What are the challenges in diagnosing rare diseases?
Best insight from top research papers
Diagnosing rare diseases poses several challenges. Doctors often have limited familiarity with rare diseases, leading to delayed diagnosis and ineffective treatment . The rarity of these diseases, lack of financial support, and absence of specific drugs make diagnosis and treatment difficult . Patients may seek multiple specialist opinions and suffer from delayed diagnosis . Nonavailability of specific drugs and lack of funding for clinical trials hinder targeted treatment . The large number and variety of rare diseases further complicate diagnosis, and simultaneous presence of multiple diseases can be missed . Establishing precise diagnostic criteria and creating a publicly accessible database of rare diseases would facilitate accurate diagnosis . Next-generation sequencing technologies have improved diagnostic yields, but interpretation and reporting of genome tests remain challenging . Overall, the challenges in diagnosing rare diseases include limited awareness, delayed diagnosis, lack of specific drugs, and the complexity of multiple diseases .
Answers from top 5 papers
More filters
| Papers (5) | Insight |
|---|---|
| The challenges in diagnosing rare diseases include their rarity, large number of disease entities, heterogeneous manifestation, and the possibility of remaining undiagnosed or misdiagnosed for years. | |
1 Citations | The challenges in diagnosing rare diseases include their diversity, misdiagnosis, difficulty in diagnosis, and lack of approved therapies. |
| The paper discusses that the challenges in diagnosing rare diseases include their number, variety of clinical phenomena, and the possibility of simultaneous presence of multiple diseases. | |
| The challenges in diagnosing rare diseases include delayed diagnosis, seeking multiple specialist opinions, lack of specific drugs, and lack of financial support for clinical trials. | |
| The paper mentions that the challenges in diagnosing rare diseases include delayed diagnosis due to doctors' lack of familiarity with rare diseases and low awareness of the diseases. |
Related Questions
What are the lived experiences of patients diagnosed with a rare disease?4 answersPatients diagnosed with rare diseases (RDs) face various challenges and have unique lived experiences. These experiences include difficulty in obtaining a timely correct diagnosis, lack of coordinated and holistic patient care, lack of consideration of patient voice in decision-making processes, and difficulty in navigating the healthcare system due to stigmatization. Rare disease patients often go through a long and arduous process to obtain a correct diagnosis, which can involve multiple misdiagnoses and feelings of being unheard by healthcare providers. Families affected by rare diseases often feel exhausted, stressed, and alone, as rare diseases are often viewed as immutable on healthcare stages. Patients and families affected by rare genetic lysosomal storage diseases (LSDs) face challenges related to disease management, navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens. Adults with primary mitochondrial disease (PMD) cope with their diagnosis through benefit finding, reframing, and maintaining a positive attitude.
What's the prevelance number of patients with rare diseases?5 answersThe prevalence number of patients with rare diseases is estimated to be between 3.5% and 5.9% globally, which equates to 263-446 million people affected at any given time. In the European Union, it is estimated that 27-36 million people suffer from rare diseases. In the United States, there is an estimated prevalence of approximately 25 million citizens. In Germany alone, approximately 4 million patients suffer from a rare disease. Rare diseases account for 16% of visits to primary care physicians. The total point prevalence for all rare diseases in rheumatology was estimated to be 28.8 per 10,000.
How can the monetary impact of a rare disease be assessed?4 answersThe monetary impact of a rare disease can be assessed through various methods. One approach is to conduct cost-of-illness studies from a societal perspective, which can provide insights into the overall burden of the disease on individuals and society as a whole. These studies can help identify the direct medical expenditures associated with the disease and analyze factors that contribute to the costs, such as age, disease type, and number of complications. Another way to assess the economic impact is by estimating the curative care expenditure (CCE) of rare diseases, which involves analyzing the total costs of treatment and identifying the sources of financing, such as out-of-pocket expenditures and social health insurance. Additionally, economic models can be used to evaluate the cost-effectiveness and value of new orphan products for rare diseases, taking into account factors like incomplete efficacy and safety profiles, limited natural history and epidemiology data, and the cost burden of the disease. These approaches can help inform healthcare policy-making, increase public awareness, and support the development of strategies and treatments specific to the context of rare diseases.
Why are rare diseases contested illnesses?5 answersRare diseases are contested illnesses because they pose unique challenges to society and healthcare systems, with limited treatment options available. These diseases affect a small portion of the population, making them less understood and recognized by the medical community. The lack of scientific consensus and conclusive pathogenic explanations for rare diseases contributes to the contestation surrounding them. Additionally, the high cost of drugs for rare diseases and the limited availability of treatment further contribute to the contested nature of these illnesses. However, research on rare diseases has gained importance in recent years, as it has been recognized that studying rare conditions can provide insights into the mechanisms of common diseases and lead to breakthroughs in medical knowledge and treatment options. Overall, the contestation surrounding rare diseases stems from their complexity, limited understanding, and the need for further research and resources to address the unique challenges they present.
What are the challenges in the application of Whole Exome Sequencing in the diagnosis of "rare disorders"?5 answersWhole exome sequencing (WES) is being increasingly used for the diagnosis of rare disorders. However, there are several challenges in its application. One challenge is the quantity and quality of input material, as obtaining sufficient and high-quality DNA samples can be difficult, especially in prenatal cases. Another challenge is the interpretation and reporting of variants, as consistent and accurate interpretation is crucial for making a diagnosis. Additionally, the turnaround time for WES results can be a challenge, as timely decision-making is important in patient care. Furthermore, there are cases where WES does not provide a definitive diagnosis, leading to undiagnosed or negative cases. In such cases, additional techniques and further work-up may be required to identify the underlying genetic cause. Overall, while WES has proven to be a valuable tool in diagnosing rare disorders, addressing these challenges is essential for its successful implementation in clinical practice.
Is metabolic syndrome a rare disease?4 answers