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Workings of an Evidence-Based Genomic Panel

Categories: evidence-based medicine, genomics

Michael P. Douglas, Office of Public Health Genomics, Centers for Disease Control and Prevention

Synopsis of the 24th Meeting of the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group

EGAPP logo

The EGAPP working group (EWG) has held 24 meetings in the 7 years since they were first convened; the latest EGAPP meeting was May 7-8, 2012 on the campus of CDC in Atlanta. Since it is often difficult for interested parties to attend EGAPP meetings, either due to travel or scheduling reasons, we have decided to institute a regular blog to follow each of these meetings which we hope will keep you up to date on what and how EGAPP is doing.

In addition to their traditional guideline development projects, the EWG is increasingly becoming involved in broader collaborative efforts to help shape the future of genomics in public health. The meeting kicked off with presentations by members of CDC’s Laboratory Science, Policy and Practice Program Office regarding their work on analytic validity aspects of next generation sequencing. The EWG then discussed progress from their ongoing work outlining methods and considerations for “binning” findings from whole genome sequencing (WGS) tests. This project was inspired by a recent paper in Genetics in Medicine, and is being conducted by investigators at their Knowledge Synthesis Center with regular input from EWG members. The ultimate goal is to facilitate informed decision-making about what information should be returned from a test according to individual clinical scenarios. A publication on the work is expected later this year.

In addition to their work on WGS binning, EGAPP is pursuing collaborative efforts with NCI/CISNET and other groups, involving modeling activities within the sphere of colorectal cancer (CRC). This was a major topic of discussion at the latest EGAPP meeting, and monthly telephone conferences are being implemented to further the discussion and hopefully get down to modeling.

Nevertheless, EGAPP maintains a firm footing in the evidence-based guideline development arena.  A presentation on an evidence report on SNP panels for prostate cancer risk assessment, conducted through the AHRQ Effective Health Care Program (EHC), was given at the meeting and the EWG began writing a recommendation statement on this topic. A draft EHC evidence report on PCA3 testing in the diagnosis and management of prostate cancer was just released for comments on May 7th, and the EWG will be considering a recommendation on that topic at their next meeting. The EWG is also eagerly looking forward to release of a draft evidence report on CYP2C19 testing to guide antiplatelet treatment, also being done through the EHC, in hopes that the results will support development of a recommendation statement on that topic as well.

The lion’s share of the second meeting day was devoted to finalizing draft recommendation statements on risk assessment for type 2 diabetes, and testing for KRAS, BRAF and other markers involved in EGFR signaling, in relation to choosing therapies for people with metastatic CRC. A great deal of progress was made, and each of these recommendations is expected to be submitted for publication within the next month or so.

Day two also included time for reviewing progress on literature searches, conducted by staff at CDC Office of Public Health Genomics, which may be used to update or affirm their 2007 recommendation statement addressing testing for CYP450 alleles among patients with nonpsychotic depression who are being considered for treatment with selective serotonin inhibitors (SSRIs). Abstracted versions of this, and all EGAPP recommendations published to date, are hosted in National Guideline Clearinghouse which requires that guidelines be updated or reviewed at least every 5 years.

Beyond work on specific projects, some consideration was given to “big picture” planning for the direction of EGAPP. The EWG currently consists of 15 members, and nominations are being accepted for two new members to be selected in 2012. Areas of expertise that are highly sought are in pharmacogenetics for one, and public health for the other new member. The working group discussed the possibility of foregoing pharmacogenetics as a focus area for future topics, and instead adding two new members with strong public health experience, thus allowing them to more depth to address major public health issues in genomics such as screening and disease prevention. The decision on areas of expertise to be sought in the two new members will be left to the EGAPP steering committee, who will be conducting the actual selection process this summer. We look forward to welcoming 17 EWG members to Atlanta on September 10-11, 2012 for the 25th EGAPP working group meeting. 

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