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DNA Registry Needs Participation by NIEHS Employees

By Blondell Peterson
February 2006

image of the Environmental Polymorphisms Registry Consent Form

All NIEHS employees will soon have an opportunity to participate in an important NIEHS research project. A study drive will be held for the Environmental Polymorphisms Registry at NIEHS Feb. 27-March 3 from 8:30 a.m. to 5:00 p.m. in the Rodbell Auditorium. This DNA registry will enable scientists to look for variations in human genes, known as polymorphisms, and then re-contact participants for future investigations based on their genotypes. Anyone who is 18 years of age or older can participate in the registry and help local scientists find the causes and cures for diseases like Alzheimer's, cardiovascular disease, cancer, diabetes, asthma and others. According to Pat Chulada, an NIEHS health scientist, this registry is unlike most other DNA registries in existence, in which participants give their blood samples anonymously.

"We're asking all NIEHS employees to volunteer for this important research program," Chulada said. Advertisements will be posted throughout the NIEHS later this month. Participants will be required to read and sign a consent form, provide some basic information such as their birth date and race/ethnicity, and give 15 ml of blood which is about a tablespoon amount. Each donor will be paid $20.00 for participating. Back in the lab, DNA will then be isolated from their blood, coded with a personal identification number, and made available for genotyping to investigators at the NIEHS and local universities, according to Chulada. DNA samples may be decoded for future studies but only after a rigorous review process for scientific merit and design, and human research protections.

Chulada, who is also an investigator for the EPR, said she is excited about the NIEHS study drive and expects a great turnout from NIEHS employees. "Because of the nature of our work, most NIEHS employees understand the importance of this type of genetic resource regardless of their backgrounds," she said

Perry Blackshear, director of the NIEHS Program in Clinical Research, said of the EPR, "This DNA resource should provide opportunities for NIEHS scientists and other academic scientists interested in the general concept of "ascertainment by genotype." Blackshear gave the following examples:

  • First, it will allow investigators to determine simple prevalence rates of a polymorphism in a relatively unselected local population.
  • Second, it will allow for the possibility of identifying families in which to confirm the composition of haplotypes, which are usually predicted statistically.
  • Finally, it should allow for the identification of individuals, and potentially families, in which specific polymorphisms are found. We can then attempt to correlate these genetic variants with specific diseases, with disease natural history, and with other clinical traits. So far, we have been very gratified at the willingness of the local community to participate in this long term genetic research program."

The EPR is a collaborative effort between the Office of Clinical Research at the NIEHS and the General Clinical Research Center at the University of North Carolina at Chapel Hill. The EPR DNA samples are now available for genotyping to all NIEHS researchers and requests should go through Chulada or Michael Spencer, Clinical Research Administrator for the OCR.

As to the importance of this resource, Chulada said, "DNA banks are essential to human genomics research. Many of the genetic risk factors for common disease have not yet been identified, and the interactions of genes with other genes and with our environments are not clearly understood. DNA banks with linked identifiers, such as the EPR, give scientists the ability to study groups of people who have the same genetic variations, and their clinical traits, lifestyles, and potential risk factors. These types of studies, however, require large numbers of people with the same genetic variants, and achieving these numbers is possible only with resources like the EPR."

Other investigators working on the registry are Paul Watkins, director of the GCRC at UNC Hospitals and Susan Pusek, director of Training and Career Development at the GCRC at UNC Hospitals. Heather Vahdat, assistant manager of the Clinical Research Program at Integrated Laboratory Systems, Inc., is the study manager and oversees day to day logistics.

In spite of the relatively short existence of the EPR, more than 2,300 people have already been enrolled, according to Vahdat. The goal is to recruit 20,000 individuals from the NC triangle region in a 5-year period. Recruitment began at two UNC outpatient clinics, the Family Practice Clinic and Ambulatory Care Center, but was shortly expanded to other UNC clinics, Rex Hospital and local businesses in the RTP. Chulada said participation rates at the various locations have been high, with about 80% of the individuals being asked, agreeing to participate. Future EPR recruitment sites will include clinics within the Duke Healthcare System, the EPA, other universities and some major corporations, according to Chulada. "Recruitment venues also will be diversified in order to reach minorities and other groups with historically low rates of participation in research," Chulada said.

For the EPR study drive at NIEHS, a phlebotomist/recruiter will be available to take blood samples in the Rodbell Auditorium from 8:30 a.m. to 5:00 p.m. on the following days:

  • Feb. 27 - Auditorium C
  • Feb. 28 - Auditorium C
  • March 1 - Auditorium A
  • March 2 - Auditorium C
  • March 3 - Auditorium C

For more information on the EPR and how to participate, contact Vahdat at (919) 281-1110, extension 706 or

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