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Genomics vs. Genetics: A Close Look

  • The future of healthcare: Genomics

    The future of healthcare: Genomics

    In
    the past few decades, we’ve made large strides in our understanding of genes
    and how they affect our health.

    In
    the middle of the 20th century, we started to understand that DNA carries the
    complete instructions on how a human develops. Not only are scientists now
    studying how certain genes may be related to diseases, but also they’re
    learning how complex relationships between genes and the environment can lead
    to increased risk of certain diseases.

    Genomics
    is an important tool in this research. It goes a step beyond a simple genetic
    understanding. But what is genomics, and how does it differ from genetics?

  • Genetics 101

    Genetics 101

    To
    understand what genomics is, you first need to have a firm grasp on genetics.
    People first started using the word “gene” in 1908, which was before the
    discovery of DNA. Some characteristics and disease risks occur in connection
    with a single gene or region of DNA. Genetics focuses on those individual genes
    and how they influence health and disease.

    Genes
    consist of several thousand base pairs, which are combinations of the four nucleic
    acids:

    • adenosine
    • thymine
    • guanine
    • cytosine

    Genes
    contain everything needed to make proteins. Their unique pattern creates the
    ultimate design of protein it’s meant to create. These proteins are what
    perform all of your body’s processes.

    According
    to the National Human Genome
    Research Institute (NHGRI),
    humans have up to 25,000 genes. Three billion base pairs make up our entire
    DNA. The NHGRI states that every cell in our bodies has a complete copy
    of the approximately three billion DNA base pairs that make up the human
    genome.

  • Genetics and disease

    Genetics and disease

    The study of genetics led to the identification of thousands
    of genes that play a role in disease. Although some genes have subtle effects
    that scientists don’t fully understand, other gene patterns are responsible for
    diseases catastrophic to human health.

    Some
    examples of single-gene diseases include:

    • sickle-cell anemia
    • cystic fibrosis
    • Huntington’s disease
    • hemophilia A

    Single
    genes can also mutate during your lifespan, which may cause a range of effects,
    including having no effect to potentially leading to cancer. Genetics helps us
    understand how genes influence the growth of cancer cells. The National Cancer Institute also notes that genetics has
    also shown us how inherited genes, like the BRCA1 and BRCA2 genes, can predispose some
    people to develop cancer mutations.

  • The big picture

    The big picture

    Thousands of single-gene inherited diseases exist, but
    scientists don’t understand the significance of all of them well. For example,
    scientists may identify a section of DNA that occurs in those with a certain disease.
    However, it takes time to understand what that gene does and which proteins the
    gene makes or controls. Knowing what a gene does allows scientists to develop
    better understanding and treatments for the disease.

    New
    techniques are evolving to allow geneticists to understand the link between
    genes and the molecules that lead to disease. One of those tools is genomics.
    Genomics is the study of not just single genes, but the entire set of genes,
    known as the genome.

  • The Human Genome Project

    The Human Genome Project

    The Human Genome Project was a project to create a
    dictionary containing every gene in a human. The Human Genome Project was
    completed in 2003. It made available a set of three billion base pairs for a
    generic human. In 2005, a map of all the different variations seen in humans
    was published. Currently, researchers continue to determine what the variations
    mean.

    The
    availability of the entire genome of humans and several other species allows
    researchers to study genes in new ways. It’s now easier to understand how genes
    interact with each other and with the environment.

  • Genomics impact

    Genomics impact

    Looking at the entire set of genes allows us to understand subtler
    relationships. Instead of only understanding single-gene diseases, such as sickle
    cell anemia or cystic fibrosis, we can study complex illnesses such as heart disease,
    diabetes, and cancer. It’s possible to conduct medical studies to look at the
    impact of environmental factors, including diet, exercise, and chemical
    exposure, on genes.

    Scientists
    are using the new tools of genomics to study complex diseases, including:

    With
    the information gained from genomic studies, scientists can identify people who
    are more likely to have certain diseases. This knowledge then allows us to work
    on preventing the onset of disease in those people. It can also help with
    family planning and genetic counseling if certain diseases are more common in
    your family.

  • Pharmacogenomics

    Pharmacogenomics

    One of the most promising research areas in genomics is
    pharmacogenomics. This is the study of how different people react to different
    medications.

    Due
    to genetic variations between individuals, some people can’t take certain medications.
    Sometimes, differences in how the body metabolizes, or processes, a drug means
    that only certain people can successfully take that drug. A variation can exist
    in how different individuals are affected due to genetic differences.

    In
    the past, large differences in the safety and efficacy of a drug prevented that
    drug from being approved for use. Some very effective drugs for a certain
    population haven’t been made available to the public because of this problem. However,
    for some medications, genetic tests are now able to approximate how a specific
    drug affects a person. This leads to more successful treatment and the
    reduction of adverse drug reactions. However, this is not commonly in use for
    most medications.

  • The future of genomics

    The future of genomics

    Genomics is also looking at the complete gene set of:

    • cells
    • viruses
    • bacteria
    • parasites

    More
    knowledge about potential enemies of human health will help researchers devise
    better ways to attack something harming the body.

    It’s
    becoming easier to read, or sequence, large amounts of DNA. Soon, it will be a
    relatively cheap and quick process to sequence any individual’s genome. Scientists
    are still working out the ethical and legal implications of genomics and
    genetic testing.

    This
    kind of sensitive information must be protected. Your genome is the most
    intensely personal information that exists. Still, knowledge about your genome helps
    prevent disease and makes treatment more effective.

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References:

  • A brief guide to genomics. (2015, August 27). Retrieved
    from https://www.genome.gov/18016863/a-brief-guide-to-genomics/
  • All about the Human Genome Project (HGP). (2015,
    October 1). Retrieved from https://www.genome.gov/10001772/all-about-the–human-genome-project-hgp/
  • BRCA1 and BRCA2: Cancer risk and genetic testing. (2015,
    April 1). Retrieved from http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
  • Chial, H. (2008). Rare genetic
    disorders: Learning about genetic disease through gene mapping, SNPs, and
    microarray data. Nature Education, 1(1), 192. Retrieved
    from http://www.nature.com/scitable/topicpage/rare-genetic-disorders-learning-about-genetic-disease-979
  • What is pharmacogenomics? (2016, May 17). Retrieved
    from https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics

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