Genetics gets personal:

Ethical and scientific issues in personal genomics

Brunswick High SchoolFeb 3, 2010

Personal Genetics Education Project (pgEd)www.pged.orgDana Waring dwaring@genetics.med.harvard.edu

• 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

personal genetics education

project

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

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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

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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

19th century 20th century

21st century

(Flemming, 1882)

Where is genetics headed?

personal genetics education

project

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

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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

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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

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What’s a personal genome?

Goal: 1-5 years, under $1000

A Human Genome Project performed specifically on you

(and thousands of others)

personal genetics education

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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

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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

projectPhoto: ReutersPhoto: Evan Hurd

Photo: Reuters

personal genetics education

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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

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Legal issues - Privacy and discrimination

Your doctor

Your spouse

Your employer

Your health insurer

Law enforcement

Researchers studying genetics

personal genetics education

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“ The first civil rights legislation of the 21st century”

-Senator Ted Kennedy

Genetic Information Non-discrimination Act (GINA)

personal genetics education

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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.

GINA: Prohibits genetic discrimination in health insurance and employment

personal genetics education

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Psychological impact: What do we know?

“ 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

No long term negative psychological impact of disclosure

People act on information not considered clinically “actionable”

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

personal genetics education

project

Genetics in the news:

Impacting all parts of society

personal genetics education

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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

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