NAPS2 – Contributors

This site is for NAPS2 contributors to post their picture and to note their role, to add some words of congratulations to the team, or add some perspectives on the the effort…. These pictures and comments will be highlighted during the celebration on July 25, 2019 in Pittsburgh!

PF19: Genetic Question 8

How should patients and families receive GENETIC TESTING COUNSELING

Chairs: Randall E. Brand MD, Balázs Németh MD PhD, TBN

Delegates: Katya Orlova MS CGC, Prof. Grzegorz Oracz MD, Ph.D, Katarzyna Wertheim-Tysarowska, Ph.D, Péter Hegyi MD PhD
and TBN

Considerations: What are appropriate roles for MDs, genetic counselors and others? How to translate genetic test results to clinically useful descriptors? How should pathogenic scores be generated for each patient and associate with level of risk?

References to consider: Shelton et al: PMID 26561988

PF19: Genetic Question 7

For complex pancreatic diseases clinical research information sharing, which public databases shall be updated, and how shall information be shared through collaborative data sharing agreements?

Chairs: Ben Busby PhD, John Neoptolemos MD FRCS FMedSci,

Delegates: Péter Hegyi MD PhD, Andrea Párniczky MD 

Considerations:

What kind of new databases, or support structures are needed? New challenge: how to track and report exome and genome data? How to share data and harmonize data.

PF19: Genetic 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?

Chairs: Aliye Uc MD,

Delegates: Andrea Párniczky MD,

Considerations: This should include information on which model was used to design and conduct the study, and how much information about each individual patient should be included in int report.

PF19: Genetics 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?

Chairs: Jami Salomon PhD and TBA.

Delegates: Brandon Blobner PhD, Eszter Hegyi MD PhD (contact Dr Whitcomb or Sahin-Toth to be added)

Considerations: Mechanistic pathways (trypsin, misfolding, ductal) are typically defined based on pathogenic variants with strong effects and strong evidence. Variants with weaker effects or lower levels of evidence could then matched to one these pathways.

PF19: Genetics 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?

Chairs: Mark Lowe MD PhD, Michael Wilschanski MD, Agnieszka Rygiel PhD

Delegates: Jia-Min Chen PhD, Rup Talukard MD, Pramod Garg MD, Katarzyna Wertheim-Tysarowska, Ph.D, Vinciane Rebours, MD PhD, Andrea Párniczky MD (email request to Dr. Whitcomb or Dr. Sahin-Toth)

Considerations: How should investigators and clinicians interpret MAF, computer predictions, molecular modeling, clinical evidence, animal models, biomarker evidence, etc. Define “pathogenic” or “mutation of variable clinical significance” more accurately. How should genetic (clinical) evidence= association, effect size, p value, replications be quantify and qualified? Functional evidence (define and quantify strength of evidence different levels) i.e. predictions, modeling, biochemical, cell biological (test tube, cell culture), animal models. Should pathogenicity be quantified with a score based on the genetic and functional evidence. Should labels such as modifier or variable significance be used, or just labeling variants as pathogenic, neutral or protective and add quantitative descriptors (scores).

PF19: Genetics Question 3

For complex pancreatic disease GENETIC VARIANT DESCRIPTIONS, what descriptive information shall be included in the initial publication and subsequent reports?

Chairs: Lu Chen PhD,Pramod Garg MD and TBA

Delegates: Brandon Blobner PhD, Jia-Min Chen, John Neoptolemos MD, Eszter Hegyi MD PhD, Balázs Németh MD PhD and TBA (email request to Dr. Whitcomb or Dr. Sahin-Toth)

Considerations: This should likely include accurate MAF information for the relevant comparison populations, detailed contextual information of the comparison groups, effect prediction methods, other? Initial publication should contain replication cohort. Need consensus what other genes should be always looked at to provide genetic context. New problem: how to utilize and report exome or genome Seq data?

PF19: Genetics Question 2

For complex pancreatic disease POPULATION STUDIES, what genetic information shall be included in the genotyping method, analysis pipeline, and annotation?

Chairs: Agnieszka Rygiel MD and TBN

Delegates: Balázs Németh MD PhD, Eszter Hegyi MD PhD (email request to Dr. Whitcomb or Dr. Sahin-Toth)

Considerations: Should researchers include detailed description of the population, ancestry, SNP chip (minimal standard to do high quality imputation), sequencing (minimal depth and quality of key loci?) study design or publication.  Should recommendations include other information such as  details of the analytic pipeline?

PancreasFest 2019!

“A joint meeting of physicians and scientists committed to learning and collaborating on translational studies of pancreatic diseases.”

Registration is PENDING

2019 Venue:  The growth of PancreasFest requires new venues.  The locations will now rotate through three Pittsburgh sites.  The 2019 location is The William Pitt Union on the University of Pittsburgh campus.   There is a new 4 Star hotel across the street, the previous campus hotels, and very inexpensive college dorm rooms for the meeting. We look forward to seeing you in July!

Working Groups:  One of the most important functions of PancreasFest is the opportunity for motivated physicians and scientists to have face-to-face meetings to develop and advance working groups.   Annual meetings and updates of the following groups are planned:  See Working Groups tab for more information.

Social:  Thursday Night “Special Celebration” Pre-registration is required (see Social – contact Joy Merusi)


Pancreatic Academy –

Registration is PENDING:

CAPER Travel Scholarships   (see travel under “About PancreasFest“)

Travel Scholarships to PancreasFest for Trainees, Young Investigators and others.  (More information to follow)

Poster are being accepted – linked to travel scholarships.  These are for discussion, so previously presented posters are welcome.   The poster session is the best place to have your talents and hard work highlighted for the experts!

More information:  Caper Web Site.