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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Progress toward Health System Readiness for Genome-Based Testing in Canada.

Don Husereau1, Eva Villalba2, Vivek Muthu3

  • 1School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada.

Current Oncology (Toronto, Ont.)
|June 27, 2023
PubMed
Summary
This summary is machine-generated.

Canada needs to improve its genomic medicine readiness by addressing gaps in data integration, evaluation, and funding. Enhancing these areas will support the adoption of genome-based tests and improve healthcare efficiency.

Keywords:
biomedicalclinical governancediagnostic molecular pathologydiagnostic servicesfinancial supportgenetic servicesgenetic testinghealth technologyhealthcare innovationtechnology assessment

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Area of Science:

  • Genomic Medicine
  • Health Systems Research
  • Innovation Diffusion

Background:

  • Genomic medicine offers significant potential for improving patient outcomes, healthcare experiences, and system efficiency, including cost reduction.
  • An exponential increase in medically necessary genome-based tests is anticipated, creating research and commercial opportunities.
  • Healthcare systems must prepare for the integration of genomic medicine into routine clinical practice.

Conclusions:

  • Canada's healthcare system requires targeted actions to enhance its readiness for widespread genomic medicine implementation.
  • Addressing systemic gaps in infrastructure, evaluation, funding, and stakeholder engagement is essential.
  • Organizational context and social factors significantly influence the successful integration of genomic innovations into healthcare.