CDISC Releases Groundbreaking Standard for Pharmacogenomics/Genetics

The Clinical Data Interchange Standards Consortium (CDISC) is pleased to announce a new global data standard for clinical research that will support the industry's transformation to Precision Medicine. The CDISC Study Data Tabulation Model Implementation Guide: Pharmacogenomics/Genetics (SDTMIG-PGx) aims to provide guidance on the implementation of SDTM for biospecimen and genetics-related data, including but not limited to: biospecimen collection and handling, quality data, genetic mutation, genotyping, gene expression, cytogenetics, viral genetics, and proteomics. This initial version 1.0 focuses primarily on genetic variation data for human and viral studies and gene expression and is freely available for use via the CDISC website.

Since the completion of the Human Genome Project in 2003, there has been a significant rise in the use of Pharmacogenomic data for both research and clinical care. The use of this new type of data, which can explain the relationship between genetic variations and drug response in patients, allows for the crucial opportunity to adjust therapies on a patient-by-patient basis, offering for the first time a glimpse at truly personalized and precise medicine, where treatments have been perfectly aligned for each patient's genetic make up.

"Pharmacogenomics is key to realizing the power of translational medicine's ability to match each patient with the most effective and safe treatment," stated Joyce Hernandez, leader of the CDISC Pharmacogenomics team and Clinical Standards and Clinical Data Standards Manager at Eliassen Group. Our CDISC team is very excited and proud to provide the research community with a standard that helps integrate pharmacogenomics with clinical data to gain insights on treatment options."

Due to increased industry interest and the subsequent Voluntary Genomic Data Submission (VGDS) program started by the FDA, CDISC has worked to develop a standard for representing PGx tabulation data suitable for submission to regulatory authorities. The CDISC PGx standard was developed in parallel with the HL7 Clinical Genomics Work Group, a joint effort between CDISC and HL7, and is harmonized with the CDISC BRIDG model, an ISO standard that now includes the Life Sciences Domain Analysis model of the National Cancer Institute and was balloted recently as BRIDG v4.0 through CDISC and HL7.

"The work to develop this standard has been ongoing for several years during a time of rapid change and maturation in the field of genomics," said Dr. Rebecca Kush, CDISC President. "This significant achievement offers a breakthrough in translational science, bridging discovery with clinical research."

The standard will be offered electronically, along with other global CDISC standards for research, through the Shared Health and Research Electronic Library (SHARE), which is now available to CDISC members and will be available to academic researchers in November 2015.

CDISC is a 501(c)(3) global non-profit charitable organization, with over 350 supporting member organizations from across the clinical research and healthcare arenas. Through the efforts of volunteers around the globe, CDISC catalyzes productive collaboration to develop industry-wide data standards enabling the harmonization of clinical data and streamlining research processes from protocol through analysis and reporting, including the use of electronic health records to facilitate the collection of high quality research data. The CDISC standards and innovations can significantly decrease the time and cost of medical research and improve quality, thus contributing to the faster development of safer and more effective medical products and a learning healthcare system. The CDISC Vision is to inform patient care and safety through higher quality medical research.