The article below reflects the personal opinions of the author(s) and does not reflect the views or opinions of the Perspectives editors or committee, or the National Society of Genetic Counselors (NSGC).
As the fields of genetics, genomics and genetic counseling continue to grow and evolve, my hope is that genetic counselors play an ever-increasing role in bridging the gap between clinical knowledge and patient education and support.
As an Advocate with the Aicardi-Goutiere Syndrome Advocacy Group (AGSAA), I have had the opportunity to work with an amazing group of parents and caregivers who are dedicated advocates working alongside clinicians, researchers and scientists to improve the lives of people and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome (AGS).
If you have never heard of AGS, you are not alone. It is one of many rare diseases that is intimately known to the small group of people it affects, yet remains largely unrecognized by the world.1 More than 500 people have been described in the scientific literature, though given the clinical variability of AGS, many people are thought to be undiagnosed. Thus, the exact prevalence of the condition is unknown. Yet, this is a condition that spans genetic counseling specialties, from reproductive and pediatrics to adult and neurology.
What I’ve Learned as a GC at the AGSAA
As a brief introduction to the complexity of AGS, it primarily affects the brain, immune system and skin. However, it has extensive clinical variability that, until recently, has been largely undocumented in the literature.1 Symptoms are caused by inappropriate activation of the body’s immune system, making early diagnosis imperative so interventions and treatments can optimize prognosis.
Working with the parent leaders of the AGSAA has given me insight into the lives of those who live with rare diseases that I did not previously have as a reproductive genetic counselor of 23+ years. I have researched countless diseases and counseled families, from preconception to late pregnancy, about the signs, symptoms, testing and treatment for everything from Aarskog syndrome to Zellweger syndrome. While I could appreciate all that exists in those microcosms of delivering and receiving that information, actually living or caring for a loved one with a rare disease always remained abstract.
I’ve had the long-term belief that, regardless of what you end up doing professionally as a genetic counselor, you should always start your career in patient care. This is because, at the end of the day, what you do is for the patient; this applies to those who work anywhere, from inside a laboratory to on a product development team. Yet, working with the parents of the AGSAA has provided me with a deeper and more visceral understanding of genetics and its potential impact than I received as a patient-facing reproductive genetic counselor or in any of my other various roles.
5 Skills Genetic Counselors Can Offer Advocacy Groups
I encourage both genetic counselors and advocacy groups to reflect on the skills of those in this profession and the examples below to understand what we can bring to the advocacy table.
- Clinical Perspective: Genetic counselors' ability to offer detailed explanations of genetic conditions, inheritance patterns and the implications of genetic test results can empower patients and families to make more informed decisions about their health.
- Program and Product Management: The development of educational materials and resources tailored to both patients and healthcare providers can help in spreading awareness and providing accurate information to those affected by a genetic condition. Their skills in crafting trauma-informed resources can also provide emotional support and guidance.
- Networking Capacity: By building strong connections with healthcare providers, researchers and specialists in the field, genetic counselors can create a collaborative community focused on advancing research, treatment and care for specific genetic conditions.
- Financial Angle: Genetic counselors can play a crucial role in identifying funding opportunities and facilitating partnerships with academia and industry, which in turn can provide routes for genetic testing, research and clinical trials.
- Political Advocacy: Our expertise can be instrumental in advocating for better access to care, insurance coverage and policies that support the needs of individuals with genetic conditions.
My time with the AGSAA has been an unparalleled reciprocal learning experience. It has provided me with knowledge and perspectives that have contributed to my professional development. In return, I (hope to) have enhanced their mission of patient advocacy and support by leveraging my genetic counseling skills to strengthen the impact and better serve the needs of this community.
Genetic Counselors: Whether you practice in reproductive, pediatric, cancer or another genetic speciality, there is a community out there who can benefit from your skills.
Advocacy Groups: Reach out. Use us. And let’s work together.
References
- Liu A, Ying S. Aicardi-Goutières syndrome: A monogenic type I interferonopathy. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. PMID: 37515439.
Photo by Karina Vorozheeva on Unsplash
Shannon Wieloch, MS, LCGC has been a genetic counselor for nearly 23 years, mostly in the reproductive space. She is the founder of Stork Genetics, a private practice genetic counseling business aimed at providing easy access to trusted knowledge in order to empower patients throughout their genetic health journey. She also works as a paid advocate for the Aicardi-Goutiere Syndrome Advocacy Group in addition to as a consultant for numerous genetic-related companies.