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1.
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
2.
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
3.
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
4.
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
5.
Soc Psychiatry Psychiatr Epidemiol ; 54(9): 1045-1054, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31209522

RESUMO

PURPOSE: Whilst childhood trauma (CT) is a known risk factor across the spectrum of psychosis expression, little is known about possible interplay with genetic liability. METHODS: The TwinssCan Study collected data in general population twins, focussing on expression of psychosis at the level of subthreshold psychotic experiences. A multilevel mixed-effects linear regression analysis was performed including 745 subjects to assess the interaction between genetic liability and CT. The Symptom Checklist-90 (SCL-90-R) score of the co-twin was used as an indirect measure of genetic liability to psychopathology, while the Childhood Trauma Questionnaire Short-Form (CTQ-SF) was used to assess CT in the domains of physical, emotional and sexual abuse, as well as physical and emotional neglect. The Community Assessment of Psychic Experience (CAPE) questionnaire was used to phenotypically characterize psychosis expression. RESULTS: In the model using the CAPE total score, the interaction between CT and genetic liability was close to statistical significance (χ2 = 5.6, df = 2, p = 0.06). Analyses of CAPE subscales revealed a significant interaction between CT and genetic liability (χ2 = 8.8, df = 2, p = 0.012) for the CAPE-negative symptoms subscale, but not for the other two subscales (i.e. positive and depressive). CONCLUSION: The results suggest that the impact of CT on subthreshold expression of psychosis, particularly in the negative subdomain, may be larger in the co-presence of significant genetic liability for psychopathology.


Assuntos
Maus-Tratos Infantis/psicologia , Predisposição Genética para Doença/psicologia , Transtornos Psicóticos/genética , Transtornos Psicóticos/psicologia , Adulto , Criança , Emoções , Feminino , Humanos , Masculino , Fatores de Risco , Inquéritos e Questionários , Avaliação de Sintomas
6.
Int J Palliat Nurs ; 25(5): 212-214, 2019 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-31116654

RESUMO

People with an inherited condition who receive palliative care may be missing out on the opportunity to store a DNA sample for future use by their families and offspring. A DNA sample from a family member affected with an inherited condition can help at-risk relatives to access accurate risk assessment and, where relevant, enhanced surveillance and risk-reducing measures. As genetic and genomic testing becomes increasingly important in all aspects of healthcare, health professionals specialising in palliative care will be asked to communicate about family history risk and testing. This article highlights the importance of discussing genetics and genomics issues for people receiving palliative care, their families and the health professionals caring for them.


Assuntos
Família/psicologia , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Pessoal de Saúde/psicologia , Enfermagem de Cuidados Paliativos na Terminalidade da Vida/métodos , Cuidados Paliativos/métodos , Medição de Risco/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
7.
Nat Hum Behav ; 3(1): 48-56, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30932047

RESUMO

Millions of people now access personal genetic risk estimates for diseases such as Alzheimer's, cancer and obesity1. While this information can be informative2-4, research on placebo and nocebo effects5-8 suggests that learning of one's genetic risk may evoke physiological changes consistent with the expected risk profile. Here we tested whether merely learning of one's genetic risk for disease alters one's actual risk by making people more likely to exhibit the expected changes in gene-related physiology, behaviour and subjective experience. Individuals were genotyped for actual genetic risk and then randomly assigned to receive either a 'high-risk' or 'protected' genetic test result for obesity via cardiorespiratory exercise capacity (experiment 1, N = 116) or physiological satiety (experiment 2, N = 107) before engaging in a task in which genetic risk was salient. Merely receiving genetic risk information changed individuals' cardiorespiratory physiology, perceived exertion and running endurance during exercise, and changed satiety physiology and perceived fullness after food consumption in a self-fulfilling manner. Effects of perceived genetic risk on outcomes were sometimes greater than the effects associated with actual genetic risk. If simply conveying genetic risk information can alter actual risk, clinicians and ethicists should wrestle with appropriate thresholds for when revealing genetic risk is warranted.


Assuntos
Aptidão Cardiorrespiratória/fisiologia , Tolerância ao Exercício/fisiologia , Predisposição Genética para Doença/psicologia , Testes Genéticos , Obesidade , Esforço Físico/fisiologia , Adulto , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Aptidão Cardiorrespiratória/psicologia , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Teste de Esforço , Tolerância ao Exercício/genética , Feminino , Humanos , Masculino , Obesidade/genética , Obesidade/fisiopatologia , Obesidade/psicologia , Esforço Físico/genética , Risco , Adulto Jovem
8.
Psychiatry Res ; 271: 658-668, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30791339

RESUMO

Psychiatric disorders are complex polygenic diseases that show common genetic vulnerability. Several studies have investigated the association of polymorphisms of FK506 binding protein 51 (FKBP5) gene and depressive disorders or suicidal behavior, however, the results have been controversial and ambiguous. The aim of our study was to explore the role of the FKBP5 gene variants (rs1360780, rs3800373 and rs4713916), in depressive disorders or suicidal behavior through a systematic review and a meta-analysis. The protocol number of the study is PROSPERO CRD42018089295. The meta-analysis included 12 studies. Odds ratios with 95% confidence intervals were used to evaluate the association and the publication bias was tested by Egger's test and funnel plot; heterogeneity was assessed by the Cochran's chi-square-based Q statistic test and the inconsistency index. Our results showed that the rs3800373 and rs4713916 were associated with an increased risk of depressive disorders when using the heterozygous and dominant models. In the stratified analysis by ethnicity, a significantly increased risk of depressive disorders was also observed for rs3800373 and rs4713916 in Caucasians. When we analyzed suicidal behavior, we found a significant association with the rs1360780 of FKBP5 and suicidal behavior risk in the overall population and rs3800373 in completed suicide subgroup. Existing evidence indicates that the polymorphisms of FKBP5 gene are associated with risk of depressive disorders and suicidal behavior. Future studies with larger sample sizes will be necessary to confirm the present results.


Assuntos
Transtorno Depressivo/genética , Estudos de Associação Genética/métodos , Polimorfismo de Nucleotídeo Único/genética , Ideação Suicida , Suicídio , Proteínas de Ligação a Tacrolimo/genética , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/psicologia , Feminino , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Suicídio/psicologia
9.
Genome Med ; 11(1): 10, 2019 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-30808425

RESUMO

BACKGROUND: Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes of the PeopleSeq Consortium, a multi-cohort collaboration of predispositional genome sequencing projects, which is examining the medical, behavioral, and economic outcomes of returning genomic sequencing information to healthy individuals. METHODS: Apparently healthy adults who participated in four of the sequencing projects in the Consortium were included. Web-based surveys were administered before and after genomic results disclosure, or in some cases only after results disclosure. Surveys inquired about sociodemographic characteristics, motivations and concerns, behavioral and medical responses to sequencing results, and perceived utility. RESULTS: Among 1395 eligible individuals, 658 enrolled in the Consortium when contacted and 543 have completed a survey after receiving their genomic results thus far (mean age 53.0 years, 61.4% male, 91.7% white, 95.5% college graduates). Most participants (98.1%) were motivated to undergo sequencing because of curiosity about their genetic make-up. The most commonly reported concerns prior to pursuing sequencing included how well the results would predict future risk (59.2%) and the complexity of genetic variant interpretation (56.8%), while 47.8% of participants were concerned about the privacy of their genetic information. Half of participants reported discussing their genomic results with a healthcare provider during a median of 8.0 months after receiving the results; 13.5% reported making an additional appointment with a healthcare provider specifically because of their results. Few participants (< 10%) reported making changes to their diet, exercise habits, or insurance coverage because of their results. Many participants (39.5%) reported learning something new to improve their health that they did not know before. Reporting regret or harm from the decision to undergo sequencing was rare (< 3.0%). CONCLUSIONS: Healthy individuals who underwent predispositional sequencing expressed some concern around privacy prior to pursuing sequencing, but were enthusiastic about their experience and not distressed by their results. While reporting value in their health-related results, few participants reported making medical or lifestyle changes.


Assuntos
Predisposição Genética para Doença/psicologia , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Medicina de Precisão/psicologia , Sequenciamento Completo do Genoma , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Motivação , Inquéritos e Questionários
10.
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
11.
Clin Exp Rheumatol ; 37 Suppl 116(1): 105-113, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30747098

RESUMO

The concept of resilience varies according to the context in which it is used. Resilience is broadly defined as a protective factor that makes people less vulnerable to future adverse life events, in this implying the previous occurrence of an adverse event that has to be confronted before individual equilibrium can be restored. This definition can be applied to fibromyalgia and other chronic pain situations. Resilience is profoundly related to reaction to acute or chronic stress, and is therefore involved in the stress response system. Corticotropin-releasing factor can be considered a fundamental biological element of resilience, which also involves neural mechanisms such as the hypothalamic-pituitary-adrenal (HPA) axis, the locus coeruleus/norepinephrine system, the mesolimbic reward circuit and the fear circuit. Resilience also has a genetic basis: certain genetic characteristics, affect the degree of vulnerability to chronic stress. The number of psychiatric symptoms in healthy adults with high resilience scores do not change when they are exposed to stressing life events, whereas less resilient people develop additional symptoms. This is a typical clinical feature of fibromyalgia. Although resilience could be a therapeutic target for any chronic pain condition, it is an under-developed area of research, particularly in the light of the emerging interactions of positive emotions, physical health, and changes in pro-inflammatory cytokine levels. Given the lack of any pharmacological treatment capable of controlling more than 30-50% of the cases of chronic pain, there is a need to discover new therapeutic targets and strategies capable of changing a non-resilient phenotype into a more resilient phenotype, especially in the case of chronic pain conditions that cannot be explained by a lesion or a disease affecting the somatosensory system. This holds true of fibromyalgia, which is characterised by a complex combination of positive signs and symptoms that vary enormously from person to person depending on a wide range of pathophysiological changes in which genotype and, more importantly, environmental factors may play a major role in developing a more or less resilient personality.


Assuntos
Dor Crônica , Resiliência Psicológica , Adulto , Doença Crônica , Emoções , Fibromialgia/genética , Fibromialgia/fisiopatologia , Fibromialgia/psicologia , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Humanos
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.
Eur J Med Genet ; 62(5): 342-349, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30476626

RESUMO

Massively parallel sequencing is being implemented in clinical practice through the use of multigene panel testing, whole exome sequencing and whole genome sequencing. In this manuscript we explore how the use of massively parallel sequencing, and in particular multigene cancer panel testing, is potentially changing the process of genetic counselling and how patients cope with pre-test genetic counselling and results. We found that the main challenges are around uncertainty, hopes and expectations and the amount and complexity of information that needs to be discussed. This may impact the process of genetic counselling, although genetic counsellors can still use their core skills and enhance some of them in order to evolve and meet patients' needs in the genomics era. Available data suggests that patients can cope with multigene cancer panels although more research is needed to fully understand the psychosocial implications of multigene cancer panels for patients, especially for those who have variants of unknown significance or moderate penetrance variants. Research is also needed to explore and develop communication models that maximize patients' understanding and empower them to make informed decisions.


Assuntos
Atitude , Biomarcadores Tumorais/genética , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Neoplasias/genética , Avaliação de Resultados da Assistência ao Paciente , Adaptação Psicológica , Aconselhamento Genético/métodos , Aconselhamento Genético/normas , Humanos , Penetrância
14.
Breast J ; 25(1): 117-123, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30488655

RESUMO

We used the Health Belief Model (HBM) to explore factors associated with readiness for genetic counseling among breast cancer survivors. Breast cancer survivors meeting NCCN genetic counseling referral criteria completed questionnaires capturing demographic and clinical information and factors guided by the HBM, including health beliefs, psychosocial variables, and cues to action. Using logistic regression, we examined whether the above variables differed based on readiness group (pre-contemplators, who did not plan to make a genetic counseling appointment, and contemplators, who planned to make a genetic counseling appointment in the next 1-6 months). Of 111 participants, 57% were pre-contemplators and 43% were contemplators. Higher cancer worry was associated with increased odds of being a contemplator (OR = 2.99; 95% CI = 1.37-6.54) and higher perceived barriers to genetic counseling were associated with decreased odds of being a contemplator (OR = 0.31; 95% CI = 0.11-0.85). Those who reported a family member encouraged them to get tested were more likely to be contemplators (OR = 3.57; 95% CI = 1.19-10.70). Our results suggest key factors for predicting genetic counseling readiness include cancer worry, perceived barriers, and family influence. There is need for increased genetic counseling awareness. Better understanding of factors related to survivors' decisions about counseling can inform tailored interventions to improve uptake and ultimately reduce cancer recurrence risk.


Assuntos
Atitude Frente a Saúde , Neoplasias da Mama/psicologia , Sobreviventes de Câncer/psicologia , Aconselhamento Genético/psicologia , Idoso , Feminino , Predisposição Genética para Doença/psicologia , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Modelos Teóricos , Fatores de Risco , Estados Unidos
15.
Eur J Hum Genet ; 27(2): 291-299, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30287899

RESUMO

Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed. Two questionnaires were developed (one for young adults who had considered presymptomatic testing, one for parents). Questionnaires were completed by 152 (65.2%) young adults and 42 (73.7%) parents. Data were analysed using descriptive statistics, inferential testing, and exploratory factor analysis and linear regression analysis. Young adults were told about their potential genetic risk at a mean age of 20 years; in most cases, information was given by a parent, often in an unplanned conversation. Although testing requests were usually made by young adults, the majority of parents felt they had control over the young adult's decision and all felt their children should be tested. Results suggest that some young adults did not understand the implications of the genetic test but complied with parental pressure. Counselling approaches for presymptomatic testing may require modification both for young adults and their parents. Those offering testing need to be aware of the complex pressures that young adults can experience, which can influence their autonomous choices. It is therefore important to emphasise to both parents and young adults that, although testing can bring benefits in terms of surveillance and prevention, young adults have a choice.


Assuntos
Atitude , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Testes Genéticos/ética , Neoplasias/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Neoplasias/psicologia , Pais/psicologia
16.
Eur J Hum Genet ; 27(1): 28-35, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30206354

RESUMO

Psychosocial and behavioral outcomes of genetic testing in oncology are well known, however, it is unclear how these findings will generalize to more complex genomic testing. The aim of this systematic review was to assess the psychosocial and behavioral outcomes of cancer genomic testing. Studies were selected for inclusion if they were published from January 2003 to January 2017 and addressed psychological and behavioral outcomes of cancer genomic testing in adults. A review of four databases identified 9620 abstracts, with 22 publications meeting the inclusion criteria. Of the included articles, 11 studies reported on outcomes of germline testing, with three articles assessing panel testing and eight SNP testing. No studies assessed the outcomes of WGS or WES. Eleven articles assessed the outcomes of somatic testing, including testing for cancer prognosis and for personalized therapies. Studies were biased toward breast cancer and Caucasian women with high education and socioeconomic status. While studies demonstrated limited adverse psychological outcomes associated with genomic testing, a lack of consistency in psychosocial measures precluded any meta-analysis. Changes in health behavior following positive results were limited, and in some cases risk perception was not altered following genomic testing. There is limited evidence of adverse psychosocial outcomes and changes in health behavior following genomic testing to assess cancer risk. Findings from this review highlight the need for longitudinal research with superior methodological and theoretical design.


Assuntos
Aconselhamento Genético/psicologia , Testes Genéticos/métodos , Conhecimentos, Atitudes e Prática em Saúde , Neoplasias/psicologia , Predisposição Genética para Doença/psicologia , Mutação em Linhagem Germinativa , Humanos , Neoplasias/diagnóstico , Neoplasias/genética
17.
J Fam Psychol ; 33(4): 487-492, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30211570

RESUMO

The present study investigated the effects of children without disabilities on maternal physical and mental health in families with adolescents or adults with fragile X syndrome. Mothers with the FMR1 premutation (N = 87) reported on behavior problems and functional limitations of their adolescent or adult child with fragile X syndrome and their own physical and mental health. Mothers also provided a blood sample to determine FMR1 CGG repeat length. The proportion of unaffected children in the family significantly buffered the effect of both child behavior problems and functional limitations on maternal self-rated health, such that having a higher proportion of unaffected children in the family had a protective effect on maternal health when the target child had more severe behavior problems and functional limitations. There was a similar buffering process for maternal depressive symptoms but at a trend level. Additionally, maternal CGG repeat length had a significant curvilinear association with self-rated health, indicating that mothers with midrange repeat lengths reported the poorest health, whereas mothers with lower and higher repeat lengths in the premutation range reported better health. The data suggest that unaffected children in the family may be an important resource for premutation carrier mothers. Findings are consistent with previous research indicating that mothers with varying levels of genetic liability have variable risk for health problems. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Síndrome do Cromossomo X Frágil/psicologia , Predisposição Genética para Doença/psicologia , Culpa , Mães/psicologia , Irmãos/psicologia , Adolescente , Depressão/complicações , Feminino , Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/complicações , Síndrome do Cromossomo X Frágil/genética , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade
18.
J Pediatr Hematol Oncol ; 41(2): 133-136, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30028825

RESUMO

Identification of patients with cancer predisposition syndromes (CPSs) can provide vital information to guide care of an existing cancer, survey for future malignancy, and counsel families. The same underlying mutation responsible for a CPS may also result in other phenotypic abnormalities amenable to therapeutic intervention. The purpose of this study was to examine patients followed in our multidisciplinary CPS clinic to determine the prevalence and scope of medical and psychosocial needs. Data from a baseline evaluation of a single-center patient registry was reviewed. Eligible patients included those with a known or suspected CPS. Over 3 years, 73 patients consented and had successful follow-up. Utilization rate of special therapies, defined as speech therapy, occupational therapy, and/or physical therapy, in the CPS population was 50.7%, significantly higher than a representative sample of children with special needs. Prevalence of 504/IEP (Individualized Education Program) utilization was 20.5%. Patients with CPSs have a high prevalence of medical and psychosocial needs beyond their risk for cancer, for which early screening for necessary interventions should be offered to maximize the patient's developmental potential. Future research is needed to further define the developmental and cognitive phenotypes of these syndromes, and to evaluate the effectiveness of subsequent interventions.


Assuntos
Institutos de Câncer , Predisposição Genética para Doença/psicologia , Sistema de Registros , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias/epidemiologia , Neoplasias/genética , Neoplasias/psicologia , Neoplasias/terapia , Prevalência , Psicologia
19.
Mol Genet Genomic Med ; 6(6): 1140-1147, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30393972

RESUMO

BACKGROUND: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. METHODS: As part of the protocol, risk perception (RP) values were collected at 16 time points before and after testing. The current study investigated changes in RP scores before and after genetic testing. Of the 186 participants with pre- and post-testing RP values, 39 also had contemporaneous research clinic notes and recent semi-structured interviews available for analysis. RESULTS: The data reveal tremendous diversity in RP. While the RP scores of most individuals change in the way one would expect, 27% of participants demonstrated unexpected changes in RP after disclosure. A significantly higher proportion of individuals who received an expanded repeat result had unexpected changes in RP, compared with those who received normal repeat results. CONCLUSIONS: The data suggest that individuals' RP is influenced by more than merely the results of genetic testing. This finding is important for genetic counselors and healthcare providers, as it suggests that even comprehensive patient education and disclosure of genetic test results may not ensure that people fully appreciate their disease risk.


Assuntos
Atitude , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/psicologia , Doença de Huntington/genética , Doenças Assintomáticas/psicologia , Feminino , Testes Genéticos , Humanos , Doença de Huntington/patologia , Doença de Huntington/psicologia , Masculino , Pacientes/psicologia
20.
J Neuroimmune Pharmacol ; 13(4): 430-437, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30370503

RESUMO

The clinical translation of genetic research on nicotine dependence and treatment response requires acceptance of genetic testing by smokers. This study determines (1) which current smokers are receptive to genetic susceptibility testing for nicotine dependence and (2) to what potential extent smokers motivated to quit desire to take smoking cessation medication when hypothetical genetic results predict their pharmacogenetic medication response. Current smokers from a genetic nicotine dependence study (n = 1306) and an ongoing smoking cessation trial (n = 209) were surveyed on their hypothetical interest in seeing genetic testing results related to risk of nicotine dependence. Most current smokers (84.8%) reported high interest in receiving genetic testing results. Factors associated with high interest included age ≥ 40 years, having a college degree, and a positive medical history (≥1 medical condition). In the ongoing smoking cessation trial, current smokers motivated to quit (n = 474) were surveyed on their desire to take smoking cessation medication given hypothetical below or above average pharmacogenetic responses to the medication. When the hypothetical medication response changed from below to above average, significantly more smokers reported a desire to take medication (from 61.0% to 97.5%, p < .0001). These preliminary findings suggest that genetic testing for personalized smoking cessation treatment is well-received by smokers and that a positive hypothetical pharmacogenetic response increases desire to take smoking cessation medication among current smokers motivated to quit. Graphical abstract ᅟ.


Assuntos
Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Testes Genéticos/métodos , Fumantes/psicologia , Abandono do Hábito de Fumar/métodos , Abandono do Hábito de Fumar/psicologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dispositivos para o Abandono do Uso de Tabaco
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