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1.
Artigo em Inglês | MEDLINE | ID: mdl-31847347

RESUMO

Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted to protect against this type of discrimination; however, Black women's levels of confidence in this law are unknown. In this descriptive study, we sought to (1) assess Black women's confidence in the GINA law and (2) identify multilevel factors related to their confidence in GINA. Ninety-four Black women at-risk of HBOC completed surveys that assessed intrapersonal, interpersonal, and structural factors. Multiple regression analysis determined factors associated with confidence in GINA. Most women were ≤50 years of age (66.0%) and about half never had a cancer diagnosis (51.1%). Confidence in GINA was moderate (mean = 10.67; standard deviation = 2.54; range = 5-15). Women who valued GCT reported more confidence in GINA (ß = 0.345; CI 0.017 to 0.673; p = 0.040). Lack of confidence in GINA may serve as a barrier to seeking GCT. Efforts to increase the perceived value of GCT among Black women could be benefited by increasing awareness of national efforts towards privacy protections of genetic information.


Assuntos
Afro-Americanos/psicologia , Neoplasias da Mama/psicologia , Aconselhamento Genético/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Neoplasias Ovarianas/psicologia , Adulto , Afro-Americanos/genética , Feminino , Aconselhamento Genético/ética , Testes Genéticos/ética , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Inquéritos e Questionários
2.
Pediatrics ; 144(6)2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31719124

RESUMO

The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of both healthy newborns and newborns who are sick. Infants were randomly assigned to receive standard of care or standard of care plus sequencing. The protocol and consent specified that only childhood-onset conditions would be returned. When 1 child was found to carry a BRCA2 mutation despite a negative family history, the research team experienced moral distress about nondisclosure and sought institutional review board permission to disclose. The protocol was then modified to require participants to agree to receive results for adult-onset-only conditions as a precondition to study enrollment. The BabySeq team asserted that their new protocol was in the child's best interest because having one's parents alive and well provides both an individual child benefit and a "family benefit." We begin with a short description of BabySeq and the controversy regarding predictive genetic testing of children for adult-onset conditions. We then examine the ethical problems with (1) the revised BabySeq protocol and (2) the concept of family benefit as a justification for the return of adult-onset-only conditions. We reject family benefit as a moral reason to expand genomic sequencing of children beyond conditions that present in childhood. We also argue that researchers should design their pediatric studies to avoid, when possible, identifying adult-onset-only genetic variants and that parents should not be offered the return of this information if discovered unless relevant for the child's current or imminent health.


Assuntos
Testes Genéticos/ética , Triagem Neonatal/ética , Triagem Neonatal/psicologia , Pais/psicologia , Sequenciamento Completo do Exoma/ética , Testes Genéticos/normas , Humanos , Recém-Nascido , Triagem Neonatal/normas , Análise de Sequência de DNA/ética , Análise de Sequência de DNA/normas , Sequenciamento Completo do Exoma/normas
3.
Rev Med Suisse ; 15(668): 1909-1913, 2019 Oct 23.
Artigo em Francês | MEDLINE | ID: mdl-31643150

RESUMO

In Switzerland, since modifications of the law regulating reproductive medicine introduced the 1rst of September 2017, preimplantation genetic testing (PGT) has been legalised. Infertile couples undergoing in vitro fertilization (IVF) can benefit from this technology by detecting which embryos are aneuploid (ie abnormal number of chromosomes, PGT-A). This is performed in order to transfer euploid embryos (normal number of chromosomes) and to optimise success, though data are limited. Couples at risk of transmitting a severe monogenic disease or unbalanced translocation can undergo PGT for monogenic disease or chromosomal structural rearrangements (PGT-M/SR). These tests are subject to strict legal criteria. Their clinical application needs to be approved through a multidisciplinary approach taking into account legal and ethical issues while respecting the autonomy of the couples.


Assuntos
Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Diagnóstico Pré-Implantação/ética , Aneuploidia , Feminino , Fertilização In Vitro , Testes Genéticos/métodos , Humanos , Masculino , Gravidez , Diagnóstico Pré-Implantação/métodos , Suíça
6.
Pediatrics ; 143(6)2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31097466

RESUMO

One of the most common dilemmas faced by physicians and genetic counselors is the discovery of misattributed paternity. In this article, we present a case in which misattributed paternity was discovered as an incidental finding. Experts analyze the competing moral obligations that might dictate disclosure or nondisclosure.


Assuntos
Aconselhamento Genético/ética , Testes Genéticos/ética , Achados Incidentais , Paternidade , Revelação da Verdade/ética , Claudina-1/genética , Feminino , Aconselhamento Genético/psicologia , Humanos , Recém-Nascido , Masculino , Adulto Jovem
7.
BMC Med Ethics ; 20(1): 37, 2019 05 29.
Artigo em Inglês | MEDLINE | ID: mdl-31142291

RESUMO

BACKGROUND: Sickle cell anemia (SCA) is a major genetic disease with the greatest burden in sub-Saharan Africa. To try to help reduce this burden, some churches in Nigeria conduct premarital sickle cell hemoglobin screening and refuse to conduct weddings when both individuals are identified as carriers of sickle cell trait. MAIN BODY: This paper explores the ethical challenges involved in such denials. We assess whether churches have the right to decline to marry adults who understand the risks and still prefer to get married, and whether couples should be denied church weddings based on the risk that their child may suffer from sickle cell anemia. We examine the moral and ethical dimensions of such denials and explore the underlying socio-cultural context involving the purpose of marriage and the meaning of the wedding ceremony in societies where premarital screening is one of the few tools available to reduce the risk of having children with SCA. The potential role of the church is also examined against the background of church beliefs, the duty of the church to its members and its role in reducing the suffering of its members and /or their children. CONCLUSION: We argue that the church should impose these burdens on couples only if doing so promotes a sufficiently compelling goal and there is no less burdensome way to achieve it. We then argue that the goal of reducing the number of individuals in Nigeria who have SCA is compelling. However, testing earlier in life offers a less burdensome and potentially even more effective means of achieving this goal. This suggests that, advocating for earlier screening and helping to support these programs, would likely better promote the church's own goals of helping its parishioners, increasing the number of church weddings, and reducing the burden of SCA in Nigeria.


Assuntos
Testes Genéticos/ética , Hemoglobinas/genética , Casamento , Exames Pré-Nupciais/ética , Religião e Medicina , Traço Falciforme/genética , Adolescente , Adulto , Anemia Falciforme/genética , Anemia Falciforme/prevenção & controle , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nigéria , Adulto Jovem
9.
BMC Med Ethics ; 20(1): 25, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31014326

RESUMO

BACKGROUND: Endeavors have been made to found and incorporate ethical values in most aspects of healthcare, including health technology assessment. Health technologies and their assessment are value-laden and could trigger problems with dissemination if they contradict societal norms. Per WHO definition, preconception expanded carrier screening is a new health technology that warrants assessment. It is a genetic test offered to couples who have no known risk of recessive genetic diseases and are interested pregnancy. A test may screen for carrier status of several autosomal recessive diseases and X-linked at one go. The technique has been piloted in the Netherlands and is discussed in other countries. The aim of the study was to examine values and value conflicts that healthcare experts recounted in relation to the discussion of implementation and use of preconception ECS in Sweden. METHODS: We interviewed ten experts, who were associated with influencing health policymaking in Sweden. We employed systematizing expert interviews, which endeavor to access experts' specialist knowledge. There were four female and six male informants, of which four were physicians, three bioethicists, one a legal expert, one a theologian and one a political party representative in the parliament. The participants functioned as members of two non-governmental bodies and three governmental organizations. We employed thematic analysis to identify themes, categories and subcategories. RESULTS: Two main themes surfaced: values and value conflicts. The main categories of Respect for persons, Solidarity, Human dignity, Do no harm, Health and Love formed the first theme, while values conflicting with autonomy and integrity respectively, constituted the second theme. Concepts relating to respect for persons were the most commonly mentioned among the participants, followed by notions alluding to solidarity. Furthermore, respondents discussed values conflicting with Swedish healthcare ones such as equality and solidarity. CONCLUSIONS: The experts highlighted values and concepts that are distinctive of welfare states such as Sweden and delineated how preconception ECS could challenge such values. Moreover, the analysis revealed that certain values were deemed more substantive than others, judging by the extent and detail of inference; for example, respect for persons and solidarity were on top of the list.


Assuntos
Triagem de Portadores Genéticos/ética , Testes Genéticos/ética , Cuidado Pré-Concepcional/ética , Valores Sociais , Feminino , Política de Saúde , Humanos , Entrevistas como Assunto , Masculino , Desenvolvimento de Programas , Suécia
10.
Pac Symp Biocomput ; 24: 427-438, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30963079

RESUMO

The United States' All of Us Research Program is a longitudinal research initiative with ambitious national recruitment goals, including of populations traditionally underrepresented in biomedical research, many of whom have high geographic mobility. The program has a distributed infrastructure, with key programmatic resources spread across the US. Given its planned duration and geographic reach both in terms of recruitment and programmatic resources, a diversity of state and territory laws might apply to the program over time as well as to the determination of participants' rights. Here we present a listing and discussion of state and territory guidance and regulation of specific relevance to the program, and our approach to their incorporation within the program's informed consent processes.


Assuntos
Pesquisa Biomédica , Consentimento Livre e Esclarecido , Pesquisa Biomédica/ética , Pesquisa Biomédica/legislação & jurisprudência , Estudos de Coortes , Biologia Computacional , Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Genômica/ética , Genômica/legislação & jurisprudência , Health Insurance Portability and Accountability Act/ética , Health Insurance Portability and Accountability Act/legislação & jurisprudência , Humanos , Consentimento Livre e Esclarecido/ética , Consentimento Livre e Esclarecido/legislação & jurisprudência , Estudos Longitudinais , Estados Unidos
12.
Cell ; 177(1): 5-7, 2019 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-30901548

RESUMO

Millions of people have taken direct-to-consumer DNA tests, but not everyone is happy with the status quo. Several startups in the genetic testing space are aiming to empower individuals and build communities in order to boost research and, ultimately, public health.


Assuntos
Triagem e Testes Direto ao Consumidor/ética , Triagem e Testes Direto ao Consumidor/tendências , Testes Genéticos/ética , Testes Genéticos/tendências , Genômica/métodos , Humanos
14.
Am J Hum Genet ; 104(2): 197-202, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30735660

RESUMO

Personalized genetic information is not widely utilized as a resource in learning environments, in part because of concerns about data privacy and the treatment of sensitive personal information. Here we describe the implementation of a curriculum centered on analyzing personalized genetic-ancestry test results during two-week science summer camps for middle-school-aged youth. Our research focused on how the examination of personalized DNA results affected learners' subsequent perceptions and performance, as measured by in-camp pre- and post-tests and surveys, analysis of voluntary student talk captured by audio and video recordings, and periodic one-on-one post-camp follow-ups. The curriculum was grounded in Next Generation Science Standards (NGSS) and focused around the central question of "Who am I?" Campers approached this question via guided lessons designed to shed light on their genetic uniqueness, the many attributes of their genotype and phenotype shared with others, their more distant genetic and evolutionary ancestries, and their roles as active agents in the healthy continuation of their lives. Data relevant to these questions came from edited subsets of ancestry-informative single-nucleotide polymorphisms (SNPs) and phenotype-related SNPs from the campers' genotype results, which their parents had received from a direct-to-consumer vendor. Our approaches to data privacy and the discovery, disclosure, and discussion of sensitive information on paternity, carrier status, and ancestry can be usefully applied and modified for many educational contexts. On the basis of our pilot implementations, we recommend additional and expanded research on how to incorporate personalized genetic ancestry information in a variety of learning contexts.


Assuntos
Currículo , Privacidade Genética , Testes Genéticos/ética , Testes Genéticos/métodos , Estudantes , Adolescente , Currículo/tendências , Feminino , Genótipo , Humanos , Masculino , Fenótipo , Medicina de Precisão , Marginalização Social , Estudantes/psicologia
16.
Pediatrics ; 143(Suppl 1): S1-S5, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30600264

RESUMO

In this article, I review some of the ethical issues that have arisen in the past when genetic testing has been done in newborns. I then suggest how whole genome sequencing may raise a new set of issues. Finally, I introduce a series of other articles in which the authors address different controversies that arise when whole genome sequencing is used in the newborn period.


Assuntos
Testes Genéticos/ética , Sequenciamento Completo do Genoma/ética , Temas Bioéticos , Triagem de Portadores Genéticos/ética , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/ética , Manejo de Espécimes/ética
17.
Pediatrics ; 143(Suppl 1): S33-S36, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30600269

RESUMO

Ethical controversies may arise when genome sequencing reveals a genetic variant that is thought to be pathogenic, but the patient has no symptoms. This could be due to variable penetrance or expressivity. It could also result from a misclassification of the gene as pathogenic. In this article, I analyze 2 possibilities when such a situation occurs. The first is straightforward. We could conclude that the sequencing results should be considered a "false-positive" test result. The second is a bit more counterintuitive. In some cases, we could consider the test result to be a true-positive but in way that has not yet led to phenotypic findings. Somewhat playfully, we imagine that, in such cases, we could consider the patient's phenotype to be falsely negative. Sometimes, as odd as it seems, we act is if that is what we believe.


Assuntos
Doenças Assintomáticas , Reações Falso-Negativas , Testes Genéticos/ética , Variação Genética , Fenótipo , Cardiomiopatia Hipertrófica Familiar/diagnóstico , Cardiomiopatia Hipertrófica Familiar/genética , Desfibriladores Implantáveis , Humanos , Leucodistrofia de Células Globoides/diagnóstico , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Programas de Rastreamento , Penetrância , Sequenciamento Completo do Genoma
18.
Curr Sports Med Rep ; 18(1): 20-22, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30624331

RESUMO

Genetic biomarkers have been evaluated for validity in predicting risk for sports-related concussion as well as prognosticating recovery from this injury. Research results from predominantly small-scale pilot studies thus far are mixed and preliminary findings have not been adequately replicated. Currently, the use of such genetic biomarkers should be considered investigational and not for routine clinical use.


Assuntos
Traumatismos em Atletas/genética , Biomarcadores , Concussão Encefálica/genética , Testes Genéticos/ética , Genótipo , Humanos , Recuperação de Função Fisiológica , Fatores de Risco
19.
Med Sci (Paris) ; 35(1): 72-77, 2019 Jan.
Artigo em Francês | MEDLINE | ID: mdl-30672462

RESUMO

High speed sequencing is revolutionizing the various genetic tests and in particular preimplantation genetic diagnosis (PGD), opening the doors to an increasingly efficient predictive medicine. PGD itself is not new, and the various legistations have been dealing with it for some twenty years. National ethics committees, for their part, have widely debated antenatal tests in the context of medically assisted procreation. This paper examines the work of these Committees on PGD in three States, France, Belgium and Switzerland, in order to highlight their similarities and differences. The subject has also been raised and discussed in the context of the États généraux de la bioéthique which took place this year in France and, given the progresses made recently, they have echoed certain demands of civil society. However, in France, caution continues to dominate.


Assuntos
Testes Genéticos/métodos , Diagnóstico Pré-Implantação/métodos , Bélgica , Temas Bioéticos , Feminino , França , Testes Genéticos/ética , Humanos , Gravidez , Diagnóstico Pré-Implantação/ética , Suíça
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