Five reflections from the FamilieSCN2A Annual Family and Professional Conference

FamilieSCN2A. On July 21-23, the FamilieSCN2A Foundation had their Family & Professional Conference in Boston. Having gone to the conference for the past several years, it is truly remarkable to see the changes over time. Here are five key changes I’ve noticed at this year’s event.

Picture 1. Logo of the FamilieSCN2A Foundation.

1 – Clinical trial readiness. The SCN2A community, and the epilepsy genetics community in general, has long been ready for clinical trials. I mean this both in the sense that the families and scientists have been making sure that patient data are collected and organized so that when interest from a group developing a therapy came along there would be a rich dataset to use, but also in the sense that there have been almost 20 years since SCN2A was first described in epilepsy and we’re just now getting to the space where targeted therapies are within reach.

During the conference, there was a segment on how to have conversations with medical providers about discussing the pros and cons of clinical trial enrollment. These conversations are no longer hypothetical, they’re happening now!

2 – Gain-of-function and loss-of-function. The functional consequences of variants in SCN2A is a key area of interest, particularly in this era of precision medicine. There are general concepts that seem relatively clear, such as the age of seizure onset being an easy way to delineate between clinical subgroups. But, as more individuals get genetic testing and, in parallel, as more variants are functionally characterized, there is clearly a lot more nuance to the phenotypic consequences as they relate to the functional consequences of SCN2A variants. Even in thinking about loss-of-function missense variants, which are most commonly caused by absent or reduced peak current, there can be a wide spectrum of presentations. As is typical with proposed categories for phenotypes, the spectrum is outgrowing the boxes we may have initially put patients into.

3 – Equal footing. The conference was structured such that each section of talks from researchers was started with a family presenting their story, from the birth of their child through diagnosis to present day. Families were sitting at tables with the most prominent researchers and scientists in the field. This is how scientific progress is made – partnership between families and scientists. Everyone has a seat at the table and unique perspectives to move the field forward.

4 – Genetic counseling in rare disease. Coming to these conferences is one of my favorite parts of being a genetic counselor in the rare disease space. Being able to talk with families outside of the confines of a clinic room or a MyChart messaging system means that we all get to sit around the same table and learn from each other on equal footing. The American healthcare system is not designed to have these types of interactions and is really designed for patients to gain information from their healthcare team. This piece of patient care is extremely important, but it falls short of what is really needed. Hearing the lived experiences from patients and families themselves and how the diagnosis fits into a family’s overall life is a huge part of what it means to have a genetic condition, and it helps me as a clinician and as a person to focus on what is really important in being a part of their team.

5 – Integrity. During the conference each year, the FamilieSCN2A Foundation awards scientists and researchers who embody the core values of the foundation – urgency, integrity, collaboration, and inclusion. This year I was honored to receive the award for integrity. The award is presented at the end of the first day of the conference, where we begin by remembering the children who passed away from their SCN2A-related disorder. This is truly a stark reminder of the progress that is needed. Being highlighted alongside other scientists and researchers who are moving the field forward to make that progress is truly an honor for me. I’m so grateful for the opportunity to be a part of this community and work towards increased diagnosis and improved treatment.

I would like to thank the whole team at the FamilieSCN2A Foundation for the opportunity to participate in the conference and look forward to continuing to work with the community!

Stacey is a licensed certified genetic counselor at the Children’s Hospital of Philadelphia.