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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.

The elderly often have nutritional problems. The risk of malnutrition can stimulate the prevalence of frailty and declining cognitive function in the elderly. The study aimed to analyze the relationship between nutritional status, frailty, and cognitive function in the elderly at Dr. H. Moch. Ansari Saleh Hospital Banjarmasin. This study was analytic observational using a cross-sectional method. A sample of 93 elderly was obtained using a total sampling technique according to the inclusion and exclusion criteria. The nutritional status assessment was done using the Mini Nutritional Assessment-Short Form (MNA-SF), the Edmonton Frailty Scale (EFS), and the Mini-Mental State Examination (MMSE). The results showed that the mean of Mini Nutritional Assessment score was 12.00±2.126, the average frailty score was 4.41±1.872, and the average value of cognitive function was 25.98±2.923. Data were analyzed using the Spearman's non-parametric correlation test with a 95% confidence level. The correlation test results between nutritional status and frailty obtained p=0.000 and r=-0.490. The correlation test results between nutritional status and cognitive function obtained p=0.000 and r=0.595. In short, there is a relationship between nutritional status on frailty and cognitive function in the elderly at Dr. H. Moch. Ansari Saleh General Hospital Banjarmasin, it means that the good nutritional status in the elderly, the risk of frailty syndrome will decrease and improve cognitive function.

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.

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

Ovarian cancer is the fifth most common cancer in UK women, and the leading cause of gynaecological cancer death. Five-year survival rates, of around 40%, have shown little improvement despite recent advances in cancer treatment. Mutations in the cancer susceptibility genes BRCA1 and BRCA2 confer lifetime risks of breast and ovarian cancer of up to 80% and 40% respectively. The traditional approach of using cancer family history to select patients for genetic testing is being challenged; up to 44% of BRCA mutation carriers do not have a significant family history. Recent research has shown that offering BRCA testing to all women with high grade non-mucinous ovarian cancer is an effective approach to identifying more BRCA carriers. Furthermore, there is an opportunity to prevent ovarian cancer if women at increased risk can be identified before developing the disease. This article is protected by copyright. All rights reserved.

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. In this noninferiority trial, women aged

ObjectivePathogenic 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.MethodsStudy 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.ResultsThe 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.ConclusionResults 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.

Aim: This study explored the attitudes of oncology health professionals towards treatment-focused genetic testing (TFGT) for women newly diagnosed with breast cancer. Materials & methods: Members of several relevant medical organizations in Australia and New Zealand were invited via email to participate in an online survey. Results: A total of 149 respondents, including 40 surgeons, 46 oncologists and 63 breast care nurses, completed the online questionnaire. The majority of respondents believed that TFGT was useful for patient care (87.3%) and valuable for the treatment and management of breast cancer (90.6%). In multivariable analyses, breast care nurses were significantly more likely to agree that TFGT was useful for patient care and the treatment and management of breast cancer compared with oncologists and surgeons (β = 0.30; 95% CI: 0.01–0.60; p = 0.045). Participants also agreed that TFGT has an impact on treatment decision-making (96.0%), uptake of bilateral mastectomy (98.7%) and uptake of risk-reducing salpingo-oophorectomy (98.0%) in women newly diagnosed with breast cancer. A slight preference towards surgeons (49.7%) as the best health professional to make the initial offer of TFGT was observed and the majority of respondents suggested the best time to offer TFGT was shortly after diagnosis, when the treatment plan is discussed. Conclusion: The findings suggest health professionals have positive attitudes towards TFGT. Future training programs focusing on teamwork models and guidelines specifying health professionals’ roles in regards to TFGT and follow-up management may be of benefit.

BackgroundOvarian 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 resultsThis 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.ConclusionsMGT 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.

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. © 2014 John Wiley & Sons, Ltd.

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. © 2013 John Wiley & Sons, Ltd.

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.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.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.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.

Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

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. (PACE 2011;1‐11)

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

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

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.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.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.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.

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.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.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.Children in this study with a prenatally detected de novo ABCR have similar long-term health, developmental and behavioural outcomes compared with population norms.

Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.

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.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.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.These findings have important implications for clinical practice and may help guide medical management for adolescents with ICDs and their families.