用生成式AI辅助遗传专家分析全基因组数据，提升罕见病诊断效率。

Generative AI has the potential to transform knowledge work, but further research is needed to understand how knowledge workers envision using and interacting with generative AI. We investigate the development of generative AI tools to support domain experts in knowledge work, examining task delegation and the design of human-AI interactions. Our research focused on designing a generative AI assistant to aid genetic professionals in analyzing whole genome sequences (WGS) and other clinical data for rare disease diagnosis. Through interviews with 17 genetics professionals, we identified current challenges in WGS analysis. We then conducted co-design sessions with six genetics professionals to determine tasks that could be supported by an AI assistant and considerations for designing interactions with the AI assistant. From our findings, we identified sensemaking as both a current challenge in WGS analysis and a process that could be supported by AI. We contribute an understanding of how domain experts envision interacting with generative AI in their knowledge work, a detailed empirical study of WGS analysis, and three design considerations for using generative AI to support domain experts in sensemaking during knowledge work. CCS CONCEPTS: Human-centered computing, Human-computer interaction, Empirical studies in HCI Additional Keywords and Phrases: whole genome sequencing, generative AI, large language models, knowledge work, sensemaking, co-design, rare disease Contact Author: Angela Mastrianni (This work was done during the author's internship at Microsoft Research) Ashley Mae Conard and Amanda K. Hall contributed equally