Validating the use of heritage blood cards for genomic sequencing (RPA Pilot / Seed Project)

Reconstructing the biological profile of unidentified, deceased human individuals in forensic and anthropological contexts is achieved through molecular and morphological methods comprising genotyping genomic loci and phenotyping craniodental anatomical loci. The practice is central to resolving forensic cases disproportionately affecting racial minority groups in the U.S. judicial system, yet current standards are inadequate for the increasingly diverse U.S. demographic. In particular, assessment of racial identity of unidentified deceased individuals remains limited to population affinities at broad continental scales and does not follow current U.S. Census standards that account for multi-racial identities. A central limitation hindering the modernization of forensic standards is the lack of paired genomic and craniodental phenotypic data that can properly inform the biological structure and variation of U.S.-Americans. This project therefore seeks to establish a proof-of-concept for developing a database of paired whole genome and craniodental phenotype data. In this pilot, the project will harness the potential of a heritage blood card collection from a willed body donation program by sequencing a range of genome-wide loci routinely used in modern forensic practice. In doing so, the pilot project will aim to (i) determine the utility of blood spot samples for modern genomic sequencing, (ii) assess the preservation of DNA in heritage blood cards over a decade in standard storage conditions, and (iii) identify the relationship between DNA preservation and blood card data collection since time of death. Results of this pilot study will provide the data necessary for determining the feasibility of generating high-quality genomes from heritage blood cards. These results will serve to justify the long-term development of an externally-funded digital research database of paired genomic and phenotypic data of individuals spanning the diverse and changing demographic of the U.S. population.