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1.
Med Clin North Am ; 103(6): 1077-1092, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582005

RESUMO

Compared to clinicians previously surveyed, primary care providers employed in a health system known for clinical genomics were more likely to have ordered or referred a patient for genetic testing, but had only modestly more genetics training and reported similarly low levels of comfort answering patient questions about genetic risk. Most supported population genomic screening, reported willingness to get screened themselves, and judged a hypothetical patient's decision to be screened favorably relative to a similar patient's decision to decline screening. Stakeholder perceptions of the ethical appropriateness of nudging at-risk patients to discuss testing with counselors were mixed.


Assuntos
Aconselhamento Genético , Testes Genéticos/métodos , Atenção Primária à Saúde , Aconselhamento Genético/ética , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Humanos , Medicina de Precisão/métodos , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/tendências , Sequenciamento Completo do Exoma
2.
Med Clin North Am ; 103(6): 967-976, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582007

RESUMO

Historically, both pretest and posttest genetic counseling has been standard of care for genetic testing. This model should be adapted for primary care providers (PCPs) willing to learn critical information about the test and key concepts that patients need to make an informed testing decision. It is helpful for PCPs to discuss a few initial patients with a genetic counselor to prepare for the key concepts of pretest and posttest counseling. This article provides guidance about the recommended level of involvement of PCPs based on the test indication, test complexity, disorder management, and the potential for psychosocial sequela.


Assuntos
Revelação , Aconselhamento Genético , Atenção Primária à Saúde , Aconselhamento Genético/ética , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Humanos , Guias de Prática Clínica como Assunto , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/normas
4.
Pediatr Blood Cancer ; 66(10): e27907, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31294517

RESUMO

BACKGROUND: Cancer predisposition syndromes (CPS) are caused by germline pathogenic variants that put an individual at increased risk of developing cancer throughout their lifetime. It is estimated that approximately 10-15% of children with cancer have an underlying CPS. Although research has investigated the clinical utility of genetic testing for children diagnosed with cancer, this study aimed to gain a deeper understanding of parental attitudes toward genetic testing in this population. PROCEDURE: Attitudes toward genetic counseling and testing among parents of children diagnosed with cancer were solicited through questionnaires distributed to a pediatric cancer clinic and online support groups. Quantitative data were analyzed using descriptive statistics and chi-square tests for association. RESULTS: The majority of participants had prior knowledge of genetic counseling (64.3%), yet most were not offered genetic counseling (59.5%). Fifty percent of parents reported interest in pursuing genetic counseling/testing and 31.0% reported uncertainty. Statistically significant associations were identified between interest in genetic counseling/testing and the child's age at diagnosis, child's sex, and participant annual income (P < .05). CONCLUSIONS: Parents of children diagnosed with cancer generally expressed interest in genetic counseling/testing; however, notable uncertainty was also reported. In light of this uncertainty, genetic counselors have an ideal skill set to engage families in their decision-making process as they weigh the benefits and drawbacks to pursuing genetic testing among this population. Demonstrated parental receptiveness to genomic technologies supports expansion of genetics providers in pediatric oncology care.


Assuntos
Atitude Frente a Saúde , Aconselhamento Genético/psicologia , Neoplasias/genética , Pais/psicologia , Adulto , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Masculino , Oncologia , Pediatria , Inquéritos e Questionários
5.
Support Care Cancer ; 27(10): 3647-3656, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31203511

RESUMO

PURPOSE: The primary aim of the present study was to conduct a systematic review of short-, intermediate- and long-term psychological effects, such as anxiety, depression and distress, on individuals undergoing genetic testing to determine BRCA1 and BRCA2 gene mutation. The different instruments used for the measurement of each construct were reported. In addition, risk and protective factors associated with psychological outcomes of genetic tests were explored. METHODS: Bibliographic databases were searched for studies published over the period 1998-2018. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method, 21 articles were selected for the current review. RESULTS: Overall, the collected data revealed rather diverse results, although most studies reported higher levels of distress, anxiety and depression in carriers, as compared to non-carriers. The two genders were not equally represented, with men constituting only 6% of the sample. Risk factors and protective factors that may influence psychological outcomes and adjustment to genetic tests are highlighted and discussed in this review. CONCLUSIONS: The increased risk of developing cancer associated with positive genetic testing results may be experienced as traumatic by many patients, although not all individuals with positive genetic testing results will experience increased distress. Hence, future studies should consider specific risk factors in order to select those who are more likely to be in need of psychological support. Finally, it is necessary to increase the number of male samples to better understand the male experience related to genetic testing outcomes.


Assuntos
Ansiedade/psicologia , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico , Depressão/psicologia , Estresse Psicológico/psicologia , Adulto , Neoplasias da Mama/psicologia , Feminino , Aconselhamento Genético/psicologia , Testes Genéticos , Humanos , Masculino , Mutação , Fatores de Proteção , Fatores de Risco
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.
Mol Genet Genomic Med ; 7(5): e618, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30838796

RESUMO

BACKGROUND: Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever before. As one of the most common single gene disorders affecting the UK population, hemophilia is an attractive candidate to include on such screening panels. However, very little is known about views toward genetic screening amongst people with hemophilia or their family members, despite the potential for a wide range of impacts on them. METHODS: Twenty-two in-depth qualitative interviews were undertaken to explore the views of adults with hemophilia and their family members, recruited through the Haemophilia Society UK. These interviews were used to develop a survey, the Haemophilia Screening Survey (UK), which was distributed in paper and online format through the support group, receiving 327 returns between January and June 2018. RESULTS: Fifty-seven per cent of the sample supported preconception carrier screening of the population for hemophilia, and 59% supported prenatal carrier screening. Key reasons for support included a desire to reduce pregnancy terminations and increase awareness of hemophilia. Despite support for screening however, 90% of the sample disagreed with pregnancy terminations for hemophilia. CONCLUSIONS: Families and adults living with hemophilia are more supportive of screening for information and preparation purposes than to prevent boys with hemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter.


Assuntos
Atitude , Triagem de Portadores Genéticos/ética , Aconselhamento Genético/psicologia , Hemofilia A/psicologia , Pacientes/psicologia , Adolescente , Adulto , Idoso , Família/psicologia , Feminino , Hemofilia A/genética , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Reino Unido
8.
Mol Genet Genomic Med ; 7(5): e636, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30895746

RESUMO

BACKGROUND: The IGNITE network funds six genomic medicine projects. Though interventions varied, we hypothesized that synergies across projects could be leveraged to better understand the participant experiences with genomic medicine interventions. Therefore, we performed cross-network analyses to identify associations between participant demographics and attitudes toward the intervention (attitude), plan to share results (share), and quality of life (QOL). METHODS: Data collection for demographics, attitude, share, and QOL surveys were standardized across projects. Recruitment and survey administration varied by each project's protocol. RESULTS: Participants (N = 6,817) were 67.2% (N = 4,584) female, and 37.4% (N = 3,544) were minority. Mean age = 54.0 (sd 14.a). Younger participants were as follows: (1) more positive in attitude pre-intervention (1.15-fold decrease/10-year age increase (OR)) and more negative after (1.14-fold increase OR); (2) higher in QOL pre-intervention (1.07-fold increase OR) and postintervention; (3) more likely to share results (1.12-fold increase OR). Race was significant when sharing results (white participants increased OR = 1.88), but not for change in QOL pre-postintervention or attitude. CONCLUSION: Our findings demonstrate the feasibility of this approach and identified a few key themes which are as follows: age was consistently significant across the three outcomes, whereas race had less of an impact than expected. However, these are only associations and thus warrant further study.


Assuntos
Atitude , Aconselhamento Genético/psicologia , Testes Genéticos , Terapia Genética/psicologia , Pacientes/psicologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
9.
Gynecol Oncol ; 153(1): 100-107, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30718125

RESUMO

OBJECTIVE: Despite current guidelines recommending women with ovarian cancer receive genetic risk evaluation by a genetic counselor, utilization has historically been low. We sought to assess the feasibility and effectiveness of a week-long mobile Application for Genetic Information on Cancer (mAGIC) intervention aimed to persuade women with ovarian cancer to pursue genetic counseling. METHODS: The mobile application intervention was based on the Fogg Behavior Model, and consisted of three parts: (1) identifying barriers, (2) developing motivators, and (3) providing triggers to action. The Health Belief Model was used to guide content development. We conducted a prospective, randomized, controlled pilot trial among 104 untested women with a history of epithelial ovarian, primary peritoneal or fallopian tube cancer with the primary objective of increasing uptake of cancer genetic counseling services. RESULTS: Utilization of cancer genetic counseling services improved in both study arms over historical controls, however there was no statistically significant difference between them (intervention: 54.5% versus control: 38.6%; p = 0.14). However, compared to controls, women randomized to the mAGIC intervention demonstrated greater knowledge of hereditary cancer (0-10 scale; 9.4 ±â€¯1.0 vs. 7.1 ±â€¯1.5; p < 0.0001), which persisted for at least three months. Additionally, 96% of women in the intervention group reported they had talked with their family about genetic counseling compared to 77% in the control group (p = 0.01). CONCLUSIONS: The mAGIC intervention did not result in increased uptake of genetic counseling, however it provided significant secondary benefits, including increased participants' knowledge about hereditary ovarian cancer, self-efficacy, and their reported communication with family members. ClinicalTrials.gov Identifier: NCT02877862.


Assuntos
Carcinoma Epitelial do Ovário/genética , Aconselhamento Genético/métodos , Telemedicina/métodos , Carcinoma Epitelial do Ovário/psicologia , Feminino , Aconselhamento Genético/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pessoa de Meia-Idade , Aplicativos Móveis , Projetos Piloto
10.
Am J Hum Genet ; 104(2): 193-196, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30735659

RESUMO

Clinical genetics and genomics will exert their greatest population impact by leveraging the rich knowledge of human behavior that is central to the discipline of behavioral medicine. We contend that more concerted efforts are needed to integrate these fields synergistically, and accordingly, we consider barriers and potential actions to hasten such integration.


Assuntos
Pesquisa Comportamental/métodos , Pesquisa Comportamental/organização & administração , Aconselhamento Genético/psicologia , Genética Médica/métodos , Genética Médica/organização & administração , Genômica/métodos , Genômica/organização & administração , Adesão à Medicação/psicologia , Feminino , Humanos , Adesão à Medicação/estatística & dados numéricos , Medicina de Precisão/psicologia , Saúde Pública/métodos
11.
BJOG ; 126(6): 784-794, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30767407

RESUMO

OBJECTIVE: To evaluate factors affecting unselected population-based BRCA testing in Ashkenazi Jews (AJ). DESIGN: Cohort-study set within recruitment to the GCaPPS trial (ISRCTN73338115). SETTING: North London AJ population. POPULATION OR SAMPLE: Ashkenazi Jews women/men >18 years, recruited through self-referral. METHODS: Ashkenazi Jews women/men underwent pre-test counselling for BRCA testing through recruitment clinics (clusters). Consenting individuals provided blood samples for BRCA testing. Data were collected on socio-demographic/family history/knowledge/psychological well-being along with benefits/risks/cultural influences (18-item questionnaire measuring 'attitude'). Four-item Likert-scales analysed initial 'interest' and 'intention-to-test' pre-counselling. Uni- and multivariable logistic regression models evaluated factors affecting uptake/interest/intention to undergo BRCA testing. Statistical inference was based on cluster robust standard errors and joint Wald tests for significance. Item-Response Theory and graded-response models modelled responses to 18-item questionnaire. MAIN OUTCOME MEASURES: Interest, intention, uptake, attitude towards BRCA testing. RESULTS: A total of 935 individuals (women = 67%/men = 33%; mean age = 53.8 (SD = 15.02) years) underwent pre-test genetic-counselling. During the pre-counselling, 96% expressed interest in and 60% indicated a clear intention to undergo BRCA testing. Subsequently, 88% opted for BRCA testing. BRCA-related knowledge (P = 0.013) and degree-level education (P = 0.01) were positively and negatively (respectively) associated with intention-to-test. Being married/cohabiting had four-fold higher odds for BRCA testing uptake (P = 0.009). Perceived benefits were associated with higher pre-counselling odds for interest in and intention to undergo BRCA testing. Reduced uncertainty/reassurance were the most important factors contributing to decision-making. Increased importance/concern towards risks/limitations (confidentiality/insurance/emotional impact/inability to prevent cancer/marriage ability/ethnic focus/stigmatisation) were significantly associated with lower odds of uptake of BRCA testing, and discriminated between acceptors and decliners. Male gender/degree-level education (P = 0.001) had weaker correlations, whereas having children showed stronger (P = 0.005) associations with attitudes towards BRCA testing. CONCLUSIONS: BRCA testing in the AJ population has high acceptability. Pre-test counselling increases awareness of disadvantages/limitations of BRCA testing, influencing final cost-benefit perception and decision-making on undergoing testing. TWEETABLE ABSTRACT: BRCA testing in Ashkenazi Jews has high acceptability and uptake. Pre-test counselling facilitates informed decision-making.


Assuntos
Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Testes Genéticos , Síndrome Hereditária de Câncer de Mama e Ovário , Judeus , Adulto , Atitude Frente a Saúde/etnologia , Características Culturais , Feminino , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/psicologia , Testes Genéticos/economia , Testes Genéticos/estatística & dados numéricos , Síndrome Hereditária de Câncer de Mama e Ovário/etnologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Humanos , Judeus/genética , Judeus/psicologia , Londres , Masculino , Mutação , Participação do Paciente/estatística & dados numéricos , Fatores Socioeconômicos
12.
Gynecol Oncol ; 153(1): 108-115, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30638766

RESUMO

OBJECTIVE: Genetic testing identifies cancer patients who may benefit from targeted treatment and allows for enhanced cancer screening and risk-reduction in their at-risk relatives. Traditional models of genetic counseling (GC) cannot meet the increasing demand and urgency for genetic testing. The objective of this study was to evaluate a new model of service delivery to improve the efficiency of pre-test GC for panel-based genetic testing. METHODS: A parallel, two-armed, randomized non-inferiority study compared traditional and modified pre-test GC models (1:2) prior to panel-based genetic testing. Participants were adult females, whose first-degree relative died of serous ovarian cancer. In the modified group, participants were emailed a 20-minute presentation prior to a scheduled pre-test GC telephone call. Psychosocial and knowledge questionnaires were provided at baseline (P1) and one week after pre-test GC (P2). RESULTS: 382 women completed pre-test GC (256 modified, 126 traditional). There were no differences in marital status, education level or household income. Pre-test GC time was shorter in the modified group (average 19 vs. 46 min, p < 0.001), with no difference in post-test GC time (average 16 min each, p = 0.78). The modified pre-test GC model was found to be non-inferior to traditional GC on measures of cancer-specific distress, depression, anxiety, decisional conflict, ovarian cancer knowledge and satisfaction. Perceived lifetime risk for ovarian cancer decreased to a lesser extent from baseline in women who received modified pre-test GC. CONCLUSIONS: A 20-minute presentation prior to pre-test telephone GC is non-inferior to traditional in-person GC on all variables tested, except for perceived ovarian cancer risk. This modified model improved GC efficiency without negatively affecting psychosocial outcomes, providing an alternative strategy to meet the growing demand for genetic testing.


Assuntos
Aconselhamento Genético/métodos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Técnicas de Apoio para a Decisão , Feminino , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Humanos , Pessoa de Meia-Idade , Modelos Psicológicos
13.
J Genet Couns ; 28(1): 164-173, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30688387

RESUMO

Physician aid-in-dying (PAD) is now legalized in more than half a dozen states across the United States yet remains controversial among health care providers and the general public. Previous studies have described physicians' and nurses' experiences with and attitudes about PAD; however, there is no data about PAD in the context of genetic counseling. This study explores genetic counselors' experiences, understanding, training, and perspectives about PAD. Fifteen participants were recruited to complete semistructured telephone interviews. Five participants had received patient inquiries about PAD. Most participants (n = 10) did not feel prepared to discuss PAD with patients and felt that they did not have adequate knowledge to answer patient questions about the practice. Participants described how the unique training, skills, and experiences of genetic counselors could be beneficial for discussing PAD with patients, in comparison to other providers. All participants supported training for genetic counselors about PAD, with many suggesting integration with education about palliative care and end-of-life planning. This is the first study to investigate PAD in the context of genetic counseling. Genetic counselors have had patients ask questions about PAD, want education and access to resources about PAD, and believe they can provide important support and guidance to patients considering PAD in some genetic counseling contexts.


Assuntos
Conselheiros/psicologia , Aconselhamento Genético/psicologia , Suicídio Assistido/psicologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cuidados Paliativos , Estados Unidos
14.
Eur J Med Genet ; 62(5): 390-396, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30599214

RESUMO

Providing risk information is central to genetic counseling. Many studies have examined risk communication, but the focus has been on professional and patient perspectives. Less information is available on risk communication in interactions. This study aimed to examine genetic counselors' (GCs) risks communication in multicultural genetic counseling sessions with women of advanced maternal age (AMA). Six GCs (2-20 years' experience) conducted AMA sessions in English (women's second language). The sessions were video and voice recorded and transcribed verbatim. Data were analysed using conversation analysis (CA). CA examines discourse as a topic, i.e. describing the turns, its functions and how these functions are accomplished. Analysis revealed that the GCs presented the risk of having a baby with a chromosome abnormality in several ways and that they invite the women to reflect on the risk information. This discussion was found to be a five step process and showed that the women responded to the invitation to reflect rather than the risk information itself by providing additional information. The counselors in the majority of the sessions responded to this additional information the women provided. It therefore seems that the way in which risks are presented are less important than the meaning of the risks for the women. The research showed the power of interactional research such as CA methodology to gain new insights into old problems. Importantly, the study revealed some on the nuances of risk communication in genetic counseling and has implications for practice.


Assuntos
Aconselhamento Genético/métodos , Doenças Genéticas Inatas/psicologia , Revelação da Verdade , Adulto , Atitude , Feminino , Aconselhamento Genético/psicologia , Doenças Genéticas Inatas/diagnóstico , Comunicação em Saúde , Humanos , Idade Materna , Pessoa de Meia-Idade , Gravidez , África do Sul
15.
Med Health Care Philos ; 22(1): 31-40, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29705970

RESUMO

Direct-to-consumer genetic testing (DTC GT) has been available for several years now, with varying degrees of regulation across different countries. Despite a restrictive legal framework it is possible for consumers to order genetic tests from companies located in other countries. However, German laypeople's awareness and perceptions of DTC GT services is still unexplored. We conducted seven focus groups (participants n = 43) with German laypeople to explore their perceptions of and attitudes towards commercial genetic testing and its ethical implications. Participants were critical towards DTC GT. Criticism was directed at health-related, predictive testing, while lifestyle tests were accepted and even welcomed to some extent. Participants expressed strong reservations regarding commercial provision of genetic diagnostics and expressed a lack of trust in respective companies. They preferred non-commercial distribution within the public healthcare system. Participants also expressed high expectations of physicians' abilities to interpret information obtained via DTC GT companies and provide counseling. Legal restrictions on commercial distribution of genetic tests were opposed, with participants arguing that it should be available to consumers. DTC GT companies are not perceived as trustworthy when compared to the public healthcare system and its professional ethical standards and practices. Laypeople rated general consumer autonomy higher than their own concerns, thus recommending against strong legal regulation. We conclude that medicine's trustworthiness may be negatively affected if commercial provision is not visibly opposed by the medical professions, while DTC GT companies may gain in trustworthiness if they adapt to standards and practices upheld in medicine.


Assuntos
/ética , Atitude Frente a Saúde , Comportamento do Consumidor , Triagem e Testes Direto ao Consumidor/psicologia , Aconselhamento Genético/psicologia , Triagem e Testes Direto ao Consumidor/ética , Aconselhamento Genético/ética , Testes Genéticos/ética , Alemanha , Humanos , Percepção Social
16.
J Immigr Minor Health ; 21(2): 434-437, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29882171

RESUMO

Barriers to genetic counseling services (GCS) utilization for Spanish-speaking patients (SSP) may include language barriers and limited availability of bilingual genetic counselors (GCs). The sample included GCs who: (1) practice cancer genetic counseling, (2) report a cancer practice setting, and (3) have a US mailing address. We assessed: (1) number of Spanish-speaking GCs, (2) estimated proportion of Hispanic patients, and (3) approaches used to counsel SSP. Of respondents (n = 229), 10% (n = 23) spoke Spanish. A higher proportion of GCs practicing in states with ≥ 25% Hispanics reported speaking Spanish compared to those in states with lower Hispanic populations (p = 0.02). While there was a significantly higher percentage of Spanish-speaking GCs in states with larger Hispanic populations, the absolute number was low and unlikely to meet the needs of patients. There is need to increase availability of GCS for SSPs and to understand the impact of services on patient health outcomes.


Assuntos
Barreiras de Comunicação , Aconselhamento Genético/psicologia , Testes Genéticos , Hispano-Americanos/psicologia , Neoplasias/prevenção & controle , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Atitude Frente a Saúde , Feminino , Humanos , Neoplasias/etnologia , Neoplasias/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/etnologia
17.
Genet Med ; 21(3): 748-752, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29997389

RESUMO

PURPOSE: Studies on returning variants of uncertain significance (VUS) results have predominantly included patients with a personal or family history of cancer and cancer-associated gene VUS. This study examined health behaviors among participants with cardiomyopathy-associated gene VUS, but without a personal history of cardiomyopathy. METHODS: Sixty-eight eligible participants without apparent cardiomyopathy but with VUS in cardiomyopathy-associated genes completed a survey of health behaviors, disclosure, distress, uncertainty, positive experiences, decisional conflict, and perceived value. The medical records of participants who reported cardiac testing because of their VUS were reviewed for testing indication(s). RESULTS: Two participants had cardiac testing due to their VUS alone. Four had cardiac testing because of their VUS and other clinical indications. Twelve changed health behaviors, including one participant who was subsequently diagnosed with cardiomyopathy. Distress, uncertainty, and decisional conflict were low (means = 1.2, 4.2, and 24.5 (scale ranges = 0-30, 0-45, and 15-75), respectively), and positive experiences and perceived value were moderate (means = 12.4 and 14.4 (scale ranges = 0-20 and 4-20), respectively). Greater perceived value was associated with greater likelihood to engage in health behaviors (P = 0.04). CONCLUSION: Positive VUS results can be returned to apparently unaffected individuals with modest use of healthcare resources, minimal behavioral changes, and favorable psychological reactions.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos/ética , Comportamentos Relacionados com a Saúde/ética , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Cardiomiopatias/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Variação Genética/genética , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pessoa de Meia-Idade , Estresse Psicológico , Inquéritos e Questionários , Incerteza
18.
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
19.
Fam Cancer ; 18(2): 231-239, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30238178

RESUMO

Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women diagnosed with breast cancer before the age of 31, irrespective of family history, should be offered TP53 genetic testing. This study aims to gain more knowledge on the attitudes and experiences among genetics professionals regarding the timing and content of genetic counselling of young breast cancer patients for Li-Fraumeni syndrome (LFS). We conducted a nationwide online survey among genetics professionals who provide cancer genetic counselling in the Netherlands. Fifty-seven professionals completed the questionnaire (response rate overall 54%, clinical geneticists 70%). Most respondents reported that they discuss the option of TP53 genetic testing-simultaneously with BRCA 1/2-during the initial counselling visit, especially in case of referral for treatment-focused genetic counselling. There was a general consensus about ten information items that should be discussed during counselling. Sixty-one percent of genetics professionals did not encounter difficulties in providing genetic counselling for LFS, but a substantial minority (29%) did. This study offers valuable insight, which will be useful for clinical practice. Studies which address young breast cancer patients' attitudes and preferences regarding the timing and content of counselling are warranted to further determine the most appropriate genetic counselling strategy for these women.


Assuntos
Atitude do Pessoal de Saúde , Neoplasias da Mama/diagnóstico , Aconselhamento Genético/psicologia , Síndrome de Li-Fraumeni/diagnóstico , Relações Profissional-Paciente , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Estudos Transversais , Feminino , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/psicologia , Países Baixos , Proteína Supressora de Tumor p53/genética , Adulto Jovem
20.
Eur J Hum Genet ; 27(1): 22-27, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30206353

RESUMO

Predictive testing for Huntington disease (HD) in 25% at-risk individuals is testing with full knowledge, and sometimes assuming, that the parent does not want to know his status. The goal of this study was to understand: (1) the differences in the motivation between 25% and 50% at-risk individuals to be tested and (2) the consequences of "double disclosure", including parental reactions. Test requests from 25% at-risk individuals were rare (155/1611, 10%). We compared their motivation with those of 1456 50% at-risk individuals. The principal motivation to have the test for both groups was "to know" (48% versus 58%, p = 0.049), but the desire to have children was more frequent in the 25% at-risk group (32% versus 17%, p < 0.001). Sixty percent of the 25% at-risk group went through the testing procedure: 15% (n = 14) were variant positive for HD. Testees reported four adverse reactions of their parent (22%): one committed suicide and three became depressed. This result highlights the impact of "double disclosure", a bad result for the person themselves and the transmitting parent. It is the responsibility of the team to anticipate this outcome with the 25% at-risk individuals: children revealing the genetic status to their parent. They should help the testees and their family to find a satisfactory solution to help prevent adverse reactions. This includes ensuring that the candidate is well-infomed abour the testing options and consequences to her/himself but also to her/his parent. The at-risk parent should be offered to discuss the implications of their child's testing.


Assuntos
Revelação , Triagem de Portadores Genéticos/ética , Aconselhamento Genético/psicologia , Doença de Huntington/psicologia , Relações Pais-Filho , Adulto , Criança , Triagem de Portadores Genéticos/métodos , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Pais/psicologia
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