How Much Do You Really Want to Know About How You Will Die?

TL;DR

Genetic testing can provide certain individuals with valuable information about highly heritable diseases, but for most people, the results are probabilistic and may cause confusion rather than clarity.

Transcript

all right so now let's ask the audience clap since it's a little hard to see in here if you would want to have your genome sequence to answer some questions about your health now as loud as you can just individually and randomly and just call out what disease you want to know most about just call it out it's Alzheimer's heart disease well what canc... Read More

Key Insights

• 💁 Genetic testing can be valuable for individuals with highly heritable rare diseases, as it can provide actionable information to avoid the disease.
• 👯 However, for most people, genetic testing only provides probabilistic risk markers, which may cause confusion and uncertainty.
• ✊ Our understanding of genetics is currently focused on predictive power, but it will take time and further discoveries to increase our ability to predict health outcomes.
• 👶 The genomic revolution is not wishy-washy, as it is already helping with basic science and finding new targets for therapies.
• ✊ To improve predictive power in genetics, we need to discover more genes, variants, and epigenetic phenomena, as well as consider proteomics, the microbiome, and environmental interactions.
• 🏑 Genetics is a complex field that requires a multidimensional approach to fully understand and utilize its potential.
• 🫵 The deterministic view of genetics is due to early discoveries of highly penetrant diseases, but most genetic diseases are actually probabilistic.

Questions & Answers

Q: How helpful can doctors be with probabilistic genetic information?

Doctors can be both helpful and confusing with probabilistic genetic information. For individuals with highly heritable rare diseases, genetic information can be valuable in avoiding the disease. However, for most individuals, genetic testing only provides probabilistic risk markers, leading to potential confusion.

Q: Why do we have a deterministic view of genetics?

Our understanding of genetics has been shaped by the discovery of highly penetrant diseases, where having the gene mutation guarantees the disease. However, most genetic diseases are actually probabilistic, with risk markers rather than definite outcomes.

Q: Will our understanding of genetics become more deterministic in the future?

While genetics is currently being used in basic science and to find targets for new therapies, it will take many decades for our understanding of genetics to become more predictive. This will involve discovering more genes, variants, epigenetic phenomena, proteomics, and considering interactions with the microbiome and environment.

Q: What is the role of genetics in the short term?

Genetics is currently being used to find targets for new therapies and make advancements in basic science. It is helping researchers understand the mechanisms behind diseases and can potentially lead to short-term benefits in healthcare.

Summary & Key Takeaways

• Genetic testing can provide information about highly heritable diseases and potentially help individuals avoid them.

• However, most genetic diseases are probabilistic and only provide risk markers rather than definite outcomes.

• The current state of genetic science is focused on using genetics for basic science and discovering targets for new therapies.