Aug 92 min read

Pharmacogenetics

Houston, TX

Medication curated to ones genomes — Pharmacogenomics

Pharmacogenetics, also known as pharmacogenomics, is the study of how genes influence a person's response to drugs. The word pharmacogenomics comes from the combination of the terms pharmacology—the study of one’s response to drugs and medicine—and genomics—the study of one’s genes and their functions. Pharmacogenomics is part of the precision medicine field, a treatment personalized on one’s genes, environment, and lifestyle. This helps the medical provider prescribe medicine with null or negligible side effects. Currently, pharmacogenomics is leveraged sparingly against diseases such as HIV (human immunodeficiency virus), certain cancers, depression, and heart disease, but researchers are hopeful that pharmacogenetics will become accessible in the near future.

The first recorded association with pharmacogenetics was in 510 BC. Pythagoras noted that the ingestion of fava beans proved to be fatal to selected individuals, but this wasn’t a well-supported finding. This was then discovered to depend on the genome of different individuals, especially the deficiency of G6PD.

The rules of heredity were established in 1866, causing pharmacogenetics research and knowledge to be set in motion. Throughout the 20th-century, there were many breakthroughs in the field, such as the discovery of glucose-6-phosphate deficiency and other inherited defects in metabolism, which affects a person’s response to medication. The Human Genome Project published the first sequenced human genome in 2003. Such a large collaboration helps scientists understand the effects of the human genome on psychological functions, particularly the response of pharmaceuticals.

One example of a patient case in pharmacogenomics was a 45-year-old female with hypertension, dyslipidemia, depression, and gastroesophageal reflux disease (GERD). She had a history of intolerance or inadequate response to multiple medications for her depression and GERD, requiring frequent medication changes. The patient learned about pharmacogenetic testing through a patient support group website and requested testing through her primary care physician (PCP). She specifically hoped that the testing results would help explain her unsuccessful treatment odyssey to date and point toward treatment most likely to improve her symptoms without causing side effects. The report found that the patient was a CYP2C19 ultrarapid metabolizer, which decreased the efficacy of the patient’s medications on depression and GERD. With this result, the PCP was able to make adjustments to the patient’s medication and improve her treatment.

health, medicine, genes, drugs, genetics, medication, pharmacology, genome, pharmacogenomics — Pharmacogenetics

Practicing pharmacogenomics has some challenges. Firstly, it’s expensive, and most common insurance policies do not cover it. Secondly, people can have limited access to genetic testing depending on where they live and their healthcare providers. The tests are time consuming and complicated, and multiple tests might be required to determine the best suited medication for a patient. Lastly, the extensive genetic information gathered from the patient could be used inappropriately if it ended in wrong hands. This made multiple headlines, most notably when the US government demanded that the site Ancestry.com hand over confidential DNA information, which Ancestry.com declined.

Overall, pharmacogenomics has its benefits and drawbacks. Among the benefits are that patients can get a curated and trustable treatment, while it is also expensive, time-consuming and vulnerable to data theft. Hopefully, in the future, pharmacogenetics is regularized and used worldwide in patient care for increased efficiency.