Personal Genomics and the Social Sciences and Humanities

Personal genomics is not just a physical and life sciences issue: it is a political,

economic, and social issue

We need to be aware of how we are embedded in a larger social discourse on

molecular biology and genetics.

Society and Prediction: Zeitgeist

Society

Discourse

Science

Society and Prediction: Frankenstein: or, The Modern Prometheus (1818)

“Rationalism” Revolution

Technology, Humanity

Scientific Method, Biology

Society and Prediction: Brave New World (1932)

Social Engineering,

Mass Production, “Americanization”

Utopian/ Dystopian Futures

Biology, Early Genetics

Society and Prediction: Jurassic Park (1990)

Mass Production, Consumerism

Trespass, Consequences

Biotechnology

Society and Prediction: Zeitgeist

Privacy, Privatization

Hope and Fear

Personalized Genomics

Caution is required when drawing conclusions about the relationship between

genetics and human behaviour.

Your Concerns (ASIC 200 2013)

•  Harvesting clones organs •  Superhumans (economic inequity) •  Dopplegangers •  Behaviour and crime and punishment •  Unnecessary test/burden on health care •  Privatization •  Phenotype preferences and social status •  Clone wars •  Selective abortions •  Bioterrorism

Your Concerns (ASIC 200 2012)

•  GM Zombies! (GMZs) •  Discrimination (example by insurance companies) •  Beautiful phenotypes •  Organ harvesting •  Eugenics •  Child selection •  Breach of privacy •  Biological warfare •  Medicated society/immune system implications •  Inequality •  Crime

Genetics and Human Society

•  Medicine (genetic testing, gene therapy, cloning, pharmaceuticals)

•  Health care (practices, policies) •  Industry (chemicals, energy) •  Agriculture (GM crops/food) •  Legal and regulatory systems (court decisions,

government legislation) •  Domestic politics (privacy, minority groups) •  International/Global (governance, inequality)

Concerns in the literature •  abuse of the technology

•  public education and awareness •  the role government regulation

•  individual rights and privacy •  reproductive ethics

•  patient and physician relations •  potential for social engineering

•  genetic discrimination •  racial and social underclass marginalization

•  unequal distribution of benefits globally

How did we get here?

Personal genomics has a history…

26 June 2000

Announcement of the sequencing of the human genome, after an effort that took 13 years at an estimated cost of 2.7 - 3 billion dollars.

President Bill Clinton

"Today, we are learning the language in which God created life. We are gaining ever more awe for the complexity, the beauty, and the wonder of God's most divine and sacred gift."

But...

…the announcement was premature. A truly complete sequencing of the genome was

not accomplished until 2003.

…and it was a competition! J. Craig Venter Francis Collins

Philosophical Divisions

Some scientists (i.e., Venter and his company Celera) energetically pursued patents on various gene sequences, with a view to the commercial potential of the patents

Other scientists (Collins) saw gene sequences as public goods

Enter President Clinton..

•  In March 2000, President Clinton announced the genome sequence could not be patented and should be made available free to all researchers.

…Exit stock value.

•  The announcement sent Celera’s stock value into a nosedive, and biotechnology stocks lost $50 billion in market capitalization in two days.

Raising Hopes

Sequencing the human genome promised much: greater understanding of disease; improved medical treatments; and more

effective pharmaceuticals

…but more than 20 years later, few results.

Personal Genomics and the Social Sciences and Humanities

Core Themes

1. Analytical and policy complexity

The Levels of Analysis: Individual, State/Group, System

The Levels of Analysis: Individual, State/Group, System (Global?)

Standard of living

Personal Aspirations

Personal Health

Education

Personal Ethics

Spiritual Beliefs Life Experiences

Political System

Economic and Social Priorities

Laws and regulations Leadership

Public Opinion

Interest Groups

Marginalized Groups

Institutions

Diplomacy/negotiations

Competition/rivalry Information Flow

Inequality Norms

2. The genie is out of the bottle

•  Accessibility is increasing as costs fall and more genetic information is openly available.

2. The genie is out of the bottle

•  This will make it easier to: – Understand gene function – Understand species evolution – Understand disease – Design drugs for individual use – Avoid adverse drug reactions

2. The genie is out of the bottle

•  Genetic privacy in the Information Age

CSI ASIC 200: From Anonymous Genome to Individual Identity?

A person acquired some anonymous human genomes (only matching

info was age and U.S. state)

?

This person was able to match some of those genomes to

specific individuals and identify their

relatives

Yaniv Erlich’s Experiment

1000 Genome/HapMap Projects

•  Genome •  Age •  Region

Analysis of genetic

“markers” •  Y-STR

markers

Genealogy Websites

•  Searched samples by markers, last name, age, and region

Google

2. The genie is out of the bottle

•  Private Genome Sequencing

Private Genome Sequencing

Direct-to-consumer testing

Private Genome Sequencing

•  Illumina, based in San Diego, with offices in the U.K., Japan, China, Singapore, Australia, and Brazil, offered full genome sequencing at a cost of $9500 in 2012 (in 2009, the first year of offering the service, the cost was $48,000).

•  You get a special rate of $4000 per genome for orders of 50 or more…

Private Genome Sequencing

•  Pacific Biosciences estimates that by 2013 it will be able to offer complete human genome sequencing in 15 minutes for less than $1000.

•  More than three dozen firms are currently trying to do the same thing.

Private Genome Services

•  Ancestry Tracing and Predictive Medicine

Private Genome Services

•  Costs vary by services, but are typically somewhere between $999 to $99 plus $9 a month for one year (down from $399 in 2008!) for 23andMe.

•  23andMe claims to have provided testing services for 75,000 customers.

Private Genome Services

•  Require lower levels of consumer knowledge and awareness;

•  Misinterpretations of test results can lead to stress and misinformed decision making;

•  Positive tests can lead to significant medical decisions with wider implications.

“There is wide variation in the extent to which DTC genetic testing companies address protection of personal information and biological samples. Of the 32 company websites we studied, 20 provide a privacy policy on their websites. Some focus on internet use (e.g. how the website tracks visitors) and some briefly address handling of samples and/or results. Seven of the 20 companies have more comprehensive policies that explain how the company collects and uses information via its website and how samples and results are handled.”

Spousal, prenatal or child screening?

•  Will spousal genomic testing impact decisions on procreation?

•  Would prenatal testing impact decisions on procreation?

•  In 2009, Illumina's CEO stated that "A complete DNA read-out for every newborn will be technically feasible and affordable in less than five years, promising a revolution in healthcare" and that "by 2019 it will have become routine to map infants' genes when they are born."

Ethical Issue:

•  Reproductive issues including informed consent for procedures, use of genetic information in reproductive decision-making, and reproductive rights. – Do healthcare personnel properly counsel

parents about the risks and limitations of genetic technology?

– What are the larger societal issues raised by new reproductive technologies?

Ethical Issue:

•  Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others. – Who should have access to personal genetic

information, and how will it be used?