GA4GH_-_FBO_Notice_of_Intent_to_Award_-_Sole_Source_75N97019R00018_26Aug2019.pdf

Advancing Sharing of Phenotypic Information through Fast Healthcare Interoperability Resources® (FHIR®)

General Information

Document Type: Notice of Intent to Award

Solicitation Number: 75N97019R00018

Contract Number:

Posting Date: 8/26/2019

Response Date: 9/10/2019

Classification Code: B529 – Special Studies/Analysis – Scientific Data

NAICS Code: 541990 - All Other Professional, Scientific, and Technical

Services

Contracting Office Address

Department of Health and Human Services, National Institutes of Health, National Library of Medicine, 6707 Democracy Blvd, Suite 105, Bethesda MD 20892-5488.

Description

This is a notice of intent to award a non-competitive purchase order to The Broad Institute, as a host institution of the Global Alliance for Genomics and Health (GA4GH), 415 Main Street, Cambridge, MA 02142 for expertise to (1) support the development of a Fast Healthcare Interoperability Resources® (FHIR®) profile for the Phenopackets schema and (2) conduct pilot-testing with pairs of translational researchers to extract relevant data from electronic health record (EHR) systems for exchange using FHIR and then evaluate how these map to the Phenopackets schema. The overall objective of the acquisition is to increase the availability of high-quality standardized phenotypic information for genomic research and genomic medicine.

If successful, the acquisition will increase the availability of standardized phenotypic data by:

Developing and balloting a FHIR profile for Phenopackets that will include phenotype information being used in genomics;

Engaging key stakeholders (including, genomic researchers, health IT developers, FHIR standard developers, and health care organizations);

Conducting pilot-testing by extracting relevant data using FHIR; and Disseminating outputs.

This is a Firm-Fixed Price contract for an estimated total cost of $700,000.00 and contract term of one 12-month base period and one 12-month option period.

This requirement will be awarded to GA4GH based upon the authority at Federal Acquisition Regulation (FAR) Subpart 6.302-1(a)(2), as supplemented with additional information included in this notice. This requirement is being awarded by the National Library of Medicine (NLM), NIH.

This acquisition will result in the development of a FHIR profile for the GA4GH Phenopackets schema, as well as pilot-testing of clinical data extraction of relevant phenotypic information from an EHR using FHIR and mapping to Phenopackets. This work will require strong connections to the genomic research and clinical community to understand their needs, experience with the development and testing of Phenopackets, experience working with the FHIR standard and established relationships with HL7, and experience with pilot-testing of standards.

GA4GH is a nonprofit alliance formed in 2013 to accelerate the potential for research and medicine to advance human health. The Broad Institute has been a host institution for GA4GH since its inception. As a host institution, the Broad Institute provide services and administrative support (e.g. space, grants management, and human resources) on behalf of GA4GH. GA4GH brings together more than 500 leading organizations across the globe to work together in healthcare, research, patient advocacy, life science, and information technology. GA4GH is working together to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data. Their work builds on their Framework for Responsible Sharing of Genomic and Health-Related Data published in 2014. The Foundational Principles of this Framework guide the responsible sharing of genomic and health related data.

They also facilitate compliance with the obligations and norms set by international and national law and policies.

In particular, in their five-year strategic plan, GA4GH has set a goal of increasing adoption and use of standards and frameworks for genomic data sharing within the research and clinical communities. The strategic plan outlines several work streams, including a clinical and phenotypic data capture work stream, which “supports the clinical adoption of genomics through establishing standard ontologies and information models to describe the clinical phenotype for use in genomic medicine and research, including capture and exchange of information between electronic clinical systems and research.” This work stream is already focused on further development of key terminologies to support the capture of clinical phenotype information.

They have also been working on development of a set of standard processes for defining a reference set of terms relevant for a particular disease or condition.

In addition, GA4GH is already leading related real-world genomic data projects regarding the capture and exchange of clinical phenotype information. These projects have focused on developing the information infrastructure (forms, term lists, information models) to support the capture or sharing of information. This includes the forms used to capture data on patients as they are sequenced as part of clinical demonstration projects. This work provides an important starting point for understanding the terminology and information models that are needed to describe a clinical phenotype to support clinical care and research.

Further, GA4GH has adopted Phenopackets as an open schema and is in a unique position to lead this work given that they have developed and pilot-tested this standard and have close ties to the genomic research and clinical communities. This will be critical to both develop a standard set of FHIR resources for describing a clinical phenotype and to pilot-test the extraction of phenotypes from an EHR using FHIR to test how this maps to the Phenopackets schema and whether these data can be successfully transmitted using FHIR.

Sources having the ability to develop and test the tools and resources that include all the functionalities described above shall provide clear and comprehensive information supporting these abilities. RESPONSES ARE DUE BY SEPTEMBER 6, 2019 AT 2:00PM PREVAILING TIME AND SHALL BE SENT VIA E-MAIL TO: audrey.chamberlin@nih.gov.

Point of Contact

The Point of Contact for this solicitation is Audrey Chamberlin, Contract Specialist.