Table 1 Reporting recommendations for evaluation of risk prediction models that include genetic variants

Title and abstract

(a) Identify the article as a study of risk prediction using genetic factors. (b) Use recommended keywords in the abstract: genetic or genomic, risk, prediction

   Background and rationale

Explain the scientific background and rationale for the prediction study

   Objectives

Specify the study objectives and state the specific model(s) that is/are investigated. State if the study concerns the development of the model(s), a validation effort, or both

Methods

   Study design and setting

Specify the key elements of the study design and describe the setting, locations, and relevant dates, including periods of recruitment, follow-up, and data collection

   Participants

Describe eligibility criteria for participants, and sources and methods of selection of participants

   Variables: definition

Clearly define all participant characteristics, risk factors and outcomes. Clearly define genetic variants using a widely used nomenclature system

   Variables: assessment

(a) Describe sources of data and details of methods of assessment (measurement) for each variable. (b) Give a detailed description of genotyping and other laboratory methods

   Variables: coding

(a) Describe how genetic variants were handled in the analyses. (b) Explain how other quantitative variables were handled in the analyses. If applicable, describe which groupings were chosen, and why

   Analysis: risk model construction

Specify the procedure and data used for the derivation of the risk model. Specify which candidate variables were initially examined or considered for inclusion in models. Include details of any variable selection procedures and other model-building issues. Specify the horizon of risk prediction (for example, 5-year risk)

   Analysis: validation

Specify the procedure and data used for the validation of the risk model

   Analysis: missing data

Specify how missing data were handled

   Analysis: statistical methods

Specify all measures used for the evaluation of the risk model, including, but not limited to, measures of model fit and predictive ability

   Analysis: other

Describe all subgroups, interactions, and exploratory analyses that were examined

Results

   Participants

Report the numbers of individuals at each stage of the study. Give reasons for non-participation at each stage. Report the number of participants not genotyped, and reasons why they were not genotyped

   Descriptives: population

Report demographic and clinical characteristics of the study population, including risk factors used in the risk modeling

   Descriptives: model estimates

Report unadjusted associations between the variables in the risk model(s) and the outcome. Report adjusted estimates and their precision from the full risk model(s) for each variable

   Risk distributions

Report distributions of predicted risks and/or risk scores

   Assessment

Report measures of model fit and predictive ability, and any other performance measures, if pertinent

   Validation

Report any validation of the risk model(s)

   Other analyses

Present results of any subgroup, interaction, or exploratory analyses, whenever pertinent

Discussion

   Limitations

Discuss limitations and assumptions of the study, particularly those concerning study design, selection of participants, and measurements and analyses, and discuss their impact on the results of the study

   Interpretation

Give an overall interpretation of results considering objectives, limitations, multiplicity of analyses, results from similar studies, and other relevant evidence

   Generalizability

Discuss the generalizability and, if pertinent, the health care relevance of the study results

Other

   Supplementary information

State whether databases for the analyzed data, risk models, and/or protocols are or will become publicly available and, if so, how they can be accessed

   Funding

Give the source of funding and the role of the funders for the present study. State whether there are any conflicts of interest