P475: "It's a minefield": Ethical considerations emerging from a large craniofacial genetics rare disease initiative

The Children’s Rare Disease Collaborative (CRDC) was founded in 2018 to unite physician-scientists and research teams across Boston Children’s Hospital to investigate genetic contributors to rare diseases and translate discoveries into research-informed care. The craniofacial branch of the CRDC offers no-cost-to-patient exome and genome sequencing to investigate diagnoses including craniosynostosis, cleft lip/palate, Tessier clefts, microtia, craniofacial morphea, and micrognathia. With over 300 patients and families currently enrolled (as of 11/2025), and more than 30 having completed initial genetic assessment, numerous ethical challenges have emerged, prompting reflection to establish a framework for addressing these issues prospectively.