scholarly journals Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Claudia C. Y. Chung ◽  
Jasmine L. F. Fung ◽  
Adrian C. Y. Lui ◽  
Marcus C. Y. Chan ◽  
Yvette N. C. Ng ◽  
...  
Keyword(s):  
Focus Group ◽  
Rare Disease ◽  
Genetic Disease ◽  
Genetic Diseases ◽  
Face Validity ◽  
Economic Evaluations ◽  
Semantic Equivalence ◽  
Client Service Receipt Inventory ◽  
Rare Genetic Disease ◽  
Near Term

AbstractThe measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research to be locally meaningful yet internationally comparable. Herein, we sought to develop, contextualise, translate, and validate the Client Service Receipt Inventory for the RAre disease population (CSRI-Ra) to be used in cost-of-illness studies and economic evaluations for healthcare planning. Through expert panel discussions and focus group meetings involving 17 rare disease patients, carers, and healthcare and social care professionals from Hong Kong, we have developed the CSRI-Ra. Rounds of forward and backward translations were performed by bilingual researchers, and face validity and semantic equivalence were achieved through interviews and telephone communications with focus group participants and an additional of 13 healthcare professional and university students. Intra-class correlation coefficient (ICC) was used to assess criterion validity between CSRI-Ra and electronic patient record in a sample of 94 rare disease patients and carers, with overall ICC being 0.69 (95% CI 0.56–0.78), indicating moderate to good agreement. Following rounds of revision in the development, contextualisation, translation, and validation stages, the CSRI-Ra is ready for use in empirical research. The CSRI-Ra provides a sufficiently standardised yet adaptable method for collecting socio-economic data related to rare genetic diseases. This is important for near-term and long-term monitoring of the resource consequences of rare diseases, and it provides a tool for use in economic evaluations in the future, thereby helping to inform planning for efficient and effective healthcare. Adaptation of the CSRI-Ra to other populations would facilitate international research.

scholarly journals New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

2020 ◽  
Vol 21 (1) ◽  
pp. 351-372 ◽  
Author(s):  
Taila Hartley ◽  
Gabrielle Lemire ◽  
Kristin D. Kernohan ◽  
Heather E. Howley ◽  
David R. Adams ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Genetic Disease ◽  
New Technologies ◽  
Genetic Diseases ◽  
Well Being ◽  
Accurate Diagnosis ◽  
Diagnostic Odyssey ◽  
Rare Genetic Disease ◽  
Rare Genetic Diseases ◽  
Diagnostic Approaches

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.

scholarly journals Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ayse B. Kolemen ◽  
Enes Akyuz ◽  
Ali Toprak ◽  
Erdem Deveci ◽  
Gozde Yesil
Keyword(s):  
Trait Anxiety ◽  
Genetic Disease ◽  
Disease Risk ◽  
Genetic Diseases ◽  
Diagnostic Procedures ◽  
The State ◽  
Psychological Support ◽  
Rare Genetic Disease ◽  
Genetic Test Results ◽  
Anxiety Levels

Abstract Background The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test results is varies. The demand to learn the diagnosis of a possible untreatable illness involves a struggle between uncertainty and a lifetime chronic disease. The current uncertainty of their child's condition and the long wait for a diagnosis may increase the parents' anxiety level and cause difficulties in the continuation of diagnostic procedures in some families. This study aimed to investigate the prediagnosis and postdiagnosis anxiety levels of parents who have a child with a rare genetic disease. Method The parents in this study, mothers or fathers, admitted their children to the Bezmialem Vakıf University Medical Genetics Clinic due to a suspected rare genetic disease (n = 40). Researchers created “The Sociodemographic Questionnaire” and used it to analyze the parents' sociodemographic status. In addition, they used the State-Trait Anxiety Inventory (STAI) to determine the anxiety levels of the parents. Results The state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels. Conclusion Data from this study revealed that informing parents about their child's disease and properly explaining to them the expected difficulties might help to reduce their anxiety levels. Psychological support for parents is necessary to reduce their long-term stress, thus increasing the patient's compliance with treatment.

scholarly journals Presence of the topic Xeroderma Pigmentoso in scientific articles published between 2003 and 2018

2020 ◽  
pp. 127-134
Author(s):  
Danilo José Silva Moreira ◽  
Juliana Brito da Fonseca ◽  
Karoline Rossi ◽  
Suzana dos Santos Vasconcelos ◽  
Vinicius Faustino Lima de Oliveira ◽  
...  
Keyword(s):  
Rare Disease ◽  
21St Century ◽  
Genetic Disease ◽  
Xeroderma Pigmentosum ◽  
Recessive Character ◽  
Rare Genetic Disease ◽  
Publication Rates ◽  
Selection Of

Xeroderma pigmentosum (XP) is a rare genetic disease, of autosomal and recessive character, and may affect both sexes, regardless of race, and often one case per 250,000 people. This disease has several other symptoms that present themselves heterogeneously over its carriers. The aim of this article was to quantitatively analyze the presence of the topic Xeroderma pigmentoso in scientific articles published between 2003 and 2018. In the identification, a total of 674 results were obtained. The follow-up of the following steps allowed, in the end, the selection of 24 papers. Regarding the language, most of the selected papers were written in Portuguese (around 58.33%), the rest in English (around 41.67%). The highest publication rates occurred between 2015 and 2017 (13%). The years 2007, 2007, 2011, 2014 and 2018 presented intermediate rates (9%) and the lowest rates (4%) occurred in 2003, 2008, 2010 and 2012, and 75% papers were published/presented in the 2nd decade of the 21st century, while the others (25%) were in the 1st decade of the 21st century. The findings of this study showed that there are few scientific studies on XP because it is a rare disease, which possibly leads to few investments in this area, especially with regard to treatment and medications.

scholarly journals Health and the Value of Inheritance: The meanings surrounding a rare genetic disease

2015 ◽  
Vol 12 (1) ◽  
pp. 109-140
Author(s):  
Waleska de Araújo Aureliano
Keyword(s):  
Rare Disease ◽  
Genetic Disease ◽  
Rio De Janeiro ◽  
Genetic Inheritance ◽  
Medical Progress ◽  
Rare Genetic Disease ◽  
The Family ◽  
Machado Joseph Disease

In this article I explore the meanings acquired by the notion of 'genetic inheritance' for families in Rio de Janeiro affected by a rare hereditary disorder, Machado-Joseph disease. My analysis examines three points: 1) how experience of the disease was thematized in the family prior to knowledge of its genetic and hereditary origin; 2) how knowledge of genetics affected the family's perception of their health and reproduction through the notion of risk contained in medical explanations; 3) finally, I problematize the meanings of 'hope,' a sentiment frequently cited by people with the disease and their descendants. Notably, despite the high value attributed to science and 'medical progress,' the use of certain biotechnologies is not always seen as positive or capable of enabling choices and actions in response to a rare disease. Notions of risk, responsibility and hope thus acquire singular contours for managing life and the continuity of the family.

scholarly journals A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Claudia Ching Yan Chung ◽  
Yvette Nga Chung Ng ◽  
Ritu Jain ◽  
Brian Hon Yin Chung
Keyword(s):  
Focus Group ◽  
Rare Disease ◽  
Qualitative Data ◽  
Healthcare Access ◽  
Asia Pacific ◽  
Pacific Region ◽  
Group Meeting ◽  
Asia Pacific Region ◽  
Focus Group Meeting ◽  
The Impact

Abstract Background This study assesses the areas and extent of impact of the Coronavirus Disease of 2019 (COVID-19) pandemic on rare disease (RD) organisations in the Asia Pacific region. There is no existing literature that focuses on such impact on RD organisations in any jurisdictions, nor RD populations across multiple jurisdictions in the Asia Pacific region. A cross-sectional survey was distributed to RD organisations between April and May 2020. Quantitative and qualitative data on the impact of COVID-19 on RD organisations and patients were collected from the organisation representative’s perspective. Qualitative data was analysed using thematic analysis. A follow-up focus group meeting was conducted in August 2020 to validate the survey findings and to discuss specific needs, support and recommendations for sustainable healthcare systems during the pandemic. Results A total of 80 RD organisations from Australia, Hong Kong Special Administrative Region of China, India, Japan, mainland China, Malaysia, New Zealand, the Philippines, Singapore and Taiwan participated in the study. Of all, 89% were concerned about the impact of pandemic on their organisations. Results indicate that 63% of the organisations functioned at a reduced capacity and 42% stated a decrease in funding as their biggest challenge. Overall, 95% believed their patients were impacted, particularly in healthcare access, social lives, physical health, psychological health and financial impact. Specifically, 43% identified the reduced healthcare access as their top impact, followed by 26% about the impact on daily living and social life. Focus group meeting discussed differential impact across jurisdictions and point towards telemedicine and digitalisation as potential solutions. Conclusions This serves as the first study to assess the impact of COVID-19 on RD patients and organisations across multiple jurisdictions in the Asia Pacific region, identifying major themes on the impact on both RD patients and organisations. By including 80 organisations from ten jurisdictions, our study presents the most comprehensive assessment of the pandemic’s impact to date. It highlights the need for mental health support and sheds light on moving towards telemedicine and digitalisation of organisation operation, which constitutes a sustainable model in times of pandemics and beyond.

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

EP165 Significant renal arteriovenous malformation in the context of a rare genetic disease: The Bannayan Riley Ruvalcaba syndrome

2014 ◽  
Vol 13 (5) ◽  
pp. 175
Author(s):  
A.D. Urbina Lima ◽  
A.B. Albano Del Pozo ◽  
J.J. Colombo Stenstrom ◽  
J. Murillo Mirat ◽  
A. Pijierro Amador ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Genetic Disease ◽  
Rare Genetic Disease ◽  
Renal Arteriovenous Malformation

scholarly journals Research and Management of Rare Diseases in the COVID-19 Pandemic Era: Challenges and Countermeasures

2021 ◽  
Vol 9 ◽  
Author(s):  
Sanjana Fatema Chowdhury ◽  
Syed Muktadir Al Sium ◽  
Saeed Anwar
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Genetic Diseases ◽  
Management Strategies ◽  
Routine Care ◽  
Ongoing Research ◽  
The People ◽  
Number Of Patients ◽  
High Level ◽  
Disease Community

The ongoing coronavirus disease 2019 (COVID-19) pandemic has disrupted every aspect of our life. The need to provide high-level care for an enormous number of patients with COVID-19 infection during this pandemic has impacted resourcing for and restricted the routine care of all non-COVID-19 conditions. Since the beginning of the pandemic, the people living with rare disorders, who represent a marginalized group of the population even in a normal world, have not received enough attention that they deserve. Due to the pandemic situation, they have experienced (and experiencing) an extreme inadequacy of regular clinical services, counseling, and therapies they need, which have made their life more vulnerable and feel more marginalized. Besides, the clinicians, researchers, and scientists working on rare genetic diseases face extra challenges due to the pandemic. Many ongoing research projects and clinical trials for rare and genetic diseases were stalled to avoid patients' and research staff's transmission to COVID-19. Still, with all the odds, telehealth and virtual consultations for rare disease patients have shown hope. The clinical, organizational, and economic challenges faced by institutions, patients, their families, and the caregivers during the pandemic indicate the importance of ensuring continuity of care in managing rare diseases, including adequate diagnostics and priority management strategies for emergencies. In this review, we endeavored to shed light on the issues the rare disease community faces during the pandemic and the adaptations that could help the rare disease community to better sustain in the coming days.

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