scholarly journals A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes

Dermatology ◽  
2021 ◽  
pp. 1-11
Author(s):  
Clare A. Primiero ◽  
Tatiane Yanes ◽  
Anna Finnane ◽  
H. Peter Soyer ◽  
Aideen M. McInerney-Leo

<b><i>Background:</i></b> Although genetic testing for known familial melanoma genes is commercially available, clinical implementation has been restrained as utility is unclear, concerns of causing psychological distress are often cited, and consumer interest and perceptions are not well understood. A review of studies exploring participant-reported psychosocial outcomes and attitudes towards genetic testing for familial melanoma will provide insight into common emotional and cognitive responses. <b><i>Methods:</i></b> Database searches of PubMed, Embase, CINAHL, PsycINFO and the Cochrane Library were conducted using a date range of January 1995 to June 2020. Studies examining any psychosocial outcomes alongside genetic testing (real or hypothetical), in participants described as having a high risk of melanoma, were eligible. A narrative synthesis of results was used to describe psychosocial outcomes and summarise participant beliefs and attitudes towards genetic testing. <b><i>Results:</i></b> Limited evidence of adverse psychosocial outcomes was found. No impacts on perceived risk or control were reported, and minimal decisional regret was recorded. Generalised distress was comparable between both genetic mutation carriers and non-carriers, often decreasing over time from pretesting levels. Melanoma-specific distress was frequently higher in carriers than non-carriers; however, this difference was present prior to testing and often associated with personal melanoma history. Overall, participants’ attitudes towards testing were largely positive, with benefits more frequently described than limitations, and support for testing minors was strong. <b><i>Conclusions:</i></b> This review has found evidence of few adverse psychological outcomes following genetic testing. There was no indication of increased distress after genetic test results had been disclosed. If these findings were replicated in additional, larger, diverse populations over a longer follow-up period, this would be compelling evidence to guide clinical recommendations.

Dermatology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Clare A. Primiero ◽  
Tatiane Yanes ◽  
Anna Finnane ◽  
H. Peter Soyer ◽  
Aideen M. McInerney-Leo

<b><i>Background:</i></b> Increasing availability of panel testing for known high-penetrance familial melanoma genes has made it possible to improve risk awareness in those at greatest risk. Prior to wider implementation, the role of genetic testing in preventing melanoma, through influencing primary and secondary preventative behaviours, requires clarification. <b><i>Methods:</i></b> Database searches of PubMed, Embase, CINAHL, PsycINFO and the Cochrane Library were conducted for studies describing preventative behaviour outcomes in response to genetic testing for melanoma risk. Publications describing original research of any study type were screened for eligibility. <b><i>Results:</i></b> Eighteen publications describing 11 unique studies were reviewed. Outcomes assessed are based on health behaviour recommendations for those at increased risk: adherence to sun-protective behaviour (SPB); clinical skin examinations (CSE); skin self-examinations (SSE); and family discussion of risk. Overall, modest increases in adherence to primary prevention strategies of SPB were observed following genetic testing. Importantly, there were no net decreases in SPB found amongst non-carriers. For secondary preventative behaviour outcomes, including CSE and SSE, increases in post-test intentions and long-term adherence were reported across several subgroups in approximately half of the studies. While this increase reached significance in mutation carriers in some studies, one study reported a significant decline in annual CSE adherence of non-mutation carriers. <b><i>Conclusions:</i></b> Evidence reviewed suggests that genetic testing has a modestly positive impact on preventative behaviour in high-risk individuals. Furthermore, improvements are observed regardless of mutation carrier status, although greater adherence is found in carriers. While additional studies of more diverse cohorts would be needed to inform clinical recommendations, the findings are encouraging and suggest that genetic testing for melanoma has a positive impact on preventative behaviours.


2002 ◽  
Vol 20 (2) ◽  
pp. 514-520 ◽  
Author(s):  
Marc D. Schwartz ◽  
Beth N. Peshkin ◽  
Chanita Hughes ◽  
David Main ◽  
Claudine Isaacs ◽  
...  

PURPOSE: Despite the increasingly widespread availability of BRCA1 and BRCA2 genetic testing, little is known about the psychologic impact of such testing in the clinical setting. The objective of this study was to examine the long-term psychologic impact of receiving BRCA1/2 test results within a clinic-based testing program. PATIENTS AND METHODS: The participants were 279 high-risk women who underwent genetic counseling and testing for alterations in the BRCA1/2 genes. At baseline (before genetic testing) and at 6 months after the disclosure of mutation status, we measured perceived risk for breast and ovarian cancer, cancer-specific distress, and general distress. We examined the impact of the test result on each of these outcomes at the 6-month follow-up. Analyses were conducted separately for probands and their relatives who were unaffected with cancer. RESULTS: We found no effect of test result among affected probands. Among unaffected relatives, we found that participants who received definitive negative test results exhibited significant reductions in perceived risk and distress compared with participants who received positive test results. Importantly, relatives who received positive test results did not exhibit increased distress or perceived risk. CONCLUSION: These results suggest that clinic-based BRCA1/2 testing can lead to psychologic benefits for individuals who receive negative test results. At 6 months after disclosure, those who receive positive or uninformative test results do not exhibit increased psychologic distress or perceived risk.


2020 ◽  
Vol 12 (1) ◽  
pp. 79-92 ◽  
Author(s):  
Raksha R. Deshbhag ◽  
Bijuna C. Mohan

Purpose The purpose of this study is to determine the influence of celebrity credibility (trustworthiness, attractiveness and expertise) on risk perception and buying intention of Indian fast moving consumer goods (FMCG) consumers. Design/methodology/approach The present study adopted the survey method to know the influence of celebrity credibility dimensions on the perceived risk and purchase intentions of Indian FMCG consumers. This study has performed a survey on 250 respondents using the self-administered questionnaire consisting of 18 measurement scales. Findings The major findings of this study indicate celebrity trust and celebrity expertise are the most important dimensions of celebrity to influence the risk perceptions of Indian FMCG consumers. The risk perceptions positively influence the purchase intentions of Indian FMCG consumers. Research limitations/implications This study was limited to the Indian context, but theoretical contributions in terms of justifying the relationship linking variables, which might affect success, as well as the failure of celebrity endorsements. Practical implications The research findings can assist the practitioners in selecting the right celebrity endorser as a spokesperson for promoting Indian FMCG brands based on three dimensions of celebrity credibility (trust, expertise and attractiveness). Originality/value The study has proposed and tested the new theoretical model considering the celebrity trust, celebrity expertise and celebrity attractiveness as the affective responses from the buyers of FMCG. Perceived risk is mainly cognitive responses influenced through celebrity credible sources. The study attempted to investigate the impact of both affective and cognitive responses on the purchase intentions of Indian FMCG consumers.


2018 ◽  
Vol 21 (6) ◽  
pp. 533-537 ◽  
Author(s):  
Ainsley J. Newson ◽  
Sam Ayres ◽  
Jackie Boyle ◽  
Michael T. Gabbett ◽  
Amy Nisselle

The expansion of genetic and genomic testing in clinical practice and research and the growing market for at home personal genome testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry standard that was updated in late 2016. In 2018, the Human Genetics Society of Australasia updated its position statement on genetic testing and life insurance to account for these changes and to increase the scope of the statement to include a wider scope of insurance products that are not rated according to community risk, such as life, critical care, and income protection products. Recommendations include that providers of professional education involving genetics should include ethical, legal, and social aspects of insurance discrimination in their curricula; that the Australian government take a more active role in regulating use of genetic information in personal insurance, including enacting a moratorium on use of genetic test results; that information obtained in the course of a research project be excluded; and that there is improved engagement between the insurance industry, regulators, and the genetics profession.


Author(s):  
Jacquelyn D Riley ◽  
Glenn Stanley ◽  
Robert Wyllie ◽  
Holly L Burt ◽  
Sandra B Horwitz ◽  
...  

Abstract Objectives To determine the impact of an electronic intervention designed to block duplicate constitutional genetic tests. Methods We constructed, implemented, and studied an electronic intervention that stopped duplicate genetic tests. The activation frequency, types of tests affected, and cost savings achieved with this intervention were determined. The frequency and justification of override requests were also studied. Results This intervention stopped 710 unnecessary duplicate genetic tests over a 3-year period and saved $98,596. The tests with the highest numbers of alerts were those used for screening presurgical or transplant patients and were commonly part of an order set or test panel. Most override requests were justified because of the lack of exclusion codes in the initial programming. Conclusions Electronic interventions that stop duplicate genetic testing, if properly constructed, can reduce waste, save health care dollars, and facilitate patient care by directing the provider to a test that has already been performed. 1.Duplicate molecular genetic testing, although generally unnecessary, occurs due to challenges in locating previous results. 2.Clinical decision support at order entry alerts providers to previous genetic test results and restricts repeat orders. 3.This Once-in-a-Lifetime electronic intervention supports a value-based health care model by reducing unnecessary genetic testing and associated costs.


2020 ◽  
Vol 12 (4) ◽  
pp. 471-474
Author(s):  
Elizabeth J. Parks-Stamm ◽  
Jeremy S. Pollack ◽  
Darlene R. Hill

2021 ◽  
Vol 10 (11) ◽  
pp. 2354
Author(s):  
Francesca J. New ◽  
Sally J. Deverill ◽  
Bhaskar K. Somani

Background: Malignant ureteric obstruction occurs in a variety of cancers and has been typically associated with a poor prognosis. Percutaneous nephrostomy (PCN) can potentially help increase patient longevity by establishing urinary drainage and treating renal failure. Our aim was to look at the outcomes of PCN in patients with advanced cancer and the impact on the patients’ lifespan and quality of life. Materials and Methods: A literature review was carried out for articles from 2000 to 2020 on PCN in patients with advanced malignancies, using MEDLINE, EMBASE, Scopus, CINAHL, Cochrane Library, clinicaltrials.gov, and Google Scholar. All English-language articles reporting on a minimum of 20 patients who underwent PCN for malignancy-associated ureteric obstruction were included. Results: A total of 21 articles (1674 patients) met the inclusion criteria with a mean of 60.2 years (range: 21–102 years). PCN was performed for ureteric obstruction secondary to urological malignancies (n = −633, 37.8%), gynaecological malignancies (n = 437, 26.1%), colorectal and GI malignancies (n = 216, 12.9%), and other specified malignancies (n = 205, 12.2%). The reported mean survival times varied from 2 to 8.5 months post PCN insertion, with an average survival time of 5.6 months, which depended on the cancer type, stage, and previous treatment. Conclusions: Patients with advanced malignancies who need PCN tend to have a survival rate under 12 months and spend a large proportion of this time in the hospital. Although the advent of newer chemotherapy and immunotherapy options has changed the landscape of managing advanced cancer, decisions on nephrostomy must be balanced with their survival and quality of life, which must be discussed with the patient.


Children ◽  
2021 ◽  
Vol 8 (5) ◽  
pp. 361
Author(s):  
Ena Pritišanac ◽  
Berndt Urlesberger ◽  
Bernhard Schwaberger ◽  
Gerhard Pichler

Continuous monitoring of arterial oxygen saturation by pulse oximetry (SpO2) is the main method to guide respiratory and oxygen support in neonates during postnatal stabilization and after admission to neonatal intensive care unit. The accuracy of these devices is therefore crucial. The presence of fetal hemoglobin (HbF) in neonatal blood might affect SpO2 readings. We performed a systematic qualitative review to investigate the impact of HbF on SpO2 accuracy in neonates. PubMed/Medline, Embase, Cumulative Index to Nursing & Allied Health database (CINAHL) and Cochrane library databases were searched from inception to January 2021 for human studies in the English language, which compared arterial oxygen saturations (SaO2) from neonatal blood with SpO2 readings and included HbF measurements in their reports. Ten observational studies were included. Eight studies reported SpO2-SaO2 bias that ranged from −3.6%, standard deviation (SD) 2.3%, to +4.2% (SD 2.4). However, it remains unclear to what extent this depends on HbF. Five studies showed that an increase in HbF changes the relation of partial oxygen pressure (paO2) to SpO2, which is physiologically explained by the leftward shift in oxygen dissociation curve. It is important to be aware of this shift when treating a neonate, especially for the lower SpO2 limits in preterm neonates to avoid undetected hypoxia.


Perfusion ◽  
2021 ◽  
pp. 026765912110148
Author(s):  
Joseph Mc Loughlin ◽  
Lorraine Browne ◽  
John Hinchion

Objectives: Cardiac surgery using cardiopulmonary bypass frequently provokes a systemic inflammatory response syndrome. This can lead to the development of low cardiac output syndrome (LCOS). Both of these can affect morbidity and mortality. This study is a systematic review of the impact of gaseous nitric oxide (gNO), delivered via the cardiopulmonary bypass (CPB) circuit during cardiac surgery, on post-operative outcomes. It aims to summarise the evidence available, to assess the effectiveness of gNO via the CPB circuit on outcomes, and highlight areas of further research needed to develop this hypothesis. Methods: A comprehensive search of Pubmed, Embase, Web of Science and the Cochrane Library was performed in May 2020. Only randomised control trials (RCTs) were considered. Results: Three studies were identified with a total of 274 patients. There was variation in the outcomes measures used across the studies. These studies demonstrate there is evidence that this intervention may contribute towards cardioprotection. Significant reductions in cardiac troponin I (cTnI) levels and lower vasoactive inotrope scores were seen in intervention groups. A high degree of heterogeneity between the studies exists. Meta-analysis of the duration of mechanical ventilation, length of ICU stay and length of hospital stay showed no significant differences. Conclusion: This systematic review explored the findings of three pilot RCTs. Overall the hypothesis that NO delivered via the CPB circuit can provide cardioprotection has been supported by this study. There remains a significant gap in the evidence, further high-quality research is required in both the adult and paediatric populations.


2021 ◽  
Vol 11 (5) ◽  
pp. 2365
Author(s):  
Sorinel Căpușneanu ◽  
Dorel Mateș ◽  
Mirela Cătălina Tűrkeș ◽  
Cristian-Marian Barbu ◽  
Adela-Ioana Staraș ◽  
...  

The digital transformation has produced changes in all existing areas of activity worldwide. There are many factors that can influence the intention to use Industry 4.0 processes and solutions and change the behavior of organizations and their business models. The aim of this study is to validate the econometric model on assessing the significant impact of distinct factors on the intention to use Industry 4.0 processes and solutions, the benefits of digital transformation perceived by organizational management and the differences between distinct groups analyzed. The research method used within the quantitative study was the sample survey, using the online questionnaire as a data collection tool. Three hundred forty-seven valid questionnaires were collected and the response rate of the respondents was 64.25%. A new structural model was generated based on the elements of the Unified Theory of Acceptance and Use of Technology (UTAUT). The results of the study indicated that Perceived competitiveness and Perceived risk have a significant impact on Intention to Use Industry 4.0 processes while Perceived vertical networking solutions and Perceived integrated engineering solutions have a significant influence on the Intention to Use Industry 4.0 solutions. In conclusion, there is a positive and significant association between Intention to Use Industry 4.0 solutions and Benefits of Digital Transformation.


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