A Reflection On the NSGC 2018 Conference

by Daniel Luksic

Last week, I was a first time attendee of the National Society of Genetic Counselors annual conference. This conference is held once a year and is a national assembly of those who work in the field of genetic counseling. Genetic counselors from all over the country, as well as the biggest names from the private industry side, were there to discuss the state of the field. Educational sessions at the conference covered a wide range of topics, but one theme I noticed in many talks was the concept of uncertainty, and how we as genetic counselors must not only counsel patients on it, but how we deal with uncertainty ourselves.

A test result coming back with a Variant of Uncertain Significance (VUS) is probably the most frustrating type of uncertainty for a patient to deal with. I attended a few talks on what we, as counselors, could do to try and interpret a VUS to a patient. A representative from one testing company advised us as genetic counselors to research these results ourselves; not so we can contradict the lab report, which includes exhaustive background research, but so that we can educate ourselves about the variant.

In the clinic, the genetic counselor has access to the patient’s detailed family history, medical records, and physical appearance. This can give the genetic counselor insights that the lab does not have. The company representative encouraged us to share our own impression of the report with them in the event that we have strong suspicions as to the effect of this VUS on our patient. Communicating what is known and what we suspect can be an important step in dealing with uncertainty.

Newer approaches to classification, like RNA functional studies, can lead to reclassification of some VUS results and give patients more accurate information about the effect of a variant. But new techniques can also lead to more uncertainty; as we learn about the potential role of mosaicism on inheritance we are sometimes left with fewer answers. A panel discussion about the role of mosaicism in apparent de novo mutations cited a recurrence risk of 6% for the same duplication in siblings. In 15% of all cases we would call de novo, one parent is found to be mosaic for the mutation. The counseling on inheritance for these types of findings may now involve not being able to say for certain if a future pregnancy is at risk. There are not yet any guidelines for how clinicians should address these issues, and we are left with an important job of conveying uncertainty.

Direct to Consumer Confusion

The newest and potentially fastest growing source of uncertainty in the field now is from the direct-to-consumer market. Panel discussions by affiliates of 23andMe and those involved in other direct to consumer testing featured much discussion of consumer uncertainty. As 23andMe develops newer products and reaches a wider audience, the need to educate their customers increases. I heard from counselors who consulted with clients who had 23andMe results and had to address many misconceptions. Anecdotally, there are people buying this product who are misinformed about what is being tested, how the testing is happening, what a negative result means, and the impact the results have on their health decisions.

The FDA recently announced in a recent public release that 23andMe had been cleared to sell a Pharmacogenetic Reports product which is marketed as a tool to inform the potential impact of our genes on the drugs we take. However, in the same press release the FDA also advises “health care providers should not use the test to make any treatment decisions.” The uncertainty of how to handle health information that should not be used for your health care is an issue that genetic counselors will have to educate clients about in the future.

NSCG this year was filled with brilliant talks by a host of the top minds in our field. The theme of uncertainty and how to deal with it was a big issue this year, and I expect it to remain that way as newer technologies and products become available to the public. Our job of providing information to our clients about the opportunities and challenges of managing their genetic health is likely to grow more difficult and nuanced, and we must be able to adapt, evolve, and thrive in this changing field.