Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
Más filtros

Banco de datos
Tipo del documento
Intervalo de año de publicación
1.
Int J Gynecol Cancer ; 30(2): 221-226, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31744886

RESUMEN

OBJECTIVE: Pathogenic BRCA variants account for 5.8-24.8% of ovarian cancers. The identification of such a variant can have a significant impact on the affected individual and their relatives, determining eligibility for targeted therapies, predicting treatment response, and granting access to disease prevention strategies. Cancer services are responding to the increased demand for genetic testing with the introduction of mainstreamed genetic testing via oncology clinics. This study aimed to evaluate patient experience of the mainstreamed genetic testing pathway at a tertiary referral center in London, UK. METHODS: Study participants were patients diagnosed with high-grade non-mucinous ovarian cancer, tested via a mainstreamed genetic testing pathway at the tertiary referral center between February 2015 and June 2017. Eligible participants were invited to complete the retrospective study questionnaire. Five quantitative measures with additional free-text items were used to evaluate the patient experience of mainstreamed genetic testing. RESULTS: The tertiary referral center tested 170 ovarian cancer patients. Twenty-three pathogenic BRCA mutations were identified (23/170, 13.5%). One-hundred and six patients (106/170, 62.4%) met the study inclusion criteria. Twenty-nine of those invited to participate (29/106, 27.4%) returned the retrospective study questionnaire. Pathogenic BRCA1/2 variants were identified within four respondents (4/29, 13.8%). Motivations for genetic testing related to improved medical management, and the ability to provide relatives with genetic information. Participants did not appear to be adversely affected by result disclosure post-mainstreamed genetic testing. Two individuals with a pathogenic variant reported that the support provided by the tertiary referral center post-result disclosure could have been improved. CONCLUSION: Results of the current study support further psychosocial research into the expansion of the mainstreamed genetic testing pathway. The results, although promising, have also highlighted the importance of genetic awareness within the multi-disciplinary team and the provision of timely psychological support from genetic specialists.


Asunto(s)
Pruebas Genéticas/métodos , Neoplasias Ováricas/genética , Adulto , Anciano , Proteína BRCA1/genética , Proteína BRCA2/genética , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Neoplasias Ováricas/patología , Neoplasias Ováricas/psicología , Aceptación de la Atención de Salud , Encuestas y Cuestionarios
2.
J Med Genet ; 56(3): 195-198, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-29535157

RESUMEN

BACKGROUND: Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing. METHODS AND RESULTS: This service evaluation reports on the first year of MGT at a tertiary oncology centre in London, UK. In total, 122 patients with high-grade non-mucinous ovarian cancer underwent BRCA germline testing via MGT. Eighteen patients (14.8%) were found to carry a deleterious BRCA1/BRCA2 mutation. Four BRCA carriers did not meet previous criteria for genetic testing and would have been missed. Six BRCA carriers accessed PARP inhibitors post-MGT. Only 22% of patients with a variant of unknown significance (VUS) were referred to clinical genetics services. CONCLUSIONS: MGT appears to be a feasible way of providing BRCA testing to patients with ovarian cancer. Greater clarity of how oncologists use VUS results is needed, as well as further research on psychosocial implications of MGT for patients with ovarian cancer, which may include somatic testing in the future.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Adulto , Anciano , Anciano de 80 o más Años , Manejo de la Enfermedad , Femenino , Genes BRCA1 , Genes BRCA2 , Estudios de Asociación Genética/métodos , Pruebas Genéticas/métodos , Mutación de Línea Germinal , Humanos , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Neoplasias Ováricas/epidemiología , Reino Unido
3.
Anthropol Med ; 27(4): 449-464, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32009452

RESUMEN

In this era of personalisation a patient's molecular profile plays an increasingly central role in development and delivery of personalised medicine. This paper sets out to explore the sociocultural implications of mainstreaming BRCA genetic testing in the treatment of advanced ovarian cancer patients, who carry a BRCA1 or BRCA2 gene mutation. It draws on ethnographic research conducted by between April-June 2016 in a large tertiary London hospital. Participant observation was conducted across two sites. For the first two weeks participant observation was conducted in the traditional genetic testing setting in two separate clinics. From thereon, participant observation was conducted in the clinical encounters of treating patients in the ovarian cancer clinic. In addition, face-to-face interviews were conducted with medical oncologists who worked in the clinic. Contributing to the fields of cancer genetics, personalised medicine and medical material culture studies in medical anthropology the paper seeks to further discussions about the interactions and relationships unfolding between medical objects and subjects across the landscape of cancer care. It highlights the importance of clinic-based ethnography to examine the complexities of identities and technologies as they intersect with the themes of suffering and hope in new and contradictory ways for BRCA-positive patients with late-stage disease. The paper argues that a BRCA mutation is not only central to the political economy of hope but takes on a more materialist nature as it becomes an embodied practice that moves in and beyond the clinic.


Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias Ováricas , Medicina de Precisión/psicología , Antropología Médica , Femenino , Humanos , Mutación/genética , Oncólogos/psicología , Neoplasias Ováricas/etnología , Neoplasias Ováricas/genética , Neoplasias Ováricas/psicología , Neoplasias Ováricas/terapia
4.
Genet Med ; 19(4): 448-456, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-27684037

RESUMEN

PURPOSE: Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed. METHODS: In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH-) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG)). Women completed self-report questionnaires at four time points over 12 months. RESULTS: A total of 135 women were included in the analysis, all of whom opted for TFGT. Decisional conflict about TFGT choice (primary outcome) was not inferior in the IG compared with the UCG (noninferiority margin of -10; mean difference = 2.45; 95% confidence interval -2.87-7.76; P = 0.36). Costs per woman counseled in the IG were significantly lower (AUD$89) compared with the UCG (AUD$173; t(115) = 6.02; P < 0.001). CONCLUSION: A streamlined model of educating women newly diagnosed with breast cancer about TFGT seems to be a cost-effective way of delivering education while ensuring that women feel informed and supported in their decision making, thus freeing resources for other women to access TFGT.Genet Med 19 4, 448-456.


Asunto(s)
Neoplasias de la Mama/genética , Asesoramiento Genético/economía , Adolescente , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/terapia , Análisis Costo-Beneficio , Toma de Decisiones , Femenino , Asesoramiento Genético/métodos , Pruebas Genéticas , Mutación de Línea Germinal , Humanos , Persona de Mediana Edad , Autoinforme , Adulto Joven
6.
BMC Public Health ; 17(1): 503, 2017 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-28545429

RESUMEN

BACKGROUND: Genetic testing for risk of hereditary cancer can help patients to make important decisions about prevention or early detection. US and UK studies show that people from ethnic minority groups are less likely to receive genetic testing. It is important to understand various groups' awareness of genetic testing and its acceptability to avoid further disparities in health care. This review aims to identify and detail awareness, knowledge, perceptions, and attitudes towards genetic counselling/testing for cancer risk prediction in ethnic minority groups. METHODS: A search was carried out in PsycInfo, CINAHL, Embase and MEDLINE. Search terms referred to ethnicity, genetic testing/counselling, cancer, awareness, knowledge, attitudes, and perceptions. Quantitative and qualitative studies, written in English, and published between 2000 and 2015, were included. RESULTS: Forty-one studies were selected for review: 39 from the US, and two from Australia. Results revealed low awareness and knowledge of genetic counselling/testing for cancer susceptibility amongst ethnic minority groups including African Americans, Asian Americans, and Hispanics. Attitudes towards genetic testing were generally positive; perceived benefits included positive implications for personal health and being able to inform family. However, negative attitudes were also evident, particularly the anticipated emotional impact of test results, and concerns about confidentiality, stigma, and discrimination. Chinese Australian groups were less studied, but of interest was a finding from qualitative research indicating that different views of who close family members are could impact on reported family history of cancer, which could in turn impact a risk assessment. CONCLUSION: Interventions are needed to increase awareness and knowledge of genetic testing for cancer risk and to reduce the perceived stigma and taboo surrounding the topic of cancer in ethnic minority groups. More detailed research is needed in countries other than the US and across a broader spectrum of ethnic minority groups to develop effective culturally sensitive approaches for cancer prevention.


Asunto(s)
Etnicidad/psicología , Pruebas Genéticas , Conocimientos, Actitudes y Práctica en Salud/etnología , Grupos Minoritarios/psicología , Neoplasias/etnología , Australia , Etnicidad/estadística & datos numéricos , Humanos , Grupos Minoritarios/estadística & datos numéricos , Riesgo , Estados Unidos
7.
BMC Public Health ; 17(1): 882, 2017 11 16.
Artículo en Inglés | MEDLINE | ID: mdl-29145813

RESUMEN

BACKGROUND: Risk stratification using genetic and other types of personal information could improve current best available approaches to ovarian cancer risk reduction, improving identification of women at increased risk of ovarian cancer and reducing unnecessary interventions for women at lower risk. Amounts of information given to women may influence key informed decision-related outcomes, e.g. knowledge. The primary aim of this study was to compare informed decision-related outcomes between women given one of two versions (gist vs. extended) of a decision aid about stratified ovarian cancer risk-management. METHODS: This was an experimental survey study comparing the effects of brief (gist) information with lengthier, more detailed (extended) information on cognitions relevant to informed decision-making about participating in risk-stratified ovarian cancer screening. Women with no personal history of ovarian cancer were recruited through an online survey company and randomised to view the gist (n = 512) or extended (n = 519) version of a website-based decision aid and completed an online survey. Primary outcomes were knowledge and intentions. Secondary outcomes included attitudes (values) and decisional conflict. RESULTS: There were no significant differences between the gist and extended conditions in knowledge about ovarian cancer (time*group interaction: F = 0.20, p = 0.66) or intention to participate in ovarian cancer screening based on genetic risk assessment (t(1029) = 0.43, p = 0.67). There were also no between-groups differences in secondary outcomes. In the sample overall (n = 1031), knowledge about ovarian cancer increased from before to after exposure to the decision aid (from 5.71 to 6.77 out of a possible 10: t = 19.04, p < 0.001), and 74% of participants said that they would participate in ovarian cancer screening based on genetic risk assessment. CONCLUSIONS: No differences in knowledge or intentions were found between women who viewed the gist version and women who viewed the extended version of a decision aid about risk-stratified ovarian cancer screening. Knowledge increased for women in both decision aid groups. Further research is needed to determine the ideal volume and type of content for decision aids about stratified ovarian cancer risk-management. TRIAL REGISTRATIONS: This study was registered with the ISRCTN registry; registration number: ISRCTN48627877 .


Asunto(s)
Técnicas de Apoyo para la Decisión , Detección Precoz del Cáncer/psicología , Conocimientos, Actitudes y Práctica en Salud , Intención , Neoplasias Ováricas/prevención & control , Adolescente , Adulto , Anciano , Toma de Decisiones , Femenino , Predisposición Genética a la Enfermedad , Humanos , Internet , Persona de Mediana Edad , Neoplasias Ováricas/genética , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
8.
BMC Womens Health ; 16: 46, 2016 07 26.
Artículo en Inglés | MEDLINE | ID: mdl-27460568

RESUMEN

BACKGROUND: Advances in genetic technologies are expected to make population-wide genetic testing feasible. This could provide a basis for risk stratified cancer screening; but acceptability in the target populations has not been explored. METHODS: We assessed attitudes to risk-stratified ovarian cancer (OC) screening based on prior genetic risk assessment using a survey design. Home-based interviews were carried out by the UK Office of National Statistics in a population-based sample of 1095 women aged 18-74. Demographic and personal correlates of attitudes to risk-stratified OC screening based on prior genetic risk assessment were determined using univariate analyses and adjusted logistic regression models. RESULTS: Full data on the key analytic questions were available for 829 respondents (mean age 46 years; 27 % 'university educated'; 93 % 'White'). Relatively few respondents felt they were at 'higher' or 'much higher' risk of OC than other women of their age group (7.4 %, n = 61). Most women (85 %) said they would 'probably' or 'definitely' take up OC genetic testing; which increased to 88 % if the test also informed about breast cancer risk. Almost all women (92 %) thought they would 'probably' or 'definitely' participate in risk-stratified OC screening. In multivariate logistic regression models, university level education was associated with lower anticipated uptake of genetic testing (p = 0.009), but with more positive attitudes toward risk-stratified screening (p <0.001). Perceived risk was not significantly associated with any of the outcome variables. CONCLUSIONS: These findings give confidence in taking forward research on integration of novel genomic technologies into mainstream healthcare.


Asunto(s)
Detección Precoz del Cáncer/métodos , Pruebas Genéticas/métodos , Neoplasias Ováricas/diagnóstico , Opinión Pública , Adolescente , Adulto , Anciano , Actitud , Femenino , Humanos , Persona de Mediana Edad , Medición de Riesgo/métodos , Medición de Riesgo/normas , Medicina Estatal/tendencias , Encuestas y Cuestionarios , Reino Unido
10.
J Genet Couns ; 25(2): 218-27, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26259529

RESUMEN

Next generation sequencing (NGS) for patients at risk of hereditary cancer syndromes can also identify non-cancer related mutations, as well as variants of unknown significance. This study aimed to determine what benefits and shortcomings patients perceive in relation to NGS, as well as their interest and information preferences in regards to such testing. Eligible patients had previously received inconclusive results from clinical mutation testing for cancer susceptibility. Semi-structured telephone interviews were subjected to qualitative analysis guided by the approach developed by Miles and Huberman. The majority of the 19 participants reported they would be interested in panel/genomic testing. Advantages identified included that it would enable better preparation and allow implementation of individualized preventative strategies, with few disadvantages mentioned. Almost all participants said they would want all results, not just those related to their previous diagnosis. Participants felt that a face-to-face discussion supplemented by an information booklet would be the best way to convey information and achieve informed consent. All participants wanted their information stored and reviewed in accordance with new developments. Although the findings indicate strong interest among these individuals, it seems that the consent process, and the interpretation and communication of results will be areas that will require revision to meet the needs of patients.


Asunto(s)
Asesoramiento Genético/métodos , Pruebas Genéticas/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Síndromes Neoplásicos Hereditarios/genética , Aceptación de la Atención de Salud , Adulto , Anciano , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad/genética , Humanos , Consentimiento Informado , Masculino , Persona de Mediana Edad , Síndromes Neoplásicos Hereditarios/diagnóstico , Satisfacción del Paciente , Investigación Cualitativa , Medición de Riesgo
11.
Prenat Diagn ; 34(6): 598-604, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24659467

RESUMEN

OBJECTIVE: This study aims to assess the impact of prenatal diagnosis of de novo apparently balanced chromosome rearrangements (ABCRs) on maternal stress, family functioning and maternal plans of disclosure of genetic information to their child. METHODS: All liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003) were retrospectively ascertained. Of 39 eligible cases, 16 (41%) participated in the study. Mothers of these children completed a questionnaire using standardized measures to assess family functioning, parental distress, parent-child interaction and child characteristics, with open-ended questions regarding disclosure. RESULTS: The majority of mothers appeared to experience normal levels of parenting stress, quality of parent-child interaction and healthy family functioning. However, most mothers recalled experiencing a significant degree of worry at the time of receiving their prenatal test results, and some mothers (4/15) reported receiving uncertain or conflicting results. Most mothers (13/15) conveyed an understanding of the importance of disclosing this genetic information to their child, and 12/15 conveyed their intention to make this disclosure. CONCLUSION: Most mothers reported normal parenting stress and family functioning, despite experiencing significant worry upon receiving results. Some children are at risk of nondisclosure of their carrier status.


Asunto(s)
Ansiedad , Aberraciones Cromosómicas , Revelación , Salud de la Familia , Madres/psicología , Diagnóstico Prenatal/psicología , Adulto , Ansiedad/epidemiología , Ansiedad/etiología , Niño , Preescolar , Femenino , Pruebas Genéticas , Humanos , Intención , Masculino , Relaciones Padres-Hijo , Embarazo , Estudios Retrospectivos , Estrés Psicológico/epidemiología
12.
Prenat Diagn ; 33(9): 831-8, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23592151

RESUMEN

OBJECTIVE: This study aimed to determine if liveborn children with prenatally detected de novo apparently balanced chromosome rearrangements (ABCR) have more long-term health, developmental or behavioural concerns compared with children in a normal Australian population. METHODS: This was a retrospective ascertainment of all liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003). Child health, development and behaviour were assessed by maternal report using standardised measures; educational ability and achievement were measured by direct child assessment. Data were compared with relevant population norms, and one sample t-test performed to test for statistical differences. RESULTS: Of 39 eligible cases, 16 (41%) participated in the study. One child (6%) was born with a congenital anomaly, and two children (12.5%) reported a chronic health concern. Compared with population norms, no significant differences were observed with respect to intelligence, mental health, child development and educational ability; children had significantly higher scores indicative of better functioning on bodily pain, social-emotional behaviour and physical functioning. No child satisfied the criteria for having a special health care need. CONCLUSION: Children in this study with a prenatally detected de novo ABCR have similar long-term health, developmental and behavioural outcomes compared with population norms.


Asunto(s)
Desarrollo Infantil/fisiología , Aberraciones Cromosómicas , Diagnóstico Prenatal , Translocación Genética , Adolescente , Adulto , Niño , Preescolar , Aberraciones Cromosómicas/embriología , Femenino , Salud , Humanos , Recién Nacido , Embarazo , Resultado del Embarazo/epidemiología , Diagnóstico Prenatal/estadística & datos numéricos , Estudios Retrospectivos
13.
BMC Cancer ; 12: 320, 2012 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-22838957

RESUMEN

BACKGROUND: Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. DESIGN/METHODS: In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals' attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention. DISCUSSION: This trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed.


Asunto(s)
Neoplasias de la Mama/psicología , Asesoramiento Genético , Pruebas Genéticas , Factores de Edad , Neoplasias de la Mama/genética , Neoplasias de la Mama/terapia , Protocolos Clínicos , Femenino , Genes BRCA1 , Genes BRCA2 , Asesoramiento Genético/ética , Pruebas Genéticas/ética , Humanos , Mutación
14.
Pacing Clin Electrophysiol ; 35(1): 62-72, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21967596

RESUMEN

BACKGROUND: An implantable cardioverter defibrillator (ICD) is a device used in the treatment of individuals with life-threatening cardiac conditions. These include genetic disorders such as long QT syndrome, hypertrophic cardiomyopathy, and Brugada syndrome, all of which have the propensity to cause sudden cardiac death. Adults with ICDs consistently report elevated levels of anxiety and depression, as well as negative lifestyle changes associated with the device. Compared to older ICD recipients, young patients face decades of life with the device and the long-term impact and implications are important to consider. This research explores the experiences of adolescents living with an ICD. Parents of these adolescents were also included to explore the impact on them as the primary caregivers. METHODS: A qualitative approach was chosen to explore the lived experience; semistructured interviews with six adolescents and six parents were conducted from which a number of key themes emerged. RESULTS: The experiences described by participants included the restrictions adolescents face, the ICD shock experience, and ongoing challenges post-ICD implantation. However, both adolescents and parents were able to adjust to life after receiving an ICD and described several benefits associated with having the device. Findings also emerged relating to communication between health professionals and adolescents, and the limitations adolescents impose on themselves post-ICD implantation. CONCLUSION: These findings have important implications for clinical practice and may help guide medical management for adolescents with ICDs and their families.


Asunto(s)
Actitud Frente a la Salud , Insuficiencia Cardíaca/prevención & control , Insuficiencia Cardíaca/psicología , Padres/psicología , Aceptación de la Atención de Salud/psicología , Calidad de Vida/psicología , Adolescente , Adulto , Australia , Femenino , Humanos , Masculino
15.
Per Med ; 19(2): 139-153, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35060769

RESUMEN

Genetic and genomic data are increasingly guiding clinical care for cancer patients. To meet the growing demand for precision medicine, patient-facing oncology staff will be a part of leading the provision of genomic testing. A scoping review was undertaken to identify the range of genetic and genomic learning needs of oncologists and oncology nurses. Learning needs were reported relating to interpretation of genomic data, clinical decision-making, patient communication and counseling, and fundamentals of genetics and genomics. There was a lack of empirical research specific to oncology nurses and their learning needs in tumor sequencing. Our findings suggest that oncologists and oncology nurses need tailored support, education and training to improve their confidence and skills in adopting genomic testing into clinical practice.


Asunto(s)
Neoplasias , Oncólogos , Genómica , Humanos , Oncología Médica/educación , Neoplasias/genética , Neoplasias/terapia , Medicina de Precisión
16.
Eur J Hum Genet ; 26(7): 972-983, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29599518

RESUMEN

In patients with early breast cancer, personal and tumour characteristics other than family history are increasingly used to prompt genetic testing to guide women's cancer management (treatment-focused genetic testing, 'TFGT'). Women without a known strong family history of breast and/or ovarian may be more vulnerable to psychological sequelae arising from TFGT. We compared the impact of TFGT in women with (FH+) and without (FH-) a strong family history on psychological adjustment and surgical decisions. Women aged <50 years with high-risk features were offered TFGT before definitive breast cancer surgery and completed self-report questionnaires at four time points over 12 months. All 128 women opted for TFGT. TFGT identified 18 carriers of a disease-causing variant (50.0% FH+) and 110 non-carriers (59.1% FH+). There were no differences based on family history in bilateral mastectomy (BM) uptake, p = .190, or uptake of risk-reducing bilateral salpingo-oophorectomy (RRBSO), p = .093. FH- women had lower decreases in anxiety a year after diagnosis, p = .011, and regret regarding their decision whether to undergo BM, p = .022, or RRBSO, p = .016 than FH + women. FH- carriers reported significantly higher regret regarding their TFGT choice (p = .024) and test-related distress (p = .012) than FH + carriers, but this regret/distress could not be attributed to a concern regarding a possible worse prognosis. These findings indicate that FH- women may require additional counselling to facilitate informed decisions. Carriers without a family history may require additional follow-up counselling to facilitate psychological adjustment to their positive variant results, extra support in making surgical decisions, and counselling about how best to communicate results to family members.


Asunto(s)
Neoplasias de la Mama/genética , Pruebas Genéticas , Anamnesis , Neoplasias Ováricas/genética , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/psicología , Neoplasias de la Mama/cirugía , Toma de Decisiones , Femenino , Heterocigoto , Humanos , Persona de Mediana Edad , Mutación , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/psicología , Neoplasias Ováricas/cirugía , Autoinforme , Resultado del Tratamiento
17.
Genet Test Mol Biomarkers ; 20(12): 741-746, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27689416

RESUMEN

AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. RESULTS: The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. DISCUSSION: There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.


Asunto(s)
Riñón Poliquístico Autosómico Dominante/diagnóstico , Riñón Poliquístico Autosómico Dominante/psicología , Diagnóstico Preimplantación/psicología , Diagnóstico Prenatal/psicología , Adulto , Progresión de la Enfermedad , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Persona de Mediana Edad , Riñón Poliquístico Autosómico Dominante/genética , Embarazo , Diagnóstico Preimplantación/métodos , Diagnóstico Prenatal/métodos , Estudios Prospectivos , Encuestas y Cuestionarios
18.
Fam Cancer ; 14(1): 135-44, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25391615

RESUMEN

There is an opportunity to improve outcomes for ovarian cancer (OC) through advances in risk stratification, early detection and diagnosis. A population-based OC genetic risk prediction and stratification program is being developed. A previous focus group study with individuals from the general population showed support for the proposed program. This qualitative interview study explores the attitudes of women at high risk of OC. Eight women participated in one-on-one, in-depth, semi-structured interviews to explore: experiences of learning of OC risk, risk perceptions, OC knowledge and awareness, and opinions on risk stratification approach. There was evidence of strong support for the proposed program. Benefits were seen as providing reassurance to women at low risk, and reducing worry in women at high risk through appropriate clinical management. Stratification into 'low' and 'high' risk groups was well-received. Participants were more hesitant about stratification to the 'intermediate' risk group. The data suggest formats to effectively communicate OC risk estimates will require careful thought. Interactions with GPs were highlighted as a barrier to OC risk assessment and diagnosis. These results are encouraging for the possible introduction and uptake of a risk prediction and stratification program for OC in the general population.


Asunto(s)
Predisposición Genética a la Enfermedad/psicología , Conocimientos, Actitudes y Práctica en Salud , Neoplasias Ováricas/genética , Adulto , Femenino , Pruebas Genéticas , Humanos , Entrevistas como Asunto , Persona de Mediana Edad , Investigación Cualitativa , Factores de Riesgo
19.
Fam Cancer ; 14(2): 265-72, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25391616

RESUMEN

Increasingly, women are offered genetic testing shortly after diagnosis of breast cancer to facilitate decision-making about treatment, often referred to as 'treatment-focused genetic testing' (TFGT). As understanding the attitudes of health professionals is likely to inform its integration into clinical care we surveyed professionals who participated in our TFGT randomized control study. Thirty-six completed surveys were received (response rate 59%), 15 (42%) health professionals classified as genetic and 21 (58%) as non-genetic. Mainly positive experiences with participating in the TFGT trial were reported. The high cost of testing and who could best deliver information about TGFT to the patient were raised as key constraints to implementation of TFGT in usual care. More non-genetic than genetic health professionals (44 vs 8%) preferred that the surgeon provide the information for decision-making about TFGT. While costs of TFGT itself and the time and effort of staff involved were perceived barriers, as testing costs become lower, it is expected that TFGT will become a routine part of standard clinical care for patients at high genetic risk in the near future.


Asunto(s)
Neoplasias de la Mama/genética , Pruebas Genéticas , Personal de Salud , Femenino , Pruebas Genéticas/economía , Humanos , Percepción
20.
Breast ; 24(3): 237-41, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25708717

RESUMEN

PURPOSE: To explore public attitudes towards modifying frequency of mammography screening based on genetic risk. METHODS: Home-based interviews were carried out with a population-based sample of 942 women aged 18-74 years in the UK. Demographic characteristics and perceived breast cancer (BC) risk were examined as predictors of support for risk-stratified BC screening and of the acceptability of raised or lowered screening frequency based on genetic risk, using multivariate logistic regression. RESULTS: Over two-thirds of respondents (65.8%) supported the idea of varying screening frequency on the basis of genetic risk. The majority (85.4%) were willing to have more frequent breast screening if they were found to be at higher risk, but fewer (58.8%) were willing to have less frequent screening if at lower risk (t (956) = 15.6, p < 0.001). Ethnic minority status was associated with less acceptability of more frequent screening (OR = 0.40, 95% CI = 0.21-0.74), but there were no other significant demographic correlates. Higher perceived risk of BC was associated with greater acceptability of more frequent screening (OR = 1.71, 95%CI = 1.27-2.30). CONCLUSION: Women were positive about adjusting the frequency of mammography screening in line with personal genetic risk, but it will be important to develop effective communication materials to minimise resistance to reducing screening frequency for those at lower genetic risk.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Detección Precoz del Cáncer/psicología , Predisposición Genética a la Enfermedad/psicología , Conocimientos, Actitudes y Práctica en Salud , Mamografía/psicología , Adolescente , Adulto , Anciano , Detección Precoz del Cáncer/métodos , Femenino , Humanos , Modelos Logísticos , Mamografía/estadística & datos numéricos , Persona de Mediana Edad , Factores de Riesgo , Encuestas y Cuestionarios , Factores de Tiempo , Reino Unido , Adulto Joven
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA