Awareness and perception of medical genetic services among Malaysian parents of autism spectrum disorders children: the lessons to be learned

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Farahnaz Amini ◽  
Kok Wah Yee ◽  
Siew Chin Soh ◽  
Abdulateef Alhadeethi ◽  
Roya Amini ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Health Care Providers ◽  
Nuclear Family ◽  
Autism Spectrum ◽  
Genetic Services ◽  
Care Providers ◽  
Medical Genetic ◽  
Content Type ◽  
Children With Asd ◽  
Medical Genetic Services

Purpose Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with uncertain etiology. Evidence shows that genetic testing can explain about 20% of cases. This study aims to assess the level of awareness and perception of medical genetic services among Malaysian parents with ASD children. Design/methodology/approach A cross-sectional survey using an interviewer-administered questionnaire was done among 111 parents of children with ASD from August 2017 to September 2019 in two clinics in Malaysia. Findings A majority of children with ASD (80.20%) were male and diagnosed at the age of 3–4 years old (47.80%). When the autistic child was born, most mothers and fathers were aged 26–30 (40.50%) and 31–35 years old (42.30%), respectively. Another child with ASD in nuclear and extended families was reported for 11.70% and 13.50%, respectively. Only 24.30% have seen a professional genetic consultant, and 19.8% have done genetic testing for affected children. The mean score of awareness of genetic services for ASD was 2.48 ± 3.30. Having medical insurance and another child with ASD in the nuclear family was significantly associated with a higher level of awareness (p = 0.01 and p < 0.001, respectively). Most of the participants have a positive perception of these services. Originality/value Regardless of demographic factors, participants have poor awareness of genetic services for ASD, likely because the primary physician did not recommend it upon diagnosis. Increasing health-care providers’ knowledge about the current potential of genetic testing for ASD and educational campaigns for the public are critical components of using available genetic tests to improve ASD management.

scholarly journals Health care providers’ awareness on medical management of children with autism spectrum disorder: cross-sectional study in Russia

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Y. O. Mukhamedshina ◽  
R. A. Fayzullina ◽  
I. A. Nigmatullina ◽  
C. S. Rutland ◽  
V. V. Vasina
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorder ◽  
Health Care Providers ◽  
Medical Management ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Care Providers ◽  
Positive Effects ◽  
Children With Asd

Abstract Background Autism spectrum disorder (ASD) is a complex developmental range of conditions that involves difficulties with social interaction and restricted/repetitive behaviors. Unfortunately, health care providers often experience difficulties in diagnosis and management of individuals with ASD, and may have no knowledge about possible ways to overcome barriers in ASD patient interactions in healthcare settings. At the same time, the provision of appropriate medical services can have positive effects on habilitative progress, functional outcome, life expectancy and quality of life for individuals with ASD. Methods This online survey research study evaluated the awareness and experience of students/residents (n = 247) and physicians (n = 100) in the medical management of children with ASD. It also gathered the views and experiences of caregivers to children with ASD (n = 158), all based in Russia. Results We have established that the Russian medical community has limited ASD knowledge among providers, and have suggested possible reasons for this. Based on results from online surveys completed by students/residents, non-psychiatric physicians, and caregivers of children diagnosed with ASD, the main problems pertaining to medical management of individuals with ASD were identified. Possible problem solving solutions within medical practice were proposed. Conclusions The results from this study should be considered when implementing measures to improve healthcare practices, and when developing models for effective medical management, due to start not only in Russia but also in a number of other countries.

scholarly journals A review of emergency department visits made by youth and adults with autism spectrum disorder from the parent perspective

2018 ◽  
Vol 4 (1) ◽  
pp. 10-18 ◽  
Author(s):  
Yona Lunsky ◽  
Ami Tint ◽  
Jonathan A. Weiss ◽  
Anna Palucka ◽  
Elspeth Bradley
Keyword(s):  
Autism Spectrum Disorder ◽  
Health Care Providers ◽  
Autism Spectrum ◽  
Emergency Department Visits ◽  
Spectrum Disorder ◽  
Care Providers ◽  
Content Type ◽  
Adolescents And Adults ◽  
Ed Visits ◽  
Adults With Asd

Purpose Past research has shown individuals with autism spectrum disorder (ASD) visit hospital emergency departments (ED) at high rates. In order to assist individuals with ASD, their families and health care providers to improve ED care, it is important to understand these encounters in greater detail. The purpose of this paper is to provide a descriptive summary of the ED experiences of adolescents and adults with ASD, from the perspective of their families. Design/methodology/approach A subset of data from a larger prospective cohort study was used. Specifically, 46 parents of adolescents and adults with ASD provided details concerning 49 ED visits over a 12-month period. Findings Results suggest a range of presentations requiring ED use, and also diverse profiles of those with ASD who visited the ED, in terms of age, gender, and ASD severity. While overall degree of satisfaction with care received in the ED was high, parents provided recommendations to improve the ED experiences for their family members with ASD. Originality/value This is the first study to provide detailed accounts of ED visits from the perspective of parents of adolescents and adults with ASD. Families play an important role in the lives of individuals with ASD across the lifespan and it is important to include their perspective to improve hospital-based care for those with ASD.

Genetic Services, Economics, and Eugenics

1998 ◽  
Vol 11 (3-4) ◽  
pp. 481-491 ◽  
Author(s):  
Diane B. Paul
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Genetic Disease ◽  
Economic Cost ◽  
Genetic Services ◽  
Care Providers ◽  
Contested Meanings ◽  
The Impact

The ArgumentWhat are the aims of genetic services? Do any of these aims deserve to be labeled “eugenics”? Answers to these strenuously debated questions depend not just on the facts about genetic testing and screening but also on what is understood by “eugenics,” a term with multiple and contested meanings. This paper explores the impact of efforts to label genetic services “eugenics” and argues that attempts to protect against the charge have seriously distorted discussion about their purpose(s). Following Ruth Chadwick, I argue that the existence of genetic services presupposes that genetic disease is undesirable and that means should be offered to reduce it. I further argue that the economic cost of such disease is one reason why governments and health care providers deem such services worthwhile. The important question is not whether such cost considerations constitute “eugenics,” but whether they foster practices that are undesirable and, if so, what to do about them. The wielding of the term “eugenics” as a weapon in a war over the expansion of genetic services, conjoined with efforts to dissociate such services from the abortion controversy, has produced a rhetoric about the aims of these services that is increasingly divorced from reality. Candor about these aims is a sine qua non of any useful debate over the legitimacy of the methods used to advance them.

Barriers to healthcare for people on the autism spectrum

2016 ◽  
Vol 2 (1) ◽  
pp. 2-11 ◽  
Author(s):  
Sebastian Dern ◽  
Tanja Sappok
Keyword(s):  
Health Care ◽  
Health Care Providers ◽  
Access To Health Care ◽  
Health Care Services ◽  
Autism Spectrum ◽  
Care Providers ◽  
Self Advocacy ◽  
Content Type ◽  
Special Value ◽  
Autistic Adults

Purpose – Adults on the autism spectrum experience difficulties in receiving health care, and health care providers face difficulties in offering health care to adults on the autism spectrum. The purpose of this paper is first, to assess the various difficulties and second, to provide strategies to overcome them. Design/methodology/approach – In this qualitative research project, current barriers and facilitators to health care services were sampled from a collaboration of autistic self-advocates and autism professionals in Berlin, Germany. The findings were complemented by a review of practical guidelines and research about the service accessibility of patients on the autism spectrum. Findings – A comprehensive list of barriers to health care was compiled and structured according to various aspects, such as “making appointments”, “waiting area”, “communication”, and “examination”. Strategies considering the perceptual and communicative peculiarities of autism were found to improve access to health care for autistic adults. Practical implications – Providing access to the health care system may improve the diagnosis and treatment of mental and somatic illnesses, and thereby, the health status and quality of life for people on the autism spectrum. This recognition of the needs of adults on the autism spectrum may serve as a model for other areas in society, such as education and employment. Originality/value – Data acquisition in this project is of special value because it resulted from collaboration between an autistic self-advocacy organization and professionals working in the field of intellectual developmental disabilities considering the experiences of autistic adults in the entire range of intellectual functioning.

scholarly journals Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program

2021 ◽  
Vol 11 (6) ◽  
pp. 543
Author(s):  
Anna DiNucci ◽  
Nora B. Henrikson ◽  
M. Cabell Jonas ◽  
Sundeep Basra ◽  
Paula Blasi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Screening Program ◽  
Qualitative Interviews ◽  
Care Providers ◽  
Genetic Privacy ◽  
Program Outcomes ◽  
Cascade Testing ◽  
Program Costs

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program’s feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program’s feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

scholarly journals Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

2020 ◽  
Vol 11 (05) ◽  
pp. 755-763
Author(s):  
Shibani Kanungo ◽  
Jayne Barr ◽  
Parker Crutchfield ◽  
Casey Fealko ◽  
Neelkamal Soares
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Care Providers ◽  
Genetic Information ◽  
Ethical Issues ◽  
Interdisciplinary Approach ◽  
Care Providers ◽  
Ethical Considerations ◽  
Electronic Health ◽  
Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

Commentary on “Diabetes and people with learning disabilities: issues for policy, practice and education”

2020 ◽  
Vol 25 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Brianne Redquest ◽  
Yona Lunsky
Keyword(s):  
Health Care ◽  
Learning Disabilities ◽  
Health Care Providers ◽  
Diabetes Care ◽  
Future Research ◽  
Care Providers ◽  
Family Carers ◽  
Content Type ◽  
Policy Practice

Purpose There has been an increase in research exploring the area of intellectual and developmental disabilities (IDD) and diabetes. Despite being described as instrumental to diabetes care for people with IDD, the role and experiences of family carers, such as parents and siblings, are often neglected in this research. However, it is clear that family carers do not feel that they have sufficient knowledge about diabetes. The purpose of this commentary is to extend the content from “Diabetes and people with learning disabilities: Issues for policy, practice, and education (Maine et al., 2020)” and discuss how family carers can feel better supported when caring for someone with IDD and diabetes. Design/methodology/approach This commentary discusses specific efforts such as STOP diabetes, DESMOND-ID and OK-diabetes for people with IDD including family carers. Encouragement is given for health care providers to recommend such programmes to people with IDD and their family carers. It is also suggested that health care providers involve family carers in diabetes care planning and implementation for people with IDD. Findings It is hoped that if changes are made to current diabetes practices and more research with family carers is conducted, diabetes prevention and management for people with IDD will be more successful and family carers can feel more confident in providing support to their loved ones. Originality/value Research exploring the role of family carers in diabetes care for people with IDD and diabetes is very limited. This commentary makes recommendations to help family carers feel better supported in their role. It also provides areas for future research.

Human rights-based conceptions of deservingness: health and precarity

2020 ◽  
Vol 16 (3) ◽  
pp. 279-292
Author(s):  
Sarah Marshall
Keyword(s):  
Health Care ◽  
Human Rights ◽  
Health Care Providers ◽  
Health Care Access ◽  
Migrant Health ◽  
Dominant Negative ◽  
Care Providers ◽  
Content Type ◽  
Care Access ◽  
Health Related

Purpose Ideas of health-related deservingness in theory and practise have largely been attached to humanitarian notions of compassion and care for vulnerable persons, in contrast to rights-based approaches involving a moral-legal obligation to care based on universal citizenship principles. This paper aims to provide an alternative to these frames, seeking to explore ideas of a human rights-based deservingness framework to understand health care access and entitlement amongst precarious status persons in Canada. Design/methodology/approach Drawing from theoretical conceptualizations of deservingness, this paper aims to bring deservingness frameworks into the language of human rights discourses as these ideas relate to inequalities based on noncitizenship. Findings Deservingness frameworks have been used in public discourses to both perpetuate and diminish health-related inequalities around access and entitlement. Although, movements based on human rights have the potential to be co-opted and used to re-frame precarious status migrants as “undeserving”, movements driven by frames of human rights-based deservingness can subvert these dominant, negative discourses. Originality/value To date, deservingness theory has primarily been used to speak to issues relating to deservingness to welfare services. In relation to deservingness and precarious status migrants, much of the literature focuses on humanitarian notions of the “deserving” migrant. Health-related deservingness based on human rights has been under-theorized in the literature and the authors can learn from activist movements, precarious status migrants and health care providers that have taken on this approach to mobilize for rights based on being “human”.

Communication and psychological safety in veterans health administration work environments

2014 ◽  
Vol 28 (6) ◽  
pp. 754-776 ◽  
Author(s):  
Nancy J. Yanchus ◽  
Ryan Derickson ◽  
Scott C. Moore ◽  
Daniele Bologna ◽  
Katerine Osatuke
Keyword(s):  
Health Care Providers ◽  
Care Delivery ◽  
Clinical Care ◽  
Psychological Safety ◽  
Veterans Health Administration ◽  
Employee Perceptions ◽  
Veterans Health ◽  
Health Administration ◽  
Care Providers ◽  
Content Type

Purpose – The purpose of this paper is to explore employee perceptions of communication in psychologically safe and unsafe clinical care environments. Design/methodology/approach – Clinical providers at the USA Veterans Health Administration were interviewed as part of planning organizational interventions. They discussed strengths, weaknesses, and desired changes in their workplaces. A subset of respondents also discussed workplace psychological safety (i.e. employee perceptions of being able to speak up or report errors without retaliation or ostracism – Edmondson, 1999). Two trained coders analysed the interview data using a grounded theory-based method. They excerpted passages that discussed job-related communication and summarized specific themes. Subsequent analyses compared frequencies of themes across workgroups defined as having psychologically safe vs unsafe climate based upon an independently administered employee survey. Findings – Perceptions of work-related communication differed across clinical provider groups with high vs low psychological safety. The differences in frequencies of communication-related themes across the compared groups matched the expected pattern of problem-laden communication characterizing psychologically unsafe workplaces. Originality/value – Previous research implied the existence of a connection between communication and psychological safety whereas this study offers substantive evidence of it. The paper summarized the differences in perceptions of communication in high vs low psychological safety environments drawing from qualitative data that reflected clinical providers’ direct experience on the job. The paper also illustrated the conclusions with multiple specific examples. The findings are informative to health care providers seeking to improve communication within care delivery teams.

Impact of Health Perception and Knowledge on Genetic Testing Decisions Using the Health Belief Model

2022 ◽  
Author(s):  
Safa Elkefi ◽  
Avishek Choudhury ◽  
Olga Strachna ◽  
Onur Asan
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Health Belief Model ◽  
Health Care Providers ◽  
Health Belief ◽  
Care Providers ◽  
Cancer History ◽  
Belief Model ◽  
The Health Belief Model

PURPOSE Early detection of cancer risk is essential as it is associated with a higher chance of survival, more successful treatment, and improved quality of life. Genetic testing helps at-risk patients estimate the likelihood of developing cancer in a lifetime. This study aims to indentify the factors (perceived susceptibility, severity, benefits, and self-efficacy) that impact one's decision to take the genetic test. METHODS We examined the impacts of different factors of the health belief model on the engagement of patients in genetic testing using data from the National Cancer Institute's 2020 cross-sectional nationally representative data published in 2021. Complete surveys were answered by 3,865 participants (weighted population size = 253,815,197). All estimates were weighted to be nationally representative of the US population using the jackknife weighting method for parameter estimation. We used multivariable logistic regression to test our hypotheses for patients who have taken the genetic test for cancer risk detection. We adjusted the multivariate model for age, education, income, race, sex, cancer history, familial cancer history, and education. RESULTS We tested five hypotheses using the health belief model. Respondents who had genetic testing were more likely to rely on their health care providers and genetic counselors to make their decisions. Respondents who had genetic tests also reported less reliability on other sources than doctors: for the internet and social media (odds ratio = 0.33; P < .001) and for journals and magazines (odds ratio = 0.48; P = .007). CONCLUSION The findings show that patients generally rely on suggestions from their health care providers and counselors in genetic testing decisions. These findings also indicate that health care providers play a critical role in helping patients decide whether to use genetic testing to detect cancer risk in the early stages.

Sign in / Sign up

Export Citation Format

Share Document