Monday, February 21, 2011

Collaborative Genetic Services Summit

Below is a guest post from Angela Trepanier, Past President of NSGC and former Treasurer of the Genetic Counseling Foundation.

How often have you heard that there are not enough genetic counselors to provide the genetic counseling services needed? How often have you heard about the importance of other health care providers getting involved in genetics services so that consumers have adequate access? Have you figured out an effective way to triage genetics services with other providers in your community? Have you dealt with the consequences of ineffective triage- clients having the wrong genetic tests or being inadequately informed about genetic risk? What can the NSGC do to help genetic counselors develop successful strategies for triaging services while avoiding the ineffectual ones?

To address these issues NSGC is hosting a Collaborative Genetics Services Summit in mid-to-late summer 2011. Using funds raised by the now dormant Genetic Counseling Foundation*, the NSGC will bring together genetics professionals, nurses, physician assistants, primary care and specialty physicians, pharmacists, industry representatives, advocates, and other relevant stakeholders to develop competency and evidence-based models for integrating genetics and genomics into health care. Physician assistants and nurses were chosen specifically because each group has already developed competencies related to genetics/genomics. The primary outcome of the Summit will be a consensus model(s) for triaging genomic services which can be applied practically in the clinical setting to increase appropriate access to these services. A potential secondary outcome is identification of important gaps in evidence and in the genetics competencies of various health care providers needed to support the model.

Draft triage models for five genomic indications will be developed by multidisciplinary Work Groups, under the direction of and with input from the project’s Investigators and Advisory Committee. The indications include: 1) High-throughput population-based carrier screening; 2) Cancer genetic risk assessment and testing using Lynch syndrome tumor tissue screening and testing as a model; 3) Pharmacogenomic testing; 4) Diagnosis of a congenital syndrome through full genome sequencing in the newborn period; and 5) Genomic profiling. These indications were chosen because they are representative of the majority of services that are currently offered or will be offered in the future through full genome sequencing.

Once developed, the draft models will then be vetted by a larger audience of stakeholders at a one and one half day Collaborative Genetics Services Summit in Washington D.C. Feedback from the Summit will be incorporated and a draft white paper with the proposed triage model(s) will be written. The paper will be disseminated to key professional and advocacy organizations for review. Additional modifications may be made based on feedback, and a manuscript that delineates a model triage plan(s), including limitations and barriers to implementation, will be submitted for publication and distribution in 2012. The Investigators, with input from the Advisory Committee, will then begin to develop plans for a second phase of the project that will address identified barriers to implementing the model triage plan. More detailed information about the Summit will be available in the spring issue of Perspectives.

The NSGC’s vision is to integrate genetics and genomics to improve health for all. We think that the outcomes of this project could be an important step in achieving this vision and that genetic counselors, are the professionals best suited to pull together this collaborative effort.

*The GCF has been placed in a dormant state in 2011 and beyond. This means that all active fundraising will halt. However, the Audrey Heimler Special Projects Fund and George Tiller Memorial Fund will remain under the GCF, so donors who wish to continue making tax-deductible donations can do so. In the event that an organization wishes to make a large donation toward the Summit or another future NSGC project that requires tax-deductible status, the GCF would still exist to accommodate the donation.