HuGENet™e-Journal Club Review]

HuGENet™e-Journal Club Review]
Abstraction Template

Key variables and description Article
Reference
Complete the bibliographic reference for the article according to AJE format.
[First Author Last Name] [First Name Initial], et al. [Title of Journal Article]. [Journal Title]. [Year] Month;volume(issue):pages.
Category of HuGE information

Specify the types of information (from the list below) available in the article:
1. Prevalence of gene variant
2. Gene-disease association
3. Gene-environment interaction
4. Gene-gene interaction
5. Genetic test evaluation/monitoring
Study hypotheses or purpose

State the authors study hypotheses or main purpose for conducting the study.

Gene(s)

Identify the following:
• Gene name
• Chromosome location
• Gene product/function
• Alleles
• OMIM # Gene name:
Chromosome location
Gene product/function
Alleles:
OMIM #:

Gene name: [Repeat for second gene, if applicable]

Environmental factor(s)
Identify the major environmental factors studied (infectious, chemical, physical, nutritional, and behavioral).
[List numerically]
Health outcome(s)

Identify the major health outcome(s) studied.
[List numerically]

Study design

Specify the types of study designs (from the list below) in the article:
1. Case-control
2. Cohort
3. Cross-sectional
4. Descriptive or case-series
5. Clinical trial
6. Population screening [Insert all that apply]

Case definition

For study designs 1, 4, and 5, define the following if available:
• Disease case definition
• Exclusion criteria
• Gender
• Race/ethnicity
• Age
• Time period
• Geographic location
• Number of participants (% of total eligible)
[Note: Depending on the study design being discussed, this cell may not apply]
Disease case definition:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert ‘not specified’]
Age:
Time period:
Geographic location: [if not specified, insert ‘not specified’]
Number of participants: N (% of total eligible)
Control definition

For study design 1, define the following if available:
• Control selection criteria
• Matching variables
• Exclusion criteria
• Gender
• Race/ethnicity
• Age
• Time period
• Geographic location
• Number of participants (% of total eligible)
[Note: Depending on the study design being discussed, this cell may not apply]
Control selection criteria:
Matching variables:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert ‘not specified’]
Age:
Time period:
Geographic location: [if not specified, insert ‘not specified’]
Number of participants: N (% of total eligible)
Cohort definition

For study designs 2, 3, and 6, define the following if available:
• Cohort selection criteria
• Exclusion criteria
• Gender
• Race/ethnicity
• Age
• Time period
• Geographic location
• Number of participants (% of total eligible)
[Note: Depending on the study design being discussed (i.e. case control), this cell may not apply]
Cohort selection criteria:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert ‘not specified’]
Age:
Time period:
Geographic location: [if not specified, insert ‘not specified’]
Number of participants: N (% of total eligible)

Assessment of environment factors

For studies that include gene-environment interactions, define the following if available:
• Environmental factor
• Exposure assessment
• Exposure definition
• Number of participants with exposure data (% of total eligible)
Environmental factor:
Exposure assessment:
Exposure definition:
Number of participants with exposure data: N (% of total eligible)

Environmental factor: [Repeat for additional environmental factor, if applicable]

Genotyping

Specify the following:
• Gene
• DNA source
• Methodology
• Number of participants genotyped (% of total eligible)
Gene:
DNA source:
Methodology:
Number of participants genotyped: N (% of total eligible)

Gene: [Repeat for each additional gene, if applicable]

Analysis
Comment on the analysis carried out by the author(s). E.g. matching, modeling or statistical test used. Were the analyses appropriate?
Results

Describe the major results under each of the following HuGE categories. Include tables when data are provided:
1. Prevalence of gene variant
2. Gene-disease association
3. Gene-environment interaction
4. Gene-gene interaction
5. Genetic test evaluation/monitoring
Conclusion

State the author’s overall conclusions from the study.

Comments

Provide additional insight, including methodologic issues and/or concerns, about the study.
The project is written in the style of a HuGEnet e-journal review. It will consist of two parts- an abstraction template and the final paper.Prior to the due date for the abstraction template, students will find a primary research article (a report by the investigator of the original research done by that investigator) from within the last four years on a genetic epidemiology article which provides one or more of the following types of information: Prevalence of a gene variant, gene-disease association, gene-environment interaction, gene-gene interaction, or the evaluation of a genetic test. Students may not choose an article that has already been reviewed on the HuGEnet e-journal. Students may find articles in full text. The article being reviewed must be provided with the abstraction template and the final paper. The abstraction template is posted as a discussion assignment. The article choice will be approved by the instructor upon review of the abstraction template.

Once your article has been approved, proceed with compiling research for the review of the article. The review is an 8-10 page double spaced paper, not counting references. Provide a title page and use APA format. Be sure to use APA style headers. Demonstrate synthesis of the topic by discussing and citing multiple references to recent primary studies, which have been done on this disease or health outcome. Provide a good overview of this problem and its relevance to the field of genetic epidemiology. Topic headers will include Statement of the Problem, Molecular Basis of (Disease Name), Findings, Discussion, and Conclusions.
Statement of the Problem: Begin with a solid introduction to the problem. Describe, in some depth, the disease or health outcome, including information on the public health significance (incidence, prevalence, morbidity, mortality). Validate with statistics and references.

Molecular Basis of (Disease Name): Include information on genes associated with the health outcome and what is known or not known about the genetic component. Explain mutation nomenclature. Discuss the molecular basis of the disease and gaps in knowledge. Be sure to discuss gene-gene or gene-environment interaction if it is relevant to your topic. Validate with statistics and references. Multiple, recent, primary articles will provide scholarly depth.

Findings: This section is limited to a review of the approved article. Present the findings of the study from the article you selected for the abstraction template. Include the hypothesis (be sure to explain the knowledge gap that this article is attempting to fill), the type of study (e.g. cohort, case control, etc.), the category of HuGENet information from the abstraction template (gene-disease association, etc.), study participant information, a brief description of the genetic component to the study (which should have been fully explained above, and therefore logically connected as needed here), the major results, and the author’s conclusion (paraphrased, not quoted).

Discussion: Reiterate with your own interpretation of the results. Take a stance as to the value of this study, including bias or other problems and limitations. Demonstrate graduate level scholarship through original writing and proper paraphrasing. Do not quote unless necessary to point out something in the original article. Demonstrate synthesis by citing other relevant studies, noting the similarities and differences between the results of this study and other published primary literature. Be sure to draw connections between this study and the studies you discussed previously.

Conclusions: Provide a summary of your own conclusions as to the value of this entire study in terms of knowledge generation. Describe how the information from this study may or may not impact public health, including prevention, diagnosis, and/or treatment of the disease. Identify gaps in knowledge or controversy, where additional research is needed. Be sure to discuss ethical, legal, and social implications of this knowledge as it applies to your topic.

Scholarly writing expectations: Students are expected to utilize APA format for the paper and reference list and use appropriate scholarly tone. The paper should be written as though this were to be published in a HuGENet Review. The paper should be free of typographical, spelling, and grammatical errors. Students are expected to use mainly primary sources to support the review. Peer-reviewed journal articles should make up the bulk of references. Note that review articles are a secondary source.

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