Elisheva Dubin, MS, CGC; Claire Jones, MS, CGC; Misia Kowanda, PhD, MSc, CGC; Emily Palen, CGC, MS
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).
Article authored and provided by Simons Searchlight as part of a paid partnership with NSGC. The content, views and opinions expressed in this article are those of the authors, and do not necessarily reflect the opinions and views of the National Society of Genetic Counselors.
From Uncertainty to Understanding
The diagnostic process is often described as a marathon, with years of testing, waiting and uncertainty. When a genetic diagnosis finally arrives, it can feel like the finish line for both providers and patients, but it’s often just the beginning. Although the diagnosis provides an answer, it rarely offers a complete roadmap for ongoing care or prognosis.
For many rare genetic neurodevelopmental conditions, questions remain long after the initial result. "How will my condition progress? What should I anticipate? What interventions might make a difference?”
That’s where longitudinal natural history registries like Simons Searchlight come in. As an online research program following individuals and caregivers affected by rare genetic neurodevelopmental conditions, Simons Searchlight transforms lived experience into longitudinal data that informs both clinical understanding and research advancement.
Why Longitudinal Research Registries Matter
After the diagnostic odyssey, the search for evidence-based guidance continues. Longitudinal registries like Simons Searchlight collect standardized data over time to capture how genetic conditions unfold, identifying patterns, trajectories, and potential intervention windows.
These rich datasets can support clinical trial readiness, natural history studies and genotype-phenotype correlations that improve clinical counseling and patient management.
In partnership with the Simons Foundation Autism Research Initiative (SFARI), Simons Searchlight provides deidentified, high-quality data and biospecimens to qualified researchers worldwide, facilitating reproducible research and accelerating discovery.
Importantly, connecting families to these research resources often begins with that first post-diagnosis conversation, where genetic counselors play a pivotal role.
The Role of Genetic Counselors
Genetic counselors are often the first professionals that patients turn to after receiving a diagnosis, asking, "What happens next?" For many rare conditions, the evidence base remains limited, making it difficult to provide clear anticipatory guidance.
By referring families to research registries such as Simons Searchlight, counselors help bridge the gap between diagnosis and ongoing understanding. Registries provide participants with access to updated information as they contribute longitudinal data that benefits the entire field.
Simons Searchlight also develops educational materials and condition-specific guides to help families interpret evolving research. These tools support counselors in delivering accurate, up-to-date information without the burden of independently tracking every discovery.
Support From Simons Searchlight Genetic Counselors
Simons Searchlight employs a team of certified genetic counselors who serve as scientific translators and participant support advocates. They interpret genetic results, clarify variant classifications, and ensure that research updates are communicated in accessible ways to both clinicians and families.
Their expertise shapes the genetic condition pages and registry summaries, which include curated literature reviews and aggregated findings on features such as epilepsy, intellectual disability, autism and ADHD.
In addition, the team produces clinical and educational resources that help to clarify the relationship between a clinical diagnosis and a genetic diagnosis, a distinction that informs both patient care and research participation.
As Misia Kowanda, PhD, MSc, CGC, explains:
"Access to genetic testing for the neurodevelopmental community provides answers and guides next steps for individuals and families, impacting potential treatment options and research participation. Simons Searchlight has the responsibility to share learnings and medical information for a better understanding within the global medical and patient community. The more individuals share their data and experiences with us, the more we can share back to advance insight and improve lives."
Community and Partnership for the Future
Although Simons Searchlight engages directly with families, its impact extends across the professional community. Through partnerships with clinicians, researchers and patient advocacy groups, the registry has enrolled more than 8,000 individuals worldwide. This large-scale collaboration enables data sharing that strengthens both clinical counseling and scientific discovery.
Each new participant contributes to a deeper understanding of rare genetic neurodevelopmental conditions, helping clinicals move from anecdotal insights to evidence-based patterns.
Longitudinal registries like Simons Searchlight exemplify how coordinated data collection, researcher access, and clinical collaboration can transform the post-diagnosis experience into actionable knowledge for the entire field.
Together, families, researchers and genetic counselors are turning uncertainty into understanding — one update, one survey and one shared discovery at a time.
Learn more at www.SimonsSearchlight.org.
Elisheva Dubin, MS, CGC Dubin graduated from Sarah Lawrence College with a master's in human genetics and genetic counseling. Upon graduating, Dubin worked in numerous fields of genetics including but not limited to oncology, carrier screening and cardiology. As she explored a diverse set of specialties, she discovered her passion was connecting with individuals in the neurodiverse community.
Claire Jones, MS, CGC Claire Jones graduated from King’s College with a Bachelor of Science degree in biology with a minor in mathematics in May 2018. She then attended the Virginia Commonwealth University (VCU) for her Master of Science in genetic counseling and graduated in May 2022. She also completed the Va-LEND (Virginia Leadership Education in Neurodevelopmental Disabilities) interdisciplinary program, which is committed to the preparation of professionals, family members and individuals with disabilities in childhood neurodevelopmental disabilities. Jones joined the Simons Searchlight team in 2025 as a genetic counselor, working on variant interpretation and helping families understand their genetic testing results. While not working on Simons Searchlight, Jones currently works as a clinical genetic counselor in an adult neurology clinic and previously worked in a neurodevelopmental pediatric clinic.
Misia Kowanda, PhD, MSc, CGC Kowanda graduated from McGill University with a PhD in biology, where she was focusing on molecular biology and genetics, with the humble fruit fly being her model organism. Before she went on to get a master’s degree in genetic counseling from Sarah Lawrence College, she worked on a natural history study for individuals with peroxisomal biogenesis disorders. Her genetic counseling master’s project focused on environmental exposures of people with Leber hereditary optic neuropathy.
Emily Palen, CGC, MS Palen graduated from Hamilton College with a bachelor’s degree in neuroscience and a minor in English in 2014. She then went on to receive her master’s degree in genetic counseling from Boston University in 2016. She worked at Geisinger’s Autism and Developmental Medicine Institute from 2016-21 and then Bionano Laboratories until she joined the Simons Searchlight team in the fall of 2024. She is passionate about translating complex genetic information into accessible and useful information for families of individuals with neurodevelopmental differences.