Introduction to Personal Genetics Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Laboratory www.pged.org
Jan 13, 2016
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
people at your desk group:
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.
Genetics and reproduction
Personal Genetics Education Project (pgEd)Harvard Medical School - Wu Laboratory
www.pged.org
• If you could choose specific traits or qualities that you would want your child to have, what would you choose? Why?
• Are there traits you would not want your child to have? What are they? Why?
Discussion questions:
• Gain genetic information about an embryo or unborn fetus.
• Help individuals conceive.
• Allow individuals to select embryos based on their genetic makeup.
Genetic reproductive technologies can be used to:
Invasive testing: Amniocentesis and chorionic villus sampling
Prenatal testing
http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg
•Fetus and mother share a blood supply.
•Fetal cells release DNA, which can then enter the maternal blood stream.
•Maternal blood now contains a mixture of fetal cell-free DNA and maternal cell-free DNA.
Non-invasive prenatal testing(NIPT)
http://www.nature.com/news/researchers-turn-off-down-s-syndrome-genes-1.13406
• In vitro fertilization is a technique used to treat infertility.
• A woman has eggs harvested from her ovaries, after taking hormones to stimulate egg production. The eggs are then combined with sperm in a petri dish.
• After 3-5 days, the embryos are assessed, and a doctor/embryologist determines which embryos are of the highest quality.
• One or more embryos are then placed in the woman’s uterus. The embryo(s) may or may not attach and lead to pregnancy.
What is in vitro fertilization (IVF)?
What is preimplantation genetic diagnosis (PGD)?
• The embryo is created via in vitro fertilization.
• Typically, a single cell is removed from the embryo at the 8-cell stage (3 days after fertilization).
• Genetic testing is performed.
• The results of testing are used to decide which embryos, if any, to implant in the prospective mother’s uterus.
PGD:Pre-implantation Genetic Diagnosis
Schwartz 2011 Jewish News
A Real Family impacted by PGD: Molly and Adam Nash
Fanconi anemia (disorder of DNA repair)
Cure: PGD, umbilical cord bloodstem cells
http://tvnoviny.sk/sekcia/spravy/zahranicne/vo-francuzsku-sa-narodilo-prve-dizajnerske-dieta.html
What % of IVF clinics provide testing for the following reasons?
aneuploidy
autosomal disorders
chromosomal rearrangement
X-linked diseases
non-medical sex selection
avoid adult-onset disease
HLA typing
HLA typing w/o single gene test
Select for a disability
http://www.dnapolicy.org/resources/GeneticTestingofEmbryos.pdf
Public attitudes regarding acceptable uses of PGD:
Fatal HLA match Adult onset disease
Sex Intelligence/strength
http://www.dnapolicy.org/resources/2006_Hudson_PGD_public_policy_and_public_attitudes.pdf
Want a total ban on PGD
Support government regulation of safety and quality
Think government should regulate ethicsonly
Support no government regulation
Believe government should regulate safety, quality and ethics
Opinion poll: What role, if any, should the government of the United States play in
regulating PGD?
http://www.dnapolicy.org/resources/2006_Hudson_PGD_public_policy_and_public_attitudes.pdf
Discussion Questions
• What are the potential opportunities that PGD can provide and what are the challenges of PGD?
• Now that you have discussed PGD, have you changed your opinion about whether you would want to choose certain traits for your child?
• If your parents had applied PGD to you, should they tell you? Or would you prefer not to know?
• Do we need rules to guide how PGD is used? If yes, what sort of rules? Whose job would it be to make and enforce such rules?