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109 changes: 109 additions & 0 deletions _build/html/_sources/background/background_file.rst.txt
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.. _background_file:

RD CDM Background
=================

.. attention::
The RD CDM paper is currently under review. As soon as it is published, we
will provide a link to the paper here and all tables and figures will be
available in the paper.

Introduction
------------

Rare diseases (RDs), though individually rare, collectively impact over 260
million people worldwide, with over 17 million affected in Europe. These
conditions, defined by their low prevalence of fewer than 5 in 10,000
individuals, are often genetically driven, with over 70% of cases suspected to
have a genetic cause. Despite significant advances in medical research,
RD patients still face lengthy diagnostic delays, often due to a lack of
awareness in general healthcare settings and the rarity of RD-specific knowledge
among clinicians. Misdiagnosis and underrepresentation in routine care further
compound the challenges, leaving many patients without timely and accurate
diagnoses.

Interoperability plays a critical role in addressing these challenges,
ensuring the seamless exchange and interpretation of medical data through the
use of internationally agreed standards. In the field of rare diseases, where
data is often scarce and scattered, the importance of structured, standardized,
and reusable medical records cannot be overstated. Interoperable data formats
allow for more efficient research, better care coordination, and a clearer
understanding of complex clinical cases. However, existing medical systems often
fail to support the depth of phenotypic and genotypic data required for rare
disease research and treatment, making interoperability a crucial enabler for
improving outcomes in RD care.

To address these needs, we introduce our RD CDM v2.0.0— a common data model
specifically designed for rare diseases. This RD CDM simplifies the capture,
storage, and exchange of complex clinical data, enabling researchers and
healthcare providers to work with harmonized datasets across different
institutions and countries. The RD CDM is based on the ERDRI-CDS,
a common data set developed by the European Rare Disease Research
Infrastructure (ERDRI) to support the collection of harmonized data for rare
disease research. By extending the ERDRI-CDS with additional concepts and
relationships, based on HL7 FHIR v4.0.1 and the GA4GH Phenopacket Schema v2.0,
the RD CDM provides a comprehensive model for capturing detailed clinical
information alongisde precise genetic data on rare diseases.

RD CDM Overview
---------------

.. image:: ../_static/v2_0_0_dev0/figure1_rd_cdm.png
:alt: RD CDM Diagram
:width: 1400px

Overview of the RD CDM v2.0.0 showing the data elements and sections. The RD CDM
does not define cardinalities or relationships to allow for nation-specific
balloting and implementation.

.. note::
The RD CDM is a community-driven project, and we welcome contributions from
researchers, clinicians, and other stakeholders in the rare disease community.
If you would like to contribute to the RD CDM, please read our `contributing
guidelines <https://rd-cdm.readthedocs.io/en/latest/contributing.html>`_.


RD CDM Table Columns
--------------------

.. image:: ../_static/v2_0_0_dev0/figure2_rd_cdm.jpeg
:alt: RD CDM Table Columns
:width: 600px

This Figure Provides an overview of the table columns used to depict our Rare
Disease Common Data Model (RD CDM). Each column's abbreviation, further
definitions, and explanations are given. We recommend referring to this figure
when reading the tables for each section of our RD CDM.

.. note::
The table can be found in Figshare at the following link:
`RD CDM v2.0.0 Excel Table <https://figshare.com/articles/dataset/_b_Common_Data_Model_for_Rare_Diseases_b_based_on_the_ERDRI-CDS_HL7_FHIR_and_the_GA4GH_Phenopackets_Schema_v2_0_/26509150>`_.


RD CDM Layers of harmonisation
------------------------------

.. image:: ../_static/v2_0_0_dev0/figure3_rd_cdm.jpeg
:alt: RD CDM Layers of Harmonisation
:width: 600px

We analysed to what extent interoperability requirements were met
while harmonising data elements from the ERDRI-CDS, HL7 FHIR resources and
the GA4GH Phenopacket Schema to a single RD CDM. We identified six layers of
harmonisation on the level of each data element: (1) the Alignment Layer,
(2) the Labelling Layer, (3) the Terminology Binding Layer, (4) the Data
Type Layer, (5) the Value Set Layer, and (6) the Value Set Choice Layer. All
layers and their selection criteria are depicted in the figure below.

While over 95% of all data elements are directly aligned with HL7 FHIR or GA4GH
Phenopackets, only one-third of terminology bindings and 80% of value types
match the specifications outlined by these standards. Our ontology-based
approach results in less than 41% of value sets being directly derived from HL7
FHIR and GA4GH Phenopacket Schema, with slightly more than 45% of value set
choices were encoded accordingly.

.. note::
The RD CDM paper is currently under review. As soon as it is published, we
will provide a link to the paper here and all tables and figures will be
available in the paper.

25 changes: 25 additions & 0 deletions _build/html/_sources/changelog.rst.txt
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.. _changelog:

RD CDM Changelog
================

.. attention::
The RD CDM paper is currently under review. As soon as it is published, we
will update the version to 2.0.0 and provide a link to the paper here.
The version 2.0.0.dev0 is the initial release of the RD CDM under review.

This changelog provides a history of the changes to the RD CDM.

.. note::
The RD CDM is currently under active development. We are working on a new
version of the RD CDM which will be available on `Read the Docs <https://rd-cdm.readthedocs.io/en/latest/>`_.

.. note::
Previous versions (v1.0 - v1.7) were developed in a German context and are
not publicly available.

Version 2.0.0.dev0 (2024-09-30)
-------------------------------

- Initial release of the RD CDM.

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.. _contributing:

RD CDM Contributing
===================

As we are actively developing the RD CDM, we welcome contributions in the form
of new resources, new concepts, or new relationships. This RD CDM is a
non-balloted extension of the ERDRI-CDS which aims to provide as an
internationally viable template for the development of country-specific
common data models. Furhtermore, the RD CDM is designed to be compatible with
the GA4GH Phenopacket Schema, HL7 FHIR, and the International Patient Summary.

We encourage contributions to the RD CDM. These contributions can be in the
form of new resources, new concepts, relationships, or implementations.

If you would like to contribute, please consider the following:

1. GitHub Issues
-----------------
Feel free to create a new issue on our `GitHub repository <https://github.com/BIH-CEI/rd-cdm/issues>`_.
We welcome feedback, suggestions, and bug reports.

2. Reach out directly
---------------------

If you have any questions or suggestions, please feel free to reach out to us.
You can contact us via email at [email protected].

3. Implementation
-----------------

We actively encourage users to impleemnt and test our RD CDM in various
healthcare information systems. If you have implemented the RD CDM in your
system, please let us know. We would be happy to hear about your experience
and any feedback you may have.

.. note::
We are currently working on an implementation of the RD CDM in
REDCap to enable the generation of FHIR Resources and Phenopackets from
REDCap. If you would like to contribute to the implementation or have any
questions, feel free to reach out or find us on `GitHub <https://github.com/BIH-CEI/RareLink>`_.

4. Documentation
----------------

If you would like to contribute to the documentation, please feel free create
an issue in our `GitHub repository <https://github.com/BIH-CEI/rd-cdm/issues>_`
or reach out to us directly. We are always looking for ways to improve our
documentation and welcome any suggestions.

.. note::
We are currently working on a new version of the RD CDM documentation
which will be available on `Read the Docs <https://rd-cdm.readthedocs.io/en/latest/>`_.




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.. _index:


Welcome to the RD CDM Documentation!
====================================

.. image:: https://readthedocs.org/projects/rd-cdm/badge/?version=latest
:target: https://rd-cdm.readthedocs.io/en/latest/?badge=latest
:alt: Documentation Status

The Rare Disease Common Data Model (RD CDM) is a non-balloted extension of the
ERDRI-CDS which aims to provide as an internationally viable template for the
development and implementation of country-specific Rare disease common data
models. The RD CDM is designed to be compatible with the GA4GH Phenopacket
Schema, HL7 FHIR, and the International Patient Summary. The ontology-based
approach of the RD CDM allows for the integration of various data sources and
the harmonization of data across different systems.

.. attention::
The RD CDM paper is currently under review. As soon as it is published, we
will provide a link to the paper here and all tables and figures will be
available in the paper.

.. toctree::
:maxdepth: 2
:caption: Contents:

background/background_file
resources/resources_file
usage/usage_file
contributing
license
changelog



Indices and tables
==================

* :ref:`genindex`
* :ref:`modindex`
* :ref:`search`
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.. _license_file:

RD CDM License
==============

The RD CDM is licensed under the MIT License. The full text of the license can
be found in the file `LICENSE <https://github.com/BIH-CEI/rd-cdm/blob/af4eaa3589ed80cfafbec4874ed333f79831bb4d/LICENSE>`_.

We encourage open-source contributions to the RD CDM. If you would like to
contribute, please read our :ref:`contributing` guidelines.

.. attention::

We cannot take responsibility for the correctness of the data in the RD CDM.
The RD CDM is a community-driven project and we encourage contributions from
the community. If you find any errors or have any suggestions, please feel
free to reach out to us.



51 changes: 51 additions & 0 deletions _build/html/_sources/resources/resources_file.rst.txt
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.. _resources_file:

RD CDM Resources
=================

.. attention::
The RD CDM paper is currently under review. As soon as it is published, we
will update the version to 2.0.0 and provide a link to the paper here.
The version 2.0.0.dev0 is the initial release of the RD CDM under review.

In here you find all resources that are available in the RD CDM to download.

RD CDM v2.0.0.dev0
-------------------

Excel Table
~~~~~~~~~~~~
The table provides an overview of the table columns used to depict our Rare
Disease Common Data Model (RD CDM). You can download the RD CDM v2.0.0.dev0
in an Excel here:

- :download:`RD CDM v2.0.0 Excel Table <../_static/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.xlsx>`

or access it on: `Figshare <https://figshare.com/articles/dataset/_b_Common_Data_Model_for_Rare_Diseases_b_based_on_the_ERDRI-CDS_HL7_FHIR_and_the_GA4GH_Phenopackets_Schema_v2_0_/26509150>`_.

.. note::
Each column's abbreviation, further
definitions, and explanations see :ref:`background_file`.

JSON Files Download
''''''''''''''''''''
- :download:`Entire RD CDM v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.json>`
- :download:`Code Systems v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_codesystems_v2_0_0_dev0.json>`
- :download:`Data Elements v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_data_elements_v2_0_0_dev0.json>`
- :download:`Value Sets v2.0.0.dev0 JSON <../../res/v2_0_0_dev0/rd_cdm_value_sets_v2_0_0_dev0.json>`

CSV Files Download
''''''''''''''''''''
- :download:`Combined RD CDM v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_v2_0_0_dev0.csv>`
- :download:`Code Systems v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_codesystems_v2_0_0_dev0.csv>`
- :download:`Data Elements v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_data_elements_v2_0_0_dev0.csv>`
- :download:`Value Sets v2.0.0.dev0 CSV <../../res/v2_0_0_dev0/rd_cdm_value_sets_v2_0_0_dev0.csv>`


For additional details, see :ref:`background_file`.






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.. _usage_file:

RD CDM Usage
============

.. attention::
The RD CDM paper is currently under review. As soon as it is published, we
will provide a link to the paper here and all tables and figures will be
available in the paper. The version 2.0.0.dev0 is the initial release of
the RD CDM under review.

The RD CDM is developed within an open-source community and is available for use
by researchers, clinicians, and other stakeholders in the rare disease community.
The RD CDM is designed to support the collection of harmonized data for rare
disease research and treatment, making interoperability a crucial enabler for
improving outcomes in RD care.

Please see the :ref:`license_file` for information on the RD CDM license.


.. note::
The RD CDM is a community-driven project, and we welcome contributions from
researchers, clinicians, and other stakeholders in the rare disease community.
If you would like to contribute to the RD CDM, please read our :ref:`contributing`.

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