Pharmacogenomics Clinical Annotation Tool (PharmCAT) tutorial videos are now available on the PharmGKB YouTube channel. The tutorial videos provide clear, step-by-step instructions for running PharmCAT from command lines. By providing genotype-based drug prescribing recommendations, we hope to engage the wider genomics community and create a standard for the use in precision medicine.
Future videos will cover how to supply external pharmacogenomic calls to PharmCAT, how to use ‘Research’ modes, how to use the PharmCAT functionalities for biobank-scale analyses, and more.
We are pleased to announce the release of our PharmGKB walkthroughs and tutorial videos on YouTube. Users can now view detailed video walkthroughs of each of the main annotation types on PharmGKB as well as a longer video combining resources from across the site. We have also produced a series of tutorial videos to help users learn more about key concepts and issues in pharmacogenomics. These videos range from an introduction to the field to an explanation of the star allele nomenclature system for haplotypes. The videos are freely available on the PharmGKB YouTube channel. Links can also be found on our Educational Resources page.
In 2018, Stanford Medicine launched a pilot project, Humanwide, using precision health approaches to predict, prevent and treat disease based on the individual patient in primary care. Over the past year, the Humanwide project provided care to a diverse group of 50 patients based on their individual factors, from lifestyle to DNA data. In addition to disease screening, the patients also underwent pharmacogenomic screening and patients with unusual drug responses received consultation from the Stanford Pharmacogenomics Clinic, led by Dr. Russ Altman.
In this video, Dr. Altman gives an introduction to pharmacogenomics and explains to the patients how their genetic information can be used to guide prescribing decisions to lower the side effects and improve the efficacy of the drugs they are using now and in the future.
“If we can bring pharmacogenomics to the frontlines of medicine, I think we have a better chance of managing health instead of disease," said Dr. Altman. "This is where Precision Health is a powerful idea, where we’re trying to keep people out of the system by giving them the minimum medication at the right time and not having their disease progress, get worse and become chronic diseases”.
To learn more about Stanford Pharmacogenomics Clinic:
A new resource is available on PharmGKB to help researchers and clinicians more easily and quickly understand CPIC recommendations and how to find supporting information on the PharmGKB website. Short ~5 minute videos describe the role of the gene(s) and the impact of genetic variation on drug response, provide an overview of the genotype-phenotype terminology and classification, and summarize the CPIC recommendations for changing drug dose or drug choice based on patient diplotypes. By distilling information from the guidelines themselves and by integrating the illustrated pathways and extended dosing guidelines that are available on the PharmGKB website, these videos communicate the important relationships between each gene/drug combination. We hope the videos will help CPIC guidelines reach new audiences by providing information in a new format and that, ultimately, they will increase the use of pharmacogenetics in the clinic.
The first videos have been released and can be found on the CPIC guideline pages for codeine, clopidogrel, simvastatin, phenytoin, carbamazepine, allopurinol, and abacavir on the PharmGKB website. Over the coming weeks, summary videos describing each of the CPIC guidelines will be available through the PharmGKB YouTube channel and on each CPIC guideline page on the PharmGKB website. We encourage you to watch and share them.
Dr. Katrin Sangkuhl is a scientific curator at PharmGKB, the online pharmacogenomics knowledge base (www.pharmgkb.org). In this tutorial, Dr. Sangkuhl gives an introduction to the topic of pharmacogenomics - the impact of genetics on drug response. She reviews several pharmacogenetics examples, including codeine/CYP2D6 and clopidogrel/CYP2C19, and provides an overview of the PharmGKB website. The tutorial ends with a description of the clinical relevance of pharmacogenomics testing.
In this interview for The Aids Reader, Micheal Martin, PharmD, addresses why doctors may be reluctant to prescribe abacavir to HIV patients due to risk of hypersensitivity reactions, and explains how the genotype-based dosing guidelines recently published by CPIC can help guide therapy and avoid giving the drug to those who are at risk.
Clinicalpharmacogeneticsimplementationconsortiumguidelines for HLA-Bgenotype and abacavirdosing. Martin MA, Klein TE, Dong BJ, Pirmohamed M, Haas DW, Kroetz DL. Clin Pharmacol Ther. 2012 Apr;91(4):734-8.
Protocol investigators and family members of patients from St Jude's Family Advisory Council discuss the PG4KDS pharmacogenetics implementation project in a video- we have added a link to the video on our website under the Outreach tab: "PGEN4Kids Study Information".
In the video, Mary Relling provides an introduction to pharmacogenetics and the PG4KDS project, and then the group discuss important issues including:
can genetic variants that give information about drug response be separated from those that give information about disease risk?
why are genetic tests different from other clinical tests?
the advantages and disadvantages of placing genetic results in the medical record
View more articles and videos about pharmacogenomics under our Outreach tab.
