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1.
Am J Hum Genet ; 107(5): 797-801, 2020 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-33157006

RESUMO

The analogy between genomics and imaging has been an important touchstone in the debate on how secondary findings should be handled in both clinical and research genomics contexts. However, a critical eye is needed to understand whether an analogy like this one provides an adequate basis for policymaking in genomics. Genomics and imaging are undoubtedly similar in certain ways, but whether that similarity is adequate to justify adopting identical policies is a task that requires further analysis. This is highlighted by the fact that secondary findings are produced in other domains of medicine and public health, such as newborn screening programs, routine laboratory panels, and antibiotic sensitivity testing, and that the practices for handling secondary findings in each of these areas are different. These examples demonstrate that medicine has no single comprehensive policy or set of practices for managing secondary findings. Analogies to imaging, newborn screening, routine testing panels, and antibiotic sensitivity testing all lead to different policy options for genomics. In this piece we argue that analogies are a powerful way of driving policy discussions by rendering two different areas of medical practice similar, but an overdependence on a single analogy risks limiting policy discussions in potentially deleterious ways.


Assuntos
Revelação/ética , Testes Genéticos/ética , Genômica/ética , Política de Saúde/legislação & jurisprudência , Formulação de Políticas , Saúde Pública/ética , Diagnóstico por Imagem/ética , Revelação/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Genômica/legislação & jurisprudência , Humanos , Achados Incidentais , Recém-Nascido , Análise de Sequência de DNA
3.
Med Sci (Paris) ; 36(5): 515-520, 2020 May.
Artigo em Francês | MEDLINE | ID: mdl-32452374

RESUMO

The genetic tests for "non-rare thrombophilias" (TNR) were introduced into clinical setting immediately after the identification of genetic variants in the mid-90s to predict and prevent venous thromboembolism (VTE). Although being a rare example of a genetic test of susceptibility for complex diseases that has been integrated in medical routine, it is the most widespread post-natal genetics inquiry in France nowadays. Yet, determining whom to test and how to use the results is still controversial. This article outlines the trajectory of its clinical regulation and illustrates the importance of the context of use to understand its diffusion. This analysis is intended to feed a more general reflection on the issues raised by the clinical integration of genetic surveys for common diseases, particularly with regard to the clinical utility of a test (statistical vs. biological), the subjects to be tested (the case index and/or her/his relatives), and the criteria underlying access to these tests (modalities of medico-economic assessment).


Assuntos
Testes Genéticos , Trombofilia/diagnóstico , Trombofilia/genética , Acesso à Informação/legislação & jurisprudência , Revelação/ética , Revelação/legislação & jurisprudência , França/epidemiologia , Predisposição Genética para Doença , Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/métodos , Acesso aos Serviços de Saúde/ética , Acesso aos Serviços de Saúde/legislação & jurisprudência , História do Século XXI , Humanos , Recém-Nascido , Legislação Médica , Futilidade Médica/ética , Futilidade Médica/legislação & jurisprudência , Triagem Neonatal/ética , Triagem Neonatal/legislação & jurisprudência , Triagem Neonatal/métodos , Padrões de Prática Médica/ética , Padrões de Prática Médica/legislação & jurisprudência , Padrões de Prática Médica/tendências , Valor Preditivo dos Testes , Trombofilia/epidemiologia
4.
Eur J Cancer ; 132: 100-103, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32335476

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 Risco
5.
Obstet Gynecol ; 135(4): e189-e192, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32217981

RESUMO

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.


Assuntos
Aconselhamento Genético/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Cuidado Pré-Natal/legislação & jurisprudência , Adulto , Feminino , Ginecologia , Humanos , Obstetrícia , Gravidez , Complicações na Gravidez/diagnóstico , Sociedades Médicas , Estados Unidos
6.
Rev. bioét. derecho ; (48): 209-226, mar. 2020.
Artigo em Espanhol | IBECS | ID: ibc-192088

RESUMO

El Proyecto Genoma Humano ha significado un paso trascendental en la historia de la ciencia, especialmente en el ejercicio de la medicina y en el tratamiento del paciente. Sin embargo, este hito histórico también ha repercutido con intensidad en otras áreas de la sociedad, las cuales a la fecha han comenzado a mostrar los impactos en sus diversas esferas. Este trabajo intenta analizar el estado actual de esta nueva realidad bajo el prisma de cada uno de estos agentes mencionados, con especial énfasis en el nuevo concepto de "discriminación genética" que afecta a todo individuo en razón de la información codificada en su ADN


The Human Genome Project has meant a transcendental step in the history of science, especially in the practice of medicine and in patient's treatment. However, this historical milestone has also had an impact on other areas of society, which have begun to show the effects in their various spheres. This paper analyzes the current state of this new reality under the prism of each of these mentioned agents, with special emphasis on the new concept of "genetic discrimination" that affects every individual because of the information encoded in their DNA


El Projecte Genoma Humà ha significat un pas transcendental en la història de la ciència, especialment en l'exercici de la medicina I en el tractament del pacient. No obstant això, aquesta fita històrica també ha repercutit amb intensitat en altres àrees de la societat, les quals a la data han començat a mostrar els impactes en les seves diverses esferes. Aquest treball analitza l'estat actual d'aquesta nova realitat sota el prisma de cadascun d'aquests agents esmentats, amb especial èmfasi en el nou concepte de "discriminació genética" que afecta a tot individu en raó de la informació codificada en el seu ADN


Assuntos
Humanos , Projeto Genoma Humano/ética , Privacidade Genética/ética , Genômica/ética , Projeto Genoma Humano/legislação & jurisprudência , Privacidade Genética/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Genética Médica/classificação , Genética Médica/ética , Achados Incidentais
7.
Per Med ; 17(2): 141-153, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32125932

RESUMO

The rapidly evolving popularity of direct-to-consumer genetic genealogy companies has made it possible to retrieve genomic information for unintended reasons by third parties, including the emerging use for law enforcement purposes. The question remains whether users of direct-to-consumer genetic genealogy companies and genealogical databases are aware that their genetic and/or genealogical data could be used as means to solving forensic cases. Our review of 22 companies' and databases' policies showed that only four companies have provided additional information on how law enforcement agencies should request permission to use their services for law enforcement purposes. Moreover, two databases have adopted a different approach by providing a special service for law enforcement. Although all companies and databases included in the study provide at least some provisions about police access, there is an ongoing debate over the ethics of these practices, and how to balance users' privacy with law enforcement requests.


Assuntos
Privacidade Genética/legislação & jurisprudência , Testes Genéticos/ética , Bases de Dados Factuais/ética , Bases de Dados Factuais/legislação & jurisprudência , Triagem e Testes Direto ao Consumidor/ética , Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Privacidade Genética/ética , Testes Genéticos/legislação & jurisprudência , Política de Saúde , Humanos , Linhagem
8.
Med Sci (Paris) ; 36(2): 153-159, 2020 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32129752

RESUMO

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.


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 & jurisprudência
9.
Obstet Gynecol ; 135(4): 994-995, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32217975

RESUMO

The rapidly evolving genetic technologies that are available to patients and obstetrician-gynecologists have transformed the practice of clinical medicine. From cell-free DNA screening technologies in pregnancy to expanded carrier screening and hereditary cancer gene panels, obstetrician-gynecologists often are faced with questions about their legal responsibilities regarding genetic information as well as the legal ramifications of this information for their patients.The Committee on Genetics has constructed the following case studies to highlight some of the legal issues an obstetrician-gynecologist may encounter when performing genetic testing. These cases do not cover the breadth of legal issues affecting clinical genetics, but rather they illustrate certain legal concepts and principles as well as key pieces of legislation that are pertinent to clinical care. These case descriptions are not intended to serve as legal advice. Obstetrician-gynecologists are strongly encouraged to seek expert legal assistance to resolve questions involving legal rights or responsibilities.


Assuntos
Aconselhamento Genético/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Cuidado Pré-Natal/legislação & jurisprudência , Adulto , Feminino , Ginecologia , Humanos , Obstetrícia , Gravidez , Complicações na Gravidez/diagnóstico , Sociedades Médicas , Estados Unidos
10.
Acta Obstet Gynecol Scand ; 99(6): 716-721, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32103489

RESUMO

INTRODUCTION: Assisted reproduction technologies are being rapidly developed and implementation of preimplantation genetic testing (PGT) has allowed patients with genetic disorders to initiate pregnancies while minimizing or eliminating the risk of transmitting these disorders to their offspring. Testing for numeric chromosomal anomalies has been proposed as a way to increase efficacy in assisted reproduction; however, this remains disputed. Legislation is lagging behind the rapid developments in this field. MATERIAL AND METHODS: We conducted a structured online survey of legislation and accessibility to preimplantation genetic testing in the Nordic countries to compare the regulation and uptake of this technique. The survey was designed and answered by the authors. RESULTS: Key elements in the regulation of preimplantation testing for monogenic disorders and structural rearrangements are similar in the Nordic countries, although accessibility varies since only Denmark, Finland, and Sweden have national clinics offering treatment. In addition, Denmark and Finland have private clinics offering PGT. Regulation is the most stringent in Norway where a national board evaluates all couples seeking treatment. Treatment volumes vary between the Nordic countries, with Norway and Finland having lowest treatment numbers. Preimplantation genetic testing for aneuploidy in the embryo varies between the Nordic countries: Finland and Iceland allow this form of treatment, Denmark and Sweden offer it only in the form of a research protocol, and Norway does not allow it at all. Therefore the number of treatment cycles involving testing for embryo aneuploidy are lower in the Nordic countries than in other countries where this treatment option is more common. CONCLUSIONS: Science needs to inform politics regarding the rapidly evolving field of reproductive medicine and we recommend harmonization of legislation and accessibility between the Nordic countries.


Assuntos
Testes Genéticos/legislação & jurisprudência , Testes Genéticos/estatística & dados numéricos , Acesso aos Serviços de Saúde/estatística & dados numéricos , Diagnóstico Pré-Implantação/estatística & dados numéricos , Aneuploidia , Feminino , Rearranjo Gênico , Doenças Genéticas Inatas/diagnóstico , Humanos , Gravidez , Países Escandinavos e Nórdicos , Inquéritos e Questionários
13.
Clin Chem ; 66(1): 61-67, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31699701

RESUMO

BACKGROUND: Molecular genetic testing has raised a variety of policy issues, ranging from privacy to reimbursement. Recently, payment policies have become of paramount importance as Medicare implemented the first significant change to test pricing since 1984 and announced a broad national coverage policy for the use of next-generation sequencing (NGS) in cancer patients that contains significant restrictions. Regulatory and oversight concerns have been important topics for discussion as the US Food and Drug Administration (FDA), Congress, and stakeholders have focused on new approaches to regulation of laboratory-developed tests (LDTs). Patents on gene sequences and relationships between genetic variants and clinical phenotypes have been points of contention since the field's inception. Two Supreme Court cases invalidated patents on gene sequences and biological relationships, ushering in the era of NGS and precision medicine. However, a recent legislative proposal threatens to reverse these gains and restore gene patents as barriers to progress in genetic and genomic testing and the implementation of genomic medicine. CONTENT: This review discusses current issues in payment policy, laboratory oversight, and gene patenting and their potential impacts on genetic and genomic testing. SUMMARY: Coverage and reimbursement policies present serious challenges to genetic and genomic testing. The potential for FDA regulation of LDTs looms as a significant threat to diagnostic innovation, patient access, and the viability of molecular genetic testing laboratories. Changes in patent law could cause gene patents to reemerge as barriers to the advancement of genomic medicine.


Assuntos
Testes Genéticos/legislação & jurisprudência , Regulamentação Governamental , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Laboratórios Hospitalares/economia , Medicare/economia , Medicare/legislação & jurisprudência , Neoplasias/diagnóstico , Neoplasias/genética , Medicina de Precisão , Estados Unidos , United States Food and Drug Administration
14.
Genet Med ; 22(1): 4-11, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31402353

RESUMO

In recent years, third-party genetic interpretation services have emerged to help individuals understand their raw genetic data obtained from researchers, clinicians, and direct-to-consumer genetic testing companies. The objectives of these services vary but include matching users to genetic relatives, selling customized diet and fitness plans, and providing health risk assessments. As these services proliferate, concerns are being raised about their accuracy, safety, and privacy practices. Thus far, US regulatory agencies have not taken an official position with respect to third-party genetic interpretation services, which has caused uncertainty regarding whether and how they might be regulated. To clarify this area, we analyzed their potential oversight by four US agencies that generally have been active in the regulation of genetic testing services and information: the Centers for Medicare and Medicaid Services, the Food and Drug Administration, the Department of Health and Human Services' Office of Civil Rights, and the Federal Trade Commission. We conclude that the scope of federal jurisdiction over third-party genetic interpretation services-while limited-could be appropriate at this time, subject to agency clarification and appropriate exercise of oversight.


Assuntos
Serviços em Genética/organização & administração , Testes Genéticos/legislação & jurisprudência , Centers for Medicare and Medicaid Services, U.S. , Triagem e Testes Direto ao Consumidor , Serviços em Genética/legislação & jurisprudência , Humanos , Medição de Risco , Estados Unidos , United States Dept. of Health and Human Services , United States Federal Trade Commission , United States Food and Drug Administration
16.
Genet Med ; 22(1): 95-101, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31363181

RESUMO

PURPOSE: Clinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept. METHODS: Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals. RESULTS: A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings. CONCLUSION: Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.


Assuntos
Prática Clínica Baseada em Evidências/métodos , Testes Genéticos/métodos , Avaliação de Resultados em Cuidados de Saúde/métodos , Estudos Transversais , Feminino , Testes Genéticos/legislação & jurisprudência , Humanos , Masculino , Reprodutibilidade dos Testes
17.
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
18.
Clin J Oncol Nurs ; 23(6): 563, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31730597

RESUMO

Federal agents raided a number of genetic testing laboratories in September 2019, resulting in 35 people being charged with fraudulent genetic testing associated with an estimated $2.1 billion in losses to federal healthcare insurance programs. The scams work in several ways. In some cases, an older adult is contacted by a customer service representative of the testing laboratory and told that Medicare pays for the genetic testing ordered, based on a simple cheek swab sample. This occurs when representatives of the testing laboratory have "arrangements" with providers who order the tests, often without the provider examining the patient. These providers may receive financial payment or other gifts for their efforts.


Assuntos
DNA/genética , Fraude/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Medicare/economia , Testes Genéticos/economia , Humanos , Estados Unidos
19.
J Health Econ ; 68: 102223, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31581025

RESUMO

We develop a theoretical analysis of two widely used regulations of genetic tests, Disclosure Duty and Consent Law, and we run an experiment in order to shed light on both the take-up rate of genetic testing and on the comparison of policyholders' welfare under the two regulations. Disclosure duty forces individuals to reveal their test results to insurers, exposing them to a discrimination risk. Consent Law allows them to hide any detrimental information, resulting in adverse selection. The experiment results in much lower genetic tests take-up rates with Disclosure Duty than with Consent Law, showing that subjects are very sensitive to the discrimination risk. Under Consent Law, take-up rates increase with the adverse selection intensity. A decrease in the test cost, and in adverse selection intensity, both make it more likely that Consent Law is preferred to Disclosure Duty.


Assuntos
Revelação/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Consentimento Livre e Esclarecido/legislação & jurisprudência , Aceitação pelo Paciente de Cuidados de Saúde , Feminino , Humanos , Masculino , Medicina de Precisão , Adulto Jovem
20.
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
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