What Is Genomics?

By Michele C. Hollow @michelechollow
July 27, 2016

If you want to understand what makes you unique, just look at your genetic code. By doing so, doctors can make early diagnosis and better manage your health.

To understand genomics, we have to first grasp genetics. Still reading? It’s not as complicated as most of us believe.

Genetics, or the study of heredity, is what makes you different from everyone else. Your eyes may be brown and your best friend’s are blue. You’re unique because of your genes. However, all of us are 99.9 percent identical in our genetic makeup. Only 0.1 percent of our genetic makeup differs, and that holds important clues about the causes of diseases.


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Genetics studies the function and composition of a single gene; genomics looks at all of your genes and how they interact and function. That complete set, or DNA sequence, is called a genome. Genomics also includes the scientific study of a wide array of diseases.

It gives doctors many possibilities for therapies and treatments of complex illnesses. James Watson, PhD, an American molecular biologist, geneticist, and zoologist, best known as one of the discoverers of the structure of DNA, stated that the completed map of the human genome would serve as the official instruction book for human life. According to Watson and other geneticists, genomics provides scientists with vital information about genetic diseases and traits.

Watson and others believe that thanks to genomics, doctors will be able to cure diseases like Alzheimer’s, diabetes, and cancer by attacking the genetic roots of these diseases. Understanding how genes affect diseases leads to new treatments.

Genomics also looks at environmental factors and behaviors. Scientists are using genomics to unlock the reasons why someone who smokes their entire life and doesn’t exercise lives to age 90, while someone who eats a healthy diet and spends their spare time at the gym develops heart disease.

Barry Schuler, managing director for DFJ Growth and the former chair and CEO of America Online, asked at a TED Talk, “Why does a cell go from a normal cell to one with cancer? What is the code? What are the exact instructions that are making it do that? Once we know then you can go about the process and try to fix it and figure it out.”



Schuler said that once we’re able to understand how illness works at the genomic level, then we will be able to cure disease.

The benefits are huge. The experts say genomics will:

  • Improve diagnosis
  • Allow doctors to detect illness at an earlier stage
  • Know if someone has a predisposition to a specific illness
  • Let scientists create new medications based on their medical findings
  • Perfect gene therapy, a growing field of medicine where genes are introduced into the body to fight disease
  • Boost pharmacogenomics or gene therapy, which will enable scientists to create safe and effective drugs that are tailored to an individual’s genetic makeup

Looking ahead, the National Institutes of Health recently issued four new studies on the ethical, legal, and social impact of genomics. Their grants, which total close to $15 million over a four-year period:

  • Supports continued studies of infectious disease
  • Puts in place privacy risks with regards to protecting genomic information that could allow people to be identified
  • Backs research on how families communicate about prenatal and newborn screening regarding test results and risks
  • Focuses on how the use of genomic information in medical care could impact the health of American Indian and Alaska Native communities

The medical community is also hosting several conferences on genomic medicine. One such conference in California in 2017 aims to use genomic knowledge to change medicine so it will be more precise and individualized.

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March 31, 2020

Reviewed By:  

Christopher Nystuen, MD, MBA