2021 to discuss the key unmet needs of individuals with FOP. RESULTS: Individuals with FOP often face the frustration of long diagnostic journeys, the burden of self-advocacy and the navigation of novel care pathways. Globally, patients with FOP are also confronted with inequities in access to diagnosis and specialist care, and consequently, unequal access to registries, clinical trials, and essential support from patient associations. Organizations such as the International FOP Association, the International Clinical Council on FOP, and national FOP organizations work to provide information, facilitate access to expert clinical guidance, nurture patient empowerment, fund FOP research and/or foster meaningful collaborations with the research community. The non-profit Tin Soldiers Global FOP Patient Search program aims to identify and provide a pathway to diagnosis and care for individuals with FOP, particularly in underserved communities. Such global initiatives and the increasingly widespread use of telemedicine and digital platforms offer opportunities to improve vital access to care and research. CONCLUSIONS: This multi-stakeholder perspective highlights some of the unmet needs of individuals with FOP and their families. Regional and international organizations play an important role in improving the quality of life of those they reach in the global FOP community. However, globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practice in care, support, and clinical research. Medical writing support was industry-sponsored.


Asunto(s)
Miositis Osificante , Osificación Heterotópica , Humanos , Internacionalidad , Miositis Osificante/diagnóstico , Calidad de Vida , Sistema de Registros
6.
Hum Genet ; 130(3): 393-401, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21643981

RESUMEN

Historically, large-scale longitudinal genomic research studies have not returned individual research results to their participants, as these studies are not intended to find clinically significant information for individuals, but to produce 'generalisable' knowledge for future research. However, this stance is now changing. Commentators now argue that there is an ethical imperative to return clinically significant results and individuals are now expressing a desire to have them. This shift reflects societal changes, such as the rise of social networking and an increased desire to participate in medical decision-making, as well as a greater awareness of genetic information and the increasing ability of clinicians to use this information in health care treatment. This paper will discuss the changes that have prompted genomic research studies to reconsider their position and presents examples of projects that are actively engaged in returning individual research results.


Asunto(s)
Bancos de Muestras Biológicas , Acceso de los Pacientes a los Registros , Investigación/tendencias , Bancos de Muestras Biológicas/tendencias , Predicción , Privacidad Genética , Opinión Pública , Sistema de Registros
7.
Cancers (Basel) ; 13(3)2021 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-33540773

RESUMEN

Rapid and continuing advances in biomarker testing are not being matched by uptake in health systems, and this is hampering both patient care and innovation. It also risks costing health systems the opportunity to make their services more efficient and, over time, more economical. The potential that genomics has brought to biomarker testing in diagnosis, prediction and research is being realised, pre-eminently in many cancers, but also in an ever-wider range of conditions-notably BRCA1/2 testing in ovarian, breast, pancreatic and prostate cancers. Nevertheless, the implementation of genetic testing in clinical routine setting is still challenging. Development is impeded by country-related heterogeneity, data deficiencies, and lack of policy alignment on standards, approval-and the role of real-world evidence in the process-and reimbursement. The acute nature of the problem is compellingly illustrated by the particular challenges facing the development and use of tumour agnostic therapies, where the gaps in preparedness for taking advantage of this innovative approach to cancer therapy are sharply exposed. Europe should already have in place a guarantee of universal access to a minimum suite of biomarker tests and should be planning for an optimum testing scenario with a wider range of biomarker tests integrated into a more sophisticated health system articulated around personalised medicine. Improving healthcare and winning advantages for Europe's industrial competitiveness and innovation require an appropriate policy framework-starting with an update to outdated recommendations. We show herein the main issues and proposals that emerged during the previous advisory boards organised by the European Alliance for Personalized Medicine which mainly focus on possible scenarios of harmonisation of both oncogenetic testing and management of cancer patients.

8.
Biomed Hub ; 5(2): 1-11, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33564657

RESUMEN

Since developments are global in the healthcare arena, more should be done to align EU and other big markets' regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders' involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

9.
Biomed Hub ; 5(3): 182-223, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33564664

RESUMEN

Rapid and continuing advances in biomarker testing are not being matched by take-up in health systems, and this is hampering both patient care and innovation. It also risks costing health systems the opportunity to make their services more efficient and, over time, more economical. This paper sets out the potential of biomarker testing, the unfolding precision and range of possible diagnosis and prediction, and the many obstacles to adoption. It offers case studies of biomarker testing in breast, ovarian, prostate, lung, thyroid and colon cancers, and derives specific lessons as to the potential and actual use of each of them. It also draws lessons about how to improve access and alignment, and to remedy the data deficiencies that impede development. And it suggests solutions to outstanding issues - notably including funding and the tangled web of obtaining reimbursement or equivalent coverage that Europe's fragmented health system implies. It urges a European evolution towards an initial minimum testing scenario, which would guarantee universal access to a suite of biomarker tests for the currently most common conditions, and, further into the future, to an optimum testing scenario in which a much wider range of biomarker tests would be introduced and become part of a more sophisticated health system articulated around personalised medicine. For exploiting genomics to the full, it argues the need for a new policy framework for Europe. Biomarker testing is not an issue that can be treated in isolation, since the purpose of testing is to improve health. Its use is therefore always closely linked to specific health challenges and needs to be viewed in the broader policy context in the EU and more widely. The paper is the result of extensive engagement with experts and decision makers to develop the framework, and consequently represents a wide consensus of views on how healthcare systems should respond from push and pull factors at local, national and cross-border and EU level. It contains strong views and clear recommendations springing from the convictions of patients, clinicians, academics, medicines authorities, HTA bodies, payers, the diagnostic, pharmaceutical and ICT industries, and national policy makers.

10.
Semin Fetal Neonatal Med ; 13(2): 109-12, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18267309

RESUMEN

The possibility of the application of reliable non-invasive prenatal diagnosis to clinical practice, and its likely availability as a tool for routine antenatal screening, is an important and exciting development that will be of interest to women and couples - especially where there is a known risk arising from family history, or some other source, of having a baby with a serious, disabling or life-limiting condition. Managing the introduction of this new technology will require attention to the understanding and perceptions of women, couples and the wider society, as well as to the clinical, scientific, technical and logistic issues that will inevitably arise.


Asunto(s)
Enfermedades Fetales/diagnóstico , Enfermedades Genéticas Congénitas/diagnóstico , Diagnóstico Prenatal/psicología , Eugenesia , Femenino , Humanos , Embarazo , Diagnóstico Prenatal/ética , Opinión Pública , Reino Unido
11.
Eur J Hum Genet ; 15(10): 1012-22, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17568389

RESUMEN

The aim of this study was to assess the quality of written information for patients and families about genetic testing, from a range of European countries. Written information relating to genetic testing for five conditions was gathered from genetic departments across seven European countries. Written information for each condition from each country was randomly chosen for assessment. Fourteen key issues had been identified by a number of pre-existing tools (in particular the DISCERN-Genetics tool) as being important for inclusion when developing or assessing material relating to genetic testing. Fifty pieces in total were assessed for the inclusion or omission of key issues. Although the majority of information discussed issues relating to the condition including background and effect (n=48, 96%), treatment and management (n=37, 74%) and heredity and risk (n=49, 98%), only half the information discussed where to obtain additional information and support (n=25, 50%). Less than half the information discussed what happens after the test (n=15, 30%), patient rights (n=12, 24%) and shared decision making (n=12, 24). Benefits were more likely to be included (n=41, 82%) than any risks involved (n=24, 48%). The issue discussed least frequently was the possible psychological and social effects of genetic testing (n=9, 18%). Pre-written leaflets tended to provide a more comprehensive discussion of the issues surrounding genetic testing than personal letters did and should therefore routinely be available to patients alongside personal letters. Written information should include risks and limitations of testing as well as discussion of the psychological and social aspects of genetic testing.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Educación del Paciente como Asunto , Revelación , Europa (Continente) , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Folletos , Factores de Riesgo
13.
New Bioeth ; 23(1): 49-54, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28517990

RESUMEN

Personalised, or stratified, medicine is creating opportunities for the development of targeted therapies for many hitherto unmet clinical needs. For patients and families this is a cause for optimism. But it is unlikely that these novel therapies will provide complete cures. Rather they will address some but not all symptoms of a condition. In such circumstances, early engagement with patients and families will ensure that developments are targeted at those aspects of a condition which really matter, not just those that are easy to count. This will make the development process more efficient, and improve the likelihood that patients will be able to access therapies if the development process is successful.


Asunto(s)
Participación del Paciente , Medicina de Precisión , Humanos , Riesgo
14.
Biomed Hub ; 2(Suppl 1): 191-201, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-31988949

RESUMEN

Innovation is a major pillar in bringing new, targeted medicines to patients. In the health arena, this means the translation of knowledge into what we can call "value." The latter covers the value to patients but must also take into account value to healthcare systems, society and, of course, manufacturers. The EU has recognised that innovations in healthcare can contribute to the health and well-being of citizens and patients through access to new products, services and treatments with added value. It is also aware that in order to stimulate development, there is a need to facilitate the translation of scientific advances into innovative medicinal products that meet regulatory standards, accelerate patients' access to new therapies and are affordable to Member States' health systems. Early dialogue between technology developers, regulators, health technology assessment and, where relevant, pricing bodies will promote innovation and quicker access to medicines at affordable prices, for the benefit of patients. But while uncertainties in healthcare policy still exist, a request by the European Ombudsman to the European Medicines Agency to provide more information about its early dialogue procedures questions the above "early dialogue" principal. It raises the issue of what the EU aims to do with its health regulation in bringing innovation to the patient. Is this added uncertainty about the hereto trusted role of the EMA a welcome development? Not necessarily.

15.
Biomed Hub ; 2(Suppl 1): 26-28, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-31988927

RESUMEN

Healthcare in the EU would benefit from facilitating partnerships and innovation networks. These would encourage cross-disciplinary and cross-border collaboration in research and development using an "open innovation" approach. The goal would be to create and stimulate interface structures between academia-clinicians-industry in order to expedite research-based and patient-centred discoveries. This would improve tailored medicines and speed up patient access. Such a scenario would also allow for new levels of trust between the research community and participants and patients, the elimination of silos of single-use data and removal of country-specific gridlocks plus equal treatment of all health research data, including genetic information. Europe needs to encourage a systematic early dialogue between innovators, patients and decision-makers throughout all regulatory steps to provide guidance and clarity so as to avoid a disruptive scenario. Silos, as the authors will show, can often be counter-productive and stifle the appetite for innovation.

16.
J Community Genet ; 8(2): 147-150, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28289980

RESUMEN

Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care. Partners include patient representatives and specialists in genetics and primary care from six countries. Here, we report the progress and challenges involved in creating a European online educational program in genetics.

17.
Sci Transl Med ; 9(397)2017 07 05.
Artículo en Inglés | MEDLINE | ID: mdl-28679655

RESUMEN

Commercial promotion of unsupported therapeutic uses of stem cells is a global problem that has proven resistant to regulatory efforts. Here, we suggest a coordinated approach at the national and international levels focused on engagement, harmonization, and enforcement to reduce the risks associated with direct-to-consumer marketing of unproven stem cell treatments.


Asunto(s)
Mercadotecnía , Trasplante de Células Madre/economía , Células Madre/citología , Humanos , Control Social Formal , Trasplante de Células Madre/legislación & jurisprudencia
18.
Eur J Hum Genet ; 14(11): 1179-88, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-16868557

RESUMEN

Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Down's syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington's disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions. The information medium could be written, electronic, CD, audio or video. The quality criteria were tested iteratively (using the weighted kappa statistic) for the level of agreement between users applying successive drafts of the criteria to different samples of information. The final set of criteria consisted of 19 questions plus an overall quality rating. Chance corrected agreement (weighted kappa) among the appraisers for the overall quality rating was 0.61 (0.60-0.62). The criteria cover the scope of the information resources, information on the condition, the test procedure and results, decision making, and the reliability of the information. The DISCERN-Genetics criteria will guide the production and appraisal of information produced for the public, and will facilitate the involvement of the public in decisions around genetic screening and testing.


Asunto(s)
Servicios Genéticos/normas , Pruebas Genéticas/normas , Servicios de Información/normas , Femenino , Humanos , Difusión de la Información , Masculino , Control de Calidad , Encuestas y Cuestionarios
19.
JAMA Pediatr ; 170(8): 790-3, 2016 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-27366873

RESUMEN

As the Sustainable Development Goals are adopted by United Nations member states, children with congenital disorders remain left behind in policies, programs, research, and funding. Although this finding was recognized by the creation and endorsement of the 63rd World Health Assembly Resolution in 2010 calling on United Nations member states to strengthen prevention of congenital disorders and the improvement of care of those affected, there has been little to no action since then. The Sustainable Development Goals call for the global health and development community to focus first and foremost on the most vulnerable and those left behind in the Millennium Development Goal era. To maximize the opportunity for every woman and couple to have a healthy child and to reduce the mortality and severe disability associated with potentially avoidable congenital disorders and their consequences for the children affected, their families and communities, and national health care systems, we propose priority measures that should be taken urgently to address this issue.


Asunto(s)
Cuidado del Niño , Anomalías Congénitas/prevención & control , Niño , Anomalías Congénitas/rehabilitación , Recolección de Datos/normas , Femenino , Contaminación de Alimentos/prevención & control , Educación en Salud , Prioridades en Salud , Humanos , Embarazo , Complicaciones del Embarazo/prevención & control , Atención Prenatal/normas , Mejoramiento de la Calidad , Sistema de Registros , Medición de Riesgo , Apoyo Social
20.
Eur J Hum Genet ; 23(6): 729-35, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25248395

RESUMEN

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.


Asunto(s)
Servicios de Laboratorio Clínico/legislación & jurisprudencia , Pruebas Genéticas/legislación & jurisprudencia , Servicios de Laboratorio Clínico/ética , Servicios de Laboratorio Clínico/normas , Consenso , Europa (Continente) , Pruebas Genéticas/ética , Pruebas Genéticas/normas , Responsabilidad Social
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