Working Group Meeting January 30-31, 2012
EGAPP Working Group members present:
Jonathan Berg, MD/PhD, FACMG; Ned Calonge, MD, MPH, chair; Doug Campos-Outcalt, MD, MPA; Ben Djulbegovic, MD; Ted Ganiats, MD; Roger D. Klein, MD, JD; Don Lyman, MD, DTPH; Ken Offit, MD, MPH; Stephen Pauker, MD, MACP, FACC, ABMH; Margaret Piper, PhD, MPH; Sue Richards, PhD, FACMG; Ora Strickland, PhD; Sean Tunis, MD, MSc; Marc Williams, MD, FAAP, FACMG; and Doris Zallen, PhD
Welcome and Opening Statement
Ned Calonge welcomed all the attendees and requested each of the attendees to introduce themselves and tell their favorite book.
EGAPP and OPHG Update
Muin Khoury provided an update on the ongoing and upcoming projects for OPHG and EGAPP. He welcomed the 4 new members of the EWG: Jonathan Berg, Cecile Janssens, Marc Williams and Doris Zallen; and thanked the departing members from 2011: Al Berg, Nancy Fisher, Jim Haddow, Dave Veenstra and Don Lyman. There are a few gaps to fill in the EWG membership including expertise in chronic disease and pharmacogneomics/economics recruitment.
The Genomics Stakeholder Consultation Report 2011 said that Evidence Review Process was a priority.
A meeting with Muin Khoury and the CDC director resulted in interest in EGAPP and its processes and outputs.
The EWG discussed the roles of NHGRI for binning of Whole Genome Sequencing.
The OPHG 2012 budget is still not finalized; however, the core staff will remain through the year.
EGAPP Moving forward
- Finishing existing topics
- Binning whole genome sequencing
- Unique EGAPP collaborations with USPSTF recommendations that mention family history/genetics
Using NCI connections, the EWG would like to pursue a project on CRC screening as a first example step.
Intro to CRC Project
Eric Feuer presented an overview of CISNet, a collaborative cooperative agreement, which uses surveillance data and simulation model to guide public health. Understand the impact on screening, treatment and prevention on current and future trends in incidence and mortality.
Five Tenets of CISNet modeling
- Flexible broad based disease models
- Multiple birth cohort modeling
- Comparative modeling
- Transparency in Model structure and assumptions
- Outreach and Collaborations
Ann Zauber presented an outline of CISNet colorectal cancer modeling groups.
- MISCAN, SimCRC and CRC-Spin
- Micro-simulation modeling to inform health policy in order to reduce colorectal cancer mortality
- Screening Guidelines for CRC
The limitations of modeling, background for Familiar Risk Modeling and family history were discussed.
- Surrogate for genetics
- SNPs link to particular type of natural history
Dave Dotson welcomed the new EWG members and provided a brief overview of the current status of various EGAPP projects. These updates include a review of current evidence reviews and recommendations underway, web site statistics and updating reviews for National Guidelines Clearinghouse (due December 2012).
The FY2012 Activities will be focused on: submitting the methods update and lessons learned manuscripts, WGS binning, updating reviews, peer review and recommendations for T2D and KRAS, and potential recommendations for fecal DNA, CYP clopidogrel, PCA3/prostate cancer & Prostate cancer SNPs.
The CYP450/SSRI evidence review will be updated and additional work on the next 3 previously published reviews will begin before September 2012.
Whole Genome Sequencing
Katrina Goddard presented an overview “binning approach for incidental findings for Next Generation Sequencing. The focus of the presentation was “what is binning” and included: Incidental Findings/screening context, clinical context, condition, gene and variant context, and audience context.
The Evaluation Categories for binning approach (from Berg 2011) were discussed include: clinical utility, penetrance and variants of unknown significance.
Dave Dotson presented the results of updating the CYP450/SSRI Recommendation statement. Originally published in December 2007; needs to be updated this year to remain on the National Guidelines Clearinghouse web site.
Using the EPC search strategy, an updated new search strategy with data from November 2005 forward was developed. Using the EPC exclusion criteria; abstract screening was done and an exluded/include abstracts lists were created.
The excluded list included articles with the following characteristics:
- Outside scope: 151
- Invitro, cell line or animal studies: 38
- Single case reports: 18
- Children: 5
The included list included articles with the following characteristics:
- No abstracts: 34
- DDI: 32
- ADR: 11
- Clin. Response: 13
- SSRI level: 33
- Rx Decision: 1
- Choice/Dose: 0
Primary questions for EWG:
- Do the search methods need adjustment?
- Comments on search and/or binning strategy
- Replication/agreement needed
- What are the next steps?
- Full article review
- What will be the recommendation update format?
- Genetics in Medicine publication?
- Post on egappreviews.org only?
- Submit only to National Guidelines Cleasringhouse (NGC)?
Prostate Cancer SNPs Review
Dave Dotson gave an update on Prostate Cancer SNPs review draft currently. He reviewed the article search and inclusion/exclusion articles. The key questions and conclusions were reviewed.
Type 2 Diabetes review/recommendation
Michael Douglas gave an update on the type 2 diabetes review/recommendation drafts. The EWG requested the review undergoes the original peer review process.
CAP Proficiency Testing Program: KRAS/BRAF
Roger Klein presented information on the CAP proficiency testing Program for KRAS/BRAF testing. The survey started in 2009 with 2 challenges per year. The KRAS accuracy percentage ranged from 89.1-100 in 193 participants in the last year. The BRAF accuracy percentage ranged from 98.2-100 in 3 challenges in the last year.
The KRAS and BREF testing methods include: kits, PCR allele-specific, fragment analysis, melting curve analysis, pyrosequencing, sanger sequencing, SSCP and other PCR types.
Closing Statements and Adjourn
Ned Calonge presented thoughts for potential EGAPP products (position papers):
- P4 paper from Ben; EGAPP position, if any?
- Best practices; EGAPP position, if any?
- Disconnect in test packaging and marketing and actual use; EGAPP position, if any?
An area for improvement in EGAPP methods would be in calculating the numbers to screen in AV, CV and CU needed to test to get a positive result.
Ned Calonge thanked all the EWG members, KSC and Staff for their participation in the meeting. The meeting was adjourned at 12:30pm.
The next EGAPP Working Group Meeting is scheduled for Monday & Tuesday,
May 7 -8, 2012 in Atlanta, GA.