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2.
Eur J Med Genet ; 68: 104931, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38431090

RESUMO

This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individual interviews with 34 healthcare professionals working in medical genetics services across Portugal. The data were analyzed thematically, resulting in three primary themes: i) informing patients about the risk to relatives; ii) ensuring patient confidentiality; and iii) encouraging family communication. Participants believed it is their responsibility to inform patients about the genetic risk to their relatives, with patients bearing a moral responsibility to convey this information. They explained that the principles of medical confidentiality of the patient take precedence over any direct responsibility to patients' relatives. Treating personal and familial genetic information separately was perceived as challenging to implement and potentially problematic. While most participants reported encouraging patients to inform their relatives, the extent to which they facilitate this communication varies and is also constrained by lack of resources and concerns about complying with legal requirements. Some participants called for clearer national guidelines. These results contribute for ongoing discussions regarding the scope of practice and the roles and responsibilities of healthcare professionals in appropriately cascading pertinent information to at-risk relatives.


Assuntos
Confidencialidade , Revelação , Humanos , Família , Comunicação , Atenção à Saúde
3.
J Community Genet ; : 1-3, 2022 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-35873602

RESUMO

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care providers. Main findings highlighted the key role played by the local association in psychosocial and healthcare for MJD patients and families, and the adverse effects on their care following the onset of the COVID-19 pandemic. In particular, hindered access to the day-care centre increased isolation and had a negative impact on mental health and disease progression. For persons with a progressive and severe neurological disease, there is no "back to normal." Future restrictive measures ensuing need to be accompanied by a careful definition of daily care routines for patients.

4.
J Community Genet ; 13(4): 459-461, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35851653

RESUMO

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care providers. Main findings highlighted the key role played by the local association in psychosocial and healthcare for MJD patients and families, and the adverse effects on their care following the onset of the COVID-19 pandemic. In particular, hindered access to the day-care centre increased isolation and had a negative impact on mental health and disease progression. For persons with a progressive and severe neurological disease, there is no "back to normal." Future restrictive measures ensuing need to be accompanied by a careful definition of daily care routines for patients.

5.
J Aging Stud ; 61: 101027, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35654538

RESUMO

BACKGROUND AND OBJECTIVES: Older generations play relevant roles in the well-being of younger generations, namely by influencing their health management. Literature regarding the influence in families affected by highly incapacitating hereditary diseases, such as Huntington's disease (HD), however, is scarce. This study addresses the intergenerational flow of health-related roles, from older to younger generations in families with HD, that is, who plays what roles towards whom while considering age, gender, kinship and genetic status in both generations. RESEARCH DESIGN AND METHODS: This qualitative exploratory study adopted the critical incidents technique, applied through semi-structured interviews. Ten participants reported 189 critical incidents. Thematic analysis was applied to transcript data from the interviews to glean common themes. RESULTS: The main findings suggested two main roles performed by older generations: "shaping awareness" and "influencing management". The intergenerational flow involved mainly women, in contiguous generations (usually mother-to-daughter); it was more frequent from either older non-biological or affected relatives aged ≥60 years towards younger members aged 20-29 years, who were still at-risk or non-carriers. DISCUSSION AND IMPLICATIONS: Older generations are relevant influencers in the health management of their younger relatives and they create illness-related legacies. The results are relevant for healthcare services and professionals, as they bring further insight into how older relatives may be involved in genetic counselling, as well as insight into the provision of psychological support to affected families.


Assuntos
Doença de Huntington , Feminino , Humanos , Doença de Huntington/genética , Pesquisa Qualitativa
6.
Genet Med ; 24(5): 1120-1129, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35125311

RESUMO

PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data. We examined variation across the study countries and compared the responses of participants from other countries with those from the United States, which has been the subject of the majority of research on return of genomic results to date. RESULTS: There was substantial variation in the extent to which respondents reported being influenced by RoR. However, only respondents from Russia were more influenced than those from the United States, and respondents from 20 countries had lower odds of being partially or wholly influenced than those from the United States. CONCLUSION: There is substantial international variation in the extent to which the RoR may motivate people's intent to donate DNA or health data. The United States may not be a clear indicator of global attitudes. Participants' preferences for return of genomic results globally should be considered.


Assuntos
Atitude , Genômica , DNA , Genômica/métodos , Humanos , Intenção , Inquéritos e Questionários , Estados Unidos
7.
Genome Med ; 13(1): 92, 2021 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-34034801

RESUMO

BACKGROUND: Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. METHODS: We analyse the 'Your DNA, Your Say' online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle- and high-income countries, gathered in 15 languages. We examine how participants perceived the relative value of measures to demonstrate the trustworthiness of those using donated DNA and/or medical information. We examine between-country variation and present a consolidated ranking of measures. RESULTS: Providing transparent information about who will benefit from data access was the most important measure to increase trust, endorsed by more than 50% of participants across 20 of 22 countries. It was followed by the option to withdraw data and transparency about who is using data and why. Variation was found for the importance of measures, notably information about sanctions for misuse of data-endorsed by 5% in India but almost 60% in Japan. A clustering analysis suggests alignment between some countries in the assessment of specific measures, such as the UK and Canada, Spain and Mexico and Portugal and Brazil. China and Russia are less closely aligned with other countries in terms of the value of the measures presented. CONCLUSIONS: Our findings highlight the importance of transparency about data use and about the goals and potential benefits associated with data sharing, including to whom such benefits accrue. They show that members of the public value knowing what benefits accrue from the use of data. The study highlights the importance of locally sensitive measures to increase trust as genomic data sharing continues globally.


Assuntos
Genômica , Disseminação de Informação , Confiança , Genômica/métodos , Genômica/normas , Humanos , Sistemas On-Line , Pesquisa , Inquéritos e Questionários
8.
J Genet Couns ; 30(5): 1480-1490, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33893685

RESUMO

This paper explores ways in which genetic risk foregrounds forms of responsibility while dealing with reproduction. We analyzed individual and family semi-structured interviews (n = 35) with people at-risk for or affected by transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and Machado-Joseph disease (MJD), which are late-onset neurological diseases. Although generally considered as rare diseases, some areas in Portugal present the world's highest frequency for MJD and TTR-FAP. Thematic analysis of the data revealed that participants drew on various - sometimes ambivalent and competing - understandings of their genetic risk and their wish to have children. Some participants perceived the avoidance of genetic risk to be responsible behavior, while, for others, responsibility entailed accepting risks because they prioritized values such as parenthood, family relationships and the value of life, above any question of genetic disease. Some participants shared accounts that were fraught with ambivalence, repentance and guilt, especially when children were born before participants knew of their own or their partner's risk. Participants' accounts also showed they make continued efforts to see themselves as responsible persons and to appear responsible in the eyes of others. We discuss findings in the context of participants' negotiation between genetic risk and their sense of responsibility toward themselves and others; we conclude that "genetic responsibility" is present not only in accounts of those who chose not to have children but also in those who make an informed decision to have at-risk children.


Assuntos
Neuropatias Amiloides Familiares , Tomada de Decisões , Aconselhamento Genético , Doença de Machado-Joseph , Humanos , Portugal , Pré-Albumina , Reprodução , Fatores de Risco
9.
J Community Genet ; 12(3): 469-477, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33768463

RESUMO

Genetic diseases are a family matter, requiring adjustment and management from the family system, particularly when the diagnosis is recent. Literature has evidenced the importance of the role of older relatives in families dealing with some genetic diseases; however, knowledge is scarce regarding rare incurable genetic disorders, such as Huntington disease. Therefore, this exploratory qualitative study aims at describing how adjustment to Huntington disease occurs, from a family perspective, considering the roles performed by older generations, in the Portuguese context. It adopts the critical incidents technique, administered based on semi-structured interviews, and comprises 10 participants, aged 28 to 72 years (8 females), from seven families. Participants reported 130 critical incidents. The interviews were audiotaped, transcribed, and submitted to thematic analysis. Findings portray participants and their families as "beginners" in understanding and incorporating Huntington disease in their lives, due to recent diagnosis. In addition, data suggest that older relatives play two relevant roles in the creation of family narratives: (1) "shaping awareness about HD" (68 critical incidents) and (2) "influencing HD management" (62 critical incidents). Genetic counseling and family-centered interventions aimed at supporting families with a history of hereditary genetic diseases, should consider a narrative approach involving older relatives, since they have a great influence in sustaining family stories.

10.
Eur J Hum Genet ; 29(3): 365-377, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33223530

RESUMO

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.


Assuntos
Testes Genéticos/normas , Genética Humana/normas , Guias de Prática Clínica como Assunto , Sociedades Médicas/normas , Europa (Continente) , Testes Genéticos/ética , Genética Humana/ética , Genética Humana/organização & administração , Humanos
11.
Am J Hum Genet ; 107(4): 743-752, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32946764

RESUMO

Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.


Assuntos
Genoma Humano , Genômica/ética , Disseminação de Informação/ética , Análise de Sequência de DNA/ética , Confiança/psicologia , Adulto , América , Ásia , Austrália , Europa (Continente) , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Saúde Pública/ética , Inquéritos e Questionários
12.
Eur J Hum Genet ; 28(12): 1656-1661, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32523053

RESUMO

There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775del. To do so, they opened the website www.arfgerd.is . Individuals who received positive results via the website were offered genetic counselling (GC) at Landspitali in Reykjavik. At the end of May 2019, over 46.000 (19% of adults of Icelandic origin) had registered at the website and 352 (0.77%) received text message informing them about their positive results. Of those, 195 (55%) contacted the GC unit. Additionally, 129 relatives asked for GC and confirmatory testing, a total of 324 individuals. Various information such as gender and age, prior knowledge of the variant and perceived emotional impact, was collected. Of the BRCA2 positive individuals from the website, 74 (38%) had prior knowledge of the pathogenic variant (PV) in the family. The majority initially stated worries, anxiety or other negative emotion but later in the process many communicated gratitude for the knowledge gained. Males represented 41% of counsellees as opposed to less than 30% in the regular hereditary breast and ovarian (HBOC) clinic. It appears that counselling in clinical settings was more reassuring for worried counsellees. In this article, we describe one-year experience of the GC service to those who received positive results via the website. This experience offers a unique opportunity to study the public response of a successful method of the return of genetic results from research.


Assuntos
Proteína BRCA2/genética , Revelação , Triagem de Portadores Genéticos/estatística & dados numéricos , Aconselhamento Genético/psicologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Pacientes/psicologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Emoções , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/estatística & dados numéricos , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Humanos , Islândia , Internet , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente
13.
Eur J Hum Genet ; 28(9): 1210-1217, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32341469

RESUMO

Huntington disease (HD) is a rare progressive neurological disease, with no cure, inherited in an autosomal dominant fashion, significantly impacting family relations, health and well-being. So far, no studies have reported how Portuguese families deal with information about HD, from a transgenerational perspective. This qualitative study aims to fill in that gap, and focuses on how families acquire knowledge about HD and management of information within the family and in their social relationships. The study adopted semi-structured interviews with 10 participants from HD families. Interviews were transcribed and analysed thematically. Findings suggested that management of information in the family started with the search for a diagnosis in an affected family member. Diagnosis led to a process of "making sense of HD in the family", which activated a transgenerational process to understand HD in the family context, marked by improved awareness and different ways family members manage it (closedness and openness). These results should be relevant for health-care professionals, bringing further insight into the process of acquiring knowledge about HD, and highlighting the relevance of continued efforts for enhanced pre- and post-test counselling and ongoing support to the HD families.


Assuntos
Família/psicologia , Doença de Huntington/psicologia , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Idoso , Feminino , Aconselhamento Genético/psicologia , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Masculino , Pessoa de Meia-Idade , Portugal
15.
BIS, Bol. Inst. Saúde (Impr.) ; 21(2): 104-109, dez. 2020.
Artigo em Português | CONASS, Sec. Est. Saúde SP, SESSP-ISPROD, Sec. Est. Saúde SP, SESSP-ISACERVO | ID: biblio-1361565

RESUMO

O artigo discute a estratégia de Redução de Danos e sua relação com o campo de trabalho do redutor. Seguindo uma linha histórica se analisa as diversas faces deste encontro, desde a formação do redutor até o envolvimento emocional com os usuários. Tratando a questão de direitos como prioritário para a aproximação e empoderamento dos atingidos pelas ações de Redução de Danos. Levanta ainda questões de fundo das exigências dos usuários nos equipamentos públicos de saúde, chegando a ponto de se colocar a abstinência total como questão fundamental para a frequência naqueles espaços. Por fim concluir que, após um período de entusiasmo e apoio, atualmente tais ações estão fragilizadas e intimidadas, quase sem apoio governamental e que somente existem graças a ações da sociedade civil, com fina sintonia junto a usuários e seus entornos sociais.


Assuntos
Preparações Farmacêuticas , Redução do Dano , Direitos Humanos
16.
Eur J Hum Genet ; 27(12): 1763-1773, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31235869

RESUMO

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.


Assuntos
Autopsia , Morte Súbita Cardíaca/patologia , Testes Genéticos/normas , Cardiopatias/genética , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/prevenção & controle , União Europeia/organização & administração , Cardiopatias/mortalidade , Cardiopatias/patologia , Humanos , Miocárdio/patologia
17.
Acta Med Port ; 32(4): 295-304, 2019 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-31067424

RESUMO

INTRODUCTION: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington's disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of this study was to describe the profile of the population seeking pre-symptomatic testing, while also reflecting on the experience of conducting the protocol of multidisciplinary sessions since 1996. MATERIAL AND METHODS: We conducted a retrospective study and collected data from clinical records of consultands who requested pre-symptomatic testing at our centre in Porto (Portugal) during the first twenty years of practice (1996 - 2015). RESULTS: A total of 1446 records were reviewed. The most common reason for testing was to reduce uncertainty (41.7%). The rate of withdrawals before results disclosure was lower (16%) than reported in other international experiences with pre-symptomatic testing, while 45% of the consultands dropped out the protocol after learning the test results (73.5% of them were non-carriers). As far as the mutation carriers were concerned, 29.6% adhered to the protocol a year after test disclosure. Consultands that had learned about presymptomatic testing through healthcare professionals tended to adhere more to pre-symptomatic testing consultations. DISCUSSION: The profile of Portuguese consultands at risk for late-onset neurological diseases is similar to those reported in other international programs. The largest group in this data set was the one comprising the subjects at risk for familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene, and it is likely that therapeutic options for this condition may have influenced this result. Adherence to pre-symptomatic testing may change in the future since effective therapies are available (or given the fact that people think effective treatments are imminent). CONCLUSION: This study reflects the first comprehensive description of a Portuguese experience with pre-symptomatic testing for late onset neurological diseases. The development of innovative approaches to improve the consultands' experience with pre-symptomatic testing and their engagement in genetic departments is still a challenge in Portuguese genetics healthcare departments. A better coordination among primary care and genetics healthcare services is needed.


Introdução: Em 1995 foi iniciado em Portugal um protocolo nacional para o aconselhamento genético e teste pré-sintomático de doenças neurológicas de início tardio. Inicialmente, foi disponibilizado para indivíduos adultos em risco para a doença de Machado-Joseph e posteriormente estendido a outras ataxias hereditárias, doença de Huntington e polineuropatia amiloidótica familiar ATTR Val30Met. O objetivo deste estudo é descrever o perfil dos consultandos envolvidos no teste pré-sintomático desde 1996, e refletir no protocolo de sessões multidisciplinares. Material e Métodos: Realizámos um estudo retrospetivo com recolha de dados dos processos clínicos dos utentes que solicitaram teste pré-sintomático ao longo dos primeiros 20 anos do Centro de Genética Preditiva e Preventiva (1996 - 2015), localizado no Porto, Portugal. Resultados: Analisámos um total de 1446 processos clínicos; a principal motivação para a realização do teste pré-sintomático foi o alívio da incerteza (41,7%). A taxa de abandono do protocolo antes da comunicação dos resultados do pré-sintomático (16% dos casos) foi mais baixa do que em outras experiências internacionais; 45% dos consultandos abandonaram o protocolo depois de saberem o resultado do teste pré-sintomático (73,5% dos quais eram não-portadores). 29,6% de consultandos portadores continuaram envolvidos no protocolo um ano após saberem o resultado do teste pré-sintomático. Os consultandos encaminhados para o protocolo através de outros profissionais de saúde revelaram maior adesão ao protocolo. Discussão: O perfil sociodemográfico dos consultandos no Centro de Genética Preditiva e Preventiva é similar ao reportado noutras experiências internacionais. Os consultandos em risco para polineuropatia amiloidótica familiar ATTR Val30Met representaram o maior grupo nos nossos dados, sendo provável que as opções terapêuticas disponíveis para esta doença tenham influenciado este resultado. A adesão ao teste pré-sintomático poderá alterar-se no futuro quando terapias eficazes estiverem disponíveis (ou as pessoas as percepcionem como estando iminentes). Conclusão: Este trabalho constitui a descrição mais completa até ao momento publicada acerca da realização de teste pré-sintomático em Portugal. O desenvolvimento de abordagens com vista à melhoria da experiência dos consultandos com os testes pré-sintomáticos e ao seu envolvimento nos serviços de genética é um desafio atual, assim como a melhor articulação dos mesmos com os cuidados de saúde primários.


Assuntos
Doenças Assintomáticas , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico , Exame Neurológico/estatística & dados numéricos , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/genética , Revelação , Triagem de Portadores Genéticos , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Transtornos Heredodegenerativos do Sistema Nervoso/psicologia , Humanos , Doença de Machado-Joseph/diagnóstico , Doença de Machado-Joseph/genética , Pessoa de Meia-Idade , Exame Neurológico/psicologia , Pacientes Desistentes do Tratamento/estatística & dados numéricos , Portugal , Estudos Retrospectivos , Fatores Socioeconômicos , Fatores de Tempo , Adulto Jovem
18.
Eur J Hum Genet ; 27(2): 169-182, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30310124

RESUMO

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.


Assuntos
Dever de Recontatar , Aconselhamento Genético/ética , Testes Genéticos/ética , Guias de Prática Clínica como Assunto , União Europeia , Aconselhamento Genético/legislação & jurisprudência , Aconselhamento Genético/normas , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/normas , Humanos , Sociedades Médicas/normas
19.
Eur J Hum Genet ; 27(3): 353-359, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30573801

RESUMO

This paper reports accounts from people at-risk for, or affected by, Machado-Joseph disease, and their family members, about their decisions not to seek pre-symptomatic testing, therefore remaining (for the time) uninformed about their genetic status. We draw on individual and family semi-structured interviews with participants recruited through a national patient's association (n = 25). Qualitative thematic analysis revealed three main categories of accounts: (1) justifying the decision "not to know", because either no clinical benefit was expected or predictive knowledge was anticipated as psychologically burdensome; (2) prioritizing everyday life, maintaining hope and the goal of living a valid life; and (3) the wish to know: ambivalence and conflict within the family. Findings suggest the value of genetic information is often questioned when no effective treatment or cure is available; and that people have different tolerance thresholds for predictive information, and this impacts individuals within the family differently. We discuss this in the context of the making of "responsible" decisions, and of the tensions that may arise within families between the best interests or wishes of a person and those of other family members. We hope this will clarify the reasoning of those who opt for non-engagement with medical genetic services and, more specifically, pre-symptomatic testing. Further, we hope it will be relevant for the provision of genetic counselling and psychosocial support to such families.


Assuntos
Comportamento de Escolha , Aconselhamento Genético/psicologia , Testes Genéticos/ética , Doença de Machado-Joseph/psicologia , Participação do Paciente , Adolescente , Adulto , Feminino , Humanos , Doença de Machado-Joseph/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Revelação da Verdade
20.
Dental press j. orthod. (Impr.) ; 23(6): 42-47, Nov.-Dec. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-975034

RESUMO

ABSTRACT Objective: This clinical study was conducted in order to evaluate force decay over time of latex and non-latex orthodontic intraoral elastics. Methods: Patients (n = 15) were evaluated using latex and non-latex elastics in the periods of : 0, 1, 3, 12 and 24 hours. The rubber bands were transferred to the testing machine (EMIC DL-500 MF), and force values were recorded after stretching the elastic to a length of 25mm. Paired t test was applied and analysis of variance (ANOVA) was used to evaluate the variation of force generated. LSD (Fisher's least significant difference) post-hoc test was thus employed. Results: As regards the initial forces (zero time), the values of force for non-latex elastic were slightly higher than for the latex elastic. In the subsequent times, the forces generated by the latex elastic showed higher values. Regarding the material degradation, at the end of 24 hours the highest percentage was observed for non-latex elastic. Conclusions: The latex elastics had a more stable behavior during the studied period, compared with non-latex.


RESUMO Objetivo: o objetivo deste estudo clínico foi avaliar e comparar o comportamento dos elásticos de látex e não látex quanto à perda de força ao longo do tempo. Método: os pacientes (n = 15) foram avaliados usando ambos os tipos de material (látex e não látex) em cada tempo: 0, 1, 3, 12 e 24 horas. Os elásticos foram transferidos para a máquina de ensaios mecânicos (EMIC DL-500 MF) e os valores de força foram registrados após a distensão dos elásticos a uma distância de 25 mm. Foi aplicado o teste t pareado, e a análise de variância (ANOVA) foi realizada para verificar a variação das forças geradas em todos os tempos estudados. Em seguida, o teste post-hoc LSD (Fisher's least significant difference) foi aplicado. Resultados: quanto às forças iniciais (tempo zero), os valores de força dos elásticos não látex foram ligeiramente maiores do que dos elásticos de látex. Nos tempos subsequentes, as forças geradas pelos elásticos de látex apresentaram valores superiores às geradas pelos elásticos não látex. Em relação à degradação do material, ao fim do período de 24 horas, o maior percentual foi observado pelos elásticos não látex. Conclusões: os elásticos de látex apresentaram comportamento mais estável durante o período de estudo, em comparação aos não látex.


Assuntos
Humanos , Adulto , Adulto Jovem , Aparelhos Ortodônticos , Borracha/química , Materiais Dentários/química , Látex/química , Elastômeros de Silicone/química , Estresse Mecânico , Resistência à Tração , Teste de Materiais , Análise de Variância , Desenho de Aparelho Ortodôntico , Análise do Estresse Dentário/métodos , Elasticidade , Fenômenos Mecânicos
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