We’re back again with another round of PGx Articles. Pharmacogenomics is on the rise, and with the groundswell of support we’re seeing, it’s only a matter of time before we see more widespread support and implementation. Want to be ahead of the curve? Want to be that person who says “remember when I told you about pharmacogenetics years ago” to you friends, when drug sensitivity testing becomes mainstream, and a standard procedure for all patients? Well, you’ve come to the one stop shop for this information. Would you like to be on top of the news from the world of Pharmacogenomics and Precision Medicine, and some of the things we’re here at YouScript? Please follow our Facebook, Twitter, Pinterest, and LinkedIn pages.
“This is because Jason is one of the 10% of Caucasians with a genetic variation that reduces his ability to metabolize thiopurines, the drugs most commonly used to treat acute lymphoblastic leukaemia. Rather than having two high-activity copies of the TPMT gene that produces the enzyme responsible for metabolizing these drugs, Jason has only one.
Luckily for him, the doctors at St Jude Children’s Research Hospital in Memphis, Tennessee, knew that. When he was diagnosed with cancer, one of the first things his physicians did was take a sample of his blood to assess how he might respond to the drugs. As a result, Jason was given a lower dose of thiopurines than normal, and he tolerated the therapy without needing a break. He is now in remission.”
“In the past decade, the fields of pharmacogenetics and pharmacogenomics have grown exponentially and paralleled with that has been the burgeoning interest in implementing these discoveries to clinical practice. Important genetic associations that have been identified between variant genotypes and drug response phenotypes have prompted the FDA to revise drug labels to include relevant pharmacogenetic information and recommendations for certain drugs. However, despite the availability of pharmacogenetic testing from CLIA-approved laboratories, physician uptake of clinical pharmacogenetics has been underwhelming, in part due to a perceived lack of clinical utility, inadequate professional guidelines for pharmacogeneticbased management, and limited insurance reimbursement for testing. In the face of these challenges, selected pharmacogenetic examples have managed to achieve acceptance in clinical practice and a number of others are currently being evaluated by randomized controlled trials. The remarkable progress in genome sequencing technologies will undoubtedly identify additional important sequence variants and more sophisticated molecular models to predict drug responses, presumably in conjunction with personalized clinical variables.”
“Despite these obstacles, pharmacogenomics is unlikely to disappear and anesthesiologists would be wise to keep it on their radars. In the not too distant future, we would expect that clinical application software including anesthesia information systems will incorporate more pharmacogenomic data and decision support. As healthcare marketing specialist Daphne Swancutt stated it in KevinMD, “The future is in personalized medicine. Pharmacogenetics is on a wave that is only going to become stronger. Genetic testing and targeted therapies will change the way patients are treated, customizing their care and reducing the likelihood of ineffective—and possibly toxic—treatments. We have to get the ball rolling faster and support the kind of research that can make this happen. It’s good medicine.”
“The goal of precision medicine is simple: to offer individual patients exactly the right medical care at the right time, by taking their genes, lifestyle, and environment into account. However, making that vision a reality will require a significant investment of brainpower, technology, and capital.
The federal government thinks it can be done. The President’s Precision Medicine Initiative was created to the tune of $200 million in fiscal year 2016—a timely vote of confidence that comes on the heels of twelve years of declining government funding for medical research. Soon a million or more volunteers will be recruited to join a massive national cohort and share their genetic and health data with researchers at academic medical centers and community health organizations. Information gleaned from this unprecedented study has the potential to revolutionize the way we treat conditions ranging from diabetes to schizophrenia.”
“As a practical matter, personalized medicine will be realized through intermediaries that can help clinicians work in accordance with the latest genomic knowledge. One such intermediary is the Clinical Pharmacogenetics Implementation Consortium (CPIC), an organization working to streamline the process of translating genetic test results into gene-based prescription recommendations.
“The goal of the CPIC is to facilitate the process to apply pharmacogenetics to clinical practice by developing guidelines for clinicians,” states Kelly E. Caudle, Pharm.D., Ph.D., CPIC coordinator, St. Jude Children’s Research Hospital. “We do not tell clinicians if genetics testing should be ordered, but rather what to do with the information when it is available.” The CPIC strives to provide clear, concise information for providers, explaining how genetic data applies to their patients.”
“Pharmacogenetics to prevent maniac affective switching with treatment for bipolar disorder: CYP2D6” – By Almudena Sanchez-Martin et al.
“CYP2D6 is a major drug metabolizing enzyme and one of the most studied CYP enzymes. It is involved in the metabolism of approximately 25% of the most commonly used drugs. Regarding drugs used for the treatment of bipolar disorder, CYP2D6 contributes to approximately half of all the drugs prescribed including antidepressants and antipsychotics. Also, there is evidence from animal models indicating that CYP2D6 is involved in the biosynthesis of dopamine and 5-HT. Of note, CYP2D6 may be inhibited by a number of drugs that may further complicate complex medication schedules. For all these considerations and their involvement in clinical practice, it has been one of the most studied enzymes.”