Instructions & Forms for Accessing EPR /Samples
The NIEHS is establishing a repository of DNA samples collected as part of the Environmental Polymorphisms Registry (EPR). It is an ongoing project initiated by the Office of Clinical Research to help NIEHS and other scientists screen for genetic polymorphisms in "environmentally sensitive genes." DNA samples in the EPR are coded with unique identification numbers that are linked to subjects' identities, allowing investigators to re-contact subjects with "genotypes of interest" for follow-up studies.
Researchers can request DNA samples from the EPR by following the instructions below. NIEHS investigators are allowed to genotype EPR samples under existing NIEHS Institutional Review Board (IRB) protocols (04-E-N053 and 02-E-N004). Outside investigators must follow the regulations of their own institution for obtaining IRB approval or IRB exemption to receive EPR samples for genotyping. Documentation of IRB approval or exemption will be required.
A major objective of the EPR is to facilitate studies that require ascertainment by genotype. Therefore, priority will be given to genotyping projects that are likely to lead to follow-up studies. Follow-up studies require their own IRB review and approval; no EPR samples will be decoded for follow-up studies until IRB documentation is provided. Instructions for requesting the identities and contact information of EPR subjects for follow-up studies are also provided below.
Non-NIEHS investigators will be charged for receiving EPR samples, which helps defray the costs of sample collection, preparation, and distribution. An estimate for the cost of the samples will be provided to the recipient by NIEHS.
For questions concerning the EPR or its application process, please contact Stavros Garantziotis at firstname.lastname@example.org.
Individual sample quantities are limited, so please request only the minimum amount required. The maximum limit is 1 μg DNA per sample. Samples may be requested by gender, race/ethnicity, age, and type of population (clinic or general population). For outside investigators who will seek IRB exemption, the key linking the samples back to the subjects’ identities can be completely destroyed after they are shipped, if requested.
Investigators requesting EPR DNA samples for genotyping must do the following:
- Complete the EPR Sample Request/Genotyping Project Overview Form (42KB) . The information for Item #11 should not exceed 2 pages. All information provided in this form will be kept confidential.
- If the recipient of the EPR DNA samples is a non-NIEHS investigator, he or she will be required to complete and sign the EPR Material Transfer Agreement (MTA) (44KB) .
Submit the forms to Stavros Garantziotis at email@example.com.
Applications will be reviewed by the Core EPR Steering Committee which consists of Stavros Garantziotis, M.D., EPR Principal Investigator and Medical Director, Clinical Research Unit; Nell Burch, Ph.D., Molecular Genetics Core Facility; Perry Blackshear, M.D., Ph.D., Laboratory of Signal Transduction; Jack Taylor, M.D., Epidemiology Branch; and Paul Watkins Ph.D., Director, Hamner Institute. Subject matter experts may be added to the Core Steering Committee if needed.
If approved, the investigator will receive the required number and type of EPR DNA samples in coded form. Any investigator who receives EPR samples agrees to retain control of the samples at all times. The investigator further agrees not to transfer one or more EPR samples to other people not under his or her direct supervision, unless first obtaining permission from the Core EPR Steering Committee. The investigator also agrees to dispose of the EPR samples as directed by the Committee once the project is completed or after three years have elapsed. For outside investigators, these rules and responsibilities are also outlined in the mandatory EPR MTA (see #2 under Sample Requests).
The Core EPR Steering Committee recommends and encourages that researchers publish all findings of new genotypes in the Short Genetic Variations (dbSNP) website , sponsored by the National Center for Biotechnology Information (NCBI). The dbSNP website has instructions for how to submit genotype data.
Subject Identification for Follow-up Studies
Once genotyping and data analysis are complete, if the investigator wishes to have samples decoded in order to re-contact EPR participants for a follow-up study, she or he must do the following:
- Obtain scientific approval based on the rules and regulations of his/her own laboratory, branch, and/or institution.
- Obtain IRB approval from the appropriate IRB for their institution.
For NIEHS investigators, information for the NIEHS IRB may be found at: http://www.niehs.nih.gov/about/boards/irb/ (http://www.niehs.nih.gov/about/boards/irb/)
- Submit the EPR Study Review Form (24KB) and IRB Study Protocol with documentation of IRB approval to Stavros Garantziotis at firstname.lastname@example.org.
Applications for follow-up studies and sample identification will be reviewed by the EPR Steering Committee. Once the application is approved, EPR samples can be decoded and contact information provided.