Use of Population Descriptors in Human Genetic Research

NCT00767702 | Completed

• 2 other identifiers: 99990821708-HG-N217
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

Brief Summary

This study will explore scientists opinions and practices regarding the use of population descriptors (e.g., race, ethnicity, ancestry, geography and nationality) to describe a research study population. It will collect genetic researchers opinions, understandings and experiences studying human genetics and genetic variation. Scientists who are a principal investigator or co-principal investigator n a human genetic or genomic study of a common disease with at least preliminary data that uses population descriptors may be eligible for the study. Participants are asked to think about their study populations and how they are described in their research. They participate in two audio-taped semi-structured interviews that last from about 90 to 120 minutes. They may also participate in one or both of the following optional study components:

• A third semi-structured interview that explores implementing a new method of describing study populations in data analysis.
• 2 to 3 days of lab observation, in which a member of the study research team meets the lab members, observes daily activities and attends lab meetings.

Conditions

Population Groups; Genetics, Medical; Ethnology; Disease; Qualitative Research

Keywords

Genetic/Genomic Researchers; Human Genetic Variation; Interviews; Research Design; Race/Ethnicity; Interview

Eligibility Criteria

• Age: 21 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• The study population is comprised of intramural and extramural principal investigators:
• Conducting human genetic or genomic research on common disease
• Conducting a project in which they use population descriptors to describe their study sample
• Have collected, at a minimum, preliminary data that allows them to complete an exploratory exercise re-conceptualizing their use of population descriptors in this project.
• Participation is limited to researchers who have collected data that gives them sufficient background and context to meaningfully complete this exercise. Insight gathered from our study population on alternatives to existing methods of population classification and description used in human genetic research is especially useful not only because of their professional expertise, but because they are the group that would need to implement alternatives.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Pennisi E. Breakthrough of the year. Human genetic variation. Science. 2007 Dec 21;318(5858):1842-3. doi: 10.1126/science.318.5858.1842.

  PMID: 18096770 BACKGROUND

• Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AJ, Mountain JL, Perez-Stable EJ, Sheppard D, Risch N. The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med. 2003 Mar 20;348(12):1170-5. doi: 10.1056/NEJMsb025007. No abstract available.

  PMID: 12646676 BACKGROUND

• Tang H, Quertermous T, Rodriguez B, Kardia SL, Zhu X, Brown A, Pankow JS, Province MA, Hunt SC, Boerwinkle E, Schork NJ, Risch NJ. Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet. 2005 Feb;76(2):268-75. doi: 10.1086/427888. Epub 2004 Dec 29.

  PMID: 15625622 BACKGROUND

MeSH Terms

Conditions

Disease

Condition Hierarchy (Ancestors)

Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Vence L Bonham, J.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 6, 2008
• First Posted: October 7, 2008
• Study Start: September 18, 2008
• Study Completion: August 8, 2012
• Last Updated: November 6, 2019

Record last verified: 2012-08-08

Locations

US (1)