Introduction to Personal Genetics Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Laboratory Please use and modify these slides as needed. If you retain our text or images, please also leave the “Personal Genetics Education Project” logo in the lower right hand corner. Thank you very much! If you have questions, please contact us at dwaring@genetics.med.harvard.edu. Revised 2014. www.pged.org

Do Now 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 (chance of developing) a disease? What are the possible downsides to knowing? Aside from health and medical information, what else might you be curious to learn about from your DNA?

Genetics is getting more personal because learning about our own DNA is rapidly becoming inexpensive and accessible.

DNA analysis can provide: Insights about our health, behavior, family history and other traits. Highly personal information with personal, social and familial impact. Information about genes and traits directly to consumers.

Why might personal genetics matter to you? “Under $1,000 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/ Photo: http://www.flickr.com/photos/jameshart/3216713992/sizes/s/in/photostream/ Quote sources: New York Times

The Beery twins’ story highlights the promise of personalized medicine http://the-scientist.com/author/lucy-reading/ (2011)

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 mutation in the BRCA1 gene. Doctors estimated there was a very high chance she would get breast cancer. Getty Images

Non-Invasive Prenatal Testing (NIPT) Fetus and mother share a blood supply. Fetal cells release DNA that enters the maternal bloodstream. Maternal blood now contains a mixture of maternal cell-free DNA and fetal cell-free DNA. http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg

“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

Genome sequencing technology Applied Biosystems 3730 DNA Analyzers 2002 Oxford Nanopore MinION 2014 http://www.flickr.com/photos/jurvetson/57080968/ https://www.nanoporetech.com

Routine blood tests covered by insurance? $1,000 genome; taking only hours or days to complete (Note to teacher: Graph is available at http://www.genome.gov/sequencingcosts/. We have added a data point for October, 2011 to show that the cost of sequencing a human genome is continuing to decline and on pace to achieve a $1,000 price tag within the next few years.) Because of major technological advances, the cost of sequencing a human genome has fallen rapidly. And within the next 5 years, the cost of sequencing a human genome will be under $1,000 and will take only hours or days. When the cost is low enough, perhaps reading human genomes will be as routine as blood tests and easy enough to be carried out in your doctor’s office.

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

The “lighter side” of DNA analysis www.23andme.com

Health-related risks sold directly to consumers: an evolving landscape www.23andme.com

Challenges in personal genetics Clinical utility: How likely is it you or your doctor can take action based on genetic information? How much might this information impact you and your family? How can we ensure access for everyone?  Will people understand that our environment (health care, family, society, etc.) also shapes who we are?

Four Corners activity

People should get counseling from a doctor or genetic counselor when they get genetic testing because they will not be able to handle the information otherwise.

People should have the right to learn whatever they want about their DNA because it is their own body.

I would only want to find out my likelihood of developing a disease if there are ways to prevent or treat it.  

Parents undergoing in vitro fertilization should have the option to screen embryos for mutations likely to cause a serious disease.

Parents should be able to choose a child’s traits, such as eye color and sex, for non-medical reasons.

Employers should use genetic information to make hiring or firing decisions about employees.

Parents should be able to find out whatever they would like about their children’s DNA before they turn 18.

I would want to know if someone I was dating had a strong genetic predisposition to a serious disease.