What Genetic Counselors are Talking About
Last week, I attended the National Society of Genetic Counselors (NSGC) Annual Education Conference in Boston. Although I attended talks on a variety of subjects, where possible I chose sessions focused on new genomics technologies and associated issues. There were some common threads tying these discussions together beyond ‘genomics’ itself. Here’s a quick summary of some of the things I observed and learned.
1. Secondary, Ancillary, Incidental – Oh my!
It is no surprise that discussions around the use of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) universally include the question of what to do with the “extra” data—those pieces of information we weren’t looking for, but happened to find. What was surprising are the differences in the terminology we use to describe these extra pieces of data. Jessica Everett, a GC from the University of Michigan Mi-OncoSeq project explained that confusion over this terminology lead her team to decide that they would universally refer to an incidental finding as an unintended piece of information that “falls into your lap” and a secondary finding is extra information you end up finding out, but have to look for.
There are likely some official definitions and designations that already exist here. But it is apparent that we as a GC community currently don’t have a consensus on the nomenclature around this issue.
2. GCs don’t need new skills, but rather need to apply our skills in new ways.
This type of thinking is music to my ears—I love the challenge of applying our skills in new and unique ways. The GC role in pharmacogenomic testing specifically was a sub-theme here. I heard multiple genetic counselors who work in the realm of pharmacogenomic testing say that while they initially believed their role with patients undergoing testing for pharmacogenomic purposes would be minimal, the applicability of our traditional skills and opportunity to provide value to both patients and physicians was far greater than they anticipated.
3. “Scalability” of the Genomic counseling session
The sheer volume of information and amount of time required to consent patients for WES/WGS technologies was routinely cited as a barrier to genetic counseling in the genomic era. In some cases, GCs plan for a 2+ hour pre-test counseling session, and in most cases there are multiple visits or contacts before testing is initiated. There was also alot of discussion about how best to inform patients about the various types of information that can be learned through genome sequencing technologies. Bioethicist Scott Kim (also from the Mi-OncoSeq project) made a good case for a ‘flexible default’ model for informed consent in these situations.
Consistently GCs commented that when asked ‘do you want to know everything?’ patients and research participants will almost always reply ‘yes– of course I want to know everything!’ However, the use of specific scenarios or examples seems to be required in order to elicit a more meaningful discussion about potential results, and what information patients will decide to opt out of receiving. (This is a topic I’ve previously written about.)
Although this may be the least exciting or surprising underlying theme, it is likely the most important. Almost every lecture concluded with a slide highlighting the importance of a collaborative and multidisciplinary approach to genomic testing.
As always, I’d love to hear about others’ reactions and impressions from this year’s AEC. Please feel free to share, below.