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1.
Lancet Oncol ; 21(10): 1378-1386, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33002439

RESUMO

BACKGROUND: Genetic variants and lifestyle factors have been associated with gastric cancer risk, but the extent to which an increased genetic risk can be offset by a healthy lifestyle remains unknown. We aimed to establish a genetic risk model for gastric cancer and assess the benefits of adhering to a healthy lifestyle in individuals with a high genetic risk. METHODS: In this meta-analysis and prospective cohort study, we first did a fixed-effects meta-analysis of the association between genetic variants and gastric cancer in six independent genome-wide association studies (GWAS) with a case-control study design. These GWAS comprised 21 168 Han Chinese individuals, of whom 10 254 had gastric cancer and 10 914 geographically matched controls did not. Using summary statistics from the meta-analysis, we constructed five polygenic risk scores in a range of thresholds (p=5 × 10-4 p=5 × 10-5 p=5 × 10-6 p=5 × 10-7, and p=5 × 10-8) for gastric cancer. We then applied these scores to an independent, prospective, nationwide cohort of 100 220 individuals from the China Kadoorie Biobank (CKB), with more than 10 years of follow-up. The relative and absolute risk of incident gastric cancer associated with healthy lifestyle factors (defined as not smoking, never consuming alcohol, the low consumption of preserved foods, and the frequent intake of fresh fruits and vegetables), was assessed and stratified by genetic risk (low [quintile 1 of the polygenic risk score], intermediate [quintile 2-4 of the polygenic risk score], and high [quintile 5 of the polygenic risk score]). Individuals with a favourable lifestyle were considered as those who adopted all four healthy lifestyle factors, those with an intermediate lifestyle adopted two or three factors, and those with an unfavourable lifestyle adopted none or one factor. FINDINGS: The polygenic risk score derived from 112 single-nucleotide polymorphisms (p<5 × 10-5) showed the strongest association with gastric cancer risk (p=7·56 × 10-10). When this polygenic risk score was applied to the CKB cohort, we found that there was a significant increase in the relative risk of incident gastric cancer across the quintiles of the polygenic risk score (ptrend<0·0001). Compared with individuals who had a low genetic risk, those with an intermediate genetic risk (hazard ratio [HR] 1·54 [95% CI 1·22-1·94], p=2·67 × 10-4) and a high genetic risk (2·08 [1·61-2·69], p<0·0001) had a greater risk of gastric cancer. A similar increase in the relative risk of incident gastric cancer was observed across the lifestyle categories (ptrend<0·0001), with a higher risk of gastric cancer in those with an unfavourable lifestyle than those with a favourable lifestyle (2·03 [1·46-2·83], p<0·0001). Participants with a high genetic risk and a favourable lifestyle had a lower risk of gastric cancer than those with a high genetic risk and an unfavourable lifestyle (0·53 [0·29-0·99], p=0·048), with an absolute risk reduction of 1·12% (95% CI 0·62-1·56). INTERPRETATION: Chinese individuals at an increased risk of incident gastric cancer could be identified by use of our newly developed polygenic risk score. Compared with individuals at a high genetic risk who adopt an unhealthy lifestyle, those who adopt a healthy lifestyle could substantially reduce their risk of incident gastric cancer. FUNDING: National Key R&D Program of China, National Natural Science Foundation of China, 333 High-Level Talents Cultivation Project of Jiangsu Province, and China Postdoctoral Science Foundation.


Assuntos
Predisposição Genética para Doença/genética , Estilo de Vida Saudável , Neoplasias Gástricas/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático , China/epidemiologia , Feminino , Seguimentos , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/psicologia , Estudo de Associação Genômica Ampla/estatística & dados numéricos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Fatores de Risco , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/psicologia
2.
PLoS One ; 15(10): e0239714, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33052909

RESUMO

The general public is increasingly aware of the role of genes in causing depression. Recent studies have begun uncovering unintended negative consequences of learning about a person's genetic susceptibility to disorders. Because people tend to believe that genes determine one's identity, having genes related to a disorder can be misinterpreted as equivalent to having the disorder. Consequently, learning that a person is genetically predisposed to depression can make people misremember mild depression as more severe. Participants across three experiments read a target vignette about a character displaying mild depressive symptoms, while descriptions of the character's genetic susceptibility to depression were experimentally manipulated. Participants then read a foil vignette describing a character with more severe depressive symptoms. Afterwards, participants who had learned that the target character was genetically predisposed to depression were comparatively more likely to misremember the target symptoms as being severe, when in fact they were mild. This pattern of results was obtained among both laypeople (Experiments 1 and 2) and practicing master's-level, but not doctoral-level, mental health clinicians (Experiment 3). Given that depression is diagnosed primarily based on a person's memory of depressive symptoms, the current findings suggest that genetic information about depression may lead to over-diagnosis of depression.


Assuntos
Depressão/genética , Predisposição Genética para Doença/psicologia , Testes Genéticos/ética , Adulto , Depressão/metabolismo , Depressão/psicologia , Transtorno Depressivo/psicologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Aprendizagem , Masculino , Memória , Preconceito/psicologia
3.
Am J Psychiatry ; 177(10): 928-935, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32854532

RESUMO

OBJECTIVE: The authors aimed to clarify the sources of parent-child transmission for suicide attempt and death by suicide. METHODS: Three sources of parent-child resemblance (genes plus rearing, genes only, and rearing only) were examined in parents and offspring from four family types from Swedish national samples: intact nuclear families, families with a not-lived-with biological father, families with a stepfather, and adoptees and their biological and adoptive parents. Parent-child resemblance was assessed primarily by tetrachoric correlation. RESULTS: For suicide attempt to suicide attempt transmission, best-estimate tetrachoric correlations for genes plus rearing, genes only, and rearing only were 0.23 (95% CI=0.23, 0.24), 0.13 (95% CI=0.11, 0.15), and 0.14 (95% CI=0.11, 0.16), respectively. Suicide attempt was more strongly transmitted to male offspring compared with female offspring. Parental psychiatric disorders accounted for 40% of the genetic transmission but had no impact on rearing effects. For suicide death to suicide death transmission, best estimates of tetrachoric correlations for genes plus rearing, genes only, and rearing only were 0.16 (95% CI=0.15, 0.18), 0.07 (95% CI=0.02, 0.12), and -0.05 (95% CI=-0.17, 0.07), respectively. Although the suicide attempt-suicide death genetic correlation was high (0.84), the hypothesis that they reflect behaviors only differing in severity on the same continuum of genetic liability could be rejected. CONCLUSIONS: The transmission of suicide attempt across generations is moderately strong and arises equally from genetic and rearing effects. Parental psychiatric illness explains almost half of the genetic transmission of suicide attempt but none of the rearing effect. Suicide death is modestly transmitted across generations, probably via genetic effects, although rearing may play a role. While suicide attempt and suicide death share a substantial proportion of their hereditary risk, they do not, from a genetic perspective, simply reflect milder and more severe forms of the same diathesis.


Assuntos
Relações Pais-Filho , Tentativa de Suicídio/estatística & dados numéricos , Suicídio Consumado/estatística & dados numéricos , Adolescente , Adoção/psicologia , Adulto , Criança , Educação Infantil/psicologia , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Fatores de Risco , Fatores Sexuais , Suécia/epidemiologia , Adulto Jovem
4.
Per Med ; 17(2): 101-109, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32125936

RESUMO

Aim: Before population screening of 'healthy' individuals is widely adopted, it is important to consider the harms and benefits of receiving positive results and how harms and benefits may differ by age. Subjects & methods: Participants in a preventive genomic screening study were screened for 17 genes associated with 11 conditions. We interviewed 11 participants who received positive results. Results: Interviewees expressed little concern about their positive results in light of their older age, the risk condition for which they tested positive, or other pressing health concerns. Conclusion: Researchers and clinicians should recognize that returning positive results may not have the impact they presume given the diversity of the conditions screened and those who choose to undergo screening.


Assuntos
Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Genômica/métodos , Adulto , Idoso , Tomada de Decisões , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
5.
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
6.
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
7.
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
8.
Menopause ; 27(2): 156-161, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31644510

RESUMO

OBJECTIVE: BRCA mutation carriers are advised to undergo bilateral salpingo-oophorectomy to prevent ovarian cancer. The abrupt hormonal withdrawal associated with early surgical menopause has been shown to increase the risk of depression and anxiety among women in the general population. The impact in women with a BRCA1 or BRCA2 mutation is not known. METHODS: We undertook a matched prospective study of BRCA mutation carriers to evaluate the impact of oophorectomy on self-reported initiation of antidepressant use. We identified women with no personal history of cancer or depression and prospectively evaluated the frequency of self-reported medication use after surgery. Each exposed participant (oophorectomy) was randomly matched to a control participant (no oophorectomy) according to year of birth (within 3 years), BRCA mutation type (BRCA1 or BRCA2), and country of residence (Canada, United States, Poland). A total of 506 matched sets were included. We estimated the odds ratio (OR) and 95% confidence intervals (CIs) of antidepressant use (ever/never) following preventive oophorectomy in the entire study population and stratified by age at oophorectomy and by use of hormone therapy. RESULTS: Oophorectomy was not associated with more frequent antidepressant use among BRCA mutation carriers (OR = 0.46; 95% CI 0.22-0.96). We observed reductions in the odds of antidepressant medication use among women who underwent oophorectomy before the age of 50 years (OR = 0.33; 95% CI 0.14-0.78) and among those who initiated hormone therapy use after oophorectomy (OR = 0.35; 95% CI 0.14-0.90). Findings were similar when the analysis was based on self-reported depression (rather than antidepressant use). CONCLUSIONS: Although based on a small number of women, these findings suggest that oophorectomy does not increase psychological distress among women at an elevated risk of ovarian cancer.


Assuntos
Antidepressivos/uso terapêutico , Depressão/epidemiologia , Predisposição Genética para Doença/psicologia , Procedimentos Cirúrgicos Profiláticos/psicologia , Salpingo-Ooforectomia/psicologia , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Canadá/epidemiologia , Depressão/tratamento farmacológico , Depressão/etiologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Pessoa de Meia-Idade , Mutação , Razão de Chances , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Polônia/epidemiologia , Estudos Prospectivos , Estados Unidos/epidemiologia
9.
BJOG ; 127(3): 364-375, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31507061

RESUMO

OBJECTIVE: Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximise primary prevention for breast-and-ovarian cancer. We compare long-term outcomes of population-based and family-history (FH)/clinical-criteria-based BRCA testing on psychological health and quality of life. DESIGN: Randomised controlled trial (RCT) (ISRCTN73338115) GCaPPS, with two-arms: (i) population-screening (PS); (ii) FH/clinical-criteria-based testing. SETTING: North London Ashkenazi-Jewish (AJ) population. POPULATION/SAMPLE: AJ women/men. METHODS: Population-based RCT (1:1). Participants were recruited through self-referral, following pre-test genetic counselling from the North London AJ population. INCLUSION CRITERIA: AJ women/men >18 years old; exclusion-criteria: prior BRCA testing or first-degree relatives of BRCA-carriers. INTERVENTIONS: Genetic testing for three Jewish BRCA founder-mutations: 185delAG (c.68_69delAG), 5382insC (c.5266dupC) and 6174delT (c.5946delT), for (i) all participants in PS arm; (ii) those fulfilling FH/clinical criteria in FH arm. Linear mixed models and appropriate contrast tests were used to analyse the impact of BRCA testing on psychological and quality-of-life outcomes over 3 years. MAIN OUTCOME MEASURES: Validated questionnaires (HADS/MICRA/HAI/SF12) used to analyse psychological wellbeing/quality-of-life outcomes at baseline/1-year/2-year/3-year follow up. RESULTS: In all, 1034 individuals (691 women, 343 men) were randomised to PS (n = 530) or FH (n = 504) arms. There was a statistically significant decrease in anxiety (P = 0.046) and total anxiety-&-depression scores (P = 0.0.012) in the PS arm compared with the FH arm over 3 years. No significant difference was observed between the FH and PS arms for depression, health-anxiety, distress, uncertainty, quality-of-life or experience scores associated with BRCA testing. Contrast tests showed a decrease in anxiety (P = 0.018), health-anxiety (P < 0.0005) and quality-of-life (P = 0.004) scores in both PS and FH groups over time. Eighteen of 30 (60%) BRCA carriers identified did not fulfil clinical criteria for BRCA testing. Total BRCA prevalence was 2.9% (95% CI 1.97-4.12%), BRCA1 prevalence was 1.55% (95% CI 0.89-2.5%) and BRCA2 prevalence was 1.35% (95% CI 0.74-2.26%). CONCLUSION: Population-based AJ BRCA testing does not adversely affect long-term psychological wellbeing or quality-of-life, decreases anxiety and could identify up to 150% additional BRCA carriers. TWEETABLE ABSTRACT: Population BRCA testing in Ashkenazi Jews reduces anxiety and does not adversely affect psychological health or quality of life.


Assuntos
Ansiedade , Detecção Precoce de Câncer , Genes BRCA1 , Genes BRCA2 , Síndrome Hereditária de Câncer de Mama e Ovário , Qualidade de Vida , Adulto , Ansiedade/fisiopatologia , Ansiedade/prevenção & controle , Detecção Precoce de Câncer/métodos , Detecção Precoce de Câncer/psicologia , Feminino , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , 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/estatística & dados numéricos , Londres/epidemiologia , Masculino , Anamnese/estatística & dados numéricos , Incerteza
10.
Psychooncology ; 29(10): 1638-1645, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33463858

RESUMO

OBJECTIVE: Leventhal's common sense model of self-regulation highlights how specific beliefs about illness influence psychological outcomes. Little is known on how such beliefs relate to BRCA1/2 adjustment. Furthermore, beliefs about one's self-concept may be relevant to genetic conditions and may relate to psychological wellbeing. METHODS: One-hundred and eighteen female BRCA1/2 carriers from an Irish University Hospital completed questionnaires for this cross-sectional study. Outcomes measured were state anxiety and physical and mental health-related quality of life (HRQOL). Explanatory variables included sociodemographics, health anxiety, illness perceptions, coping and self-concept. Hierarchical multiple regression analyses were conducted. RESULTS: Then, 44% of participants had clinically significant state anxiety and 12% had clinically significant health anxiety. Vulnerability, stigma, mastery and health anxiety explained 42% of the variance in state anxiety. Previous mental health difficulty, vulnerability, stigma, mastery and health anxiety explained 40% of the variance in mental HRQOL. Dysfunctional coping strategies were strongly related to the physical functioning aspect of quality of life. CONCLUSION: BRCA-specific beliefs related to self and health anxiety are important factors to consider in the adjustment to BRCA1/2 confirmation.


Assuntos
Ansiedade/etiologia , Proteína BRCA1 , Neoplasias da Mama/psicologia , Predisposição Genética para Doença/psicologia , Qualidade de Vida/psicologia , Autoimagem , Adaptação Psicológica , Adulto , Idoso , Ansiedade/psicologia , Neoplasias da Mama/genética , Estudos Transversais , Feminino , Testes Genéticos , Humanos , Saúde Mental , Pessoa de Meia-Idade , Inquéritos e Questionários
11.
Soc Sci Med ; 242: 112592, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31629161

RESUMO

RATIONALE: Men with BRCA-related cancer risks face increased disease risk as well as the prospect of passing on their risk to children. OBJECTIVE: This study investigates men's communicative appraisal and management of uncertainty related to BRCA-related cancer risks and decision-making. METHODS: Guided by uncertainty management theory (UMT), a directed content analysis approach was utilized to analyze interviews with 25 men who either carry a pathogenic BRCA variant or have a 50% chance of carrying a variant but have not yet been tested. RESULTS: Participants appraised their individual uncertainty as irrelevant or dangerous but appraised their familial uncertainty as dangerous. Men appraising their uncertainty as a danger exhibited more proactive information seeking healthcare behaviors-such as genetic testing and following recommended screenings-than men who appraised their uncertainty as irrelevant. Participants appraised familial uncertainty as a danger and were engaged in information management with family members, as well as encouraging family members to engage in proactive healthcare decision-making. CONCLUSIONS: Men with BRCA-related cancer risks lack understanding about their risks and how to manage them. Increased attention should be paid to the development of interventions tailored specifically to men. Further, interventions focusing on strategically developing proactive family communication behaviors would also be beneficial to men and their families.


Assuntos
Família/psicologia , Predisposição Genética para Doença/psicologia , Neoplasias/diagnóstico , Incerteza , Adulto , Idoso , Proteína BRCA2/análise , Proteína BRCA2/sangue , Tomada de Decisões , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/genética , Neoplasias/psicologia , Medição de Risco/métodos , Medição de Risco/normas , Medição de Risco/estatística & dados numéricos , Ubiquitina-Proteína Ligases/análise , Ubiquitina-Proteína Ligases/sangue
12.
AMA J Ethics ; 21(10): E865-872, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31651386

RESUMO

People with genetic predispositions to disease are faced with uncertainty about whether, when, and to what extent an illness will actually develop. This prognostic uncertainty, combined with knowledge that preventative interventions (eg, risk-reducing surgeries for familial cancer syndromes) could significantly affect people's lives, renders prevention decisions especially challenging. This article illuminates ethical questions about the use of decision aids for people with genetic predispositions and calls for approaching individual decisions in light of ongoing communication and reflection about a person's life goals and values.


Assuntos
Técnicas de Apoio para a Decisão , Aconselhamento Genético/métodos , Predisposição Genética para Doença , Tomada de Decisões , Aconselhamento Genético/ética , Predisposição Genética para Doença/psicologia , Humanos , Medição de Risco
13.
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
14.
BMC Womens Health ; 19(1): 116, 2019 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-31519195

RESUMO

BACKGROUND: Breast cancer is the most prevalent cancer in women, and in those with a positive family history, it is important to perform mammography. One of the probable barriers in doing mammography is fatalism. METHODS: This is a descriptive/cross-sectional study conducted on 400 women residing in Isfahan, Iran, randomly selected in 2017. Sampling was done randomly among the enrolled women in Health Integrity System. The data collection tool was a questionnaire regarding the demographic-fertility information and fatalism. The data analysis was done by SPSS software. A P-value < 0.05 was considered statistically significant. RESULTS: The results showed that the mean rate of fatalism was 59.5 ± 23.2 in women with the experience of mammography, and 65.9±18.7 in women without the experience. Moreover, the mean rate of fatalism was 73.1±15.2 in subjects with a family history of breast cancer, and 59.3 ± 22.5 in those no family history related to this condition. Accordingly, fatalism was statistically significant associated (P < 0.001) with a family history of breast cancer and experience of mammography. There was no significant relationship between demographic information and fatalism (P > 0.05). CONCLUSION: The results indicated that fatalism in women with no experience of mammography was higher than in those with a positive history. Regarding the necessity of mammography in women with a family history of breast cancer, the required interventions seem to be essential to changing the viewpoints of women regarding the importance and effect of mammography as a screening method for breast cancer.


Assuntos
Neoplasias da Mama/psicologia , Detecção Precoce de Câncer/psicologia , Predisposição Genética para Doença/psicologia , Mamografia/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Adulto , Neoplasias da Mama/diagnóstico , Estudos Transversais , Detecção Precoce de Câncer/estatística & dados numéricos , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Irã (Geográfico) , Mamografia/estatística & dados numéricos , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Inquéritos e Questionários
16.
Psychooncology ; 28(11): 2226-2232, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31461546

RESUMO

OBJECTIVE: Elevated anxiety and breast cancer worry can impede mammographic screening and early breast cancer detection. Genetic advances and risk models make personalized breast cancer risk assessment and communication feasible, but it is unknown whether such communication of risk affects anxiety and disease-specific worry. We studied the effect of a personalized breast cancer screening intervention on risk perception, anxiety, and breast cancer worry. METHODS: Women with a normal mammogram but elevated risk for breast cancer (N = 122) enrolled in the Athena Breast Health risk communication program were surveyed before and after receiving a letter conveying their breast cancer risk and a breast health genetic counselor consultation. We compared breast cancer risk estimation, anxiety, and breast cancer worry before and after risk communication and evaluated the relationship of anxiety and breast cancer worry to risk estimation accuracy. RESULTS: Women substantially overestimated their lifetime breast cancer risk, and risk communication somewhat mitigated this overestimation (49% pre-intervention, 42% post-intervention, 13% Gail model risk estimate, P < .001). Both general anxiety and breast cancer worry declined significantly after risk communication in women with high baseline anxiety. Baseline anxiety and breast cancer worry were essentially unrelated to risk estimation accuracy, but risk communication increased alignment of worry with accuracy of risk assessment. CONCLUSIONS: Personalized communication about breast cancer risk was associated with modestly improved risk estimation accuracy in women with relatively low anxiety and less anxiety and breast cancer worry in women with higher anxiety. We detected no negative consequences of informing women about elevated breast cancer risk.


Assuntos
Ansiedade , Neoplasias da Mama/psicologia , Predisposição Genética para Doença/psicologia , Mamografia/psicologia , Adulto , Neoplasias da Mama/genética , Comunicação , Detecção Precoce de Câncer , Feminino , Aconselhamento Genético , Comportamentos Relacionados com a Saúde , Humanos , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Inquéritos e Questionários
17.
Public Health Genomics ; 22(1-2): 36-45, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31461719

RESUMO

BACKGROUND: Personal genetic information (PGI) about HIV is produced in research and entering the clinic and direct-to-consumer market, but little consideration has been given to ethical and social issues, public perspectives, and potential behavioral implications. OBJECTIVES: This research queried the views of research participants at risk for or infected with HIV, exploring their perspectives on HIV-related PGI and its ethical, social, and behavioral implications. METHODS: We used focus groups to collect rich information about participants' perspectives on the ethical, social, and behavioral implications of PGI about HIV and host genetic research. We evaluated their reactions to three different types of genetic variants: those that made them more susceptible to HIV, more protected from or resistant to HIV, or more likely to transmit HIV to others. RESULTS: Overall, participants wanted PGI about HIV. Their reasons included a mix of personal or family health benefit and benefit to others, which varied in emphasis depending on variant type. While susceptibility variant information was seen primarily in terms of personal or family health benefit, for transmissibility and protective variant information, benefit to others emerged as a major reason for wanting PGI about HIV. Participants thought transmissibility variant information would help them prevent others from becoming infected, and protective variant information would allow them to volunteer for targeted research to help treat, cure, or prevent HIV. Possible harms were raised regarding the tendencies among some individuals to increase risky behavior with modulations in perceived risk. Potential behavioral implications were seen as significant, though complex, reflecting multifaceted risk perceptions. CONCLUSIONS: Our study adds to the evidence that participants in genetic research, across disease type, have a strong desire for PGI. For participants in research on the genetics of HIV, and potentially other infectious diseases, their desire for PGI is grounded in a perceived duty not to infect others, where they feel a moral responsibility regarding research participation and behavior change. Wider dissemination of HIV-related PGI may well increase research participation, but could have mixed effects on risk behavior. More research is needed on the implications of different variant types of PGI beyond susceptibility factors, especially protective variants or resistance factors.


Assuntos
Privacidade Genética/psicologia , Infecções por HIV/psicologia , Altruísmo , Feminino , Predisposição Genética para Doença/psicologia , Privacidade Genética/ética , Infecções por HIV/genética , Infecções por HIV/transmissão , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Princípios Morais , Mutação/genética , Receptores CCR5/genética , Pesquisadores/psicologia , Fatores de Risco
18.
J Med Ethics ; 45(12): 811-816, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31462451

RESUMO

Familial disclosure of genetic information is an important, long-standing ethical issue that still gives rise to much debate. In France, recent legislation has created an innovative and unprecedented procedure that allows healthcare professionals (HCPs), under certain conditions, to disclose relevant information to relatives of a person carrying a deleterious genetic mutation. This article will analyse how HCPs in two medical genetics clinics have reacted to these new legal provisions and show how their reticence to inform the patients' relatives on their behalf leads them to use this option sparingly.


Assuntos
Revelação/ética , Predisposição Genética para Doença , Testes Genéticos/ética , Confidencialidade/ética , Revelação/legislação & jurisprudência , Família , França , Predisposição Genética para Doença/psicologia , Testes Genéticos/legislação & jurisprudência , Humanos
19.
Psychiatry Res ; 280: 112519, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31442670

RESUMO

The first of its kind, this study determined whether blast exposure interacts with genetic variant 5HTTLPR to predict posttraumatic stress (PTS) symptoms in 78 military explosives operators. In all models, blast-exposed 5HTTLPR S carriers registered definitively higher PTS symptoms in comparison to non-exposed S carriers, as well as exposed and non-exposed LL carriers (all p < 0.01). All findings were robust to confounding influences of age and traumatic brain injury diagnosis. Not only is blast exposure prevalent in EOD personnel, but it also interacts with genetic predisposition to predict trauma symptoms in this unique, at-risk military population.


Assuntos
Traumatismos por Explosões/genética , Traumatismos por Explosões/psicologia , Militares/psicologia , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Transtornos de Estresse Pós-Traumáticos/genética , Transtornos de Estresse Pós-Traumáticos/psicologia , Adulto , Traumatismos por Explosões/epidemiologia , Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/genética , Lesões Encefálicas Traumáticas/psicologia , Substâncias Explosivas/efeitos adversos , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Variação Genética/genética , Humanos , Masculino , Valor Preditivo dos Testes , Transtornos de Estresse Pós-Traumáticos/epidemiologia
20.
Infant Behav Dev ; 57: 101337, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31450025

RESUMO

Behavioral signs of Autism Spectrum Disorder (ASD) are typically observable by the second year of life and a reliable diagnosis of ASD is possible by 2 to 3 years of age. Studying infants with familial risk for ASD allows for the investigation of early signs of ASD risk within the first year. Brain abnormalities such as hyper-connectivity within the first year may precede the overt signs of ASD that emerge later in life. In this preliminary study, we use functional near-infrared spectroscopy (fNIRS), an infant-friendly neuroimaging tool that is relatively robust against motion artifacts, to examine functional activation and connectivity during naturalistic social interactions in 9 high-risk (HR; older sibling with ASD) and 6 low-risk (LR; no family history of ASD) infants from 6 to 9 months of age. We obtained two 30-second baseline periods and a 5-minute social interaction period. HR infants showed reduced right and left-hemispheric activation compared to LR infants based on oxy (HbO2) and deoxy (HHb) signal trends. HR infants also had greater functional connectivity than LR infants during the pre- and post-social periods and showed a drop in connectivity during the social period. Our findings are consistent with previous work suggesting early differences in cortical activation associated with familial risk for ASD, and highlight the promise of fNIRS in evaluating potential markers of ASD risk during naturalistic social contexts.


Assuntos
Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/genética , Córtex Cerebral/diagnóstico por imagem , Predisposição Genética para Doença/genética , Relações Interpessoais , Rede Nervosa/diagnóstico por imagem , Transtorno do Espectro Autista/psicologia , Feminino , Predisposição Genética para Doença/psicologia , Humanos , Lactente , Masculino , Relações Pais-Filho , Estudo de Prova de Conceito , Fatores de Risco , Irmãos/psicologia , Espectroscopia de Luz Próxima ao Infravermelho/métodos
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