本期节目邀请了临床和分子遗传学家Wendy Chung，深入探讨了遗传学的世界。节目首先回顾了人类基因组解码前的遗传学发展，并对比了全基因组测序等技术带来的新认知。Wendy详细介绍了不同类型的基因检测，如直接面向消费者、临床检测和全基因组测序等，并阐释了PKU、乳腺癌、肥胖症、自闭症和心血管疾病的遗传学基础。最后，节目深入探讨了基因治疗的现状和潜力，以及基因编辑的经济影响和伦理问题。

🧬 Wendy Chung博士分享了她对遗传学的兴趣和作为医生科学家的工作。她解释了苯丙酮尿症（PKU）的遗传学，这是一种罕见的遗传性疾病。

🔬 节目回顾了遗传学研究的演变，从DNA结构到全基因组测序。讨论了人类基因组计划带来的见解和惊喜，以及全外显子组测序和读取深度的重要性。

🧪 Wendy区分了各种类型的基因检测，包括直接面向消费者、临床检测和全基因组测序。她还讨论了乳腺癌的基因检测，以及直接面向消费者的检测（如23andMe和Ancestry.com）能提供的信息。

💉 节目深入探讨了基因治疗，包括其工作原理，以及针对泰-萨克斯病和脆性X综合征的两种不同的基因编辑策略。Wendy还探讨了肥胖症作为一种多基因疾病的遗传学，以及自闭症和心血管疾病的遗传学。

💰 最后，节目讨论了基因治疗的财务成本和经济考量，以及基因编辑的伦理问题。Wendy展望了临床遗传学的未来。

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Wendy Chung is a board-certified clinical and molecular geneticist with more than 25 years of experience in human genetic disease research. In this episode, Wendy delves deep into the world of genetics by first exploring the historical landscape of genetics prior to decoding the human genome, contrasting it with what we know today thanks to whole genome and exome sequencing. She provides an overview of genetic testing by differentiating between various genetic tests such as direct-to-consumer, clinical, whole genome sequencing, and more. Additionally, Wendy unravels the genetic underpinnings of conditions such as PKU, breast cancer, obesity, autism, and cardiovascular disease. Finally, Wendy goes in depth on the current state and exciting potential of gene therapy while also contemplating the economic implications and ethical nature of gene editing.

We discuss:

Wendy’s interest in genetics and work as a physician-scientist [2:45]; The genetics of phenylketonuria (PKU), a rare inherited disorder [5:15]; The evolution of genetic research: from DNA structure to whole genome sequencing [18:30]; Insights and surprises that came out of the Human Genome Project [28:30]; Overview of various types of genetic tests: direct-to-consumer, clinical, whole genome sequencing, and more [34:00]; Whole genome sequencing [39:30]; Germline mutations and the implications for older parents [45:15]; Whole exome sequencing and the importance of read depth [50:30]; Genetic testing for breast cancer [54:00]; What information does direct-to-consumer testing provide (from companies like 23andMe and Ancestry.com)? [1:01:30]; The GUARDIAN study and newborn genetic screening [1:06:30]; Treating genetic disease with gene therapy [1:18:00]; How gene therapy works, and the tragic story of Jesse Gelsinger [1:22:00]; Use cases for gene therapy, gene addition vs. gene editing, CRISPR, and more [1:28:00]; Two distinct gene editing strategies for addressing Tay-Sachs and fragile X syndrome [1:37:00]; Exploring obesity as a polygenic disease: heritability, epigenetics, and more [1:41:15]; The genetics of autism [1:48:45]; The genetics of cardiovascular disease [2:01:45]; The financial costs and economic considerations of gene therapy [2:06:15]; The ethics of gene editing [2:12:00]; The future of clinical genetics [2:21:00]; and More.

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