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1.
BMC Pregnancy Childbirth ; 20(1): 112, 2020 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-32066398

RESUMO

BACKGROUND: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. METHODS: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. RESULTS: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. CONCLUSIONS: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women.


Assuntos
Emoções , Resultados Negativos , Teste Pré-Natal não Invasivo , Parto/psicologia , Gestantes/psicologia , Tomada de Decisões , Feminino , Aconselhamento Genético/psicologia , Humanos , Japão/epidemiologia , Gravidez , Pesquisa Qualitativa , Meio Social , Inquéritos e Questionários
2.
Prostate ; 80(5): 441-450, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32027768

RESUMO

BACKGROUND: Guidelines have changed recently to include genetic counseling (GC) and/or genetic testing (GT) for all men with aggressive prostate cancer (PCa). This study aimed to identify what information men with PCa desire before and from GC. METHODS: Focus groups were conducted with men who have PCa. Audio recordings were analyzed for themes related to GT, the information they desired from health care providers, and implications for family members. RESULTS: Thirty-seven men with PCa participated in seven focus groups. Nearly all men felt GT was beneficial and impactful for their family and themselves. Most men were unaware of the risks to female relatives associated with hereditary cancer. Participants discussed that genetics should be incorporated at an appropriate time of their diagnostic journey. CONCLUSION: This study showed that men valued GC and GT for personal and familial implications, and often did not associate PCa genetics with risk for female relatives to develop cancer. Consideration should be given to the GC timing in regard to where men are in their treatment process. Providers referring patients can leverage patient motivations and utilize their relationship with the patient to determine the appropriate timing and personalize discussion with the patient regarding GC and GT.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos/métodos , Neoplasias da Próstata/genética , Neoplasias da Próstata/psicologia , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Estudos de Avaliação como Assunto , Humanos , Masculino , Pessoa de Meia-Idade , Educação de Pacientes como Assunto , Encaminhamento e Consulta
3.
Support Care Cancer ; 28(10): 4833-4845, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31982959

RESUMO

OBJECTIVE: Adolescent and young adult (AYA) cancer patients have distinct medical and psychosocial needs and fertility is a key concern. Early age of onset is a risk factor for hereditary cancer and AYAs are more likely to experience reduced fertility. This has implications for future family building decisions and fertility preservation (FP) and genetic testing/counseling (GT/GC) education. METHODS: Patients diagnosed with cancer between the ages of 18 and 39 and health care providers (HCPs) who treat AYA cancer patients were recruited from a single institution. Qualitative interviews explored AYA patients' and HCPs' concerns regarding their experiences discussing genetics and FP. RESULTS: The majority of patients (n = 17) were female (59%), and the majority of HCPs (n = 18) were male (67%). Overall, participants had differing perceptions of FP and GT/GC-related information provided during the clinical visit. Patients indicated initiating the conversation about FP and did not recall HCPs discussing GT/GC with them. HCPs indicated patients were often overwhelmed with too much information and comprehension of this discussion is limited. HCPs also felt patients' emotions/beliefs determined their information-seeking behavior specific to FP and GT/GC. Participants felt educational materials should be developed and delivered in a video format depicting a patient-provider interaction or patient testimonial. CONCLUSION: AYA patients are often overwhelmed by a cancer diagnosis; the complexity/volume of information regarding FP and GT/GC may hinder understanding and decision-making about family building. Educational materials that help patients understand what questions to ask HCPs about FP and GT/GC should be developed to improve knowledge, psychosocial well-being, and future family building decisions.


Assuntos
Preservação da Fertilidade/psicologia , Aconselhamento Genético/psicologia , Pessoal de Saúde/psicologia , Neoplasias/genética , Neoplasias/psicologia , Adolescente , Adulto , Fatores Etários , Comunicação , Compreensão , Aconselhamento , Tomada de Decisões , Feminino , Preservação da Fertilidade/métodos , Aconselhamento Genético/métodos , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Neoplasias/terapia , Adulto Jovem
4.
Curr Opin Psychiatry ; 33(2): 136-140, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31770136

RESUMO

PURPOSE OF REVIEW: Advances in personal genomics have made predictive genetic testing increasingly popular. The purpose of this review is to examine and summarize recent literature regarding the ethical concerns and considerations surrounding genetic testing for Alzheimer's disease. RECENT FINDINGS: Four basic bioethical principles can be applied in the context of genetic testing: autonomy, nonmaleficence, beneficence and justice. The concepts of clinical validity, clinical utility and personal utility are also necessary for the ethical deliberation of genetic testing for Alzheimer's disease. Ethical considerations can differ among three distinct settings present in the literature: research, clinical and direct-to-consumer services. Studies have found that the negative psychosocial impact of genetic test results on the individual is limited, but emphasize the importance of pre/posttesting genetic counselling. SUMMARY: The literature should ideally inform policy-making around genetic testing. There exists an urgent need for regulation, particularly in the direct-to-consumer (DTC) market, since interest for testing in this context is rapidly growing. Standardized protocols for disclosure should be developed, and there is a need to find ways to meet the growing need for genetic counselling. Importantly, comprehensive, evidence-based regulation requires that research be conducted in different contexts with more diverse participants.


Assuntos
Doença de Alzheimer , Aconselhamento Genético/psicologia , Testes Genéticos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Doença de Alzheimer/psicologia , Testes Genéticos/ética , Testes Genéticos/normas , Humanos , Utilização de Procedimentos e Técnicas , Reprodutibilidade dos Testes
5.
J Genet Couns ; 29(1): 67-77, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31721370

RESUMO

This study assessed genetic counselors' (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time-consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re-allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re-allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill-set.


Assuntos
Atitude do Pessoal de Saúde , Conselheiros/psicologia , Aconselhamento Genético/psicologia , Feminino , Humanos , Satisfação no Emprego , Masculino , Inquéritos e Questionários , Recursos Humanos
6.
J Genet Couns ; 29(1): 25-34, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31701601

RESUMO

Despite the high demand for psychiatric genetic counseling among people with psychiatric conditions (>90%), surveys show that genetic counselors rarely receive primary referrals for psychiatric cases. The purpose of this study was to further investigate potential barriers to the provision of psychiatric genetic counseling services, focusing specifically on the prevalence and impact of psychiatric stigmatization among genetic counselors. Board-certified, practicing genetic counselors were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Survey measures included a validated psychiatric stigmatization scale (OMS-HC) and questions assaying genetic counselors' experiences with and opinions of psychiatric genetic counseling. Associations between psychiatric stigmatization and attitudes toward and practice related to psychiatric genetic counseling were computed using Pearson's correlation. The majority of respondents believed that psychiatric genetic counseling is of value to families (94%) and that it is indicated if there is a relevant personal or family history (90.3%), but only 44.6% reported providing this service. On average, respondents scored neutrally on psychiatric stigma scales; however, higher stigma levels were associated with less frequent psychiatric discussions (p = .05), less counselor comfort and perceived qualification (p = .003) and perceptions of having insufficient psychiatric genetic data (p < .02), resources (p < .02) and time (p < .03). This study suggests that the limits of psychiatric genetics research and unavailability of genetic testing lead many genetic counselors to doubt the utility of psychiatric genetic counseling. Should this mindset persist, without the intervention of psychiatric education and training, the field of genetic counseling risks continuing to inadequately serve a historically underserved population.


Assuntos
Atitude do Pessoal de Saúde , Conselheiros/psicologia , Aconselhamento Genético/psicologia , Transtornos Mentais/terapia , Adulto , Feminino , Testes Genéticos , Humanos , Masculino , Inquéritos e Questionários
7.
Psychooncology ; 29(3): 550-556, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31823434

RESUMO

BACKGROUND: Increasingly complex genetics counseling requires guidance to facilitate counselees' psychosocial adjustment. We explored networks of inter-relationships among coping strategies and specific psychosocial difficulties in women tested for hereditary breast or ovarian cancer. METHODS: Of 752 counselees consecutively approached, 646 (86%) completed questionnaires addressing coping strategies (Brief-COPE) and psychosocial difficulties (PAHC) after the initial genetic consultation (T1), and 460 (61%) of them again after the test result (T2). We applied network analysis comparing partial correlations among these questionnaire scales, according to the type of genetic test - single gene-targeted or multigene panel, test result and, before and after testing. RESULTS: Overall, 98 (21.3%), 259 (56.3%), 59 (12.8%) and 44 (9.6%) women received a pathogenic variant, uninformative negative (panel testing), variant of uncertain significance (VUS) or true negative (targeted testing) result, respectively. In most networks, connections were strongest between avoidance and general negative emotions. Cognitive restructuring was inter-related to lower psychosocial difficulties. Avoidance and familial/social relationship difficulties were strongly related in women receiving a pathogenic variant. Stronger inter-relationships were also noticed between avoidance and worries about personal cancer and concerns about hereditary predisposition in women receiving a VUS result. Differences in the prominence of inter-relationships were observed by type of testing and assessment time. CONCLUSIONS: Network analysis may be fruitful to highlight prominent inter-relationships among coping strategies and psychosocial difficulties, in women tested for HBOC susceptibility, offering guidance for counseling.


Assuntos
Neoplasias da Mama/psicologia , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Síndromes Neoplásicas Hereditárias/psicologia , Neoplasias Ovarianas/psicologia , Adulto , Ansiedade/psicologia , Neoplasias da Mama/diagnóstico , Feminino , Testes Genéticos/estatística & dados numéricos , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Qualidade de Vida/psicologia , Inquéritos e Questionários , Saúde da Mulher/estatística & dados numéricos
8.
Eur J Cancer Care (Engl) ; 29(1): e13173, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31571365

RESUMO

BACKGROUND: We performed a comprehensive assessment of the psychometrics of the "Psychosocial Aspects in Hereditary Cancer" (PAHC) questionnaire in French, German and Spanish. METHODS: Women consecutively approached in Cancer Genetic Clinics completed the PAHC, distress and satisfaction questionnaires at pre-testing (T1) and after test result disclosure (T2). In addition to standard psychometric attributes, we assessed the PAHC ability to respond to change (i.e. improvement or deterioration from T1 to T2) in perceived difficulties and computed minimal important differences (MID) in PAHC scores as compared with self-reported needs for additional counselling. RESULTS: Of 738 eligible counselees, 214 (90%) in France (Paris), 301 (92%) in Germany (Cologne) and 133 (77%) in Spain (Barcelona) completed the PAHC. A six-factor revised PAHC model yielded acceptable CFA goodness-of-fit indexes and good all scales internal consistencies. PAHC scales demonstrated expected conceptual differences with distress and satisfaction with counselling. Different levels of psychosocial difficulties were evidenced between counselees' subgroups and over time (p-values < .05). MID estimates ranged from 8 to 15 for improvement and 9 to 21 for deterioration. CONCLUSION: The PAHC French, German and Spanish versions are reliable and valid for evaluating the psychosocial difficulties of women at high BC risk attending genetic clinics.


Assuntos
Neoplasias da Mama/psicologia , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Angústia Psicológica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/genética , Análise Fatorial , Feminino , França , Testes Genéticos , Alemanha , Humanos , Pessoa de Meia-Idade , Diferença Mínima Clinicamente Importante , Determinação de Necessidades de Cuidados de Saúde , Psicometria , Reprodutibilidade dos Testes , Espanha , Inquéritos e Questionários , Traduções , Adulto Jovem
9.
Per Med ; 17(1): 55-65, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31597544

RESUMO

Aim: To determine UK genetic counselors' (UKGCs) opinion regarding 'the psychosocial component of the UKGC remit in the new genomics era'. Methods: Facilitated discussions at a national conference (2016) using interactive methodologies (58 participants). Results: UKGCs recognized the rapid rate of change emerging with advances in genomic science. Change will be required to the UKGC remit and the roles, rules, relationships and responsibilities that underpin it (29 topics identified). UKGCs supported their 'unique selling point'; integrating knowledge and the explicit focus on psychosocial aspects of genomic healthcare. By 2019, some of the aspirations have been achieved. Conclusion: UKGCs should proactively position themselves to capitalize on the challenges and opportunities of genomic healthcare to maximize patient benefit.


Assuntos
Aconselhamento Genético/psicologia , Genômica/métodos , Congressos como Assunto , Humanos , Relações Profissional-Paciente , Reino Unido
10.
J Genet Couns ; 29(1): 18-24, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31553110

RESUMO

Patients at risk for hereditary cancer syndromes sometimes decline clinically appropriate genetic testing. The purpose of the current study was to understand what preferences, concerns, and desires informed their refusal as well as their current level of interest in being tested. We interviewed patients who had been seen in a hereditary cancer clinic at Vanderbilt University Medical Center and had declined genetic testing. In all, 21 in-depth, semi-structured qualitative interviews were conducted. Although patients provided many reasons for declining testing, they most often cited their psychosocial state at the time of the initial invitation to participate in genetic testing as their reason for refusal. The majority (67%) said that they either would or had changed their mind about testing if/when their clinicians 'mentioned it again'. Patients at risk for hereditary cancer who refuse testing at the time of genetic counseling may later change their mind. In particular, if a patient declines testing around the time of a major medical diagnosis or intervention, clinicians who are providing ongoing care may want to raise the topic afresh after the patient has had time to recover from initial distress related to diagnosis or treatment. Strategies to prompt clinicians to have these conversations are suggested.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos , Síndromes Neoplásicas Hereditárias/genética , Adulto , Comunicação , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/psicologia
11.
Acta Oncol ; 59(1): 60-65, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31379231

RESUMO

Background: Preoperative genetic testing affects the surgical decision-making among women with breast cancer. To avoid breast-conserving surgery and to offer the possibility of mastectomy with immediate reconstruction in high-risk patients, genetic testing for pathogenic variants in BRCA1 or BRCA2 and a pedigree-based familial breast cancer risk assessment was offered to younger women with breast cancer in Denmark. We evaluated the impact of the risk stratification through genetic counseling on the uptake of contralateral prophylactic mastectomy (CPM).Material and methods: The prospective cohort study included all women with unilateral breast cancer before the age of 45 who participated in a genetic counseling program during their primary diagnostics in the Central Denmark Region (2013-2018). Each patient was followed from the time of the genetic test result to the end of follow-up to estimate the long-term uptake of CPM as a competing risk-adjusted cumulative incidence. We compared the uptake of CPM between the various genetic risk categories, ages of onset, and family histories in a multivariable Cox proportional hazards regression model, reporting hazard ratios (HR) with two-sided 95% confidence intervals (CIs).Results: 156 females, aged 21-44, learned their genetic test result within a median of 92 days [interquartile range (IQR): 75-114]. The maximal follow-up was 3.8 years (median 1.8; IQR: 0.49-2.5), after which 33% (95% CI: 24-42%) of the patients had undergone CPM. The uptake of CPM was inversely associated with the age of onset (HR 0.92; 95% CI: 0.86-0.98) and significantly higher among BRCA carriers (HR 2.9; 95% CI: 1.3-6.8) and patients from the high risk of breast cancer families (HR 5.6; 95% CI: 1.9-16) compared to the lower genetic risk categories.Conclusion: The risk stratification obtained through genetic counseling had a considerable impact on the surgical decision-making among younger women with breast cancer at long-term follow-up.


Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/psicologia , Neoplasias da Mama/cirurgia , Aconselhamento Genético/métodos , Mutação , Mastectomia Profilática/psicologia , Adulto , Neoplasias da Mama/genética , Tomada de Decisões , Feminino , Aconselhamento Genético/psicologia , Humanos , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Estudos Prospectivos , Adulto Jovem
12.
Ann Lab Med ; 40(3): 232-237, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31858763

RESUMO

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by GC practitioners in Korean hospitals. METHODS: An electronic survey was designed and conducted in 52 certified laboratory physicians belonging to the Korean Society of Laboratory Medicine, from August to September 2018. The questionnaires addressed three main categories of information: (1) current status of GC in hospitals; (2) essential qualifications of GC practitioners; and (3) challenges and perspectives for GC. Fisher's exact test was applied to analyze categorical data. RESULTS: Among a total of 52 participants who initially responded, 12 (23.1%) were performing GC either by direct or indirect care. GC clinics were opened regularly for one (33.3%) or more than three sessions (25.0%) per week; most respondents spent more time for pre-visit activities than in-person visits, both for a initial visit patient and for a follow-up visit patient. All laboratory physicians provided genetic information to their patients. Most recommended family genetic testing when indicated (91.7%), discussed disease management (75.0%), and/or ordered additional genetic testing (58.3%), and some referred patients to other specialists (8.3%). CONCLUSIONS: Both patients and laboratory physicians concede the advantage of GC performed by clinical geneticists; however, the practice of GC involves several challenges and raises some concerns. The cost and support required to implement GC need to be addressed in order to provide qualified GC in Korea.


Assuntos
Aconselhamento Genético/psicologia , Médicos/psicologia , Testes Genéticos , Humanos , República da Coreia , Sociedades Médicas , Inquéritos e Questionários
13.
J Genet Couns ; 29(1): 97-104, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31663200

RESUMO

The genetic counseling profession is 50 years old, and is growing and diversifying. Despite this evolving context, no studies have formally explored the continuing relevance or appropriateness of the title "genetic counselor." We used a qualitative research methodology (interpretive description) to explore this concept among thought leaders within the genetic counseling profession. We conducted 12 semi-structured telephone interviews, which ranged in length from 18 to 50 min, and transcribed them verbatim. Analysis and data collection unfolded in parallel. The following themes regarding participants' perceptions of the title "genetic counselor" emerged from the data: (1) others misunderstand "genetic counselor"; (2) the term "counselor" in our title produces complex and conflicting emotions; (3) risks of changing our title outweigh the benefit; and (4) we need to own the narrative surrounding our title. Despite recognition that the title "genetic counselor" may not capture the full range of diverse roles members of the profession play, our data reveal overall support for the continued relevance and appropriateness of the title, for the value of the strength that comes from unity within the profession, and for efforts to highlight that which unites us across roles, disciplines, and specialties.


Assuntos
Conselheiros/psicologia , Aconselhamento Genético/psicologia , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Pesquisa Qualitativa , Projetos de Pesquisa
14.
Expert Rev Mol Diagn ; 19(12): 1117-1129, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31709839

RESUMO

Introduction: Carrier screening for recessive disorders is undertaken by prospective parents to inform their reproductive decisions. With the growing availability of affordable and comprehensive expanded carrier screening (ECS), it is expected that carrier screening will become a standard practice in the future. However, the impact of positive carrier screening results on the reproductive decisions of at-risk couples (ARCs) remains underexplored.Areas covered: We performed a systematic literature review to identify peer-reviewed publications describing the reproductive decisions of ARCs. Our search identified 19 relevant publications spanning the period 1994-2018. By synthesizing available evidence, we found that most ARCs chose to prevent the birth of an affected child and the decision to utilize preventive reproductive options was strongly influenced by the clinical nature of a disorder. However, there was also some heterogeneity in reproductive decisions within the same recessive disorders, suggesting that choices of ARCs can be influenced by factors other than the clinical nature of a disorder.Expert opinion: ECS is becoming increasingly common, which will result in the routine identification of many ARCs. Reproductive decision-making by ARCs is a complex and emotionally challenging process, highlighting the critical role of genetic counseling in the care for these potentially vulnerable patients.


Assuntos
Tomada de Decisões , Doenças Genéticas Inatas/psicologia , Heterozigoto , Comportamento Reprodutivo/psicologia , Triagem de Portadores Genéticos/ética , Triagem de Portadores Genéticos/estatística & dados numéricos , Aconselhamento Genético/psicologia , Aconselhamento Genético/estatística & dados numéricos , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Diagnóstico Pré-Implantação/psicologia , Diagnóstico Pré-Implantação/estatística & dados numéricos , Comportamento Reprodutivo/estatística & dados numéricos
15.
Tunis Med ; 97(3): 426-431, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31729716

RESUMO

BACKGROUND: Performing genetic counseling is one of the tasks of every paediatrician. This assumes prior training during the residency. AIM: To assess the impact of role-play (RP) for training of paediatric residents in genetic counseling and participants' perception. METHODS: Repetitive cross-sectional evaluation study. During two RP sessions, two residents played the role of the parents of a patient with cystic fibrosis, and another the role of the doctor. Residents had an evaluation by standardized patient exercises immediately before and after the session. Test scores were compared by the Wilcoxon rank test for associated samples. A satisfaction questionnaire was completed by the participants anonymously. RESULTS: Post-test scores were better than pre-test scores overall (p = 0.002) and for items in the cognitive domain (p = 0.002). Of the 12 participants, only one had had previous training in genetic counseling. All participants were satisfied with the learning and felt that it would change the way they practice. All participants thought they could do genetic counseling autonomously, but nine of them wanted to have other RP sessions on the same theme. Only one participant found the session stressful and all wanted to multiply this type of sessions for other learning. CONCLUSION: RP is an effective and well-accepted means for genetic counseling training. It should be integrated with paediatric resident training.


Assuntos
Aconselhamento Genético , Internato e Residência/métodos , Pediatria/educação , Desempenho de Papéis , Estudantes/psicologia , Adulto , Competência Clínica , Comunicação , Estudos Transversais , Avaliação Educacional , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Aconselhamento Genético/psicologia , Humanos , Aprendizagem , Masculino , Simulação de Paciente , Pediatria/métodos , Pediatria/organização & administração , Percepção , Relações Médico-Paciente , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários , Tunísia , Adulto Jovem
17.
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
18.
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
19.
BMJ Open ; 9(9): e029926, 2019 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-31551380

RESUMO

OBJECTIVES AND SETTING: Advances in multigene panel testing for cancer susceptibility has increased the complexity of counselling, requiring particular attention to counselees' psychosocial needs. Changes in psychosocial problems before and after genetic testing were prospectively compared between genetic test results in women tested for breast or ovarian cancer genetic susceptibility in French, German and Spanish clinics. PARTICIPANTS AND MEASURES: Among 752 counselees consecutively approached, 646 (86%) were assessed after the initial genetic consultation (T1), including 510 (68%) affected with breast cancer, of which 460 (61%) were assessed again after receiving the test result (T2), using questionnaires addressing genetic-specific psychosocial problems (Psychosocial Aspects of Hereditary Cancer (PAHC)-six scales). Sociodemographic and clinical data were also collected. RESULTS: Seventy-nine (17.2%), 19 (4.1%), 259 (56.3%), 44 (9.6%) and 59 (12.8%) women received a BRCA1/2, another high/moderate-risk pathogenic variant (PV), negative uninformative, true negative (TN) or variant of uncertain significance result (VUS), respectively. On multiple regression analyses, compared with women receiving another result, those with a VUS decreased more in psychosocial problems related to hereditary predisposition (eg, coping with the test result) (ß=-0.11, p<0.05) and familial/social issues (eg, risk communication) (ß=-0.13, p<0.05), almost independently from their problems before testing. Women with a PV presented no change in hereditary predisposition problems and, so as women with a TN result, a non-significant increase in familial/social issues. Other PAHC scales (ie, emotions, familial cancer, personal cancer and children-related issues) were not affected by genetic testing. CONCLUSIONS: In women tested for breast or ovarian cancer genetic risk in European genetics clinics, psychosocial problems were mostly unaffected by genetic testing. Apart from women receiving a VUS result, those with another test result presented unchanged needs in counselling in particular about hereditary predisposition and familial/social issues.


Assuntos
Adaptação Psicológica , Aconselhamento Genético , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Síndrome Hereditária de Câncer de Mama e Ovário , Comportamento Social , Adulto , Proteína BRCA1/genética , Feminino , França/epidemiologia , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Alemanha/epidemiologia , Síndrome Hereditária de Câncer de Mama e Ovário/epidemiologia , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Humanos , Psicologia , Espanha/epidemiologia , Estresse Psicológico/diagnóstico , Estresse Psicológico/etiologia
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