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What Is Genomic Medicine?

You can customize and personalize pretty much any product nowadays. What if you were able to personalize your medications? 

Genomic medicine is a way to customize medical care to your body’s unique genetic makeup. Although greater than 99% of a DNA sequence is identical from person to person, the last 1% explains how everyone responds to stress, the environment, disease, and treatment differently. 

These small variations in genes make some people more susceptible to a specific disease than other people. 

Genomic medicine involves using genomic information about an individual as part of their care. The Human Genome Project started to advance our understanding of biology and disease, intending to improve health. 

Precision Medicine 

The National Academy of Sciences adopted the phrase ‘precision medicine’ that utilizes genomics and environmental exposure to guide individual diagnosis more accurately. 

The goal of precision medicine is to change the one-size-fits-all approach to medicine and consider additional factors that could affect an individual’s disease. Utilizing targeted prevention or treatment will help specific individuals stay healthy or get better instead of relying on approaches that are the same for everyone. 

CRISPR is a technology that uses a protein called Cas9 to cut DNA and can rewrite the genetic code. The idea is that CRISPR can cut out and replace the “bad” DNA with “good” DNA. As a result, this technology could potentially provide a cure to several cancers, leukemia, HIV, sickle-cell anemia, and many other diseases once perfected. 

Gene therapy is used as a treatment to cure a rare condition or disease. Gene therapy takes healthy foreign genetic material and inserts it into a person’s cells to correct the genetic cause of the disease. This approach aims to provide a one-shot cure instead of only treating symptoms of a genetic disease. 

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Genetic Testing 

Genetic tests are increasing in popularity. Genetic testing can help confirm or rule out a suspected genetic condition. It can also help determine if a person will be passing on a genetic disorder to their children. 

There are two classes of genetic testing available: 

  1. Clinical 
  2. Direct to consumer 

Clinical testing is done by trained medical professionals that help patients interpret their results. This is helpful because results can easily be misinterpreted. 

Direct to consumer testing allows testing to be completed at home. Many people can order a test kit directly to their doorstep and get the results reviewed privately, but the Federal Trade Commission consumer alert warns that some of these tests lack scientific validity and may not provide accurate results. 

Pharmacogenomics 

Pharmacogenomics combines genomics and medicine. The goal of pharmacogenomics is to develop effective, safe medication and doses that are tailored to a person’s genetic makeup. 

Genetics also play a role in how a person responds to medication. Different people can have different versions of the same gene, which produces variations in proteins. Specific proteins affect how drugs work, and variations in protein affect how people will respond to the drug. 

Knowing and understanding the variation of the genetic makeup will help providers select drugs and doses that best suit the individual patient. 

Pharmacogenomic information is now included on the labels of approximately 200 medications. This can play an essential role in identifying responders and non-responders to medications, avoiding side effects, and optimizing drug doses. 

Ethics of Precision Medicine 

Ethics is a significant issue with genomic medicine. 

Gene editing allows scientists to change an organism’s DNA by adding, removing, or altering genetic material in the genome. 

The ethical issues of gene editing arise when changes are introduced to egg and sperm cells. Changes made in these cells can be passed to future generations. There are concerns about allowing technology the ability to enhance standard human traits like height or intelligence. 

Additional concerns include: 

  • Creation of “designer babies” 
  • Permanent or hereditary changes that cannot be reversed 
  • Unknown consequences of removing or editing a DNA sequence 

The United States has currently banned the genetic alteration of DNA in human embryos used for implantation. 

Ethical concerns are present for genetic testing as well. The major issue is security and privacy. Genetic discrimination may potentially happen with employers or insurance companies. 

In an effort to protect people against genetic discrimination, the Genetic Information Nondiscrimination Act (GINA) was put into place. GINA prohibits health insurance providers from using genetic information to make decisions about insurance eligibility or coverage. GINA also prohibits employers from using genetic information when making decisions about hiring, promotions, or terms of employment. 

Bottom Line 

Genomic medicine has the potential to alter the standard of treatment and provide individualized treatment. Although there are challenges and cautionary warnings regarding the ethics of genomic medicine, it can provide a cure for rare diseases and ultimately improve health care outcomes. 

References:

Auffray, C., Caulfield, T., Khoury, M.J. et al. Genome Medicine: past, present and future. Genome Med 3, 6 (2011). https://doi.org/10.1186/gm220

FDA. Table of Pharmacogenomic Biomarkers in Drug Labeling. https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-druglabeling?elq=80859ee4d24747fbb7dbbfb373be63ba&elqCampaignId=6008&elqTrackId=c5945f731f92452dac6f4b713852545c&elqaid=7346&elqat=1. Published 2020. Accessed 30 August 2020.

National Human Genome Research Institute. Genomics and Medicine. https://www.genome.gov/health/Genomics-and-Medicine#:~:text=Genomic%20medicine%20is%20an%20emerging,implications%20of%20that%20clinical%20use. Published 2020. Accessed 30 August 2020.

Roth SC. What is genomic medicine?. J Med Libr Assoc. 2019;107(3):442-448. doi:10.5195/jmla.2019.604

U.S. National Library of Medicine. What is genetic discrimination? https://ghr.nlm.nih.gov/primer/testing/discrimination. Published 2020. Accessed 30 August 2020.

U.S. National Library of Medicine. What is pharmacogenomics? https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics#:~:text=Pharmacogenomics%20is%20the%20study%20of,to%20a%20person's%20genetic%20makeup. Published 2020. Accessed 30 August 2020.

Published September 7th, 2020 by Dr. Miriam Opara, PharmD
Fact Checked by Chris Riley

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