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1.
Medicine (Baltimore) ; 99(15): e19751, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32282736

RESUMO

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate intellectual disability. DIAGNOSIS: Two novel compound heterozygous mutations of THOC6, c.664T>C (p.Trp222Arg) and c.945+1 G>A were identified in this patient by whole exome sequencing. The two mutations were evaluated as pathogenic and likely pathogenic respectively according to the American College of Medical Genetics guidelines. This is the first case displaying the BBIS phenotype reported in the Chinese population. These two mutations have not been reported previously. INTERVENTIONS: Symptomatic treatment and rehabilitation training for patients. OUTCOMES: The genetic cause of the disease was identified. The family received scientific genetic counseling. LESSONS: BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.


Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Atrofia Muscular/genética , Proteínas de Ligação a RNA/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/reabilitação , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/reabilitação , Deficiências do Desenvolvimento/terapia , Facies , Aconselhamento Genético/normas , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/reabilitação , Deficiência Intelectual/terapia , Masculino , Atrofia Muscular/diagnóstico , Atrofia Muscular/reabilitação , Atrofia Muscular/terapia , Mutação/genética , Fenótipo , Síndrome , Sequenciamento Completo do Exoma/métodos
2.
Per Med ; 17(2): 129-140, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32154757

RESUMO

Aim: Direct-to-consumer (DTC) genetic tests (GT) have created controversy regarding their risks and benefits. In view of recent regulatory developments, this article aims to explore the attitudes of European clinical geneticists toward the oversight of DTC GT. Materials & methods: Fifteen semi-structured interviews were performed with clinical geneticists based in ten European countries. The transcripts were thematically analysized in an iterative process. Results & conclusion: Respondents strongly supported quality standards for DTC GT equal to those applied within the healthcare setting. Despite participants unanimously considering the involvement of healthcare professionals to be important, mandatory medical supervision was controversial. In this regard, promoting education and truth-in-advertising was considered as being key in maintaining a balance between protecting consumers and promoting their autonomy.


Assuntos
Triagem e Testes Direto ao Consumidor/legislação & jurisprudência , Triagem e Testes Direto ao Consumidor/normas , Europa (Continente) , Aconselhamento Genético/legislação & jurisprudência , Aconselhamento Genético/normas , Testes Genéticos/normas , Genômica , Humanos , Tutoria
3.
Rev. derecho genoma hum ; (51): 119-133, jul.-dic. 2019.
Artigo em Espanhol | IBECS | ID: ibc-192375

RESUMO

En el presente trabajo abordaremos la sentencia del Tribunal Superior de Justicia de Galicia de 10 de julio de 2019. Se trata de un caso en el que se cuestionan los daños derivados de la ausencia de una genuina labor de consejo genético, en una paciente con una patología hereditaria. En nuestro comentario trataremos los argumentos de las partes, así como una aproximación crítica al análisis del Tribunal, y al uso generalizado de la institución jurídica de la "pérdida de oportunidad" como fundamento de la responsabilidad patrimonial de la Administración


In this paper, we will address the resolution of the Galician Superior Court, 10th July 2019. It deals with the damages coming from the lack of true genetic counselling, concerning a patient with a hereditary genetic disorder. In this piece, we will focus on the parties' arguments, and also with a critic approach to the Court analysis, regarding the general utilisation of the legal institution "loss of therapeutic chance" as a founding basis of the Administration liability


Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Criança , Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva/genética , Aconselhamento Genético/normas , Aconselhamento Genético/legislação & jurisprudência , Espanha
6.
Am J Trop Med Hyg ; 101(3): 684-688, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31333164

RESUMO

To explore the educational practices of antenatal care providers toward pregnant women with sickle cell disease (SCD) and sickle cell trait (SCT), a survey was conducted among selected doctors and midwives who provide antenatal care at the outpatient clinic of the Obstetric Department of the Korle-Bu Teaching Hospital, Accra, Ghana. The study explored their practices of screening for and patient education about SCD and SCT. Of the 102 respondents, 100(98%) stated that they were knowledgeable in the medical and genetic aspects of the disease. Regarding screening, 82(80.4%) reported mandatory screening for SCD, 9(8.8%) did not offer screening as routine, and 11(10.8%) gave patients the choice. The majority (93.1%) always informed patients when the test was positive but health-care providers less than six years experience were less likely to communicate SCT status to patients without the trait (odds ratio [OR] = 0.41, 95% CI [0.18-0.93]). Nurses/midwives were less likely to tell patients their carrier status (OR = 0.25, 95% CI [0.10-0.59]). There was also variation in referral practices for genetic counseling, with 26.5% always referring, 28.4% never doing so, and 45.1% only referring if the patient had questions. This may affect patients' awareness of this genetic condition. Therefore, continuous medical education on SCD/SCT and standardization of counseling may help inform couples' family planning choices and reduce the burden of the disease on future generation and health care.


Assuntos
Anemia Falciforme , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde/educação , Cuidado Pré-Natal , Feminino , Aconselhamento Genético/normas , Gana , Humanos , Masculino , Programas de Rastreamento , Pacientes , Inquéritos e Questionários
7.
Mol Genet Genomic Med ; 7(8): e836, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31293106

RESUMO

BACKGROUND: Pathogenic variants in HEXA that impair ß-hexosaminidase A (Hex A) enzyme activity cause Tay-Sachs Disease (TSD), a severe autosomal-recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near-zero activity in patients affected with TSD and can also identify carriers, whose single functional copy of HEXA results in reduced enzyme activity relative to noncarriers. Although enzyme testing has been optimized and widely used for carrier screening in Ashkenazi Jewish (AJ) individuals, it has unproven sensitivity and specificity in a pan-ethnic population. The ability to detect HEXA variants via DNA analysis has evolved from limited targeting of a few ethnicity-specific variants to next-generation sequencing (NGS) of the entire coding region coupled with interpretation of any discovered novel variants. METHODS: We combined results of enzyme testing, retrospective computational analysis, and variant reclassification to estimate the respective clinical performance of TSD screening via enzyme analysis and NGS. We maximized NGS accuracy by reclassifying variants of uncertain significance and compared to the maximum performance of enzyme analysis estimated by calculating ethnicity-specific frequencies of variants known to yield false-positive or false-negative enzyme results (e.g., pseudodeficiency and B1 alleles). RESULTS: In both AJ and non-AJ populations, the estimated clinical sensitivity, specificity, and positive predictive value were higher by NGS than by enzyme testing. The differences were significant for all comparisons except for AJ clinical sensitivity, where NGS exceeded enzyme testing, but not significantly. CONCLUSIONS: Our results suggest that performance of an NGS-based TSD carrier screen that interrogates the entire coding region and employs novel variant interpretation exceeds that of Hex A enzyme testing, warranting a reconsideration of existing guidelines.


Assuntos
Ensaios Enzimáticos/normas , Triagem de Portadores Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/normas , Doença de Tay-Sachs/diagnóstico , Cadeia alfa da beta-Hexosaminidase/genética , Estudos de Coortes , Grupos Étnicos/genética , Reações Falso-Negativas , Reações Falso-Positivas , Triagem de Portadores Genéticos/normas , Aconselhamento Genético/métodos , Aconselhamento Genético/normas , Heterozigoto , Humanos , Mutação , Polimorfismo de Nucleotídeo Único , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Sensibilidade e Especificidade , Doença de Tay-Sachs/genética
8.
Cancer J ; 25(4): 231-236, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31335384

RESUMO

PURPOSE: In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly. METHODS: An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e., Facebook, Twitter, LinkedIn). Examples highlighted in the invitation included errors in ordering, counseling, and/or interpretation of genetic testing and did not limit submissions to cases involving genetic testing for hereditary cancer predisposition. Clinical documentation, including pedigree, was requested. Twenty-six cases were accepted, and a thematic analysis was performed. Submitters were asked to approve the representation of their cases before manuscript submission. RESULTS: All submitted cases took place in the United States and were from cancer, pediatric, preconception, and general adult settings and involved both medical-grade and direct-to-consumer genetic testing with raw data analysis. In 8 cases, providers ordered the wrong genetic test. In 2 cases, multiple errors were made when genetic testing was ordered. In 3 cases, patients received incorrect information from providers because genetic test results were misinterpreted or because of limitations in the provider's knowledge of genetics. In 3 cases, pathogenic genetic variants identified were incorrectly assumed to completely explain the suspicious family histories of cancer. In 2 cases, patients received inadequate or no information with respect to genetic test results. In 2 cases, result interpretation/documentation by the testing laboratories was erroneous. In 2 cases, genetic counselors reinterpreted the results of people who had undergone direct-to-consumer genetic testing and/or clarifying medical-grade testing was ordered. DISCUSSION: As genetic testing continues to become more common and complex, it is clear that we must ensure that appropriate testing is ordered and that results are interpreted and used correctly. Access to certified genetic counselors continues to be an issue for some because of workforce limitations. Potential solutions involve action on multiple fronts: new genetic counseling delivery models, expanding the genetic counseling workforce, improving genetics and genomics education of nongenetics health care professionals, addressing health care policy barriers, and more. Genetic counselors have also positioned themselves in new roles to help patients and consumers as well as health care providers, systems, and payers adapt to new genetic testing technologies and models. The work to be done is significant, but so are the consequences of errors in genetic testing.


Assuntos
Testes Genéticos/normas , Erros de Diagnóstico , Aconselhamento Genético/métodos , Aconselhamento Genético/normas , Testes Genéticos/métodos , Humanos , Erros Médicos , Sobremedicalização , Estados Unidos
9.
Circ Genom Precis Med ; 12(6): e000054, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31117808

RESUMO

Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine, and its growth is attributed to advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions, including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipid disorders, cardiac complications of neuromuscular conditions, and vascular disease, including aortopathies. There have also been great advances in clinical diagnostic methods, as well as in therapies to ameliorate symptoms, slow progression of disease, and mitigate the risk of adverse outcomes. Emerging challenges include interpretation of genetic test results and the evaluation, counseling, and management of genetically at-risk family members who have inherited pathogenic variants but do not yet manifest disease. With these advances and challenges, there is a need for specialized programs combining both cardiovascular medicine and genetics expertise. The integration of clinical cardiovascular findings, including those obtained from physical examination, imaging, and functional assessment, with genetic information allows for improved diagnosis, prognostication, and cascade family testing to identify and to manage risk, and in some cases to provide genotype-specific therapy. This emerging subspecialty may ultimately require a new cardiovascular subspecialist, the genetic cardiologist, equipped with these combined skills, to permit interpretation of genetic variation within the context of phenotype and to extend the utility of genetic testing. This scientific statement outlines current best practices for delivering cardiovascular genetic evaluation and care in both the pediatric and the adult settings, with a focus on team member expertise and conditions that most benefit from genetic evaluation.


Assuntos
Arritmias Cardíacas/genética , Cardiomiopatias/genética , Canalopatias/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Insuficiência Cardíaca/genética , Doenças Neuromusculares/genética , Doenças Vasculares/genética , American Heart Association , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/terapia , Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Canalopatias/diagnóstico , Canalopatias/terapia , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Genômica , Genótipo , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/terapia , Humanos , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/terapia , Linhagem , Fenótipo , Fatores de Risco , Estados Unidos , Doenças Vasculares/diagnóstico , Doenças Vasculares/terapia
10.
J Genet Couns ; 28(4): 836-846, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31058402

RESUMO

The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported "improved patient care" as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.


Assuntos
Conselheiros , Dever de Recontatar , Ética Profissional , Aconselhamento Genético/normas , Testes Genéticos/normas , Aconselhamento Genético/ética , Humanos , Assistência ao Paciente
11.
Eur J Med Genet ; 62(5): 288-289, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30991113

RESUMO

The highly specialist, hub and spoke model of Clinical Genetics, as described by the Royal College of Physicians in the UK in 1991, is under the spotlight. Whilst this has underpinned the successful delivery of genetics services historically, it may not be able to deliver genomic healthcare on its own, at scale, simply because genomic testing is no longer contained - any clinician can now order a genomic test, irrespective of their discipline. The professional group of genomic counsellors are now questioning whether there is need for an evolution of their roles. Do we persist in being attached to past models, or do we embrace new models of care and take a direct role in 'mainstreaming' the skills of genomic counselling?. We conclude the genomic counsellor profession and the translated skills of genomic counselling have much to offer in shaping the future of medicine as genomic technologies become part of routine clinical practice.


Assuntos
Aconselhamento Genético/métodos , Testes Genéticos/métodos , Genômica/métodos , Utilização de Instalações e Serviços , Aconselhamento Genético/organização & administração , Aconselhamento Genético/normas , Humanos , Reino Unido
12.
Artigo em Inglês | MEDLINE | ID: mdl-30907153

RESUMO

C9orf72 hexanucleotide repeat expansions are the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Genetic testing for C9orf72 expansions in patients with ALS and/or FTD and their relatives has become increasingly available since hexanucleotide repeat expansions were first reported in 2011. The repeat number is highly variable and the threshold at which repeat size leads to neurodegeneration remains unknown. We present the case of an ALS patient who underwent genetic testing through our Motor Neurone Disease Clinic. We highlight current limitations to analysing and interpreting C9orf72 expansion test results and describe how this resulted in discordant reports of pathogenicity between testing laboratories that confounded the genetic counselling process. We conclude that patients with ALS or FTD and their at-risk family members, need to be adequately counselled about the limitations of current knowledge to ensure they are making informed decisions about genetic testing for C9orf72. Greater collaboration between clinicians, testing laboratories and researchers is required to ensure risks to patients and their families are minimised.


Assuntos
Esclerose Amiotrófica Lateral/diagnóstico , Esclerose Amiotrófica Lateral/genética , Proteína C9orf72/genética , Expansão das Repetições de DNA/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Adulto , Feminino , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Humanos , Linhagem
13.
Genet Med ; 21(9): 1931-1939, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30816298

RESUMO

PURPOSE: The American College of Obstetricians and Gynecologists (ACOG) proposed seven criteria for expanded carrier screening (ECS) panel design. To ensure that screening for a condition is sufficiently sensitive to identify carriers and reduce residual risk of noncarriers, one criterion requires a per-condition carrier rate greater than 1 in 100. However, it is unestablished whether this threshold corresponds with a loss in clinical detection. The impact of the proposed panel design criteria on at-risk couple detection warrants data-driven evaluation. METHODS: Carrier rates and at-risk couple rates were calculated in 56,281 patients who underwent a 176-condition ECS and were evaluated for panels satisfying various criteria. Condition-specific clinical detection rates were estimated via simulation. RESULTS: Different interpretations of the 1-in-100 criterion have variable impact: a compliant panel would include between 3 and 38 conditions, identify 11-81% fewer at-risk couples, and detect 36-79% fewer carriers than a 176-condition panel. If the carrier rate threshold must be exceeded in all ethnicities, ECS panels would lack prevalent conditions like cystic fibrosis. Simulations suggest that the clinical detection rate remains >84% for conditions with carrier rates as low as 1 in 1000. CONCLUSION: The 1-in-100 criterion limits at-risk couple detection and should be reconsidered.


Assuntos
Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/métodos , Doenças Genéticas Inatas/genética , Testes Genéticos , Variações do Número de Cópias de DNA/genética , Feminino , Triagem de Portadores Genéticos/normas , Aconselhamento Genético/normas , Doenças Genéticas Inatas/diagnóstico , Guias como Assunto , Heterozigoto , Humanos , Masculino , Mutação/genética
14.
MedEdPORTAL ; 15: 10797, 2019 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-30800997

RESUMO

Introduction: Genetics is ubiquitous in OB-GYN. However, data suggest that trainees feel underprepared to counsel patients about genetic testing, the nuances of which are becoming increasingly complicated. We sought to develop and implement a genetics curriculum for OB-GYN residents. Methods: This five-module (screening for fetal aneuploidy, prenatal diagnostic testing, prenatal carrier screening, pedigrees, and cancer genetics), interactive, case-based curriculum is linked to Council on Resident Education in Obstetrics and Gynecology objectives and can stand alone or work as part of an ultrasound or obstetrics rotation. Each module, containing objectives, assigned readings, and cases with answers, is used in a small-group format and can be completed in 20-30 minutes prior to the start of a clinical day. Modules were implemented at two academic centers with first-year OB-GYN residents. Qualitative real-time feedback and summative quantitative feedback from OB-GYN residents were obtained. Results: Twenty-one OB-GYN residents completed the curriculum, which was well received by trainees and program directors. All residents (100%) felt the curriculum increased knowledge of prenatal genetics and felt more comfortable counseling patients after completion. Seventy-three percent enjoyed the discussion/case-based format; associated articles were found helpful by 100% of trainees. Facilitators enjoyed teaching the curriculum and felt learner knowledge improved dramatically. Discussion: These low-cost modules were easy to implement and resulted in increased knowledge and confidence in prenatal and cancer genetics. Designed to stand alone and take as little as 20 minutes, the modules provide a helpful adjunct to a women's health rotation or didactic curriculum.


Assuntos
Currículo/normas , Genética/educação , Internato e Residência/métodos , Saúde da Mulher/normas , Aneuploidia , Estágio Clínico/métodos , Feminino , Genes Neoplásicos/genética , Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/normas , Ginecologia/educação , Humanos , Conhecimento , Obstetrícia/educação , Gravidez/genética , Inquéritos e Questionários , Ultrassonografia Pré-Natal/normas
15.
Fam Cancer ; 18(2): 273-280, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30607672

RESUMO

Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31 years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30 years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was < 1% (2/233). Taking into consideration that TP53 mutation prevalence was comparable or even higher in some studies selecting patients with breast cancer onset at older ages or HER2-positive breast cancers, raises the question of whether a very early age of onset is an appropriate single TP53 genetic testing criterion.


Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Síndrome de Li-Fraumeni/genética , Proteína Supressora de Tumor p53/genética , Adolescente , Adulto , Fatores Etários , Idade de Início , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Análise Mutacional de DNA , Feminino , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Mutação em Linhagem Germinativa , Humanos , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/epidemiologia , Anamnese , Países Baixos/epidemiologia , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Adulto Jovem
16.
J Genet Couns ; 28(2): 378-387, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30629777

RESUMO

Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Genetics practitioners with genomic testing experience, were purposively invited to participate in a semi-structured telephone interview and to snowball the invitation to colleagues. Interviews conducted with participants residing in Australia (n = 9) and the UK (n = 5) were transcribed and analyzed using an inductive thematic approach. Three themes emerged: (a) Role delineation: current roles, future roles, and the influence of increasing complexity; (b) The evolving spectrum of practice: blurred boundaries between research and clinical services; impact on facilitation of informed consent; and return of results strategies; and (c) Policy and governance needs: equality of access; achieving consistent variant interpretation, reporting, and responsibility for review; managing incidental findings; and professional regulation for Australian genetic counselors. These exploratory data highlight that genetic counseling practice and the essential role of facilitating informed consent are evolving but remain patient-centered, with core skills underpinning practitioners' capacity to adapt.


Assuntos
Aconselhamento Genético , Testes Genéticos , Genômica , Consentimento Livre e Esclarecido , Adulto , Austrália , Aconselhamento Genético/ética , Aconselhamento Genético/normas , Aconselhamento Genético/tendências , Testes Genéticos/ética , Testes Genéticos/normas , Testes Genéticos/tendências , Genômica/ética , Genômica/normas , Genômica/tendências , Humanos , Consentimento Livre e Esclarecido/ética , Consentimento Livre e Esclarecido/normas , Pessoa de Meia-Idade , Reino Unido
17.
Expert Rev Mol Diagn ; 19(3): 201-215, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30657716

RESUMO

INTRODUCTION: Prenatal cell-free DNA screening for common fetal aneuploidies has rapidly changed the paradigm of prenatal care. Despite its advantages compared to conventional screening methods, its unexpectedly rapid implementation in clinical practice has generated several ethical and medical issues and misconceptions. Aggressive commercial marketing of cell-free DNA screening and media dissemination of misleading information have added confusion. Areas covered: This review provides an extensive update and will focus on the importance of pre-and post-test counseling for prenatal cell-free DNA screening not previously discussed extensively in the available literature. Additionally, we report cell-free DNA screening implementation in the largest obstetrical tertiary unit in Finland which is one of few countries that provides all prenatal screening methods free of charge for all women and has a very high uptake of first-trimester screening. This is not a systematical review, but rather a narrative overview which includes the most relevant and recent original publications and reviews covering this issue. Expert opinion: Despite being the most accurate method for screening of common fetal aneuploidies, the knowledge and counseling should be substantially improved. Cell-free DNA screening is not a replacement for diagnostic testing and its use in prenatal testing is complex and limited.


Assuntos
Aneuploidia , Transtornos Cromossômicos/diagnóstico , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Testes para Triagem do Soro Materno/métodos , Ácidos Nucleicos Livres/genética , Transtornos Cromossômicos/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Humanos , Testes para Triagem do Soro Materno/normas
18.
Br J Dermatol ; 180(2): 272-281, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30216406

RESUMO

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.


Assuntos
Terapia Comportamental/normas , Consenso , Fármacos Dermatológicos/uso terapêutico , Dermatologia/normas , Eritrodermia Ictiosiforme Congênita/terapia , Administração Oral , Administração Tópica , Terapia Comportamental/métodos , Dermatologia/métodos , Europa (Continente) , Aconselhamento Genético/normas , Humanos , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/psicologia , Qualidade de Vida , Apoio Social , Revisões Sistemáticas como Assunto
19.
Eur J Med Genet ; 62(6): 103529, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30165243

RESUMO

With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles reporting qualitative, quantitative or mixed studies that interviewed healthcare providers, participants, or society regarding this subject. The methodology was carefully analysed, in particular whether or not studies made the distinction between actionable and non-actionable SF, in a clinical or research context. From 2010 to 2016, 39 articles were compiled. A total of 14,868 people were interviewed (1259 participants, 6104 healthcare providers, 7505 representatives of society). When actionable and non-actionable SF were distinguished (20 articles), 92% of respondents were keen to have results regarding actionable SF (participants: 88%, healthcare providers: 86%, society: 97%), against 70% (participants: 83%, healthcare providers: 62%, society: 73%) for non-actionable SF. These percentages were slightly lower in the specific situation of children probands. For respondents, the notion of the «patient's choice¼ is crucial. For healthcare providers, the importance of defining policies for SF among diagnostic lab, learning societies and/or countries is outlined, in particular regarding the content and extension of the list of actionable genes to propose, the modalities of information, and the access to information about adult-onset diseases in minors. However, the existing literature should be taken with caution, since most articles lack a clear definition of SF and actionability, and referred to hypothetical scenarios with limited information to respondents. Studies conducted by multidisciplinary teams involving patients with access to results are sadly lacking, in particular in the medium term after the results have been given. Such studies would feed the debate and make it possible to measure the impact of such findings and their benefit-risk ratio.


Assuntos
Comportamento de Escolha , Aconselhamento Genético/psicologia , Testes Genéticos/ética , Achados Incidentais , Participação dos Interessados , Sequenciamento Completo do Exoma/ética , Atitude , Revelação , Aconselhamento Genético/normas , Humanos , Pacientes/psicologia
20.
Eur J Med Genet ; 62(5): 308-315, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30521983

RESUMO

Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did not consider this to be the right thing to do. In ABC v St Georges Healthcare NHS Trust ([2017] EWCA Civ 336) the healthcare team recorded their concern about the wisdom of the patient's decision to withhold genetic risk information from his relative, but chose to respect what they considered to be an unwise choice. Even though professional guidance considers that clinicians have the discretion to breach confidence where they believe this to be justified, (Royal College of Physicians, Royal College of Pathologists and the British Society of Human Genetics, 2006; GMC, 2017) clinicians find it difficult to exercise this discretion in line with their convictions against the backdrop of the legal prioritisation of the duty to maintain confidence. Thus, the professional discretion is not being freely exercised because of doubts about the legal protection available in the event of disclosure. The reliance on consent as the legal basis for setting aside the duty of confidence often vetoes sharing information with relatives. This paper argues that an objective approach based on privacy, rather than a subjective consent-based approach, would give greater freedom to clinicians to exercise the discretion which their professional guidance affords.


Assuntos
Aconselhamento Genético/normas , Predisposição Genética para Doença , Privacidade Genética/normas , Testes Genéticos/normas , Aconselhamento Genético/ética , Aconselhamento Genético/psicologia , Privacidade Genética/ética , Privacidade Genética/psicologia , Testes Genéticos/ética , Humanos
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