The Shared Data Model for Research Collection represent various collections of research data including, but not limited, to Consortia, Programs, adhoc collections of Studies and datasets among other types of collections.

The Shared Data Model for Research Data Access Policy represent the various Data Use Agreements that govern a researcher’s access and use of research data.

The Shared Data Model for Research Study represents the understanding of what a Research Study is from the context of users and authors of the NCPI FHIR IG.

Limitations and/or requirements that define how a user may gain access to a particular set of data.

Collections of research data including, but not limited, to Consortia, Programs, adhoc collections of Studies and datasets among other types of collections.

The NCPI Research Study FHIR resource represents an individual research effort and acts as a grouper or “container” for that effort’s study participants and their related data files.

Grouping subject participation within a research study is helpful to provide definitive lists of participants that fit a specific criteria such as All Participants or Participants From a Particular Consent Group, etc.

A ResearchStudySubject is representative of a group of participants whose consent and data use is governed by the same restrictions. This profile is an R4 proxy for the more flexible R5 ResearchSubject.

Descriptive text summarizing the policy restrictions and other details associated with this access provision.

A text label accompanied by a code indicating the label type (such as Acronym, subtitle, etc)

Provides an informative description of acknowledgement expectations for those using data from the research study.

Sponsors, collaborators, and other parties affiliated with a research study.

Codes categorizing the type of study such as investigational vs. observational, type of blinding, type of randomization, safety vs. efficacy, etc.

Link to citations associated with the study’s publications.

ResearchStudySubjectConsent provides link to a consent through which participants were enrolled.

Coding associated with limitation on what research can be performed this data.

A URL pointing to a either a research study’s website, an online document or other research related site or document.

Enumerated list of Collection types

Example terms from Medical Subject Headings (MeSH) Ontology

Enumerated list of access codes such as dbGaP consent codes among others.

Enumerated list of access type codes such as ‘Open Access’, ‘Registered Access’ and ‘Controlled Access’

Some common types of study ‘names’.

Roles associated with study personnel.

Enumerated list of collection types

Codes that would apply to NCPI projects

Enumerated list of access codes such as dbGaP consent codes among others.

Enumerated list of access type codes such as ‘Open Access’, ‘Registered Access’ and ‘Controlled Access’

Some common types of study ‘names’.

Roles associated with study personnel.

The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

GRU data access via DAC

GRU data access via dbGaP

General Research Use (GRU)

General Research Use (GRU)

Genomic Summary Results (GSR) Allowed Access

CBTN Operations Lead

CBTN Registered Tier Access

Brain tumors are the most common form of cancer in children aged 0-19 in the United States, and are the largest cause of cancer-related deaths. The estimated number of new cases in 2019 is nearly 3,800 and thus brain tumors are a rare disease. Despite their relative rarity, the years of potential life lost due to brain tumors in 2009 was estimated at 47,631 years for children and adolescents aged 0-19 in the United States; this is a disproportionate amount of life lost compared to adult cancers and represents an unrecognized societal threat. There is an urgent need to improve therapies for these children. Most of the high-grade glial and embryonal brain cancers still remain largely incurable despite decades of clinical and laboratory research. Existing non-targeted chemotherapies and radiation, while at times effective, often represent pyrrhic victories, leaving behind life-long health burdens and causing a significant risk of secondary malignancies. NIH funded pediatric brain tumor cohort-based genomic dataset generation efforts have lagged behind other histologies and have yet to be included as part of large-scale sequencing efforts. However, consortia-based initiatives like those supported by the Children’s Brain Tumor Network (CBTN) have demonstrated the early potential for clinically annotated genomic cohorts and their utility and interest by both the pediatric cancer and structural birth defect community with more than 130 data access requests for a non-embargoed cohort of tumor/normal whole genomes and paired tumor RNAseq. Indeed more than one quarter of this 800-subject initial sequencing cohort were identified to have birth-defect-associated clinical annotations in their clinical records, however, to our knowledge limited to no trio-based genomics cohort studies exist for any one pediatric brain tumor histology. The project’s proposed sequencing cohort defines the largest, clinically annotated pediatric brain tumor cohort study to date and seeks to define the intersection of germline and somatic underpinnings of pediatric brain tumors across a shared developmental context of cancer and structural birth defects.

Represents the Organization for which CHOP PIs are affiliated

Genomic Summary Results (GSR) Allowed Access

Consented with Health/Medical/Biomedical + IRB Required + Not for profit use

Consented with Health/Medical/Biomedical + Not for profit use

Kids First X01s

BH-CMG study’s population consented under Health/Medical/Biomedical + Not for profit use

CMG Consent Group, Health/Medical/Biomedical + Not for profit use

BH-CMG study’s population consented under Health/Medical/Biomedical + IRB Required + Not for profit use

BH-CMG Consent Group, Health/Medical/Biomedical + IRB Required + Not for profit use

Participants from the CBTN research study

Pediatric Brain Tumor Atlas

Registered Tier Access

The Centers for Medelian Genetics

dbGaP PI

dbGaP PI, X01 FY 2021