The International Pancreatitis Genetics Congress is an effort to establish standards for collecting information during genetic studies, reporting the data and sharing data to advance precision medicine.
International Pancreatitis Genetics Congress: Harmonization and Standards
The Congress includes the contributions of delegates, who are determined to be experts in pancreatitis, epidemiology and/or genetics and who have graduate degrees and research experience.
Delegates will contribute responses to 8 questions related to genetic variant calls and their annotation in pancreatic disease. The Chairs of each section will summarize the consensus of the delegates assigned to each question. The summaries will be circulated among delegates prior to the congress meeting.
On July 26 the Delegates and Chairs will meet in Pittsburgh for presentation of the questions and final discussion of the recommendations. The final responses will be summarized in documents that will be submitted to a peer review journal for review and, if appropriate, publication.
Delegates. Experts in pancreatic disease, epidemiology and/or genetics who want to participate in the Congress should apply to be a delegate by identify the questions of interest and send their contact information, curriculum vitae and three representative publications (e.g. PMID#) to: David C Whitcomb MD PhD or Miklos Sahin-Toth MD PhD.
Question #1: For complex pancreatic disease PHENOTYPIC DESCRIPTIONS, which descriptive and quantitative clinical data shall be included in the patient demographics, risk factors and phenotyping? Delegate comment link
Question #2: For complex pancreatic disease POPULATION STUDIES, what genetic information shall be included in the genotyping method, analysis pipeline, and annotation? Delegate comment link
Question #3: For complex pancreatic disease GENETIC VARIANT DESCRIPTIONS, what descriptive information shall be included in the initial publication and subsequent reports? Delegate comment link
Question #4: For complex pancreatic disease VARIANT PATHOGENICITY EVALUATION, what types of evidence shall be included? How shall the levels of evidence be defined in terms of gene dysfunction, clinical context, biomarkers, clinical disease features, and other evidences? Delegate comment link
Question #5: For complex pancreatic disease MODELS, how shall each animal model, cell culture model, omics analysis pipeline, or computational model be defined and associated with complex clinical disease mechanisms? Delegate comment link
Question #6: For complex pancreatic disease CLINICAL STUDIES, what demographic, history, biomarker, disease state, targeted disorder, intervention, and outcome data from individual subjects shall be included and reported? Delegate comment link
Question #7: For CLINICAL RESEARCH INFORMATION SHARING related to complex pancreatic diseases, which public databases shall be updated? How should information be shared through collaborative data sharing agreements? Delegate comment link
Question #8: How should patients and families receive GENETIC TESTING COUNSELING? How can genetic test results be translated into clinically useful descriptors? How can pathogenic scores that are associated with levels of risk be created for each patient? Delegate comment link