遗传学专家Wendy Chung在本次访谈中深入探讨了遗传学的过去与现在，详细介绍了基因测试的种类及全基因组测序，并揭示了PKU、乳腺癌、肥胖、自闭症和心血管疾病的遗传基础。她还全面讨论了基因治疗的现状与潜力，以及基因编辑的经济影响和伦理问题。

🔬Wendy Chung拥有超过25年的人类遗传疾病研究经验，她首先回顾了人类基因组解码前的遗传学历史，并与现代的全基因组和外显子测序知识进行了对比。

🧬Wendy详细区分了各种遗传测试，包括直接面向消费者的测试、临床测试、全基因组测序等，并讨论了这些测试的重要性。

🏥Wendy深入探讨了PKU、乳腺癌、肥胖、自闭症和心血管疾病的遗传机制，以及基因在这些疾病中的作用。

💡Wendy全面介绍了基因治疗的当前状态和未来潜力，包括如何工作、治疗遗传疾病的案例以及CRISPR等基因编辑技术的应用。

🤑Wendy还考虑了基因编辑的经济含义和伦理问题，包括基因治疗的财务成本和临床遗传学的未来。

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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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