GeneticsNCT00339924
Physicians' Understanding of Human Genetic Variation
An observational study of Genetics, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will develop a survey instrument to measure primary care physicians' knowledge of the variation in human genetics, their beliefs about biologic and genetic differences according to patients' race and ethnicity, and how that knowledge is used in their clinical decision making. Read more about this study
- Who is it for?
- Ages 18 to 115 years
- Conditions the study is for
- Genetics
- How many people
- 1,258 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Jul 2005to 13 Apr 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 115 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The population of interest for this phase of the study are currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States.@@@
Who may be able to join
- The population of interest for this phase of the study are currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States. Investigators have selected this population for multiple reasons. General internists are on the frontlines of health care delivery and have become increasingly more responsible for the translation of genomic knowledge into clinical practice.
- Further, selecting general internists for this phase of the study is consistent with populations included in Phases I and II of the study. Lastly, limiting our pool of potential respondents to general internists helps to minimize costs associated with this study.
Who cannot join
- We will exclude physicians with addresses outside of the continental United States, as well as, physicians who are not in active practice (see patients <10% of their time), deceased, or retired prior to randomly selecting the sample. Because questions surrounding clinical decision making are a key component of this survey, it is imperative that we only include practicing physicians in the sample.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This study will develop a survey instrument to measure primary care physicians' knowledge of the variation in human genetics, their beliefs about biologic and genetic differences according to patients' race and ethnicity, and how that knowledge is used in their clinical decision making.
Genomics research today is such that primary care physicians will be responsible for translating new genetic knowledge, drug therapies, and single and multiplex genetic testing into clinical practice.
Read more
Physicians who are board certified general internists, including those who practice and teach in research and teaching hospitals in urban areas of the United States, may be eligible for this study. Participants will be recruited through invitation and information letters mailed to leaders of local chapters of physician organizations, through letters and e-mail sent to qualifying general internists in databases, and through e-mail sent to academic physicians who practice or teach medicine at medical schools that meet the inclusion criteria. The number of participants is estimated at 96 in the first phase of the study. The researchers are especially interested in general internists who provide general and preventative health care services to patients of various racial, ethnic, and ancestral backgrounds. This study will use qualitative methods-focus groups and semistructured interviews-and quantitative methods. Two pilot focus group sessions, with about eight members each, are planned for Washington, D.C. Other settings for the study are Atlanta, Detroit, Los Angeles, and Philadelphia. Those locations were selected based on population density, availability of several teaching hospitals with diverse patient populations, availability of physicians meeting the study requirements, and the need to address important regions nationwide.
The focus groups will be separated by region and self-identified race-for example, one group consisting of African American internists from Atlanta and another of white internists from Atlanta. The facilitator will be a general internist of the same race. Each focus group session, to last about 90 minutes, will be audiotaped and transcribed verbatim. Data from the focus groups will be analyzed for themes and phrases, and a scale will be developed to assess responses. Then the scale will be reviewed by two panels of experts. One panel will be experts in genetics and human genetic variation, and the other will be social scientists and survey researchers who are experts in developing surveys. For the semistructured interviews, two physicians who participated in a given focus group will be invited to participate, based on their engagement in the discussion and interest in the project. This will be a face-to-face interview of 60 to 90 minutes. A total of 32 interviews will be conducted. After the scale is revised, a second pilot study will be done. For that study, 3,500 primary care physicians will be invited to participate in a web-based survey by using the scale. It is anticipated that there will be sufficient sample size to examine the properties of the scale. The proposed timetable for the study is 2 years.
Benefits from participating in the study include participants' increased understanding of human genetic variation and awareness of how other physicians understand and use race and ethnicity in their practice of medicine. Also, information gained will be useful to improve physicians' training. There will be compensation for participation. Each physician will receive $150, and those who participate in both the focus group and semistructured interview will receive $150 for each session.
...
Read the detailed description
In recognition of the emerging social and scientific research related to assessing the complex relationships between self-identified race, ancestral origin and the genetic components of diseases, it is important to study physicians and other health professionals knowledge of human genetic variation and how they interpret and apply race, ethnicity and human genetic variation in their clinical decision making. Primary care physicians will be responsible for the translation of new genomic knowledge, including the use of pharmacogenomic and multiplex genetic testing in clinical practice. Understanding health professionals knowledge, beliefs and practices will provide important data for furthering health services and research. The Physicians Understanding of Human Genetic Variation study (PUHGV) is a three-phase, mixed-method study using both qualitative (focus groups and semi-structured interviews) and quantitative methods (web-based survey). The first phase of the study used qualitative methods to investigate racial and ethnic differences in how physicians understand and use genetics, race and ethnicity in their practice and to assist in developing the Health Professionals Genetic Education Needs Exploration survey instrument (HP GENE). Bonham and Sellers developed and piloted the Human Genetic Variation-Health Professionals Knowledge, Beliefs, and Use Scales (HGV-HP) to measure physicians knowledge of human genetic variation (HGV-HP Knowledge), beliefs about biologic and genetic differences based upon their patients race and ethnicity (HGV-HP Beliefs), and use of these constructs in their clinical decision making approaches (HGV-HP Use). The HGV-HP Scales are a component of the larger HP GENE survey instrument. The second phase of the study piloted these instruments with a random sample of United States general internists from diverse racial and ethnic backgrounds and geographic areas of the United States to assess the psychometric properties of the scales and investigate the role of incentives in recruiting physicians to participate in web surveys. Informed by the pilot testing of the instrument, the third phase of this study is to conduct a national survey using the instrument and scales with health professionals from different health disciplines.
- Conditions
- Genetics
- Keywords
- Clinical Decision-Making, Physician Bias, Genetics, Race, Ethnicity, Natural History, Human Genetic Variation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Physicians | Currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Knowledge and understanding
The objective of this study is to investigate how health professionals understand and use genomics in clinical practice including their knowledge and understanding of human genetic variation, race, and ethnicity in disease risk.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start11 Jul 2005
- Primary completion13 Apr 2012
- Study completion13 Apr 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for GeneticsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 1,258 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Vence L Bonham, J.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00339924
- Sponsor's protocol ID
- 999905196
- Other IDs
- 05-HG-N196
- Status last verified
- May 2025
- First submitted
- 19 Jun 2006
- Last updated
- 4 May 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. doi: 10.1038/nature01626. Epub 2003 Apr 14. No abstract available.
PubMed 12695777Grumbach K, Bodenheimer T. A primary care home for Americans: putting the house in order. JAMA. 2002 Aug 21;288(7):889-93. doi: 10.1001/jama.288.7.889.
PubMed 12186609Schwartz RS. Racial profiling in medical research. N Engl J Med. 2001 May 3;344(18):1392-3. doi: 10.1056/NEJM200105033441810. No abstract available.
PubMed 11333999
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Physicians' Understanding of Human Genetic Variation
- ClinicalTrials.gov ID
- NCT00339924
- Acronym / sponsor ID
- 999905196
- Conditions
- Genetics
- Keywords
- Clinical Decision-Making, Physician Bias, Genetics, Race, Ethnicity, Natural History, Human Genetic Variation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,258 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 11 Jul 2005
- Primary completion
- 13 Apr 2012 (actual)
- Study completion
- 13 Apr 2012 (actual)
- First posted
- 21 Jun 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will develop a survey instrument to measure primary care physicians' knowledge of the variation in human genetics, their beliefs about biologic and genetic differences according to patients' race and ethnicity, and how that knowledge is used in their clinical decision making.
Genomics research today is such that primary care physicians will be responsible for translating new genetic knowledge, drug therapies, and single and multiplex genetic testing into clinical practice.
Physicians who are board certified general internists, including those who practice and teach in research and teaching hospitals in urban areas of the United States, may be eligible for this study. Participants will be recruited through invitation and information letters mailed to leaders of local chapters of physician organizations, through letters and e-mail sent to qualifying general internists in databases, and through e-mail sent to academic physicians who practice or teach medicine at medical schools that meet the inclusion criteria. The number of participants is estimated at 96 in the first phase of the study. The researchers are especially interested in general internists who provide general and preventative health care services to patients of various racial, ethnic, and ancestral backgrounds. This study will use qualitative methods-focus groups and semistructured interviews-and quantitative methods. Two pilot focus group sessions, with about eight members each, are planned for Washington, D.C. Other settings for the study are Atlanta, Detroit, Los Angeles, and Philadelphia. Those locations were selected based on population density, availability of several teaching hospitals with diverse patient populations, availability of physicians meeting the study requirements, and the need to address important regions nationwide.
The focus groups will be separated by region and self-identified race-for example, one group consisting of African American internists from Atlanta and another of white internists from Atlanta. The facilitator will be a general internist of the same race. Each focus group session, to last about 90 minutes, will be audiotaped and transcribed verbatim. Data from the focus groups will be analyzed for themes and phrases, and a scale will be developed to assess responses. Then the scale will be reviewed by two panels of experts. One panel will be experts in genetics and human genetic variation, and the other will be social scientists and survey researchers who are experts in developing surveys. For the semistructured interviews, two physicians who participated in a given focus group will be invited to participate, based on their engagement in the discussion and interest in the project. This will be a face-to-face interview of 60 to 90 minutes. A total of 32 interviews will be conducted. After the scale is revised, a second pilot study will be done. For that study, 3,500 primary care physicians will be invited to participate in a web-based survey by using the scale. It is anticipated that there will be sufficient sample size to examine the properties of the scale. The proposed timetable for the study is 2 years.
Benefits from participating in the study include participants' increased understanding of human genetic variation and awareness of how other physicians understand and use race and ethnicity in their practice of medicine. Also, information gained will be useful to improve physicians' training. There will be compensation for participation. Each physician will receive $150, and those who participate in both the focus group and semistructured interview will receive $150 for each session.
...
Detailed description
In recognition of the emerging social and scientific research related to assessing the complex relationships between self-identified race, ancestral origin and the genetic components of diseases, it is important to study physicians and other health professionals knowledge of human genetic variation and how they interpret and apply race, ethnicity and human genetic variation in their clinical decision making. Primary care physicians will be responsible for the translation of new genomic knowledge, including the use of pharmacogenomic and multiplex genetic testing in clinical practice. Understanding health professionals knowledge, beliefs and practices will provide important data for furthering health services and research. The Physicians Understanding of Human Genetic Variation study (PUHGV) is a three-phase, mixed-method study using both qualitative (focus groups and semi-structured interviews) and quantitative methods (web-based survey). The first phase of the study used qualitative methods to investigate racial and ethnic differences in how physicians understand and use genetics, race and ethnicity in their practice and to assist in developing the Health Professionals Genetic Education Needs Exploration survey instrument (HP GENE). Bonham and Sellers developed and piloted the Human Genetic Variation-Health Professionals Knowledge, Beliefs, and Use Scales (HGV-HP) to measure physicians knowledge of human genetic variation (HGV-HP Knowledge), beliefs about biologic and genetic differences based upon their patients race and ethnicity (HGV-HP Beliefs), and use of these constructs in their clinical decision making approaches (HGV-HP Use). The HGV-HP Scales are a component of the larger HP GENE survey instrument. The second phase of the study piloted these instruments with a random sample of United States general internists from diverse racial and ethnic backgrounds and geographic areas of the United States to assess the psychometric properties of the scales and investigate the role of incentives in recruiting physicians to participate in web surveys. Informed by the pilot testing of the instrument, the third phase of this study is to conduct a national survey using the instrument and scales with health professionals from different health disciplines.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Physicians | – | –Currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States. |
Who may qualify
- Ages
- 18 to 115 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The population of interest for this phase of the study are currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States.@@@
Key inclusion criteria (2 listed)
- The population of interest for this phase of the study are currently practicing, board certified general internists, both allopathic and osteopathic, whose offices are in the United States. Investigators have selected this population for multiple reasons. General internists are on the frontlines of health care delivery and have become increasingly more responsible for the translation of genomic knowledge into clinical practice.
- Further, selecting general internists for this phase of the study is consistent with populations included in Phases I and II of the study. Lastly, limiting our pool of potential respondents to general internists helps to minimize costs associated with this study.
Key exclusion criteria (1 listed)
- We will exclude physicians with addresses outside of the continental United States, as well as, physicians who are not in active practice (see patients <10% of their time), deceased, or retired prior to randomly selecting the sample. Because questions surrounding clinical decision making are a key component of this survey, it is imperative that we only include practicing physicians in the sample.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Knowledge and understanding
Time frame: Ongoing
The objective of this study is to investigate how health professionals understand and use genomics in clinical practice including their knowledge and understanding of human genetic variation, race, and ethnicity in disease risk.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2025.
- Background: PubMed 12695777Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. doi: 10.1038/nature01626. Epub 2003 Apr 14. No abstract available.
- Background: PubMed 12186609Grumbach K, Bodenheimer T. A primary care home for Americans: putting the house in order. JAMA. 2002 Aug 21;288(7):889-93. doi: 10.1001/jama.288.7.889.
- Background: PubMed 11333999Schwartz RS. Racial profiling in medical research. N Engl J Med. 2001 May 3;344(18):1392-3. doi: 10.1056/NEJM200105033441810. No abstract available.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vence L Bonham, J.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetics, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Knowledge and understanding (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00339924, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2025.