scholarly journals Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?

2021 ◽  
Vol 18 (16) ◽  
pp. 8752
Author(s):  
Azimatun Noor Aizuddin ◽  
Abdul Rahman Ramdzan ◽  
Sharifah Azween Syed Omar ◽  
Zuria Mahmud ◽  
Zarina A. Latiff ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Sharing ◽  
Family Members ◽  
Female Gender ◽  
Insurance Company ◽  
Cancer Genetic ◽  
Malaysian Population ◽  
Government Hospitals ◽  
High Level ◽  
Self Administered Questionnaire

With the increasing number of cancer cases worldwide, genetic testing for familiar cancers seems inevitable, yet little is known on population interest and the monetary value for cancer genetic risk information. The current study aimed to determine the willingness to undergo and pay for cancer genetic testing among the Malaysian population. A self-administered questionnaire was distributed to cancer patients and their family members in the oncology and daycare units in several government hospitals. Of 641 respondents (354 patients, 287 family members), 267 (41.7%) were willing to undergo cancer genetic testing. The median that respondents were willing to pay was USD 48.31 (MYR 200.00) IQR USD 96.91 (MYR 400), while 143 (22.3%) respondents were willing to pay a shared cost with the insurance company. Regression analysis identified independent positive predictors of willingness to pay as respondent’s status as a family member, high education level, and willingness to undergo cancer genetic testing in general, while in patients, female gender and high level of education were identified as independent positive predictors. Generally, the population needs more information to undergo and pay for cancer genetic testing. This will increase the utilization of the services offered, and with cost-sharing practices with the provider, it can be implemented population-wide.

scholarly journals Willingness to Pay for Cancer Genetic Testing in a Tertiary Healthcare Centre

2021 ◽  
Vol 20 (3) ◽  
Author(s):  
Aizuddin AN ◽  
Syed Rusli SAS ◽  
Ramdzan AR ◽  
Syed Omar SA ◽  
Mahmud Z ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Willingness To Pay ◽  
Cancer Patients ◽  
Family Members ◽  
Cancer Genetic ◽  
Healthcare Centre ◽  
Factors Associated ◽  
Personal Benefit ◽  
Tertiary Healthcare ◽  
Knowledge And Attitude

INTRODUCTION: Increasing use of predictive genetic testing to address hereditary cancer risk has been commonly assessed by cost sharing practices. Little is known about how demographics, knowledge, attitude and practices may influence these individuals’ willingness to pay for cancer genetic testing. The objective of this research was to determine factors associated with willingness to pay for cancer genetic testing. MATERIALS AND METHODS: A self-administered questionnaire was distributed to 175 respondents in the oncology and day care unit in one of tertiary healthcare centre. The respondents comprised cancer patients, their family members and the community. RESULTS: A total of 117 (66.9%) participants were willing to pay for cancer genetic testing. Ninety three (79.5%) of respondents were willing to pay from their own pocket with a mean of MYR1201.77 (SD976.72) and 95 (54.3%) respondents were willing to pay, shared with insurance. There were significant associations between willingness to pay with status of respondent as patients or family members or community, gender, race, educational level, income, knowledge and attitude. CONCLUSION: This is the first study to evaluate factors associated with willingness to pay not only among cancer patients but also their family members and the community. These findings reveal that majority of respondents believe there is valuable personal benefit based on genetic risk information and they are willing to pay for it.

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Emily Breidbart ◽  
Liyong Deng ◽  
Patricia Lanzano ◽  
Xiao Fan ◽  
Jiancheng Guo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Exome Sequencing ◽  
Large Scale ◽  
Age Of Onset ◽  
Family Members ◽  
Ethnically Diverse ◽  
Monogenic Diabetes ◽  
Diabetes Diagnosis ◽  
Pathogenic Variants ◽  
Atypical Diabetes

Abstract Objectives There have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY. Methods We used a tiered testing approach focusing initially on GCK and HNF1A and then expanding to exome sequencing for those individuals without identified mutations in GCK or HNF1A. The average age of onset of hyperglycemia or diabetes diagnosis was 19 years (median 14 years) with an average HbA1C of 7.1%. Results Sixty (37.5%) probands had heterozygous likely pathogenic/pathogenic variants in one of the MODY genes, 90% of which were in GCK or HNF1A. Less frequently, mutations were identified in PDX1, HNF4A, HNF1B, and KCNJ11. For those probands with available family members, 100% of the variants segregated with diabetes in the family. Cascade genetic testing in families identified 75 additional family members with a familial MODY mutation. Conclusions Our study is one of the largest and most ethnically diverse studies using exome sequencing to assess MODY genes. Tiered testing is an effective strategy to genetically diagnose atypical diabetes, and familial cascade genetic testing identified on average one additional family member with monogenic diabetes for each mutation identified in a proband.

scholarly journals Cancer genetic testing in marginalized groups during an era of evolving healthcare reform

2021 ◽  
Vol 28 ◽  
pp. 100275
Author(s):  
Stephen M. Modell ◽  
Caitlin G. Allen ◽  
Amy Ponte ◽  
Gail Marcus
Keyword(s):  
Genetic Testing ◽  
Healthcare Reform ◽  
Cancer Genetic ◽  
Marginalized Groups

Results from a Large-Scale Epidemiologic Look-Back Investigation of Improperly Reprocessed Endoscopy Equipment

2012 ◽  
Vol 33 (07) ◽  
pp. 649-656 ◽  
Author(s):  
Mark Holodniy ◽  
Gina Oda ◽  
Patricia L. Schirmer ◽  
Cynthia A. Lucero ◽  
Yury E. Khudyakov ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Large Scale ◽  
Bloodborne Pathogens ◽  
Medical Centers ◽  
B Virus ◽  
Immunodeficiency Virus ◽  
Viral Testing ◽  
Veterans Affairs Medical Centers ◽  
High Level ◽  
Nose And Throat

Objective.To determine whether improper high-level disinfection practices during endoscopy procedures resulted in bloodborne viral infection transmission.Design.Retrospective cohort study.Setting.Four Veterans Affairs medical centers (VAMCs).Patients.Veterans who underwent colonoscopy and laryngoscopy (ear, nose, and throat [ENT]) procedures from 2003 to 2009.Methods.Patients were identified through electronic health record searches and serotested for human immunodeficiency virus (HIV), hepatitis C virus (HCV), and hepatitis B virus (HBV). Newly discovered case patients were linked to a potential source with known identical infection, whose procedure occurred no more than 1 day prior to the case patient's procedure. Viral genetic testing was performed for case/proximate pairs to determine relatedness.Results.Of 10,737 veterans who underwent endoscopy at 4 VAMCs, 9,879 patients agreed to viral testing. Of these, 90 patients were newly diagnosed with 1 or more viral bloodborne pathogens (BBPs). There were no case/proximate pairings found for patients with either HIV or HBV; 24 HCV case/proximate pairings were found, of which 7 case patients and 8 proximate patients had sufficient viral load for further genetic testing. Only 2 of these cases, both of whom underwent laryngoscopy, and their 4 proximates agreed to further testing. None of the 4 remaining proximate patients who underwent colonoscopy agreed to further testing. Mean genetic distance between the 2 case patients and 4 proximate patients ranged from 13.5% to 19.1%.Conclusions.Our investigation revealed that exposure to improperly reprocessed ENT endoscopes did not result in viral transmission in those patients who had viral genetic analysis performed. Any potential transmission of BBPs from colonoscopy remains unknown.

scholarly journals Role of NF-κB and Myc Proteins in Apoptosis Induced by Hepatitis B Virus HBx Protein

2001 ◽  
Vol 75 (1) ◽  
pp. 215-225 ◽  
Author(s):  
Fei Su ◽  
Christian N. Theodosis ◽  
Robert J. Schneider
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Apoptotic Cell ◽  
Regulatory Protein ◽  
Family Members ◽  
Necrosis Factor Alpha ◽  
Tnf Α ◽  
B Virus ◽  
High Level

ABSTRACT Chronic infection with hepatitis B virus (HBV) promotes a high level of liver disease and cancer in humans. The HBV HBx gene encodes a small regulatory protein that is essential for viral replication and is suspected to play a role in viral pathogenesis. HBx stimulates cytoplasmic signal transduction pathways, moderately stimulates a number of transcription factors, including several nuclear factors, and in certain settings sensitizes cells to apoptosis by proapoptotic stimuli, including tumor necrosis factor alpha (TNF-α) and etopocide. Paradoxically, HBx activates members of the NF-κB transcription factor family, some of which are antiapoptotic in function. HBx induces expression of Myc protein family members in certain settings, and Myc can sensitize cells to killing by TNF-α. We therefore examined the roles of NF-κB, c-Myc, and TNF-α in apoptotic killing of cells by HBx. RelA/NF-κB is shown to be induced by HBx and to suppress HBx-mediated apoptosis. HBx also induces c-Rel/NF-κB, which can promote apoptotic cell death in some contexts or block it in others. Induction of c-Rel by HBx was found to inhibit its ability to directly mediate apoptotic killing of cells. Thus, HBx induction of NF-κB family members masks its ability to directly mediate apoptosis, whereas ablation of NF-κB reveals it. Investigation of the role of Myc protein demonstrates that overexpression of Myc is essential for acute sensitization of cells to killing by HBx plus TNF-α. This study therefore defines a specific set of parameters which must be met for HBx to possibly contribute to HBV pathogenesis.

Overview of Prostate Cancer Genetic Testing

2021 ◽  
Author(s):  
Thenappan Chandrasekar ◽  
William K. Kelly ◽  
Leonard G. Gomella
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Cancer Genetic

POVERTY REDUCTION, UNEMPLOYMENT AND RURAL DEVELOPMENT; AFTERMATH OF COVID-19 PANDEMIC IN NIGERIA

2021 ◽  
Vol 9 (1) ◽  
pp. 36-49
Author(s):  
Oderinu Hassana ◽  
◽  
Kadir Mumini ◽  
Tijani Adebayo ◽  
Keyword(s):  
Economic Development ◽  
Rural Development ◽  
Rural Areas ◽  
Poverty Reduction ◽  
Design Method ◽  
Gear Up ◽  
Global Pandemic ◽  
High Level ◽  
Almost All ◽  
Self Administered Questionnaire

Nigeria has one of the countries whose experience of poverty and unemployment is on the high side makes this study to look into the effect of the economic lockdown during the global pandemic in the country, with the aim of making effort on how this effect can be translated into economic development. Survey research design method was adopted with self-administered questionnaire used to collect data. Findings revealed that in Nigeria COVID -19 outbreak effects was felt in almost all sectors and the aftermath greatly affected the country’s GDP and this adversely affect rural development in the country, which translated to a worrisome rate of poverty and unemployment. Hence, both individual and government have now seen that campaigning for economic diversification is not sufficient for economic development but rather a prompt swing into action by all is needed for sustainable development of rural areas to respond to the worrisome rate of unemployment and in turn high level of poverty caused by the COVID-19 lockdown in the country. It was recommended that government at all level as well as individuals and stakeholders should put in place actions that would gear up rural development and set policies at their various helms of affairs that would encourage economic participation of all citizens in all sector of the economy.

Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

2021 ◽  
Author(s):  
Chiara Lena Blomen ◽  
Aliaksandra Pott ◽  
Alexander E. Volk ◽  
Lars Budäus ◽  
Isabell Witzel
Keyword(s):  
Psychological Distress ◽  
Genetic Testing ◽  
Psychological Impact ◽  
Family Members ◽  
Focus Group Interviews ◽  
Two Phase ◽  
Mutation Carriers ◽  
Communication Processes ◽  
Phase Study ◽  
Group Interviews

Abstract Background: The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. This study analyzed the psychological impact of genetic testing and mutation-positive test result as well as associated family communication processes from the perspective of BRCA1 or BRCA2 mutation carriers and their family members.Methods: We conducted a two-phase study with explanatory sequential mixed methods design to understand the perspective of psychological process regarding genetic testing more efficiently. First, we analyzed a survey data of 79 carriers of a BRCA1 or BRCA2 mutation. Second, we conducted focus group interviews of 10 family members to deepen understanding of communication processes in high-risk families.Results: The average age of the BRCA1 or BRCA2 mutation carriers was 48 years, 58% had a history of cancer. The majority (64.6%) had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. The main motives for undergoing genetic testing were desire for safety, prevention and risk assessment for the own children. The mutation carriers were satisfied with the decision to undergo genetic testing. Contrary to their subjective perception, the respondents' knowledge about those mutations was moderate. The familial communication was merely partially successful. In contrast to the high rate of disclosure to at-risk relatives (100%), the reported uptake of genetic testing among informed at-risk relatives was low (45.6%). In-depth focus group interviews with 10 family members revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and the own cancer risk, particulary among males.Conclusion: The detection of a BRCA1 or BRCA2 mutation has psychological impact not only on mutation carriers but also on their family members. An adequate knowledge of the genetic background is required to reduce the level of psychological distress and to support the familial communication process. Therefore, the quality of information sources for affected individuals and relatives and also the awareness of health care professionals have to be improved.

Given the importance of mTOR signaling in a number of illnesses, it looks suitable to use miR 99 family members as a therapeutic intervention to deal with these illnesses by using gene therapy tools

2021 ◽  
Author(s):  
Moataz Dowaidar
Keyword(s):  
Therapeutic Intervention ◽  
Regulatory Network ◽  
Immune Cell ◽  
Family Members ◽  
Cell Activity ◽  
Mtor Signaling ◽  
Critical Pathways ◽  
Functional Roles ◽  
Cell Life ◽  
High Level

This review outlines the activities of mirR99 family members in different cancers. Though the functional roles of these miRs are well described in some malignancies, the functional functions of these family members in other forms of cancer remain uncertain. The development and use of engineered mouse models such as miR99a KO, miR100 KO, or miR99a/100 DKO mice challenged with the type or subtype of the cancer in question would be extremely beneficial in determining the physiological and pathological roles of members of this family in different types of cancer and immune cell subtypes.The miR99 family members, which include miR99a, miR99b, and miR100, are key components of a regulatory network that governs several aspects of the cell life cycle, including differentiation, metabolism, survival and death. They are involved in the deregulation of numerous critical pathways including growth factor receptors like FGFR and IGF1R, Notch, mTOR, TGFB and Wnt signaling pathways to alter cellular function. In addition, the typical miR99 target, mTOR, appears to be at the core of the regulatory network miR99, and is more commonly involved in miR99-mediated dysregulation of cell activity. Given the importance of mTOR signaling in a number of illnesses, it looks suitable to use miR99 family members as a therapeutic intervention to deal with these illnesses. mTOR depletion did not result in upregulating miR99a in OSCC cells. In addition, an aberrant activation of PI3K/AKT/mTOR signaling in AMLs, despite increased expression of miR99 family members in AMLs. All in all, this evidence alludes to the existence of an unknown mechanism that maintains mTOR activity running despite the presence in these cells of a high level of miR99 family members. Modulation of miR99 activity might be a viable method for changing the expression of Treg in autoimmune diseases.

scholarly journals Economic Models of Higher Education: An International Perspective

2015 ◽  
Vol 2 (2) ◽  
Author(s):  
Pierre-Bruno Ruffini
Keyword(s):  
Higher Education ◽  
Cost Sharing ◽  
Economic Models ◽  
State Intervention ◽  
Developed Countries ◽  
International Perspective ◽  
Tuition Fees ◽  
Market Mechanisms ◽  
High Level ◽  
The Cost

As other sectors, higher education can be characterized by the combination of market mechanisms and state intervention in its funding and organization. Although higher education systems of developed countries pursue similar goals (provide high-level manpower, meet individual and social demands, etc.) and face similar challenges (massive expansion, internationalization, MOOCs, etc.) their economic models differ significantly. In some countries, universities are public and charge no or very low tuition fees, whereas in other countries, the cost-sharing with parents and students is much more demanding. The paper will try to underscore and explain these differences by drawing on the lessons of economic analysis and on the historical and cultural background of countries.

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