Genetic Counseling, Ethics, Patient Education SIG Meeting
Lynn Bush, PhD, MSBE, MA
Co-Chair, Genetic Counseling, Ethics, and Patient Education Special Interest Group
On behalf of the Genetic Counseling, Ethics, and Patient Education SIG, I want to thank Katie Ellis for being Genetic Counseling SIG Co-Chair for the past four years, the latter two Co-Chaired with bioethicist Lynn Bush when Genetic Counseling, Ethics, and Patient Education combined into a single SIG.
We extend a warm welcome to new SIG Co-Chair, Genetic Counselor Samantha (“Sam”) Stover, who will serve a term of up to four years, the first two with Lynn. Sam is a Reproductive Genetic Counselor in the Division of Maternal Fetal Medicine and Assistant in Obstetrics and Gynecology at Vanderbilt University Medical Center. She has a Bachelor’s of Science in Zoology from North Carolina State University and a Master’s of Science in Genetic Counseling from The University of Alabama at Birmingham School of Health Professions. She received her board certification from the American Board of Genetic Counseling in 2014. Sam has over a decade of experience providing genetic counseling for patients across the reproductive genetics arc, with a special interest in fetal anomalies, reproductive and disability rights, and prenatal diagnosis. She lives in Nashville with her husband, two boys, a dog, and a snake. Sam notes: “You can follow Banana on Instagram (@factsss_with_banana).”
Our SIG educational breakfast considered the theme: "Navigating the Landscape of Language: How do we interpret roses with thorns?” with diverse attendees engaging in rich discussion with panelists April Adams, Jane Fisher, Dora Mayen, Mark Pertile, Asha Talati and SIG co-chairs/moderators Lynn Bush and Katie Ellis. Panelists shared case exemplars that evoked reflection and insights from fellow panelists as well as the audience. Highlights included parent-panelist Jane Fisher illustrating why it is critical to have a parent sitting at the proverbial table/dais. Dora Mayen, from Mexico, reminded us that much of the world does not have access to genetic counselors, and that “genetic counseling” is typically provided by physicians, a reality in many regions of the U.S. This was poignantly echoed by clinical providers April Adams, as experienced in Texas, as well as Asha Talati, regarding practice in parts of North Carolina. Attendees were further enriched by Mark Pertile showing us in real-time the importance of ongoing conversations between laboratory professionals and clinical teams who too infrequently exchange perspectives.
The cases presented and discussion that ensued centered on why the words we choose for communication of pre/perinatal screening, diagnosis and therapy are impactful. Words and the tone of our language shape, and perpetuate how individuals (be they the pregnant person, their family, or the professional) construct reality—and they impact our feelings. Our language needs to evolve sensitively, mindful of ableness and transparency without minimizing “seriousness,” which is arguably value-laden. Some examples provided for potential modification were from “patients” to “individuals” or “seriously-ill individuals” rather than “terminally ill.” Others noted changes in language to better frame describing fetal characteristics developing into future pediatric presentations as evolving from “XYZ condition patient” to “person with XYZ condition” and not referring to a potential child who will be “wheelchair bound” or “confined /constrained to a wheelchair," but instead as a potential child who will “use a wheelchair to move around.” It was clear throughout the SIG breakfast discussion that words matter and we ought to be mindful of our word choice, and the intention, with non-judgmental view.
Because of the timing of our SIG breakfast, we now take the opportunity to consider the influence of prenatal innovation shifting our language by illuminating a newly reported technique opening up interventional possibilities that move us from “symptom reduction” to “prevention.”
Transuterine Ultrasound-Guided Fetal Embolization of Vein of Galen Malformation, Eliminating Postnatal Pathophysiology
Stroke. 2023;54:e231–e232. DOI: 10.1161/STROKEAHA.123.043421
June 2023 e231
Darren B. Orbach , MD, PhD; Louise E. Wilkins-Haug, MD, PhD; Carol B. Benson , MD; Wayne Tworetzky , MB, ChB; Shivani D. Rangwala, MD; Stephanie H. Guseh, MD; Nicole K. Gately , RN; Jeffrey N. Stout , PhD; Arielle Mizrahi-Arnaud, MD; Alfred P. See , MD
Supplemental Material is available at https://www.ahajournals.org/doi/suppl/10.1161/STROKEAHA.123.043421.
The podcast and transcript are available at https://www.ahajournals.org/str/podcast.
An excerpt from the abstract discussion:
“We report a novel ultrasound-guided transuterine, fetal cerebral embolization of vein of Galen malformation, resulting in complete elimination of the expected aggressive postnatal natural history. This approach represents a paradigm shift in management of this challenging condition, from a strategy focused on reversing severe multiorgan pathophysiology after onset, to one focused instead on prevention via embolization in utero.”