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Category Archives: Pharmacogenomics

List of life sciences – Wikipedia

The life sciences or biological sciences comprise the branches of science that involve the scientific study of life and organisms such as microorganisms, plants, and animals including human beings.

Life science is one of the two major branches of natural science, the other being physical science, which is concerned with non-living matter.

By definition, biology is the natural science that studies life and living organisms, with the other life sciences being its sub-disciplines.

Some life sciences focus on a specific type of organism. For example, zoology is the study of animals, while botany is the study of plants. Other life sciences focus on aspects common to all or many life forms, such as anatomy and genetics. Some focus on the micro scale (e.g. molecular biology, biochemistry) other on larger scales (e.g. cytology, immunology, ethology, ecology). Another major, branch of life sciences involves understanding the mind neuroscience.

Life sciences discoveries are helpful in improving the quality and standard of life, and have applications in health, agriculture, medicine, and the pharmaceutical and food science industries.

Biology burst and eclectic field, composed of many branches and sub-disciplines. However, despite the complexity and the broad scope of the science, there are certain general and unifying concepts within it that govern all study and research, consolidating it into a single, coherent field. Here are some of biology's major branches:

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Pharmacogenomics – 1st Edition – Elsevier


List of Contributors


Chapter 1. Principles of Pharmacogenomics: Pharmacokinetic, Pharmacodynamic, and Clinical Implications



Cytochrome P-450 Enzymes

Non-CYP-450 Drug Metabolizing Enzymes

Polymorphisms in Drug Transporter Genes

Drug Target Genes


Questions for Discussion


Chapter 2. Translating Pharmacogenomic Research to Therapeutic Potentials



Implementation of Biomarkers in Clinical Practice

Incorporating Pharmacogenomics intoDrugDevelopment


Questions for Discussion


Chapter 3. Governmental and Academic Effortsto Advance the Field ofPharmacogenomics



The Role of the National Institutes of Health

The Role of the Food and Drug Administration and OtherInternational Government Agencies

Activities of Non-U.S. Agencies


Questions for Discussion


Chapter 4. Pharmacogenomics in Cancer Therapeutics



Role of Oncology Biomarkers

Concepts in Targeted Cancer Therapy

Oncology in the Postgenomic Era

Challenges in Drug Development and Cancer Trials

Seeking Pharmacogenomic Value

Questions for Discussion


Chapter 4A. A Look to the Future: CancerEpigenetics

Learning Objectives


Histone Modification

DNA Methylation

Noncoding RNA (ncRNA)


Questions for Discussion


Chapter 5. Pharmacogenetics in Cardiovascular Diseases



Pharmacogenomics of Antiplatelet Agents

Warfarin Pharmacogenomics

Other Genetic Contributions to Warfarin Dose Variability and Response

Trials and Tribulations of Pharmacogenomics of Agents Used to Treat Dyslipidemia

Pharmacogenomic Potential in Heart Failure

Genetic Influences of Drug-Induced Arrhythmia


Discussion Points

Discussion Questions


Chapter 5A. A Look to the Future: Cardiovascular Pharmacoepigenetics

Learning objectives





Questions for Discussion


Chapter 6. Pharmacogenomics in Psychiatric Disorders



Polymorphisms in Proteins that Affect Drug Concentrations

Polymorphisms in Proteins that Mediate Drug Response

Application of Pharmacogenomics in Psychiatry


Questions for Discussion


Chapter 6A. A Look to the Future: Epigenetics in Psychiatric Disorders and Treatment


Nature and Nurture Both Contribute to the Etiologies of Psychiatric Disorders

Epigenetic Processes Are Likely to Contribute to the Biochemical Basis of Nurture

Epigenetic Dysfunction Has Been Linked to Psychiatric and Neurological Disorders

Epigenetic Processes May Be Critical to Treatment Response in Psychiatric Disorders

Epigenetic Variation of Genes Regulating Pharmacokinetic Processes Is Likely to Influence Treatment Response

Epigenetic Modifications of Drug Transporters

Epigenetics and Adverse Drug Reactions

Limitations of Epigenetic Biomarkers in Psychiatry


Questions for Discussion


Chapter 7. The Role of Pharmacogenomics in Diabetes, HIV Infection, and Pain Management



Diabetes Overview

Type 2 Diabetes Pharmacogenomics

Challenges and Opportunities of Pharmacogenomics in Diabetes

Pharmacogenomics and HIV

Pharmacogenomics and Pain Control

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Pharmacogenomics –

General Description, Overview, and Opportunities

Pharmacogenomics has increasingly become an area of interest to clinicians because of the potential to tailor pharmacotherapy based on genetic variations in patients. Pharmacogenomics is one of the key aspects of personalized medicine, focusing on how an individual's DNA affects the way they respond to medications. All individuals have different genetic make-up so they respond differently to the same medication. Based on this insight, pharmacogenomics allows customized treatment for a wide range of health problems including; cardiovascular disease, Alzheimer's disease, cancer, HIV/AIDS, and asthma. Often, drug choice and dosage require experimentation (trial and error) in order to find the best treatment option. With pharmacogenomics testing, the need for this experimentation is decreased. As a result, the process becomes faster and more cost-effective and the possibility of adverse events caused by the wrong drug choice or dosage is significantly reduced.

One avenue for implementing pharmacogenomic is through medication therapy management (MTM), where pharmacists assess and evaluate a patient's complete medication therapy regimen. By gathering key pieces of information, e.g. which medications and supplements a patient is currently taking, pharmacists can assess current treatment and suggest alternative therapies.

As medication experts and POC service providers, pharmacists can educate physicians and patients and perform the actual sample collection to be utilized for genetic testing. The broad application of pharmacogenomics to personalized medicine will improve patient outcomes and lower healthcare costs.

Test Features

Pharmacies require a lab partner to provide clinically relevant data and interpret results for physicians. Most tests screens all well-established pharmacogenomics genes in a single, cost-effective test. Results are delivered quickly via intuitive, clinically relevant, medically actionable report. The data provides lifetime utility of data, thereby decreasing the need for future testing.

Community pharmacists routinely perform point of care services and can assist patients by:

Performing a buccal swab in minutes

Send the collected DNA to the lab

Interpret results and discuss with physicians

Contact the patient to explain the results and any changes in therapy


Pharmacist Resources and Training

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PGRN-Hub will encourage and support participation of all investigators with an interest in precision medicine through establishment of an efficient and innovative infrastructure that promotes scientific exchange through the following aims:

Aim 1.Provide support and infrastructure for PGRN meetings, conference calls and webinars that use information technologies and novel meeting activities to enhance communication and scientific exchange. In particular, we will provide logistical and technical support for (a) at least two PGRN annual meetings at designated PGRN sites and (b) regular conference calls and webinars.

Aim 2.Establish a PGRN Virtual Home to enhance and promote communications among PGRN members and with scientific and public audiences while attracting new membership. In particular, we will (a) develop and promote a web interface to unify, organize, and display all PGRN resources and activities at; (b) host lectures and display professional-quality presentations that highlight up-to-date PGRN accomplishments; and (c) establish an intranet to handle PGRN meeting logistics and to support PGRN webinars and internal collaborations.

Aim 3.Promote a collaborative and synergistic network by (a) incorporating networking opportunities into our meetings; (b) soliciting open proposals to develop and incubate new ideas for collaborations; and (c) providing access to information from key resources that will support the conduct of the proposed collaborative projects including PGRN Enabling Resources such as RPGEH.

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Intermountain lab expands precision medicine with …

Intermountain Precision Genomics Core Laboratory announced today it is expanding RxMatch. The pharmacogenomics service the study of how genes affect a patients response to medication will be made available to all Intermountain Healthcare providers.

The growth of the effort is indicative of how precision medicine programs across the world are taking off like never before, fueled by the adoption of early diagnosis, an increasing number of adverse drug reaction cases, high prevalence of chronic diseaseand advancements in genetic science.

The global precision medicine market is expected to reach $141.7 billion by 2026, according to a recent report by BIS Research.

The Intermountain lab launched RxMatch as an antidepressant panel in September 2017, the RxMatch Comprehensive Panel introduced today expands the gene targets from 36 to 97.

The panel includes opioids, statins, immune-suppressants, antidepressants and many more. Intermountain will integrate the resulting genomic medicine into clinical care while it also manages the information obtained through genomic sequencing, according to Intermountain.

The objective of this project is to provide the most comprehensive and evidence-based information to the physician," David Loughmiller, laboratory manager for Intermountain Precision Genomics, said in a statement. The result, Loughmiller noted, is decreasing the amount of time and money spent to achieve the correct medication.

The results are used to guide proper dosage based on a patients specific DNA genotype, Tom Neuwerth, clinical technology consultant for Intermountain Precision Genomics Lab, added. Small genetic variations impact how a patient metabolizes and responds to drugs. Our test helps ordering providers prescribe the right medication, at the right dose, at the right time.

Patients supply DNA samples using cheek swabs collected by their physicians. Once samples are received, the lab makes comprehensive reports available within a week.

Intermountains announcement comes just three days ahead of the HIMSS Precision Medicine Summit, slated for May 18-19, 2018 in the nations capital.

Twitter: @Bernie_HITNEmail the writer:

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April 16: Pharmacogenomics – National Human Genome …

PharmacogenomicsChoosing the right medication at the right dose for each patient

April 16, 2018

Did you know ... that the sequence of your genome can determine how you respond to certain medications?

Understanding pharmacogenomics, or tailoring a person's medications based on their genome, would not be possible without sequencing the genomes of many people and comparing their responses to medicines.

Oneof the most important uses for DNA sequencing is not to just sequence one human genome - but rather to sequence many human genomes to understand how genomic differences relate to different traits. Some such traits reflect physical characteristics (like eye color), whereas others can be used to help in the clinical care of patients. Scientists in the field of pharmacogenomics study how specific variants in your genome sequence influence your response to medications.

In order for our bodies to use some medicines properly, the cells in our bodies must make a few chemical changes that convert them into an active form, just like we do when we eat food. Then, these active forms of the medicine must get to the right places in the body or inside cells to do the job that we want them to do. If we want to make sure this happens, it makes sense that we would target our bodies' pathways involved in changing the medicine's form or in getting medicines to the right places. For example, you probably know someone who takes an antidepressant. Many of these medicines get to the right places by interacting with a protein called ABCB1,which works like a traffic cop on the outside of your cells.

Given ABCB1's important role in controlling traffic, you might imagine that if someone has a genomic variant that changes the shape or function of their ABCB1 protein, they might have a different response than usual to any number of medicines. We now know that is the case for some antidepressants, as well as other medications like statins for cholesterol and certain chemotherapy medicines. As a result, there are at least 18 pharmacogenomic tests for variants in ABCB1 listed in the NIH's Genetic Test Registry, with suggestions that you be tested for these variants to help determine the correct dose for certain medications.

Video courtesy of Mayo Clinic

Healthcare professionals and researchers are constantly seeking both to optimize medical treatments and to avoid adverse (or negative) reactions to treatments, which are estimated to affect between 7 percentand 14 percentof hospitalized patients. This makes adverse reactions a large cause of added days spent in a hospital, and the fourth leading cause of death in the United States.

One scary example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called "scalded skin syndrome." It can be caused by infections, but also by very common medications like ibuprofen, anti-seizure medicines, or antibiotics. Patients may go from taking two pain pills to ending up in the hospital burn unit fighting for their lives if SJS progresses to a worse condition called toxic epidermal necrolysis (TEN). TEN is diagnosed when patients have shed at least one-third of the skin off of their bodies. Needless to say, anything we can do to prevent this allergic reaction is vitally important.

In Taiwan, married scientists Wen-Hung Chung (a physician) and Shuen-Iu Hung (an immunologist) noticed that SJS/TEN was much more common in patients taking carbamazepine, used to treat epilepsy and seizures, or allopurinol, used to treat gout. They showed that this was due to genomic variants in the HLA-B gene. Not surprisingly, this gene helps control the immune response. As a result of their work, the country of Thailand has implemented genomic testing before these medications are prescribed. The results of this "pharmacogenomic test" are used to decide whether it is safe to give a specific patient certain medicines, like carbamazepine or allopurinol. Thailand's government even covers the cost of this testing, and the frequency of SJS/TEN has been drastically reduced. We have since learned that different ancestries are associated with different HLA-B genomic variants, so countries may need to take different approaches to monitor which medications are most likely to be linked to SJS/TEN.

Video courtesy of Mayo Clinic

Understanding pharmacogenomics would not be possible without sequencing the genomes of many people and comparing them, and then comparing their response to medicines. But we have also learned that a person's genome sequence is not everything when it comes to medication responses. The human body is a very complicated machine, and the instructions written in our DNA are just part of the process.

There are some cases, as with the breast cancer treatment tamoxifen, where a small study showed that there might be a relationship between someone's response to the medicine and a variant in the CYP2D6 gene. However, this finding did not appear to be true in a larger study that involved many more people. That's why at this time, the U.S. Food and Drug Administration (FDA) labeling for tamoxifen does not recommend CYP2D6 pharmacogenomic testing, but the issue is still being reviewed as more research is conducted.

Another gene in the same CYP family, called CYP2C19, has variations which affect how your body can use clopidogrel (more commonly known as Plavix). This medication is a "blood thinner" which helps prevent blood clots, and thus reduces your risk of strokes or some heart attacks. If your CYP2C19 protein is not working properly due to a mutation in the gene, then you will not be able to process clopidogrel, and you need either a different dose or a different medication. As it turns out, these variants in CYP2C19 are also more common in those with Asian ancestry. Although testing for variants in this gene is also not routinely recommended, you may wish to speak with your healthcare provider about the test if you are given a prescription for clopidogrel, particularly if you have East Asian family members.

As the field of pharmacogenomics develops, more and more clinical trials will test for interactions between our genomes and the medicines we take. If you are interested in participating in such trials, you can search the registry and look for ongoing studies with your condition. If you are curious whether any of your medications are known to be associated with pharmacogenomic information, check out the Pharmacogenomics Knowledge Database and speak with your medical care team. And, if you'd like to be part of a national effort along with one million other people that will involve pharmacogenomics research, look into the National Institute of Health's All of Us program.

Posted: April 16, 2018

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