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Introduction: Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death. As genetic therapies aim to fix or replace defective genes, they are considered the most promising treatment for rare genetic diseases. Yet, as these therapies are still under development, it is still unclear whether they will be successful in treating these diseases. This study aims to address this gap by assessing researchers' opinions on the future of genetic therapies for the treatment of rare genetic diseases. Methods: We conducted a global cross-sectional web-based survey of researchers who recently authored peer-reviewed articles related to rare genetic diseases. Results: We assessed the opinions of 1430 researchers with high and good knowledge about genetic therapies for the treatment of rare genetic diseases. Overall, the respondents believed that genetic therapies would be the standard of care for rare genetic diseases before 2036, leading to cures after this period. CRISPR-Cas9 was considered the most likely approach to fixing or replacing defective genes in the next 15 years. The respondents with good knowledge believed that genetic therapies would only have long-lasting effects after 2036, while those with high knowledge were divided on this issue. The respondents with good knowledge on the subject believed that non-viral vectors are more likely to be successful in fixing or replacing defective genes in the next 15 years, while most of the respondents with high knowledge believed viral vectors would be more successful. Conclusion: Overall, the researchers who participated in this study expect that in the future genetic therapies will greatly benefit the treatment of patients with rare genetic diseases.
A global survey of researchers on the future of genetic therapies for rare genetic diseases Rare genetic diseases are caused by defective genes that result from one or more mutations in the genome. Today, the therapeutic options for these diseases are limited, and there are approved treatments for about 5% of them. In the future, genetic therapies (a group of techniques developed to correct defective genes) are expected to revolutionize the treatment of rare genetic diseases. Although promising, most of these therapies are currently under development and have a long way to go before their efficacy and safety can be proved. The uncertainty surrounding this topic therefore means the success of genetic therapies in treating or curing rare genetic diseases is not yet assured. To address this knowledge gap, we surveyed 1430 researchers working in rare genetic diseases about the future of genetic therapies for the treatment of these diseases over the next 15 years. Most of them expected gene therapies to be the standard of care for rare genetic diseases before 2036 and to be able to cure them after this date. CRISPR-Cas9 was felt to be the gene editing approach that was most likely to succeed in fixing or replacing defective genes in the next 15 years. The respondents with high knowledge about gene therapies for the treatment of rare diseases believed gene therapies would have long-lasting effects before 2036, while those with good knowledge expected this to be the case only after 2036. The former believed in viral vectors and the latter in non-viral vectors to fix or replace defective genes in the next 15 years.
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OBJECTIVE: To identify factors associated with oral health care services for individuals with and without rare genetic diseases. MATERIALS AND METHOD: A cross-sectional study was undertaken, with 140 individuals paired by sex and age (70 with rare genetic diseases and 70 without), aged between 3 and 27 years, and their parents. The sample was selected from two reference hospitals for patients with rare genetic diseases in southeastern Brazil. The parents completed a questionnaire on individual aspects and their child's medical/dental history. Participants who did and did not suffer from rare genetic diseases were examined for dental caries, malocclusion, dental anomalies, and oral hygiene. The theoretical model Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to dental care. Descriptive analyses and non-matched and matched logistic regression models (p < 0.05) were carried out. RESULTS: The chance of individuals without rare genetic disease having access to oral health care service was 5.32 times higher (95% CI 2.35-12.01) than those with such conditions. Individuals who had not suffered upper respiratory tract infections had a 3.16 times greater chance of being in the group with access to oral health care service (95% CI 1.45-6.90). CONCLUSION: Individuals with no rare genetic diseases and no history of upper respiratory tract infections had a greater chance of belonging to the group of individuals with access to a dental service. Individuals with rare genetic diseases have less access to oral health care.
Assuntos
Cárie Dentária , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Atenção à Saúde , Humanos , Saúde Bucal , Doenças Raras , Adulto JovemRESUMO
O artigo avalia a hipótese de se a judicialização de medicamentos para o tratamento das mucopolissacaridoses no Brasil seria uma ação das elites econômicas. Debatem-se estudos prévios que defendem a tese da judicialização pelas elites em outros medicamentos. Discute-se, a metodologia desses estudos e as inferências dela derivadas e o respaldo empírico dessa tese no caso de um dos medicamentos judicializados de mais alto custo para o SUS. Foram analisados os 196 processos julgados entre fevereiro de 2006 e dezembro de 2010 que determinam a provisão gratuita dos medicamentos para mucopolissacaridoses pelo Ministério da Saúde. Há evidências de que os custos advocatícios sejam financiados por entidades interessadas nos resultados da judicialização, como as empresas distribuidoras ou indústrias farmacêuticas, de que pode haver migração dos pacientes para diagnóstico e tratamentos em centros universitários de referência para a inovação médica no país, e de que a opção por serviços públicos se dá por sua capacidade técnica e científica superior à de outras instituições. Logo, a advocacia privada, indicadores de exclusão social do local de residência dos pacientes e uso de serviços públicos não são informações de classe que corroborem ou refutem a tese da judicialização pelas elites.
This paper evaluates the hypothesis that the judicialization of medicine for mucopolysaccharidosis in Brazil is an action promoted by economic elites. Previous studies upholding the thesis of judicialization by elites in the case of other types of medication that are more costly for the Unified Health Service are discussed. An analysis of all 196 processes containing information about judicial processes brought to court between February 2006 and December 2010 that ended by determining that the State should provide such medication free of charge to patients was conducted. There is evidence that attorneys' fees were covered by entities interested in the results of judicialization, such as the distributors or pharmaceutical industries. Patients may also be migrating for diagnosis and treatment to university centers that are a benchmark for medical innovation in the country, as the option for public health services is related to their higher technical and scientific capacity. Therefore, the resort to private lawyers, indicators of social exclusion based on the address of patients and the use of public health services, are not adequate class information to corroborate or refute the thesis of judicialization by the elites.