#268 ‒ Genetics: testing, therapy, editing, association with disease risk, autism, and more | Wendy Chung, M.D., Ph.D. | The Peter Attia Drive

Intro

In this episode of “The Peter Attia Drive,” host Peter Attia interviews Dr. Wendy Chung, a board-certified clinical and molecular geneticist and the new chief of pediatrics at Boston Children’s Hospital. They discuss the advancements in genetics testing, the role of genetics in various conditions, the potential of gene therapy, and the Guardian Study, among other topics.

Main Takeaways

Advancements in Genetics Testing

• Genetics testing has evolved significantly since the decoding of the human genome.
• There is a distinction between clinical genetic testing and commercially available tests like 23andMe and Ancestry.com.
• Genetics plays a role in a wide range of conditions, including PKU, breast cancer, obesity, autism, and cardiovascular disease.

Promising Field of Gene Therapy

• Gene therapy holds promise for treating genetic diseases, but it requires extensive research and has ethical implications.
• Dr. Chung is involved in the Guardian Study, which aims to improve newborn screening and early intervention for genetic disorders.
• Gene therapy has shown potential in treating conditions like maple syrup urine disease and propionic acidemia.

Understanding Phenylketonuria (PKU)

• PKU is a condition that can cause intellectual disabilities if not treated.
• Newborn screening and early intervention are crucial in preventing irreversible intellectual disabilities in children with PKU.
• A low protein diet is necessary for those with PKU, but not all protein sources are excluded.
• PKU requires lifelong dietary intervention, especially during childhood when the brain is developing.

Advancements in DNA Sequencing

• The process of DNA sequencing has evolved from manual and time-consuming methods to automated high-throughput techniques.
• Data sharing and collaboration have played a crucial role in advancing DNA sequencing and making data freely available.
• The speed of finding disease genes has drastically improved, with the first gene taking 8 years to clone and the last gene taking 8 hours.
• Sequencing the entire human genome has become more accessible and affordable.

Genetic Testing and Personalized Medicine

• Genomic tests look at all 20,000 genes in the genome, including both coding and non-coding regions.
• Genetic testing companies like 23andMe provide insights into ancestry and some health risks, but they are not medically targeted.
• Tests designed for medical purposes can answer specific questions about genetic conditions or cancer risk.
• Precision medicine is crucial for managing the heterogeneity of conditions like autism and providing personalized treatment plans.

The Guardian Study and Newborn Screening

• The Guardian Study aims to screen newborns for over 250 rare conditions using genomic uniform screening.
• The study utilizes the same dried blood spot used for PKU screening and sequences the genome to identify genes with immediate treatment options.
• About 74% of parents approached agree to participate in the study, showing a majority interest in ensuring a healthier child.
• The goal is to decrease the cost of sequencing one baby’s genome to $100 and automate more of the process.

Potential of Gene Editing

• Gene editing holds promise for fixing genetic variants and treating genetic diseases with high fidelity and ease.
• Gene editing can be used to treat conditions like sickle cell anemia and TAISACs.
• Delivery to the brain is challenging but necessary for treating certain conditions.
• Researchers are exploring alternative delivery systems to minimize risks and improve effectiveness.

Genetics and Conditions like Autism and Obesity

• Genetics plays a significant role in conditions like autism, with at least 100 genes associated with the disorder.
• Environmental factors and exposure beyond genes can also contribute to the development of autism.
• Obesity is influenced by both genetics and environmental factors, and understanding body weight regulation is crucial for developing treatments.
• Epigenetics, including DNA methylation, may play a role in the propagation of obesity across generations.

Summary

Genetics Testing and Gene Therapy

Genetics testing has come a long way since the decoding of the human genome. Clinical genetic testing is distinct from commercially available tests like 23andMe and Ancestry.com. Genetics plays a role in various conditions, including PKU, breast cancer, obesity, autism, and cardiovascular disease. Gene therapy shows promise for treating genetic diseases, but it requires extensive research and has ethical implications. Dr. Chung is involved in the Guardian Study, which aims to improve newborn screening and early intervention for genetic disorders.

Advancements in DNA Sequencing

The process of DNA sequencing has evolved from manual and time-consuming methods to automated high-throughput techniques. Data sharing and collaboration have played a crucial role in advancing DNA sequencing. The speed of finding disease genes has drastically improved, and sequencing the entire human genome has become more accessible and affordable.

Genetic Testing and Personalized Medicine

Genomic tests look at all 20,000 genes in the genome, providing insights into both coding and non-coding regions. Genetic testing companies like 23andMe offer ancestry information and some health risks but are not medically targeted. Tests designed for medical purposes can answer specific questions about genetic conditions or cancer risk. Precision medicine is essential for managing the heterogeneity of conditions like autism and providing personalized treatment plans.

The Guardian Study and Newborn Screening

The Guardian Study aims to screen newborns for over 250 rare conditions using genomic uniform screening. It utilizes the same dried blood spot used for PKU screening and sequences the genome to identify genes with immediate treatment options. The study has seen significant participation from parents, indicating a strong interest in ensuring a healthier child. The goal is to decrease the cost of sequencing one baby’s genome and automate more of the process.

Potential of Gene Editing

Gene editing holds promise for fixing genetic variants and treating genetic diseases with high fidelity and ease. It can be used to treat conditions like sickle cell anemia and TAISACs. However, delivery to the brain remains a challenge, and researchers are exploring alternative delivery systems to minimize risks and improve effectiveness.

Genetics and Conditions like Autism and Obesity

Genetics plays a significant role in conditions like autism, with numerous genes associated with the disorder. Environmental factors and exposure beyond genes also contribute to the development of autism. Obesity is influenced by both genetics and environmental factors, and understanding body weight regulation is crucial for developing effective treatments. Epigenetics, including DNA methylation, may play a role in the propagation of obesity across generations.

Conclusion

Dr. Wendy Chung’s expertise in genetics sheds light on the advancements in genetics testing, the potential of gene therapy, and the importance of personalized medicine. The Guardian Study aims to improve newborn screening and early intervention for genetic disorders, while gene editing holds promise for treating genetic diseases. Understanding the role of genetics in conditions like autism and obesity is crucial for developing effective treatments. The field of genetics continues to evolve, offering new possibilities for improving health and well-being.