Rare Diseases and Outcomes Database (RDOD)
An initiative to advance care for patients with rare conditions
Summary
We aim to develop a provider, researcher and advocate crowdsourced database that encourages submission of otherwise-underreported clinical data on rare conditions by providing a centralized forum complementary to case reports but with minimal logistical or financial burdens to submission. The database will function as an online, open access, minimal-fee, peer-review journal, without limits to the number of articles published as well as a centralized location where all published cases are indexed. This central repository will support systematic reviews and ultimately, clinical research.
Mission
To develop a novel platform for reporting clinical information regarding rare diseases that enables data-pooling, synthesis and collaboration with the goal of advancing care for patients with rare conditions.
Current State of the field
Case reports are an archetypal medical article intended to share new information pertaining to a single or small number of patients. This form of medical writing remains a critical vehicle for medical communication, especially for rare diseases where current knowledge is often based on few known cases.
However, there are presently numerous barriers to sharing case report data. From the potential-author’s perspective, journal submission requirements can be cumbersome (e.g. requiring formal background and discussion sections), and inter-journal variations (e.g. in formatting requirements) hinder re-submissions. And, when case reports are accepted by the journal, the authors often need to pay publication fees and derive little prestige or professional benefit. From the journal’s perspective, there is often perceived limited broad educational value or novelty in these reports. Thus, many case reports are never published. However, for a rare disease, additional reports can dramatically influence understanding of clinical course and treatment outcomes.
We lack coordinated efforts to methodically synthesize published case reports. Systematic reviews are reliant on researchers opting to undertake such projects as there is no institutionalized approach to these efforts. Cases are spread over many journals and in order to perform a systematic review, authors must search various databases and meticulously amalgamate widely heterogeneous case reports. Although considered more impactful than individual case reports, reviews of case reports are also limited in academic benefit to the author. As such, comprehensive reviews are often limited. Further, due to publication bias, authors often attempt to identify a unique perspective for a review. This publication model does not lend itself to providing the medical field with current, thorough, and concise analyses that can guide research and patient care efforts.
However, there are presently numerous barriers to sharing case report data. From the potential-author’s perspective, journal submission requirements can be cumbersome (e.g. requiring formal background and discussion sections), and inter-journal variations (e.g. in formatting requirements) hinder re-submissions. And, when case reports are accepted by the journal, the authors often need to pay publication fees and derive little prestige or professional benefit. From the journal’s perspective, there is often perceived limited broad educational value or novelty in these reports. Thus, many case reports are never published. However, for a rare disease, additional reports can dramatically influence understanding of clinical course and treatment outcomes.
We lack coordinated efforts to methodically synthesize published case reports. Systematic reviews are reliant on researchers opting to undertake such projects as there is no institutionalized approach to these efforts. Cases are spread over many journals and in order to perform a systematic review, authors must search various databases and meticulously amalgamate widely heterogeneous case reports. Although considered more impactful than individual case reports, reviews of case reports are also limited in academic benefit to the author. As such, comprehensive reviews are often limited. Further, due to publication bias, authors often attempt to identify a unique perspective for a review. This publication model does not lend itself to providing the medical field with current, thorough, and concise analyses that can guide research and patient care efforts.
Goals of the Rare Diseases and Outcomes Database
Primary Goals
1) Advocate for patients with rare diseases
Data points lost due to underreporting of diagnosis, management and study of rare entities limit the amount of information available to guide further research that would ultimately benefit patients with these conditions. The database aims to serve this patient population by 1) Facilitating increased reporting, potentially including data capable of promoting development and monitoring of new therapies as well as 2) Improved information organization and synthesis.
Data points lost due to underreporting of diagnosis, management and study of rare entities limit the amount of information available to guide further research that would ultimately benefit patients with these conditions. The database aims to serve this patient population by 1) Facilitating increased reporting, potentially including data capable of promoting development and monitoring of new therapies as well as 2) Improved information organization and synthesis.
2) Enhancing data sharing between physicians, researchers and advocates
The current framework for data sharing in rare diseases is disconnected. Case reports are published in multiple journals, some of which are discoverable by commercial or medicine-specific search engines and a much smaller portion of which are free to access. Registries at the organizational, state, national and international levels often operate independently, collect data inconsistently and have variable accessibility to providers. We aim to enhance data sharing capabilities initially through serving as an open access journal that minimizes barriers to case report publication and curating a central repository of cases for a given rare disease.
A) Minimize barriers to case report submission and facilitate modernized crowdsourcing and data sharing
Physicians routinely rely on each other’s expertise, experiences and research to influence patient care decisions. Case reports effectively serve as a mechanism of more widely communicating this information. In the modern era, it is imperative that we facilitate responsible crowdsourcing from physicians, researchers to generate data that can be used to advance research and care of special patient populations. We minimize barriers to submission by limiting requirements for the clinical vignette including making the accompanying background and discussion optional. Formatting requirements are minimal. Case reports that are valid will all be accepted and there is minimal fee for submission. Authors may also submit updates to case reports.
B) Create a database compatible with current publication models and existing databases
The Rare Diseases and Outcomes Database aims to decrease barriers to reporting cases but not to replace this archetypal for of medical literature. We ask clinicians to submit cases so we may archive, data-mine and report based on the most powerful sample size available. However, the case report in its current state with contextualizing discussion remains important. To integrate the case report modality with the database, we ask authors who have case reports accepted by academic journals to submit the citation information or a link to the article so we may abstract data from this publically available literature. Thus, the database will create a running registry of data that does not interfere with the current publication model or copyright regulations.
Even within medical fields with extensive databases, there is scope for the Rare Diseases and Outcomes Database. For instance, in oncology there are multiple databases including the National Cancer Database (NCDB) and Surveillance Epidemiology and End Results (SEER) database covering approximately 70 and 30 percent of the US population, respectively. Yet, newly identified malignancies such as mammary analog secretory carcinoma, do not have a distinct histology codes. Further, with such databases, clinical variables can lose meaning. For instance, the SEER database reports use of ‘chemotherapy’ without further elaboration on which regimen was used. Last, these databases do not include international reports. Thus, within fields with strong databases, there remains scope for improvement in reporting for rare diseases.
The current framework for data sharing in rare diseases is disconnected. Case reports are published in multiple journals, some of which are discoverable by commercial or medicine-specific search engines and a much smaller portion of which are free to access. Registries at the organizational, state, national and international levels often operate independently, collect data inconsistently and have variable accessibility to providers. We aim to enhance data sharing capabilities initially through serving as an open access journal that minimizes barriers to case report publication and curating a central repository of cases for a given rare disease.
A) Minimize barriers to case report submission and facilitate modernized crowdsourcing and data sharing
Physicians routinely rely on each other’s expertise, experiences and research to influence patient care decisions. Case reports effectively serve as a mechanism of more widely communicating this information. In the modern era, it is imperative that we facilitate responsible crowdsourcing from physicians, researchers to generate data that can be used to advance research and care of special patient populations. We minimize barriers to submission by limiting requirements for the clinical vignette including making the accompanying background and discussion optional. Formatting requirements are minimal. Case reports that are valid will all be accepted and there is minimal fee for submission. Authors may also submit updates to case reports.
B) Create a database compatible with current publication models and existing databases
The Rare Diseases and Outcomes Database aims to decrease barriers to reporting cases but not to replace this archetypal for of medical literature. We ask clinicians to submit cases so we may archive, data-mine and report based on the most powerful sample size available. However, the case report in its current state with contextualizing discussion remains important. To integrate the case report modality with the database, we ask authors who have case reports accepted by academic journals to submit the citation information or a link to the article so we may abstract data from this publically available literature. Thus, the database will create a running registry of data that does not interfere with the current publication model or copyright regulations.
Even within medical fields with extensive databases, there is scope for the Rare Diseases and Outcomes Database. For instance, in oncology there are multiple databases including the National Cancer Database (NCDB) and Surveillance Epidemiology and End Results (SEER) database covering approximately 70 and 30 percent of the US population, respectively. Yet, newly identified malignancies such as mammary analog secretory carcinoma, do not have a distinct histology codes. Further, with such databases, clinical variables can lose meaning. For instance, the SEER database reports use of ‘chemotherapy’ without further elaboration on which regimen was used. Last, these databases do not include international reports. Thus, within fields with strong databases, there remains scope for improvement in reporting for rare diseases.
3) Provide a platform for patient engagement
Patients with rare diseases will have access to a centralized resource for their disease and a platform that facilitates patient engagement. For patients who need information for their own understanding or to advocate for their care, many case reports and reviews are inaccessible or behind paywalls. As is, diagnosis with a rare disease can be isolating. The RDOD is a free resource where patients can learn about their disease and management of other cases. For disease sites with strong community networks, we will provide a centralized list of patient engagement organizations and for diseases without dedicated organizations, we will offer a patient engagement forum.
Patients with rare diseases will have access to a centralized resource for their disease and a platform that facilitates patient engagement. For patients who need information for their own understanding or to advocate for their care, many case reports and reviews are inaccessible or behind paywalls. As is, diagnosis with a rare disease can be isolating. The RDOD is a free resource where patients can learn about their disease and management of other cases. For disease sites with strong community networks, we will provide a centralized list of patient engagement organizations and for diseases without dedicated organizations, we will offer a patient engagement forum.
Secondary Goals
1) Provide comprehensive systematic reviews of the current state of data
Site editors for the database and others are invited to publish comprehensive systematic reviews with an emphasis on clinicopathologic course and treatment based on the cases reported to the database and the literature, at set time intervals or when there is a significant increase in number of reports.
Site editors for the database and others are invited to publish comprehensive systematic reviews with an emphasis on clinicopathologic course and treatment based on the cases reported to the database and the literature, at set time intervals or when there is a significant increase in number of reports.
2) Develop a sustainable approach to maintaining the database that emphasizes the principles of education and mentorship
The database aims to deliver its services through the dedication of predominantly volunteer undergraduate and medical students, residents, fellows and physicians. To facilitate growth and mentorship opportunities, undergraduate and medical students will be engaged in the creation and maintenance of a given disease category including the medical writing of systematic reviews. Overseeing trainees, residents and fellows, will mentor students through this process and in turn be advised by attending physicians in these respective fields.
The database aims to deliver its services through the dedication of predominantly volunteer undergraduate and medical students, residents, fellows and physicians. To facilitate growth and mentorship opportunities, undergraduate and medical students will be engaged in the creation and maintenance of a given disease category including the medical writing of systematic reviews. Overseeing trainees, residents and fellows, will mentor students through this process and in turn be advised by attending physicians in these respective fields.