Genomics versus Genetics: A Close Look

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  • The Future of Healthcare: Genomics

    The Future of Healthcare: Genomics

    Understanding the impact of genes on our health is at the cutting edge of healthcare research. In the past few decades, we’ve come far in our comprehension.

    In the middle of the 20th century, we started understanding that DNA is the molecule that carries the complete instruction set of how to grow and maintain a human. Now, we’re learning how complex relationships between genes and the environment can lead to increased risk of certain disease.

    Genomics is an important tool in this research, a step beyond a simple gene-by-gene 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. The word “gene” was coined in 1908, long before DNA was discovered. Some characteristics and disease risks are associated with a single gene or a single region of DNA. Genetics focuses on those individual genes and how they influence health and disease.

    Genes are made of several thousand base pairs, which are the combinations of the nucleic acids adenosine (A), thymine (T), guanine (G), and cytosine (C). Genes are “transcribed and translated” into proteins. These proteins are what perform all the body’s processes.

    Humans have upwards of 25,000 genes. Three billion base pairs make up our entire DNA, which are enough As, Ts, Gs, and Cs to fill 142 large phone books.

  • Genetics and Disease

    Genetics and Disease

    The study of genetics has resulted in the identification of thousands of genes that play a role in disease. Although some genes have subtle effects that aren’t fully understood, others can be 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 be affected by mutation during your lifespan, and this can lead to cancer. Genetics helps us understand how genes influence the growth of cancer cells. Genetics has also showed us how inherited genes, like the BRCA1 and BRCA2 genes, can predispose some people to developing cancer mutations.

  • The Big Picture

    The Big Picture

    There are thousands of single gene inherited diseases, but not all are well understood. Scientists may identify a section of DNA that occurs in those suffering from a disease. However, it takes time to understand exactly what that gene does, and what proteins the gene makes or controls. Knowing what a disease gene does allows us to develop better 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 studying not just single genes, but the entire set of genes – the genome.

  • Human Genome Project

    Human Genome Project

    The Human Genome Project was an ambitious project to create a “dictionary” of all the genes in a human. The Human Genome Project was completed in 2003 and a set of three billion base pairs for a generic human was made available. In 2005, a map of all the different variations seen in humans was published. Now, the search goes on to determine what all those variations mean.

    Having the entire genome of humans (and several other species) available allows researchers to study genes in new ways. It’s now more clear to understand how genes interact with each other, and with the environment.

  • Genomics Impact

    Genomics Impact

    Looking at the entire set of genes allows more subtle relationships to be understood. Instead of only understanding single-gene diseases like sickle cell anemia or cystic fibrosis, complex illnesses like heart disease, diabetes, and cancer can be studied. It becomes possible to run medical studies that look at the impact of environmental factors like diet, exercise, and chemical exposure on genes.

    Complex diseases are being studied with the new tools of genomics, including autism, breast, ovarian, and colorectal cancer, heart disease, and obesity. With information uncovered in genomic studies, scientists can identify people who are more likely to have certain diseases. Then, they can work to prevent the onset of disease in those people.

  • 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 medications cannot be used by everyone. Sometimes, differences in how the drug is metabolized in the body mean that only certain people can successfully take that drug. Other times, the actual affect of the drug is different in different individuals due to genetic differences.

    In the past, large differences in the safety and efficacy of a drug would prevent that drug from being approved for use. Some very effective drugs have not been brought to market because of this problem. But with the aid of genetic tests to determine if a drug can be used in a patient, they can be successfully used to treat disease and reduce adverse drug reactions.

  • The Future of Genomics

    The Future of Genomics

    Genomics is also looking at the complete gene set of cancer cells, viruses, bacteria, and parasites. With more knowledge about potential “enemies,” researchers can devise better means to attack something foreign hurting 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 the genome of any individual. The ethical and legal implications of genomics and genetic testing are still being worked out.

    This kind of sensitive information must be protected. Your genome is your complete “instruction book,” the most intensely personal information there is. But knowledge about your genome allows preventing disease to become more possible, and treating disease to become more effective.

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