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1.
J Med Genet ; 53(7): 472-80, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26993268

RESUMO

BACKGROUND: Newer approaches to genetic counselling are required for population-based testing. We compare traditional face-to-face genetic counselling with a DVD-assisted approach for population-based BRCA1/2 testing. METHODS: A cluster-randomised non-inferiority trial in the London Ashkenazi Jewish population. INCLUSION CRITERIA: Ashkenazi Jewish men/women >18 years; exclusion criteria: (a) known BRCA1/2 mutation, (b) previous BRCA1/2 testing and (c) first-degree relative of BRCA1/2 carrier. Ashkenazi Jewish men/women underwent pre-test genetic counselling prior to BRCA1/2 testing in the Genetic Cancer Prediction through Population Screening trial (ISRCTN73338115). Genetic counselling clinics (clusters) were randomised to traditional counselling (TC) and DVD-based counselling (DVD-C) approaches. DVD-C involved a DVD presentation followed by shorter face-to-face genetic counselling. Outcome measures included genetic testing uptake, cancer risk perception, increase in knowledge, counselling time and satisfaction (Genetic Counselling Satisfaction Scale). Random-effects models adjusted for covariates compared outcomes between TC and DVD-C groups. One-sided 97.5% CI was used to determine non-inferiority. SECONDARY OUTCOMES: relevance, satisfaction, adequacy, emotional impact and improved understanding with the DVD; cost-minimisation analysis for TC and DVD-C approaches. RESULTS: 936 individuals (clusters=256, mean-size=3.6) were randomised to TC (n=527, clusters=134) and DVD-C (n=409, clusters=122) approaches. Groups were similar at baseline, mean age=53.9 (SD=15) years, women=66.8%, men=33.2%. DVD-C was non-inferior to TC for increase in knowledge (d=-0.07; lower 97.5% CI=-0.41), counselling satisfaction (d=-0.38, 97.5% CI=1.2) and risk perception (d=0.08; upper 97.5% CI=3.1). Group differences and CIs did not cross non-inferiority margins. DVD-C was equivalent to TC for uptake of genetic testing (d=-3%; lower/upper 97.5% CI -7.9%/1.7%) and superior for counselling time (20.4 (CI 18.7 to 22.2) min reduction (p<0.005)). 98% people found the DVD length and information satisfactory. 85-89% felt it improved their understanding of risks/benefits/implications/purpose of genetic testing. 95% would recommend it to others. The cost of genetic counselling for DVD-C=£7787 and TC=£17 307. DVD-C resulted in cost savings=£9520 (£14/volunteer). CONCLUSIONS: DVD-C is an effective, acceptable, non-inferior, time-saving and cost-efficient alternative to TC. TRIAL REGISTRATION NUMBER: ISRCTN 73338115.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Mutação/genética , Feminino , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Humanos , Judeus/genética , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco
2.
J Natl Cancer Inst ; 107(1): 379, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25435541

RESUMO

BACKGROUND: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages. We directly compared the psychological/quality-of-life consequences of such an approach to family history (FH)-based testing. METHODS: In a randomized controlled trial of BRCA1/2 gene-mutation testing in the Ashkenazi Jewish (AJ) population, we compared testing all participants in the population screening (PS) arm with testing those fulfilling standard FH-based clinical criteria (FH arm). Following a targeted community campaign, AJ participants older than 18 years were recruited by self-referral after pretest genetic counseling. The effects of BRCA1/2 genetic testing on acceptability, psychological impact, and quality-of-life measures were assessed by random effects regression analysis. All statistical tests were two-sided. RESULTS: One thousand, one hundred sixty-eight AJ individuals were counseled, 1042 consented, 1034 were randomly assigned (691 women, 343 men), and 1017 were eligible for analysis. Mean age was 54.3 (SD = 14.66) years. Thirteen BRCA1/2 carriers were identified in the PS arm, nine in the FH arm. Five more carriers were detected among FH-negative FH-arm participants following study completion. There were no statistically significant differences between the FH and PS arms at seven days or three months on measures of anxiety, depression, health anxiety, distress, uncertainty, and quality-of-life. Contrast tests indicated that overall anxiety (P = .0001) and uncertainty (P = .005) associated with genetic testing decreased; positive experience scores increased (P = .0001); quality-of-life and health anxiety did not change with time. Overall, 56% of carriers did not fulfill clinical criteria for genetic testing, and the BRCA1/2 prevalence was 2.45%. CONCLUSION: Compared with FH-based testing, population-based genetic testing in Ashkenazi Jews doesn't adversely affect short-term psychological/quality-of-life outcomes and may detect 56% additional BRCA carriers.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Detecção Precoce de Câncer/métodos , Aconselhamento Genético , Heterozigoto , Judeus/genética , Programas de Rastreamento/métodos , Mutação , Neoplasias/genética , Neoplasias/psicologia , Qualidade de Vida , Adulto , Idoso , Ansiedade/etiologia , Técnicas de Apoio para a Decisão , Depressão/etiologia , Feminino , Efeito Fundador , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Estresse Psicológico/etiologia , Fatores de Tempo
3.
J Natl Cancer Inst ; 107(1): 380, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25435542

RESUMO

BACKGROUND: Population-based testing for BRCA1/2 mutations detects the high proportion of carriers not identified by cancer family history (FH)-based testing. We compared the cost-effectiveness of population-based BRCA testing with the standard FH-based approach in Ashkenazi Jewish (AJ) women. METHODS: A decision-analytic model was developed to compare lifetime costs and effects amongst AJ women in the UK of BRCA founder-mutation testing amongst: 1) all women in the population age 30 years or older and 2) just those with a strong FH (≥10% mutation risk). The model assumes that BRCA carriers are offered risk-reducing salpingo-oophorectomy and annual MRI/mammography screening or risk-reducing mastectomy. Model probabilities utilize the Genetic Cancer Prediction through Population Screening trial/published literature to estimate total costs, effects in terms of quality-adjusted life-years (QALYs), cancer incidence, incremental cost-effectiveness ratio (ICER), and population impact. Costs are reported at 2010 prices. Costs/outcomes were discounted at 3.5%. We used deterministic/probabilistic sensitivity analysis (PSA) to evaluate model uncertainty. RESULTS: Compared with FH-based testing, population-screening saved 0.090 more life-years and 0.101 more QALYs resulting in 33 days' gain in life expectancy. Population screening was found to be cost saving with a baseline-discounted ICER of -£2079/QALY. Population-based screening lowered ovarian and breast cancer incidence by 0.34% and 0.62%. Assuming 71% testing uptake, this leads to 276 fewer ovarian and 508 fewer breast cancer cases. Overall, reduction in treatment costs led to a discounted cost savings of £3.7 million. Deterministic sensitivity analysis and 94% of simulations on PSA (threshold £20000) indicated that population screening is cost-effective, compared with current NHS policy. CONCLUSION: Population-based screening for BRCA mutations is highly cost-effective compared with an FH-based approach in AJ women age 30 years and older.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/economia , Detecção Precoce de Câncer/economia , Detecção Precoce de Câncer/métodos , Testes Genéticos/economia , Testes Genéticos/métodos , Judeus/genética , Programas de Rastreamento/economia , Programas de Rastreamento/métodos , Mutação , Neoplasias Ovarianas/economia , Adulto , Idoso , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Análise Custo-Benefício , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Qualidade de Vida , Anos de Vida Ajustados por Qualidade de Vida , Sensibilidade e Especificidade , Reino Unido
4.
J Health Psychol ; 17(6): 809-20, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22104664

RESUMO

This study explores the therapeutic potential of heritage-object handling in nurse-patient encounters with women facing cancer. Ten women participated in an object-focused conversation with a nurse specialist. Sessions were audio-tape recorded and transcribed. Kleinian theory framed the analysis to reveal the individual ways women 'used' the object in the session. Professionally observed heritage-object handling provides an aid to discussion with patients and has potential as an assessment platform for therapeutic work or as an intervention approach in its own right. Further longitudinal controlled trials are needed to evaluate such benefits, particularly given the depth of the talk revealed in this study.


Assuntos
Arte , Neoplasias dos Genitais Femininos/psicologia , Apego ao Objeto , Adulto , Atitude Frente a Saúde , Cultura , Feminino , Humanos , Psicoterapia/métodos
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