What is personal genetics?

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Presentation transcript:

What is personal genetics? What might it mean for me, my family and society?

Discuss with the following questions with the person (or people) next to you: What are the potential benefits to knowing more about your genetic predisposition to disease? What are the possible negatives to knowing?

Why is genetics getting more personal? Because learning about our own DNA is rapidly becoming inexpensive and accessible Insights about our health, behavior, family history and other traits Highly personal information with personal, social and familial impact Genetic testing available directly to consumers

Why does this matter to you? “Under $1000 dollars in this decade” “Widely available in the next 5-10 years” “Transforming health care for the next generation” Picture: http://www.flickr.com/photos/jameshart/3216713992/sizes/s/in/photostream/ Sources: New York Times

A true story highlights the promise of personalized medicine http://www.nature.com/news/2011/110615/full/news.2011.368.html

Personal Choices Based on Genetic Information Angelina Jolie reveals she chose to undergo a double mastectomy Jolie had a genetic test and found she carried a genetic mutation – doctors estimated an 87% chance she would get breast cancer

Non-Invasive Prenatal Testing http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg Fetus and mother share a blood supply Fetal cells release DNA that enters the maternal blood stream Maternal blood now contains a mixture of maternal cell-free DNA and fetal cell-free DNA The fetus is connected to the uterine wall by an organ called the placenta, which facilitates nutrient uptake and fetal waste disposal. The placenta is composed entirely of (extraembryonic) fetal cells, and sometimes these placental cells fall off and break open, releasing cell-free fetal DNA into the blood vessels connecting the placenta to the uterus. This blood circulates throughout the mother’s body, so that a blood sample taken from her arm contains not only her genetic material, but also the cell-free fetal DNA, which makes up 5-10% of the total genetic material found in the mother’s blood. Extracting DNA from the blood gives you a mix of maternal and fetal DNA. To central problem of NIPT is how to test the fetal DNA for genetic conditions given that it is mixed together with maternal DNA.

“DNA tests locate genetic branches of African American’s family trees” http://www.post-gazette.com/stories/life/lifestyle/dna-tests-locate-genetic-branches-on-african-americans-family-trees-427734/ Photo credit: Steve Mellon

Technological Advances http://en.wikipedia.org/wiki/History_of_computing_hardware http://www.flickr.com/photos/smemon/7118767335/ ENIAC 1946 iPad 2012

Genome Sequencing Technology http://www.flickr.com/photos/jurvetson/57080968/ Applied Biosystems 3730 DNA Analyzers 2002 Oxford Nanopore MinION 2012

Direct-to-consumer analysis for sale on the internet 23andme.com

Health-related Risks 23andme.com

Personal Genomes: What Are the Challenges? How far ahead is the technology of its clinical usefulness? How much might this information impact you and your family? Will fair weight be given to environmental & social factors? How much should we be concerned about discrimination at work and by insurance companies?  How can we ensure access for all?