Available on the American Society of Human Genetics' education resources is a CSER-developed Guide to Interpreting Genomic Reports, a just-in-time resource for non-geneticist physicians when receiving a genomic test report. This Toolkit's work was led by Sharon Plon from Baylor and Kelly East from HudsonAlpha, with support from the CSER Practitioner Education working group.
CSER April 2016 In-Person Meeting
CSER convened for its April 2016 In-Person Meeting on April 25th & 26th in sunny Seattle, Washington. This general meeting was attended by over 80 investigators, clinicians, genetic counselors and research staff, who discussed a variety of challenges and successes with integrating genomics into the clinic. During this two-day meeting, specific site projects and numerous scientific sessions were featured to highlight the valuable research coming out of CSER.
The scientific sessions were thematically anchored to the CSER Working Groups (WGs). For example, during a session on integrated clinical tumor sequencing, CSER Tumor WG member Levi Garraway discussed the challenges that were faced in the process of doing tumor sequencing at the Dana-Farber Cancer Institute. These challenges include the need to sequentially test a tumor and that most identified mutations are rare. A separate scientific session on the topic of clinical sequencing technologies featured CSER Sequencing Standards WG co-chair Donna Muzny, who offered a glimpse into the utility and implementation of long read technologies for the future of genome and exome sequencing. The CSER Electronic Health Records (EHR) WG led a scientific session on EHR integration opportunities, where member Patrick Mathias presented a cost analysis of implementing clinical decision support (CDS) rules. This EHR session concluded with a panel discussion from numerous CSER EHR WG members describing their experiences with integrating genomic information into the EHR, the broad challenges sites will face through CDS implementation, and hypothesized resolutions in tackling such challenges.
Another featured highlight of the CSER April 2016 meeting was a session on carrier results and its implications for research and clinical integration. The return of carrier results has numerous ethical, legal and psychosocial implications (ELSI) for individuals and families. These ELSI issues complicate the return of carrier status results in both clinical and research settings. Four presenters (left) explored this topic. CSER investigators Benjamin Wilfond from Kaiser Permanente and Kelly East from the HudsonAlpha Research Institute discussed observations and learning points regarding the primary and secondary return of carrier status results from the CSER projects they conduct. These observations included the logistical challenges of returning results in a timely manner to families who are planning to have children in the immediate future and how individuals have differing preferences to what carrier results they receive. This work helps inform the development of clinical, exome-based carrier testing, a topic that University of Washington CSER investigator Michael Dorschner discussed in detail. Finally, CSER investigator Susan M. Wolf from the University of Minnesota contextualized carrier testing research within the larger ELSI issues surrounding carrier testing by describing how the status of carrier testing has changed over time.
CSER’s promising research is continuing as each site continues to analyze the large amount of data that has been collected to evaluate the effectiveness of integrating exomes and genomes into clinical care. Although our April 2016 meeting has concluded, we will meet again in the Fall 2016 to continue discussing this valuable work.