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ASHG Report Highlights Functional, Economic Impact of Human Genetics and Genomics

NEW YORK — Human genetics and genomics have a profound impact on both human health and the US economy, advancing biomedical research and clinical practice while generating an estimated $265.4 billion in economic output, according to a new report commissioned by the American Society of Human Genetics.

In the decades since the completion of the Human Genome Project, next-generation sequencing, bioinformatics, and related technologies have become increasingly rapid and affordable. As a result, "the functional impacts of human genetics and genomics are diverse and expanding," the report, produced by TEConomy Partners and published this week, states.

Areas of impact include minable big data, with the assembly of exabytes of genomic information available for analysis to provide insights into genome structure and function and the association of gene variants with human diseases and health disorders; the identification of disease predisposition through carrier testing, pre- and postnatal testing, and child and adult testing; and the diagnosis of both rare and common disorders.

Also benefiting from human genomics and genetics are the fields of rational drug development, through biomarker identification and improved patient selection for clinical trials; precision medicine and pharmacogenomics; gene editing and gene therapy; and microbiomics, metagenomics, and environmental genomics, the report states.

The effects of genetics and genomics extend beyond human health, as well. For instance, DNA fingerprinting has proven to be an invaluable tool in forensic science, while the ability to analyze and compare DNA sequences, both modern and ancient, has helped advance anthropology and evolutionary biology.

"Whether for medical or nonmedical applications, it is clear that human genetics and genomics advancements provide extremely large-scale benefits," the report's authors write. "Genetics and genomics are considered fundamental within modern biological science, providing answers to basic biological research questions, and they underpin a diverse range of applied innovations and applications that are greatly enhancing human health and well-being."

Human genetics and genomics also play a significant economic role, the ASHG report notes. "Substantial US economic activity, supporting a large volume of high-paying jobs across the nation, is generated from the performance of genetic and genomic research, the development and manufacturing of commercial genomic technologies, the broad range of diagnostics products and therapeutics on the market that are derived from genomics knowledge and have pharmacogenomic associations, and the associated healthcare services that are delivered."

Funding for genetic and genomic research from federal organizations, including the National Institutes of Health and the National Science Foundation, as well as from nonfederal groups, such as nonprofits and health associations, reached an estimated $3.4 billion in 2019 — a level of funding that directly employed 13,800 researchers across the US, the report states. Meanwhile, commercial firms operating primarily, if not exclusively, within human genetics and genomics employed an estimated 89,464 people in 2019. That number jumps to 152,174 with the inclusion of genetics- and genomics-related employment at larger industry players with diversified operations.

The direct economic activity generated by the human genetics and genomics industry was over $108 billion in 2019, according to the report, and ultimately supported a total of more than $265 billion across the US economy. Overall, based on tax revenues from and investment in human genetics and genomics, the federal government's return on investment was 4.75 to 1.

"The continued innovation in human genetics and genomics is expanding the stock of knowledge upon which our continued advancement depends and shows great promise to continue to do so long into the future," the ASHG report concludes. "The field represents a particularly strong example of how investing in fundamental and applied science generates robust economic, social, and individual benefits for humankind."

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