I-PWG Biomarker Brochure

I-PWG Biomarker Brochure

Pharmacogenomics Resources

The information available in the Industry Pharmacogenomics Working Group (I-PWG) resource “Understanding the Intent and Public Health Benefits of Exploratory Biomarker and Pharmacogenomic Research” was obtained from information in the following resources. We hope you find these references helpful at better understanding this topic. If you are interested in learning more about genetics or PGx specifically, you may consult the followingresources on the web for more information. As these are web resources please keep in mind that URL’s may change over time.

For information on Genetics and PGx:

PharmGKB (www.pharmgkb.org)

A comprehensive resource that curates knowledge about the impact of genetic variation on drug response for clinicians and researchers and is managed at Stanford University

Genetics Home Reference (ghr.nlm.nih.gov)

This site provides consumer-friendly information about the effects of genetic variations on human health

American Medical Association

(http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/education-research.page)

The AMA offers a number of free education and research references that pertain to genetics and molecular medicine.

Human Genome Project Information

(http://web.ornl.gov/sci/techresources/

Human_Genome/education/index.shtml)

This site provides a wealth of genetics information in various formats (publications, teaching aids, videos, webcasts, etc.). This includes a quick “Genetics 101” lesson that takes you from the genome to the proteome.

gGenetics and Social Science: Expanding Transdisciplinary Research (www.nchpeg.org/bssr/)

This free, web-based course is aimed at giving scientists the skills necessary to assess genetics research for validity and utility as well as providing users with the ability to conceive of progressive but feasible studies.

National Coalition for Health Professional Education in Genetics (http://www.nchpeg.org)

NCHPEG is committed to a national effort to a national effort to promote health professional education and access to information about advances in human genetics.

Personalized Medicine Coalition (http://www.personalizedmedicinecoalition.org)

The Personalized Medicine Coalition (PMC), representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services, and products to benefit patients and the health system. Believing that paradigm shifts, especially in medicine, do not happen just because the science and new technologies suggest they should, PMC supports investment in and adoption of personalized medicine through education, advocacy, and evidence development.

The following resources contain information provided in the document entitled “Understanding the Intent and Public Health Benefits of Exploratory Biomarker and Pharmacogenomic Research”:

  1. ICH E15 - Definitions for Genomic Biomarkers, Pharmacogenomics, Pharmacogenetics, Genomic Data and Sample Coding Categories. Finalized in November 2007 and adopted by FDA in April 2008. (Accessed at: http://www.fda.gov/OHRMS/DOCKETS/98fr/FDA-2008-D-0199-gdl.pdfand at: http://www.ich.org/fileadmin/Public_Web_Site/ICH_Products/Guidelines/Efficacy/E15/Step4/E15_Guideline.pdf)
  2. Iyer L, King CD, Green MD, et al. Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltravsferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J Clin Invest 1998; 101(4): 847-54.
  3. Mette L, Mitropoulos K, Vozikis A, Patrinos GP. Pharmacogenomics and public health: implementing ‘populationalized’ medicine. Pharmacogenomics 2012; 13(7): 803-13.
  4. Morimoto T, Sakuma M, Matsui K et al. Incidence of Adverse Drug Events and Medication Errors in Japan: the JADE Study. Journal of General Internal Medicine 2011; 26(2): 148-53.
  5. Maliepaard M, Nofziger C, Papaluca M et al. Pharmacogenetics in the evaluation of new drugs: a multiregional regulatory perspective. Nature Reviews. Drug Discovery 2013; 12(2): 103-15.
  6. Yasuda SU, Zhang L, Huang SM. The role of ethnicity in variability in response to drugs: focus on clinical pharmacology studies. Clinical Pharmacology and Therapeutics 2008; 84(3): 417-23.
  7. Ozeki T, Mushiroda T, Yowang A, et al. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous drug reactions in Japanese population. Human Molecular Genetics 2011; 20(5): 1034-41.
  8. Otsubo Y, Ashahina Y, Noguchi A, et al. Similarities and differences between US and Japan as to pharmacogenomics biomarker information in drug labels. Drug Metabolism and Pharmacokinetics 2012: 27(1): 142-9.
  9. Franc MA, Warner AW, Cohen N et al. Current Practices for DNA Sample Collection and Storage in the Pharmaceutical Industry, and Potential Areas for Harmonization: perspective of the I-PWG. Clinical Pharmacology and Therapeutics 2011: 89(4): 546-53.
  10. FDA. Draft Guidance-Clinical Pharmacogenomics: Premarketing Evaluation in Early Phase Clinical Studies. February 2011. (Accessed at: https://www.federalregister.gov/articles/2011/02/18/2011-3679/draft-guidance-for-industry-on-clinical-pharmacogenomics-premarketing-evaluation-in-early-phase)
  11. Anderson DC, Gomez-Mancilla B, Spear BB, et al. Elements of Informed Consent for Pharmacogenetic Research; perspective of the pharmacogenetics working group. Pharmacogenomics Journal 2002; 2(5):284-92.
  12. ICH E6 (R1) - Guideline for Good Clinical Practice. June 1996. (Accessed at: http://www.ich.org/fileadmin/Public_Web_Site/ICH_Products/Guidelines/Efficacy/E6_R1/Step4/E6_R1__Guideline.pdf)
  13. Prucka SK, Arnold LJ, Brandt JE, Gilardi S, Harty LC, Hong F, Malia JS, Pulford DJ. An Update to Returning Genetic Research Results to Individuals: Perspectives of the Industry Pharmacogenomics Working Group. Bioethics 2014: in press.
  14. JAPAN. JPMA: Pharmaceutical Administration and Regulations in Japan, March 2012. (Accessed at http://www.jpma.or.jp/english/parj/pdf/2012.pdf)
  15. JAPAN. JPMA: Issues regarding Clinical Implementation of Pharmacogenetics, March 2008 (Japanese). (Accessed at http://www.jpma.or.jp/)(Also accessed at: http://www.jpma.or.jp/about/basis/guide/pdf/phamageno.pdf)
  16. JAPAN. Ethical Guidelines for Genetic Analysis in Clinical Trials. Three ministries (Ministry of Education, Culture, Sports, Science and Technology; Ministry of Economy, Trade and Industry; and Ministry of Health, Labour and Welfare), Feb. 2013. (Access at: http://www.meti.go.jp/english/press/2013/0208_02.html)
  17. Renegar G, Webster CJ, Stuerzebecher S, et al. Returning genetic research results to individuals: points-to-consider. Bioethics 2006;20(1):24-36. (Accessed at: http://onlinelibrary.wiley.com/doi/10.1111/j.1467-8519.2006.00473.x/pdf)
  18. Franc MA, Cohen N, Warner AW, et al. Coding of DNA Samples and Data in the Pharmaceutical Industry: Current Practices and Future Directions-Perspective of the I-PWG. Clinical Pharmacology & Therapeutics 2011; 90(4): 537-545. (Accessed at: http://www.nature.com/clpt/journal/v89/n4/pdf/clpt2010306a.pdf)
  19. Genetic Information Nondiscrimination Act (GINA): 2007-2008. (Accessed at: http://www.genome.gov/24519851)
  20. Hudson KL, Holohan MK, Collins FS. Keeping pace with the times—the Genetic Information Nondiscrimination Act of 2008. New England Journal of Medicine 2008;358(25):2661-3.
  21. Ricci DS, Broderick ED, Tchelet A, et al. Global Requirements for DNA Sample Collections: Results of a Survey of 204 Ethics Committees in 40 Countries. Clinical Pharmacology & Therapeutics 2011; 89 (4); 554-561. (Accessed at: http://www.nature.com/clpt/journal/v89/n4/pdf/clpt2010319a.pdf)
  22. Warner AW, Bhathena A, Gilardi S, et al. Challenges in Obtaining Adequate Genetic Sample Sets in Clinical Trials: The Perspective of the Industry Pharmacogenomics Working Group. Clinical Pharmacology & Therapeutics 2011; 89(4): 529-536. (Accessed at: http://www.nature.com/clpt/journal/v89/n4/pdf/clpt2010305a.pdf)
  23. OHRP. International Compilation of Human Research Protections, ed. 2014. (Accessed at: http://www.hhs.gov/ohrp/international)
  24. EMA CHMP. Position Paper on Terminology in Pharmacogenetics. June 2003. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003889.pdf)
  25. EMA CHMP. Reflection Paper on the Use of Pharmacogenetics in the Pharmacokinetic Evaluation of Medicinal Products. May 2007. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003890.pdf)
  26. EMA CHMP. Guideline on Pharmacogenetic Briefing Meetings. November 2006. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003886.pdf)
  27. EMA CHMP. Reflection Paper on Pharmacogenomic Samples, Testing, and Data Handling. November 2007. (Accessed at:

http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003864.pdf)

  1. EMA CHMP. Reflection Paper on the Use of Genomics in Cardiovascular Clinical Intervention Trials. November 2007. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003865.pdf)
  2. EMA CHMP. Qualification of Novel Methodologies for Drug Development: Guidance to Applicants. January 2014. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Regulatory_and_procedural_guideline/2009/10/WC500004201.pdf)
  3. EMA. Understanding the Terminology Used in Pharmacogenetics June 2003. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2009/09/WC500003889.pdf)
  4. FDA. Companion Guidance - Pharmacogenomic Data Submissions - draft. August 2007. (Accessed at:

http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/ucm079855.pdf)

  1. FDA. Guidance - Pharmacogenetic Tests and Genetic Tests for Heritable Markers. June 2007. (Accessed at:

www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm077862.htm)

  1. FDA. Guidance - Pharmacogenomic Data Submissions. March 2005. (Accessed at:

http://www.fda.gov/downloads/RegulatoryInformation/Guidances/UCM126957.pdf)

  1. EMA FDA. – Guiding principles Processing Joint FDA EMEA Voluntary Genomic Data Submissions (VGDSs) within the framework of the Confidentiality Arrangement May 2006. (Accessed at :http://www.ema.europa.eu/docs/en_GB/document_library/Other/2009/12/WC500017982.pdf)
  2. EMA CHMP. Draft Guideline on the Use of Pharmacogenetic Methodologies in the Pharmacokinetic Evaluation of Medical Products. April 2010. (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2010/05/WC500090323.pdf)
  3. EMA CHMP. Draft Reflection Paper on Co-Development of Pharmacogenomic Biomarkers and Assays in the Context of Drug Development. June 2010 (Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2010/07/WC500094445.pdf)
  4. EMA CHMP. Draft Reflection Paper on Methodological Issues Associated with Pharmacogenomic Biomarkers in Relation to Clinical Development and Patient Selection. June 2011(Accessed at: http://www.ema.europa.eu/docs/en_GB/document_library/Scientific_guideline/2011/07/WC500108672.pdf)
  5. Rittenhouse P. Framing DNA collection in the clinic. Biocentury, The Bernstein Report on BioBusiness March 2008:A13-5.
  6. Hetherington S, McGuirk S, Powell G, Cutrell A, Naderer O, Spreen B. Hypersensitivity reactions during therapy with the nucleoside reverse transcriptase inhibitor abacavir. Clin Ther. Oct 2001;23(10):1603-14
  7. Hu X, Pickering E, Liu YC et al. Meta-Analysis for Genome-Wide Association Study Identifies Multiple Variants at the BIN1 Locus Associated with Late-Onset Alzheimer’s Disease. PloS One 2011; 6(2): 1-9