• 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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