Transcript personal genetics education project

Genetics gets personal:
Ethical and scientific issues in personal
genomics
Brunswick High School
Feb 3, 2010
Personal Genetics Education Project (pgEd)
www.pged.org
Dana Waring
[email protected]
• Founded in 2006 at Harvard Medical School
• Responding to technological advances in genetics
• Emphasis on exploring risks and benefits of personal genomics
• Careers in science: Research, medicine, law, policy,
philosophy, psychology, ethics, genetic counseling, education
Today’s agenda:
• Discuss recent developments from the social, legal and ethical fronts
of genetics
• Explore some of the likely risks and benefits of knowing more about
your DNA.
• Highlight the personal and professional ways your life may intersect
with personal genetics
• Big question: How do we use information?
personal genetics education project
Why is talking with students so urgent?
“ Under $1000 dollars in this decade”
“ Widely available in the next 5-10 years”
“ Transforming health care for the next generation”
•Average age to marry in the US, 2000-2003: Men 26.7, Women 25.1
•Average age of first-time mothers in the US, 2003: 25.2
Sources: census.gov, cdc.org, NYT
personal genetics education project
Careers with big potential: sciences & health
PhD programs in the sciences: FREE tuition & stipend
Sources: US Department of Labor: http://stats.bls.gov/emp/ep_table_103.htm
personal genetics education project
19th century
20th century
(Flemming, 1882)
Where is
genetics
headed?
21st century
What do we know about Huntington’s Disease?
• Devastating degenerative neurological disease without
a cure or successful treatment.
• The Huntingtin gene, and the ability to test for the
mutation, was discovered in 1993.
• The Huntingtin gene codes
for a protein involved in
neuron development and function
•Dominant and fully penetrant
personal genetics education project
What do we know about BRCA1, BRCA2,
and breast and ovarian cancer?
• BRCA1 & BRCA2 function as tumor suppressors, repairing damaged DNA
• BRCA 1 & BRCA2 were discovered in 1994 and 1995, respectively
• 12 out of 100 women will get breast cancer.
Those with BRCA mutations have
a risk of 60 out of 100.
• Known genetic causes account
for 5-10% of all breast
cancers in the US
•Extensive treatment options
with good success rates
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
• Personal genomics companies 23andMe, Navigenics:
•A “genome scan”
(SNP analysis, $400-$1,000, results in a few weeks via the web)
• Knome, full sequencing: initially $350,000 in 2007,
now $25,000 for an “ exome” sequence and analysis
• Complete Genomics: $1500 for a full sequence in 2010
personal genetics education project
What’s a personal genome?
A Human Genome Project performed specifically on
you
(and thousands of others)
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?
• Might reveal details of myself, my family tree and genealogy
• Ideas for more tests and interventions if I learn I’m at risk for
certain diseases or conditions
• To find the right drugs, in the right doses, for me specifically
• Motivation to my change habits
• I am an early adopter and want to help advance medical science
• To inform my reproductive decisions
personal genetics education project
Photo: Reuters
Photo: Evan Hurd
Photo: Reuters
personal genetics education project
Personal genomes: what are the challenges?
How will knowing more about your DNA impact you and your family?
How much should you fear discrimination socially or in your job?
Will fair weight given to environmental & social factors when trying to
figure out why we are the way we are?
How can we ensure access for all who want to be sequenced?
How realistic are promises of privacy?
personal genetics education project
Surprise! Learning more than you bargained for
•Ancestry and genealogy
•Health information that ranges from very serious to very ambiguous
•Psychological impact
•Finding donor parents
•Partial matches in criminal DNA databanks used to find first-degree relatives
personal genetics education project
Legal issues - Privacy and discrimination
Your doctor
Your spouse
Researchers studying genetics
Law enforcement
Your health insurer
Your employer
personal genetics education project
Genetic Information Non-discrimination Act (GINA)
“ The first civil rights legislation of the 21st century”
-Senator Ted Kennedy
personal genetics education project
GINA: Prohibits genetic discrimination in
health insurance and employment
Title 1: Prohibits discrimination in group and individual health
insurance plans. Forbids genetic information being used to deny
coverage, adjust premiums, or require someone to take a genetic
test.
Title 2: Prohibits employers from using genetic information to make
hiring, firing or promotion decisions. Severely limits employers
rights to request, require, or purchase an employee’s genetic
information.
personal genetics education project
Psychological impact: What do we know?
No long term negative psychological impact of disclosure
People act on information not considered clinically “actionable”
“ Disclosure of APOE Genotype for Risk of Alzheimer’s Disease”
RC Green et al, NEJM, v 361: 245-254, 2009
“Genetic susceptibility testing for Alzheimer’s disease and its impact on insurance behavior”
Zick et al, Health Affairs 24(2):483-490, 2005
personal genetics education project
Citizen Science
www.mydaughtersdna.org
personal genetics education project
Members of the open Facebook group
“ BRCA 1 or 2 Genetic Ovarian and Breast Cancer Gene”
(**509 members 5/19/2009, 552 members on 7/7/2009, 605 members on 1/31/10)
personal genetics education project
personal genetics education project
personal genetics education project
Genetics in the news:
Impacting all parts of society
personal genetics education project
Final thoughts: Will inexpensive and widespread sequencing
change our ideas on privacy?
Good for cops, bad
for NIH
ScienceNOW, Couzin,
August 2008
“ The gravest worry
was that an individual
who had someone's
genetic code could
determine, based on
the pooled data,
whether the person
participated in a
disease study and
whether they were in
the disease group, or
thereby glean private
health information”
personal genetics education project
personal genetics education project
www.pged.org
Jack Bateman, Department of Biology,
Bowdoin College
James Morris, Department of Biology,
Brandeis University
Dana Waring, Genetics Department,
Harvard Medical School
Ting Wu, Genetics Department,
Harvard Medical School
personal genetics education project