Introduction to Personal Genetics

Personal Genetics Education Project (pgEd)Harvard Medical School - Wu Laboratory

www.pged.org

Do Now Discuss with the following questions with the

person (or people) next to you:

1. What are the potential benefits to knowing more about your genetic predisposition to (chance of developing) a disease?

2. What are the possible downsides to knowing?

3. 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.

“Under $1,000 dollars in this decade” “Widely available in the next 5-10 years”

“Transforming health care for the next generation”

Quote sources: New York Times

Why might personal genetics matter to you?

Photo: http://www.flickr.com/photos/jameshart/3216713992/sizes/s/in/photostream/

The Beery twins’ story highlights the promise of personalized medicine

http://the-scientist.com/author/lucy-reading/ (2011)

Personal choices based on genetic information

Getty Images

• 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.

Non-Invasive Prenatal Testing (NIPT)

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 bloodstream.

• Maternal blood now contains a mixture of maternal cell-free DNA and fetal cell-free 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

Oxford Nanopore MinION

2014

Applied Biosystems 3730 DNA Analyzers

2002

Genome sequencing technology

http://www.flickr.com/photos/jurvetson/57080968/https://www.nanoporetech.com

Direct-to-consumer analysis for sale on the internet

The “lighter side” of DNA analysis

Health-related risks sold directly to consumers: an evolving landscape

1. Clinical utility: How likely is it you or your doctor can take action based on genetic information?

2. How much might this information impact you and your family?

3. How can we ensure access for everyone? 

4. Will people understand that our environment (health care, family, society, etc.) also shapes who we are?

Challenges in personal genetics

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.