Access and validation

Governance details

Documents or webpages that describe the overall governance of the data source and processes and procedures for data capture and management, data quality check and validation results (governing data access or utilisation for research purposes).

Biospecimen access

Are biospecimens available in the data source (e.g., tissue samples)?

Yes

Biospecimen access conditions

Dried blood spot cards in Biobank can be accessed for additional omics testing

Access to subject details

Can individual patients/practitioners/practices included in the data source be contacted?

No

Description of data collection

A participant who meets the study-specific eligibility criteria goes through the following steps: 1) Providing Informed consent, 2) the physician registers the participant in an electronic data capture system in pseudonymized form and completes study-specific case report form (CRF) electronically, 3) Blood collection in a CentoCard®, a CE labelled filter card that employs Dried Blood Spot (DBS) technology to screen for pathogenic variants as mentioned inb the study-specific protocol. Following this, the analysis result is linked to the participants existing pseudonymized data.
Event triggering registration

Event triggering registration of a person in the data source

Other
Disease diagnosis

Event triggering registration of a person in the data source, other

sending of sample for diagnostic test

Event triggering de-registration of a person in the data source

Other

Event triggering de-registration of a person in the data source, other

An individual's request to delete data (GDPR) can be accepted if it doesn't contradict with need for Centogene to retain data (arising from different legislation such as German Gendiagnostikgesetz)

Event triggering creation of a record in the data source

1) clinically diagnosed with parkinson disease, 2) family member of a index patient positive for a specifc pathogenic variant known to be causal for parkinsons diseease, 3) High risk population
Data source linkage

Linkage

Is the data source described created by the linkage of other data sources (prelinked data source) and/or can the data source be linked to other data source on an ad-hoc basis?

Yes

Linkage description, pre-linked

Patient centric approach, considering several diagnostic orders that may have placed per patient as well as diagnostics that have been performed to family members

Linkage description, possible linkage

Linkage via Token, if required patient attributes are available and implementation is compliant to relevant legal norm (e.g. GDPR, HIPAA)

Linked data source 1

Pre linked

Is the data source described created by the linkage of other data sources?

No

Data source, other

All sources comply to criteria, mentioned in the following descriptions

Linkage strategy

Deterministic

Linkage variable

Token-ID created from standard patient attributes, such as First Name, Last Name, DOB, Gender, Adress, Zip

Linkage completeness

Availability of required attributes and implementation compliance need to be checked on case by case base for concrete cohort and relevant legal norm(s)

Linked data source 2

Pre linked

Is the data source described created by the linkage of other data sources?

Yes

Data source, other

Various internal sources: LIMS ("Gepado") = diagnostics data, socio demographic data, family data, general clinical data; "eCRF" = clinical data in study context; Bioinformatics "UniDB" = rich genetic data

Linkage strategy

Deterministic

Linkage variable

Patient ID, Order ID, Family ID

Linkage completeness

All available data of each internal data source is linked via the mentioned Linkage variables
Data management specifications that apply for the data source

Data source refresh

Monthly

Informed consent for use of data for research

Required for all studies

Possibility of data validation

Can validity of the data in the data source be verified (e.g., access to original medical charts)?

Yes

Data source preservation

Are records preserved in the data source indefinitely?

No

Approval for publication

Is an approval needed for publishing the results of a study using the data source?

Yes
Common Data Model (CDM) mapping

CDM mapping

Has the data source been converted (ETL-ed) to a common data model?

No