Personal genetics education project “Life With a Lethal Gene” New York Times, March 18, 2007 How did she make her decision to be tested? How did she feel.

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Presentation transcript:

personal genetics education project “Life With a Lethal Gene” New York Times, March 18, 2007 How did she make her decision to be tested? How did she feel before and after the test? How did her results change her behavior and plans for the future? Who else was impacted by her decision to be tested?

personal genetics education project How is Huntington’s Disease inherited? HD allele Non-HD allele HD affected Not HD affected HD affected Not HD affected

19th century20th century 21st century (Flemming, 1882) Where is genetics headed?

personal genetics education project Genome sequencing: Past, Present, Future Human Genome Project: 13 years, 2.7 billion Nobel Laureate James Watson: 2 years, 2 million 23andMe, Navigenics: A “genome scan” (SNP analysis, $400-2,000, results in a few weeks) Knome, a full genome sequence, starting at $99,000 Personal genome sequence: A Human Genome Project performed on YOU: Goal: 1-5 years, under $1000

personal genetics education project Why do people traditionally get genetic testing? Predictive testing: Am I at risk for a genetic disease? Carrier testing: Might I pass on a genetic mutation to a potential child? Prenatal testing: What can I learn about the genetic profile of my fetus? Diagnostic testing: Does my disease have a genetic basis?

personal genetics education project Why personal genome sequencing? Ideas for more tests and interventions if I learn I’m at risk To find the right drugs, in the right doses, for my conditions Motivation to my change habits Might reveal details of my family tree and genealogy Planning for my long term medical and financial needs I am an early adopter and information altruist I want to use my genome as a social networking tool To inform my reproductive decisions

personal genetics education project An example of targeted treatments: Pharmacogenomics Image from: Erasmus MC at University Medical Center Rotterdam via Journal of Young Investigators

personal genetics education project Personal genomes: what are the challenges? What are the privacy concerns for individual and families? How much should we fear discrimination at work and with insurance? How far ahead is the technology of its clinical usefulness? Will fair weight given to environmental & social factors? How can we ensure access for all who want to be sequenced? What surprises and secrets might be revealed? How realistic are promises of anonymity?