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A genome is the complete DNA sequence of an organism that includes all of its genes and the DNA between genes. Genomics is the characterization, quantification, and interaction of how all genes influence the biology of an organism.

The Human Genome Project began 30 years ago with the goal of sequencing the DNA of the human genome. Now, the DNA of many, many organisms has been sequenced, revolutionizing research, medicine, and society. The Cancer Genome Atlas (TCGA), for example, brought together scientists from around the world to sequence DNA and RNA from over 20,000 cancer and matched normal samples to uncover the genetic differences for 33 cancer types. This approach, called structural genomics, has identified cancer-causing changes, allowing for a better understanding of the molecular basis of cancer growth, metastasis, and drug resistance. Putting large genomic datasets together and sharing them with researchers worldwide has become an important strategy for diagnosis and treatment.

UNCʼs Lineberger Comprehensive Cancer Center has been a leader in the TGCA project. Since 2016, faculty members Chuck Perou, Katie Hoadley, Joel Parker, and Corbin Jones have contributed to 48 TCGA publications. This work is exemplified in Hoadleyʼs first-authored pan-cancer analysis of the entire TCGA data set. Along with her colleagues, she estimated that at least one in 10 cancer patients might be classified or treated differently using a genomic and molecular taxonomy, rather than the current histopathology-based classification.

There are many other areas that have also benefited from DNA sequencing, some of which include prenatal genetic testing, forensics, direct-to-consumer ancestry, genetic disease diagnostics, and now, SARS-CoV-2 virus surveillance. Dirk Dittmer, for example, has been tracking the virus that causes COVID-19 by sequencing the genome of virus samples collected from patients. Genomic sequencing will help diagnose the novel coronavirus, identify mutations, and track its history.

The National Human Genome Research Institute (NHGRI) just published its 2020 Vision for whatʼs next for genomics over the coming decade, especially in applications to human health and disease. It outlines grand challenges such as understanding the roles and relationships of genes and regulatory elements; determining the genetic architecture of most human diseases and traits; studying diverse ancestral populations to enable scientific discoveries for all; and using genomics to understand health, disease, responsibility, identity, family, and community.

The vision also includes 10 bold predictions for human genomics that will occur by 2030:

  1. Generating and analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as carrying out a DNA purification.
  2. The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.
  3. The general features of the epigenetic landscape and transcriptional output will be routinely incorporated into predictive models of the effect of genotype on phenotype.
  4. Research in human genomics will have moved beyond population descriptors based on historic social constructs such as race.
  5. Studies that involve analyses of genome sequences and associated phenotypic information for millions of human participants will be regularly featured at school science fairs.
  6. The regular use of genomic information will have transitioned from boutique to mainstream in all clinical settings, making genomic testing as routine as complete blood counts.
  7. The clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation “variant of uncertain significance” obsolete.
  8. An individualʼs complete genome sequence along with informative annotations will, if desired, be securely and readily accessible on their smartphone.
  9. Individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics.
  10. Breakthrough discoveries will lead to curative therapies involving genomic modifications for dozens of genetic diseases.
  11. NHGRI believes that these goals can be achieved with further detailed planning that includes input from the global community of scientists, funders, and research participants. The 2020 Vision also stresses that genomic advances during the coming decade will amplify questions related to the societal implications of genomics, which includes those related to social inequities and the ethical, legal, and social (ELSI) issues related to genomics.

    UNC has many research programs that tie into the challenges listed by NHGRI. Eric Juengst, director of the UNC Center for Bioethics, has been a leader in ethical issues surrounding the human genome project. From 1990 to 1994, when the Human Genome Project began, Juengst served as the first chief of the ELSI branch of the National Center for Human Genome Research, which then became the NHGRI. His work continues to focus on the conceptual and ethical issues raised by advances in human genetics and genomics. He is examining the ethical and social implications of personalized genomic medicine as a paradigm for health care.

    Another example is the Integrative Program for Biological and Genome Sciences (IBGS), an integrated program between the College of Arts and Sciences and the School of Medicine. IBGS faculty conduct research into the mechanisms by which molecules and cells coordinate organism development and function using model systems and genomic approaches. The importance of model systems functional genomics was the subject of a recent workshop held by the National Academies.

    We at UNC agree with the NHGRI assessment that “the field, the fundamental sense of curiosity, marvel, and purpose associated with genome science seems to be timeless […] and we are ready to embark on the next exciting phase of the human genomics journey.”

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