RESUMO
Direct-to-consumer (DTC) commercial companies offer genetic tests that are presented as allowing individuals the opportunity to increase their capacities to be in charge of their own healthcare managements. DTC companies deny performing medical tests, yet they provide data based on sequencing multigene panel or whole exome. This contradiction allows these companies to escape the requirements of a regulated medical practice that guarantees the quality of the tests, as well as the information and support for tested individuals. Herein, we illustrate the lack of such requirements by analysing the bad experience of a young man who dealt with DTC health genetic testing companies. There is an emergency for DTC testing to be either deprived of any medically relevant information, or carried out in a legally regulated medical framework.
Assuntos
Erros de Diagnóstico/prevenção & controle , Triagem e Testes Direto ao Consumidor/normas , Indústria Farmacêutica/normas , Testes Genéticos/normas , Disseminação de Informação/ética , Neoplasias/diagnóstico , Análise de Sequência de DNA/normas , Adulto , Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Indústria Farmacêutica/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Genoma Humano , Humanos , Achados Incidentais , Disseminação de Informação/legislação & jurisprudência , Masculino , Neoplasias/genética , Fatores de RiscoRESUMO
The direct-to-consumer genetic testing (DTC-GT) market has been developing for about twenty years now, raising various debates, even controversies. But what about the regulation of these so-called "innovative" devices, but whose medical status is ambiguous? A first regulatory aspect is depending on the market itself, since the latter is currently subjected to a strong structuring process. A second regulatory aspect, more classical, is the legal one. While the DTC-GT status has long been unclear on European scale, a new text (a Regulation, not a Directive) is modifying the situation. It encourages regulation "by the market" rather than "by the medical profession", which does not imply that the latter will have no (indirect) impact on the DTC-GT market.
TITLE: Les tests génétiques en libre accès - Régulation par le marché, ou régulation médicale ? ABSTRACT: Le marché des auto-tests génétiques se développe depuis une vingtaine d'années, non sans soulever des débats, voire des controverses. Qu'en est-il de la régulation de ces dispositifs dits « innovants ¼, mais dont le statut médical est ambigu ? Un premier aspect régulatoire vient du marché lui-même, puisqu'il est en cours de forte structuration. Un second aspect régulatoire relève plus classiquement du juridique. Alors que le statut des auto-tests a longtemps manqué de clarté à l'échelle européenne, un nouveau texte (un Règlement, et non une Directive) change la situation. Il encourage une régulation « par le marché ¼, plutôt que « par la profession médicale ¼, ce qui n'implique pas que cette dernière n'aura aucun impact (indirect) sur le marché des auto-tests.
Assuntos
Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Setor de Assistência à Saúde/legislação & jurisprudência , Legislação Médica , Triagem e Testes Direto ao Consumidor/ética , Triagem e Testes Direto ao Consumidor/métodos , Triagem e Testes Direto ao Consumidor/normas , Europa (Continente) , União Europeia , Aconselhamento Genético , Testes Genéticos/economia , Testes Genéticos/ética , Testes Genéticos/métodos , Regulamentação Governamental , Política de Saúde/legislação & jurisprudência , Humanos , Legislação Farmacêutica , Marketing de Serviços de Saúde/legislação & jurisprudênciaRESUMO
At present, specialized companies offering genetic testing services without the involvement of clinicians are growing; this development is a direct consequence of the significant decrease in genotyping and sequencing costs. Online companies offer predictions about the risk of developing complex diseases during one's life course, and they offer suggestions for personal lifestyle. Several companies have been created that provide nutrigenetics services; these companies suggest dietary indications-a central issue in the prevention and etiopathogenesis of specific diseases-based on one's personal genetic background. Dietary patterns are defined on the basis of a limited set of genetic markers. In this article, we analyze the online nutrigenetics services offered by 45 companies worldwide, to obtain an overall picture of the costs, the types of nutritional traits considered and the level of scientific precision of the services proposed. Our analysis clearly highlights the need for specific guidelines, in order to ensure a set of minimum quality standards for the nutrigenetics services offered to the customer.
Assuntos
Triagem e Testes Direto ao Consumidor/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Nutrigenômica/estatística & dados numéricos , Triagem e Testes Direto ao Consumidor/economia , Triagem e Testes Direto ao Consumidor/normas , Testes Genéticos/economia , Testes Genéticos/normas , Guias como Assunto , Humanos , Nutrigenômica/economia , Nutrigenômica/normasRESUMO
Citizens can now order their own laboratory investigations. Self-testing is in line with increasing patient empowerment and in conflict with existing routines in medicine where all tests are ordered by the physician. Several challenges have to be faced by laboratory medicine to secure the quality and increase the medical benefits of patient-initiated diagnostics.
Assuntos
Serviços de Laboratório Clínico , Triagem e Testes Direto ao Consumidor , Serviços de Laboratório Clínico/economia , Serviços de Laboratório Clínico/legislação & jurisprudência , Serviços de Laboratório Clínico/organização & administração , Serviços de Laboratório Clínico/normas , Triagem e Testes Direto ao Consumidor/economia , Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Triagem e Testes Direto ao Consumidor/normas , Humanos , Participação do Paciente , AutocuidadoRESUMO
AIMS: In June 2016, Korea permitted direct-to-consumer genetic testing (DTC-GT) on 42 genes. However, both the market and industry have not yet been fully activated. Considering the aforementioned context, this study provides important insights. METHODS: The Korean DTC-GT policy assessment is based on consumer preference analysis using a discrete choice experiment. In August 2016, a web-based survey was conducted to collect data from 1,200 respondents. RESULTS: The estimation results show that consumers prefer a DTC-GT product that is cheap, tests various items or genes, offers accurate test results, and guarantees the confidentiality of all information. However, consumers are not entirely satisfied by current DTC-GT products due to the existence of insufficient and/or inadequate policies. First, the permitted testing of 42 genes is insufficient to satisfy consumers' curiosity regarding their genes. Second, the accuracy of the DTC-GT products has not been fully verified, assessed, and communicated to consumers. Finally, regulatory loopholes that allow information leaks in the DTC-GT process can occur. CONCLUSIONS: These findings imply that DTC-GT requires an improvement in government policy-making criteria and the implementation of practical measures to guarantee test accuracy and genetic information.
Assuntos
Comportamento do Consumidor , Triagem e Testes Direto ao Consumidor/provisão & distribuição , Testes Genéticos/estatística & dados numéricos , Adulto , Confidencialidade , Triagem e Testes Direto ao Consumidor/economia , Triagem e Testes Direto ao Consumidor/normas , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Política de Saúde , Humanos , Masculino , Marketing de Serviços de Saúde/estatística & dados numéricos , Pessoa de Meia-Idade , República da Coreia , Inquéritos e Questionários , Adulto JovemRESUMO
The declining cost of DNA sequencing has been accompanied by a proliferation of companies selling 'direct-to-consumer genetic testing' (DTC-GT) services. Many of these are marketed online as tools for enabling citizens to make more informed decisions about their health, wellness and lifestyle. We assessed the 'information for consumers' provided by these companies at the prepurchase stage, which could influence initial decisions to part with money, data or tissue samples. A scoping exercise revealed 65 DTC-GT companies advertising their services online to consumers in the United Kingdom, of which 15 met our inclusion criteria. We benchmarked their consumer information against the good practice principles developed by the UK Human Genetics Commission (HGC). No provider complied with all the HGC principles and overall levels of compliance varied considerably. Although consent for testing was discussed by all but one company, information about data reuse for research or other purposes was often sparse and consent options limited or unclear. Most did not provide supplementary support services to help users better understand or cope with the implications of test results. We provide recommendations for updating the preconsumer transparency aspects of the HGC guidelines to ensure their fitness-for-purpose in this rapidly changing market. We also recommend improving coordination between relevant governance bodies to ensure minimum standards of transparency, quality and accountability. Although DTC-GT has many potential benefits, close partnership between consumers, industry and government, along with interdisciplinary science input, are essential to ensure that these innovations are used ethically and responsibly.
Assuntos
Publicidade/normas , Triagem e Testes Direto ao Consumidor/normas , Testes Genéticos/normas , Publicidade/economia , Publicidade/legislação & jurisprudência , Publicidade/métodos , Triagem e Testes Direto ao Consumidor/economia , Triagem e Testes Direto ao Consumidor/ética , Testes Genéticos/economia , Testes Genéticos/ética , Internet/ética , Internet/legislação & jurisprudência , Internet/normas , Reino UnidoRESUMO
Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing. It then outlines how DTC companies analyze DNA and how their techniques benefit researchers and drug developers. Then, after an overview of the current partnerships between DTCs and drug developers, it examines concerns about privacy and cost brought up by these partnerships. The article concludes by contrasting the enormous positive potential of DTC-pharma relationships and their concomitant dangers, especially to consumer privacy and cost to the healthcare system.
Assuntos
Triagem e Testes Direto ao Consumidor/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Triagem e Testes Direto ao Consumidor/métodos , Triagem e Testes Direto ao Consumidor/normas , Indústria Farmacêutica/tendências , Testes Genéticos/métodos , Testes Genéticos/normas , Humanos , Produção de Droga sem Interesse Comercial/métodos , Doenças Raras/genética , Estados Unidos , United States Food and Drug AdministrationRESUMO
Introduction Direct-to-consumer (DTC) teledermatology is radically changing the way patients obtain dermatological care. Now, with a few clicks, patients can obtain dermatological consultations and prescription medications without a prior physician-patient relationship. To analyse all DTC teledermatology services available to US patients. Methods We performed Internet searches to identify DTC teledermatology services available through Internet webpages or through smartphone applications. For each service, the scope of care provided, cost, wait times, prescription policies and other relevant information were recorded. Results Twenty-two DTC teledermatology services are available to US patients in 45 states. Six (27%) services offer care from international physicians. Sixteen (73%) services allow patients to seek care for any reason, while six (27%) limit care to acne or anti-aging. The median reported response time for DTC teledermatology services is 48 hours from the time of patient request. The median consultation fee for companies providing care from US board-certified physicians is US$59. Across all services, consultation fees range from US$1.59 to US$250. Conclusions DTC teledermatology services are readily available to patients in most states. These services may reduce the cost of patient visits, expand access to care and increase patient convenience. However, the presence of services staffed by physicians who are not US board-certified, as well as the use of incautious language regarding prescription medications, is concerning.
Assuntos
Dermatologia/organização & administração , Triagem e Testes Direto ao Consumidor/organização & administração , Dermatopatias/terapia , Telemedicina , Certificação/normas , Atenção à Saúde/economia , Atenção à Saúde/métodos , Atenção à Saúde/normas , Dermatologia/economia , Triagem e Testes Direto ao Consumidor/economia , Triagem e Testes Direto ao Consumidor/normas , Honorários e Preços , Custos de Cuidados de Saúde , Acessibilidade aos Serviços de Saúde/organização & administração , Humanos , Encaminhamento e Consulta/economia , Dermatopatias/diagnóstico , Telemedicina/economia , Telemedicina/normas , Estados Unidos , Listas de EsperaAssuntos
Aneurisma da Aorta Abdominal/diagnóstico , Triagem e Testes Direto ao Consumidor/normas , Benefícios do Seguro/normas , Seguro Saúde/normas , Programas de Rastreamento/normas , Comunicação , Triagem e Testes Direto ao Consumidor/economia , Prática Clínica Baseada em Evidências , Humanos , Benefícios do Seguro/economia , Seguro Saúde/economia , Programas de Rastreamento/economia , Programas de Rastreamento/métodos , Relações Médico-Paciente , Guias de Prática Clínica como AssuntoRESUMO
The sequencing of the human genome has seen the emergence of the direct-to-consumer (DTC) genetic-testing market, which allows individuals to obtain information about their genetic profile and its many health and lifestyle implications. Genetics play an important role in the development of many eye diseases, however, little information is available describing the influence of the DTC industry in ophthalmology. In this review, we examined DTC companies providing genetic test products for eye disease. Of all eye conditions, the majority of DTC companies provided susceptibility testing or risk assessment for age-related macular degeneration (AMD). For the 15 companies noted to offer products, we found considerable variation in the cost, scope and clarity of informational content of DTC genetic testing for ophthalmic conditions. The clinical utility of these tests remains in question, and the American Academy of Ophthalmology recommendations against routine testing for many conditions probably still apply.