NEW YORK (GenomeWeb) – The National Human Genome Research Institute (NHGRI) announced that it intends to establish a series of clinical sites to assess the utility of genome sequencing in various healthcare settings, including ones that serve patients from typically underserved populations. The agency has set aside $21.8 million to fund the sites, as well as a coordinating center, in fiscal year 2017.
In 2011, the NHGRI first established the Clinical Sequencing Evidence-Generating Research (CSER) Consortium to explore the use of genome sequencing in clinical care and to identify challenges and opportunities for the technology in different healthcare contexts.
"These efforts have culminated in a number of scientific advances, including models for genomics-oriented informed consent tailored to the care setting, recommendations to improve the consistency of genomic variant interpretation, and approaches to the disclosure of primary pediatric and tumor findings and of secondary findings more broadly," the NHGRI said.
To build upon this work, the NHGRI is now aiming to create the CSER2, which will focus on defining, generating, and analyzing evidence regarding the clinical utility of genome sequencing in multiple clinical contexts such as specialized medical centers, community clinical, and primary care facilities.
The new consortium will also be tasked with researching critical interactions among patients, family members, health practitioners, and clinical labs that influence the use of clinical genome sequencing; and identifying and addressing real-world barriers to integrating genomic, clinical, and healthcare data within an existing healthcare system to build an evidence base for clinical decision making.
The NHGRI noted that the inclusion of diverse patient populations in a broad range of healthcare settings and clinical conditions will be critical. As such, the CSER2 will also include studies of patients from diverse racial and ethnic backgrounds, as well as understudied and underserved populations.
Each CSER2 clinical site is expected to include and analyze at least 1,100 patients, providing a large sample of ancestrally, clinically, and socioeconomically diverse patients from a spectrum of clinical conditions and healthcare settings that can be used for consortium-wide analyses, including comparisons and sub-group analyses.
The NHGRI said that it will fund between six and 12 clinical sites with $20.8 million in fiscal year 2017. An award of $1 million will be provided to a coordinating center that will oversee the consortium and manage the logistical and administrative aspects of the program.