Very Important Pharmacogene: RYR1

The new Very Important Pharmacogene (VIP) Summary of RYR1 describes important pharmacogenetic associations as well as disease associations with variants in RYR1. RYR1 encodes a single sub-unit of the ryanodine receptor isoform 1 (RYR1), the predominant ryanodine receptor isoform of skeletal muscle. RYR1 is a calcium channel of the sarcoplasmic reticulum of muscle cells (and endoplasmic reticulum in non-muscle cells) and is critical to excitation-contraction coupling, the process by which an electrical signal is translated into a muscle contraction. RYR1 is the primary locus for malignant hyperthermia susceptibility (MHS), a potentially fatal pharmacogenetic condition triggered by volatile anesthetics, alone or in combination with a depolarizing neuromuscular blocking agent, such as succinylcholine. There is limited evidence that variants in RYR1 may also be associated with statin-induced myopathies. The VIP summary also discusses how advances in sequencing have improved MHS diagnoses in otherwise healthy individuals. 

Read the VIP summary below:

https://www.pharmgkb.org/gene/PA34896

Precision Medicine Initiative Working Group Releases Report

The Precision Medicine Initiative (PMI) Working Group of the Advisory Committee to the (NIH) Director (ACD) has recently presented a detailed report to the ACD with recommendations on how to a build and manage a diverse research cohort of 1 million people for the PMI. The report discusses a framework for policies affecting patient recruitment, specimen collection and storage, technology infrastructure, operations, privacy, security and sharing of data between researchers and cohort participants. A notable recommendation is the use of arrays that prioritize the inclusion of known pharmacogenetic variants.  The report also recommends including anyone who is willing to participate in the PMI, and emphasizes the importance of having a diverse cohort that is representative of the general population of the United States.The ACD unanimously agreed to accept the PMI Working Group’s report, and according to Dr. Russ Altman, a member of the ACD, "Direct participation is clearly the alternative in this age of consumer empowerment.” 

Read more about the PMI Working Group’s report, including an interview with Dr. Russ Altman with GenomeWeb below:

https://www.genomeweb.com/sequencing-technology/precision-medicine-initiative-should-enroll-anyone-us-willing-share-data

Electronic Medical Records and Genomics (eMERGE) Network to receive more than $48 million from the National Institutes of Health

NIH grants totaling more than $48 million dollars have been awarded to support phase III of the eMERGE network program. eMERGE is a consortium of research institutions focused on linking genome-wide genotyping or sequencing data with patient electronic medical records (EMRs) in order to improve patient care. eMERGE PGx, a partnership between eMERGE and the Pharmacogenomics Research Network (PGRN) has successfully deployed a next-generation sequencing platform called PGRN-seq to sequence very important pharmacogenes in patients across eMERGE sites with a goal of integrating pharmacogenetic genotypes into electronic health records, as well as the associated clinical decision support. Among the awardees of the NIH grants were researchers at Vanderbilt University, an eMERGE site, led by Dan Roden and Joshua Denny. The group will investigate the impact of rare variants on health and drug response as well as expand the Pharmacogenomics Research for Enhanced Decision in Care and Treatment (PREDICT) pipeline. 

Read more about the NIH awards here:

https://www.genomeweb.com/sequencing-technology/nih-awards-more-48m-emerge-project-correlate-genomic-data-health-records

Read more about the eMERGE Network here:

https://emerge.mc.vanderbilt.edu

Read more about eMERGE PGx here:

https://emerge.mc.vanderbilt.edu/projects/emerge-pgx/

PharmGKB Pathway Peginterferon-α published in Pharmacogenetics and Genomics

The PharmGKB summary:  peginterferon-α pathway has been published in the Pharmacogenetics and Genomics Journal. Peginterferon-α (pegylated interferon-α or PEG-IFN-α) is an antiviral drug used to treat chronic hepatitis C virus (HCV) infection. The PharmGKB review summarizes the pharmacokinetics and pharmacodynamics of peginterferon-α and also discusses genetic variations around the IFNL3 locus (formerly known as IL28B) affecting the viral clearance and clinical responses to peginterferon-α based therapy.

  

Find out more...

View interactive Peginterferon-α pathway on PharmGKB.

Read our new publication:

PharmGKB summary: Peginterferon-α pathway

Pharmacogenet Genomics. 2015 Sep; 25(9):465-74

Shuldiner SR, Gong L, Muir AJ, Altman RB, Klein TE. 

PMID: 26111151

View all pathways on PharmGKB.

The National Institutes of Health Awards $14 million to Stanford Researchers for Precision Medicine Projects

The National Institute for General Medical Sciences (NIGMS) has awarded a $10 million grant to Dr. Teri Klein and Dr. Russ Altman to continue and expand the Pharmacogenomics Knowledgebase (PharmGKB), the premier resource for curated knowledge about the impact of human genetic variation on drug responses. In addition, Dr. Klein and Dr. Mary Relling, PharmD, Chair of Pharmaceutical Sciences at St. Jude Children’s Hospital were also awarded a $4 million grant from the NIGMS and National Human Genome Research Institute (NHGRI) to fund the Clinical Pharmacogenetics Implementation Consortium (CPIC). CPIC publishes guidelines that enable the translation of genetic tests into actionable prescribing decisions for specific drugs.

Read the press release from the Stanford Medicine News Center below:

http://med.stanford.edu/news/all-news/2015/08/researchers-awarded-14-million-for-two-precision-health-projects.html

Remembering PharmGKB Alum Steve Lin

The PharmGKB team is deeply saddened by news of the recent passing of Steve Lin.  Steve was one of the first developers at PharmGKB and he helped to create the initial version of the resource.  He will be greatly missed.  Our sincere condolences go to his family in their time of sorrow.

Medication Safety Code Initiative Looking for Survey Participants

The Medication Safety Code (MSC) Initiative (http://safety-code.org/) aims to improve the portability of pharmacogenetic data by enabling patients to carry information about their pharmacogenetic test results with them so it is available at the point of care.  The MSC system utilizes a QR (2D) barcode that can be decoded using a standard mobile device with access to the internet.

The MSC is conducting a survey (http://goo.gl/forms/gLPf2iPEyf) to help identify the essential pieces of information that need to be included in the system.  We estimate that it will take 10-15 minutes to complete the survey.  The first 10 respondents will receive a $17 / 15€ Amazon gift card.

Please consider responding to this survey by July 19th, 2015.  All information will be kept strictly confidential  and used only for the purposes of research for this project.  If you have any questions or if you experience technical difficulties accessing or submitting the survey please contact kathrin.blagec@meduniwien.ac.at.