Ethical Issues InEthical Issues InBioinformatics and Bioinformatics and

Genetic TestingGenetic Testing

Saria AwadallaSaria Awadalla

With contributions by With contributions by Martha RajMartha Raj

What are the issues?What are the issues?

Confidentiality and PrivacyConfidentiality and Privacy Social ImplicationsSocial Implications Psychological ImpactPsychological Impact Reproductive IssuesReproductive Issues LegislationLegislation

GattacaGattaca

Privacy vs ConfidentialityPrivacy vs Confidentiality

Access to Access to personal personal information by information by a third partya third party

Third party Third party interference interference and ownership and ownership of informationof information

Disclosure of Disclosure of nonpublic nonpublic information to a information to a third partythird party

Why protect privacy?Why protect privacy?

Privacy is a key component of human Privacy is a key component of human dignity.dignity.

Prevent social constraints and Prevent social constraints and discrimination indiscrimination in– The workplaceThe workplace– Insurance coverageInsurance coverage– Educational FacilitiesEducational Facilities– Sporting eventsSporting events

How to protect privacy?How to protect privacy?

Physical SecurityPhysical Security– Secure building housing databasesSecure building housing databases– Separate and secure databases in separate Separate and secure databases in separate

locationslocations Electronic securityElectronic security

– EncryptionEncryption– Limited accessLimited access

Password restrictionsPassword restrictions Closed networksClosed networks

$$MONEY$$$$MONEY$$

2001 survey of the American 2001 survey of the American Management Association Management Association

Genetic Testing by Major U.S. firmsGenetic Testing by Major U.S. firms 1.0% 1.0% Sickle cell anemia Sickle cell anemia 0.4% 0.4% Huntington's Disease Huntington's Disease 14% 14% Susceptibility to workplace Susceptibility to workplace

hazards hazards 3% 3% Predisposition to breast and Predisposition to breast and

colon cancer colon cancer 20% 20% Collect family medical Collect family medical

historyhistory (Pedigree Analysis) (Pedigree Analysis)

EEOC vs. Burlington Northern and EEOC vs. Burlington Northern and Santa Fe Railway Santa Fe Railway

Issue:Issue: Collection of employee genetic Collection of employee genetic information without consentinformation without consent

AIM:AIM: To prove that carpal tunnel To prove that carpal tunnel syndrome was predetermined and syndrome was predetermined and not work related. not work related.

Violation:Violation: The Americans with The Americans with Disabilities Act (ADA) Disabilities Act (ADA)

deCODEdeCODE

Recently isolated two new obesity Recently isolated two new obesity genes.genes.

Collaboration with Collaboration with Hoffman-La Roche, a pharma company.

Licensed to study basis of 12 genetic diseases.

Has access to Iceland’s population Has access to Iceland’s population medical records and genetic info.medical records and genetic info.

Genetic TestingGenetic Testing

Examining DNA for anomalies or Examining DNA for anomalies or mutations such as chromosome mutations such as chromosome number, base insertions, deletions & number, base insertions, deletions & substitutionssubstitutions

Genetic disorders with available tests Genetic disorders with available tests include include breast cancer, breast cancer, Huntington’s disease, obesityHuntington’s disease, obesity, , sickle-cell, cystic fibrosissickle-cell, cystic fibrosis

Limitations of Genetic TestingLimitations of Genetic Testing

Genetic tests are PREDICTIVE & Genetic tests are PREDICTIVE & PROBABILISTICPROBABILISTIC– Tests will not give you a Yes/No answer.Tests will not give you a Yes/No answer.– Provides the chances/probability of Provides the chances/probability of

getting a disease.getting a disease.– The role of the environment is still not The role of the environment is still not

clearly understood.clearly understood.

UncertaintiesUncertainties

Genetic tests only determine the Genetic tests only determine the presence of a specific mutation. presence of a specific mutation. – There are more than 700 different There are more than 700 different

mutations that can potentially cause mutations that can potentially cause Cystic fibrosis. Cystic fibrosis.

The severity of a disease cannot be The severity of a disease cannot be predicted.predicted.– Symptoms for Cystic fibrosis can range Symptoms for Cystic fibrosis can range

from no symptoms to severe. from no symptoms to severe.

Uncertainty and insuranceUncertainty and insurance

Genetics is highly probabilistic.Genetics is highly probabilistic. The relationship of nature vs. nurture The relationship of nature vs. nurture

is not completely understood.is not completely understood. Actuarial algorithms are mostly Actuarial algorithms are mostly

deterministic and deterministic and naïve.naïve. ““Patients” may be overcharged or Patients” may be overcharged or

may become uninsurable. may become uninsurable. Can you think of the implications?Can you think of the implications?

Other psychological issuesOther psychological issues

Guilt of passing on “bad genes”.Guilt of passing on “bad genes”. Guilt of being spared.Guilt of being spared. Depression, anxiety from knowing Depression, anxiety from knowing

about future onset of disease.about future onset of disease.

Reproductive IssuesReproductive Issues

On knowing that one is a carrier of a On knowing that one is a carrier of a mutation, should that person have mutation, should that person have children?children?

And given the probabilistic nature of And given the probabilistic nature of genetic testing, at what point is the genetic testing, at what point is the risk too high to have children?risk too high to have children?

Can the government decide who Can the government decide who should or should not bare children should or should not bare children based on our genetic profile?based on our genetic profile?

How to protect privacy?How to protect privacy?

Laws and RegulationsLaws and Regulations

“We’re here to say: We are through waiting. It’s time for our laws to catch up with our science. We can’t take one step forward in science - but two steps backwards in civil rights.”

- Tom Daschle- Tom Daschle

Pending LegislationPending Legislation

Genetic Nondiscrimination in Health Genetic Nondiscrimination in Health Insurance and Employment Act Insurance and Employment Act – Prevents work place discriminationPrevents work place discrimination– Prevents discrimination by health Prevents discrimination by health

insurersinsurers– Makes it unlawful to request, collect, Makes it unlawful to request, collect,

require or purchase genetic informationrequire or purchase genetic information

Genetic Information Genetic Information Nondiscrimination Act of 2002' Nondiscrimination Act of 2002'

Amendments to existing work place Amendments to existing work place and Health Insurance Actsand Health Insurance Acts

Explicitly limits the disclosure of Explicitly limits the disclosure of genetic information to third partiesgenetic information to third parties

Proposed LegislationProposed Legislation

The Genetic Privacy ActThe Genetic Privacy Act Stand Alone legislationStand Alone legislation Proposed by Health Law Department, Proposed by Health Law Department,

Boston University School of Public HealthBoston University School of Public Health Rights of Individual:Rights of Individual:

– Right to control one’s own genetic infoRight to control one’s own genetic info– Consent of individual for collection of genetic Consent of individual for collection of genetic

data for research purposedata for research purpose– Individual can have his/her genetic information Individual can have his/her genetic information

deleted and samples destroyeddeleted and samples destroyed

Genetic Privacy Act (cont’d)Genetic Privacy Act (cont’d)

ExceptionsExceptions Identifying dead bodiesIdentifying dead bodies For law enforcement purposesFor law enforcement purposes Court ordered analysisCourt ordered analysis Genetic Research – Approval of Genetic Research – Approval of

Institutional Review Board Required Institutional Review Board Required to reveal source identity.to reveal source identity.

State LegislationState Legislation State Law Prohibitions on Genetic

Discrimination in Health Insurance1991 Wisconsin1993 Ohio1994 California, Colorado1995 Georgia, Minnesota, New Hampshire,Oregon1996 Maryland, New Jersey, Virginia

State Legislation (cont’d)State Legislation (cont’d)

1997 Alabama, Arizona, Connecticut, Florida, Hawaii, Illinois, Indiana, Kansas, Louisiana, Maine, Nevada, North Carolina, Ohio, Oklahoma, Tennessee, Texas

1998 Delaware, Kentucky, Missouri, New Mexico, Rhode Island, South Carolina, Vermont

1999 Montana, Washington2000 Massachusetts, Michigan2001 Arkansas, Nebraska

Release FormsRelease Forms

Pages of legal and scientific jargon. Pages of legal and scientific jargon. Do people understand enough to Do people understand enough to

consent?consent? Genetic information released Genetic information released

unknowingly.unknowingly. Defeats the purpose of getting a Defeats the purpose of getting a

consent.consent.

Questions to Ponder On Questions to Ponder On

Are the promises of gene banking and the genetic analysis of diseases worth giving up our DNA or is this just “genohype” ?