A Reflection on the NSGC 2018 Annual Conference

By Daniel Luksic · Nov 2018

Last week, as a first-time attendee of the NSGC annual conference, I was struck by how consistently one theme surfaced across different sessions: uncertainty — and how genetic counselors must not only counsel patients on it, but navigate it themselves in their clinical practice.

VUS: The Most Frustrating Uncertainty

A testing company representative encouraged genetic counselors to research VUS results themselves — not to contradict the lab report, but to educate themselves so they can speak to patients more concretely. In the clinic, the GC has access to family history, medical records, and clinical presentation that the lab doesn't have. Sharing those clinical impressions with the lab can be an important step toward reclassification.

New Techniques, New Uncertainties

RNA functional studies can lead to VUS reclassification — but new approaches introduce new questions. A panel discussion on mosaicism found that 15% of cases called de novo had a mosaic parent, and that recurrence risk for siblings is around 6% in those cases. No guidelines yet exist for how clinicians should handle this. DTC genetic testing was a major source of uncertainty in clinical practice discussions — counselors described clients arriving with 23andMe results and fundamental misconceptions about what was tested, what a negative result meant, and what the results could and couldn't tell them about their health.