Lecture on Personal Genomics and Its Implications

Introduction to Personal Genomics

• Know Me Company: Offers a flash drive containing a person's complete DNA.
  • DNA consists of 6 billion letters and is unique to each individual.
  • Previously, whole genome sequencing cost $350,000 (3 years ago).
  • Future sequencing may cost under $1,000 in 4-5 years.
• Medical Revolution: Use genetic information for diagnosis and treatment.
  • Example: Whole genome sequencing saved Alexis's life.
  • Ethical concerns: privacy and misuse by insurance companies.

Understanding Your Genetic Code

• Self-Knowledge Era: Increased self-understanding through genomics.
  • Genomics helps predict diseases and tailor prevention methods.
  • Concerns over receiving information predicting unavoidable diseases.

Case Studies and Medical Challenges

• Andrew Schmidtz: A 5-year-old with undiagnosed symptoms.
  • Multiple strokes and brain surgery required.
  • Geneticist Howard Jacob investigates possible genetic causes.
• Nicolus Volker: A success story; a genetic diagnosis led to life-saving treatment.

Commercial Genetic Testing

• 23 and Me: Offers genetic testing but not full sequencing.
  • Provides insights on risks for various traits and diseases.
  • Criticisms: Inability to provide deterministic predictions.
• Ethical Concerns: Overinterpretation and societal risk management.

Personal Experiences and Decisions

• Katie Moser: Tested for Huntington’s disease; decisions affect family dynamics.
• Catherine Elton: Opted against BRCA1 gene testing despite family history.

Actionable Genes

• Concept: Genes where specific interventions can improve health.
  • Example: Managing risk of blood clots and heart attacks.

Advances in Disease Treatment

• Cystic Fibrosis: New gene-based drug development.
  • Vertex Pharmaceuticals: Developed drugs targeting specific genetic mutations.
  • Kalydeco: Targets a specific CF mutation.
• Cancer Treatments: Targeted therapies based on genetic mutations.
  • Melanoma Treatment: BRAF mutation targeting shows promise.

Genetic Testing Controversies

• Pre-implantation Genetic Diagnosis (PGD): Screen embryos for diseases.
  • Concerns about future eugenics and "designer babies."
• Privacy and Discrimination: Risks with genetic data accessibility.

Future of Genomics

• Sequencing at Birth: Could prevent conditions like Alexis and Noah's.
  • Challenges: Privacy and potential stigmatization.
• Genomic Hacking: Increasing concerns over misuse and privacy breaches.

Conclusions

• Genomics offers transformative possibilities for medicine and personal knowledge.
• The balance of ethical considerations, privacy, and practical use remains crucial.
• The journey to understand ourselves through our genome is ongoing and complex.