A planning committee of the National Academies of Sciences, Engineering, and Medicine will organize and conduct a public workshop to examine the role of genetic testing, from preconception through early childhood, on the health of children. The overarching goal of the workshop is to explore how genetic screening and diagnostic testing are currently applied from preconception through early childhood; to identify gaps and redundancies across these stages; and to consider how advances in technology, policy, and clinical practice could support a more integrated approach to genetic testing over time.
The workshop may include invited presentations and panel discussions to:
• Examine the current landscape and continuum of genetic screening and diagnostic testing across testing stages, including preconception, prenatal, postnatal, and pediatric settings, and explore how testing decisions are made over these stages, where approaches overlap or diverge, and why the existing continuum is experienced as disconnected by patients, families, researchers, clinicians, payers, and others.
• Discuss how advances in genetic technologies shaping genetic testing across preconception to early childhood, including emerging approaches such as genome and exome sequencing and testing of maternal cell free DNA, and consider different issues arising from diagnostic and screening purposes for testing related to access, coverage, and ethical, legal, and social considerations.
• Explore opportunities to reduce silos across clinical specialties and testing stages, including the transition between obstetric and pediatric care, and consider how genetic information generated at one phase of life could inform screening, diagnosis, or care at other stages.
The planning committee will organize the workshop, develop the agenda, select and invite speakers and discussants, and moderate or identify moderators for the discussions. Proceedings-in brief of the presentations and discussions at the workshop will be prepared by a designated rapporteur in accordance with institutional guidelines.