Genetic testing and personalized medicine
Tuesday 26 July 2011, 3:30pm - 4:50pm

LOCATION: SUNNYSIDE ROOM

In this session, presenters reviewed developments and major concerns related to genetic testing, focusing on crafting a realistic assessment of personalized medicine and direct-to-consumer (DTC) gene tests. Discussion focused on approaches that take into account social justice, privacy, public health and other concerns in the development of genetic testing. The session situated DTC genetic tests in a historical context, focus on where they make sense and where they don’t, and consider various options for public policy.

Personalized medicine: review and updates

  • What it’s good for: e.g. tests for cancer-related gene expressions and targeted drug treatments for some of these; gene association studies that try to understand disease mechanisms; tests for diagnosing single gene disorders; tests for mutations that dominate the risk for rare familial forms of cancer (e.g. BRCA1/2); pharmacogenetic tests for determining optimal dosing for specific drugs (very few have shown to be effective)
  • What it’s not good for: predicting or preventing common diseases in healthy people who have no symptoms or family history related to such conditions
  • “Me medicine” and “we medicine”
  • Privacy and budgetary considerations

DTC gene tests: review and updates

  • Technical and price developments (plummeting of costs of whole-genome sequencing); status of DTC companies (US and abroad), investors, and consumer uptake (i.e., lack thereof)
  • Status of regulatory activities & considerations

The political landscape and options for policy and outreach

  • Positions of key players, including medical and research organizations and individuals
  • Arguments for and against regulation, and underlying reasoning
  • Growing consensus amongst the geneticists and medical professionals that gene tests do not have any predictive value for common diseases (except in a few specific circumstances)
  • UK experience: strategies, successes, challenges
  • Potential strategies for policy intervention or outreach