Human Genome Project : Impact on Genetic Privacy and

Ethical and Policy Challenges to Ethical and Policy Challenges to Clinical Application of Advanced Clinical Application of Advanced

Genetic Screening TechnologyGenetic Screening Technology

Edward RB McCabe, MD, PhDEdward RB McCabe, MD, PhDPhysician-in-Chief, Mattel Children’s Hospital at UCLAPhysician-in-Chief, Mattel Children’s Hospital at UCLA

Professor, Departments of Pediatrics and Human GeneticsProfessor, Departments of Pediatrics and Human GeneticsDirector, UCLA Center for Society, the Individual and GeneticsDirector, UCLA Center for Society, the Individual and Genetics

http://www.arc2.ucla.edu/csig/http://www.arc2.ucla.edu/csig/

Genomic MedicineGenomic Medicine

• Anticipatory, not reactiveAnticipatory, not reactive• Predictive and preventivePredictive and preventive• Knowledge from genomics and derivative Knowledge from genomics and derivative

disciplinesdisciplines• Screening of individuals and populationsScreening of individuals and populations• New analytical technologies and New analytical technologies and

bioinformatic approaches bioinformatic approaches

Genomic Medicine: ChallengesGenomic Medicine: Challenges

• Requires change in cultureRequires change in culture– PractitionersPractitioners

• Preventive medicine approachPreventive medicine approach• Less independenceLess independence

– PopulationPopulation• LifestyleLifestyle• Participation in large clinical trialsParticipation in large clinical trials


• Requires change in medical data analysisRequires change in medical data analysis– Driven by lab data not knowledge (at least Driven by lab data not knowledge (at least

initially) of pathogenesis initially) of pathogenesis – Huge amount of informationHuge amount of information– Pattern recognitionPattern recognition


• Requires change in diagnostic approachRequires change in diagnostic approach– Trust in unseen algorithmsTrust in unseen algorithms– Evaluation of matrices and dynamic complex Evaluation of matrices and dynamic complex

systems, not linear pathwayssystems, not linear pathways– Less hypothesis-driven and increasing Less hypothesis-driven and increasing

reliance on protocols reliance on protocols

Genomic Medicine: Genomic Medicine: ConsequencesConsequences

• Balance between art and science will shift Balance between art and science will shift toward the science, at least in the toward the science, at least in the predictive screening and diagnostic areaspredictive screening and diagnostic areas

• Cannot lose the art of medicine, because Cannot lose the art of medicine, because that will be essential for successful that will be essential for successful implementation of preventive and implementation of preventive and therapeutic measurestherapeutic measures

Genomic Medicine: Genomic Medicine: ConsequencesConsequences

• Reduction of the burden of chronic illnessReduction of the burden of chronic illness• Decrease in the prevalence of common Decrease in the prevalence of common

complex diseasescomplex diseases• Increase in health disparities between Increase in health disparities between

those with and without access to genomic those with and without access to genomic medicine medicine

• Technological spin-offs in other areas of Technological spin-offs in other areas of medicine including infectious diseasesmedicine including infectious diseases

How Have We Gotten Here How Have We Gotten Here and What Have We Already and What Have We Already

Learned?Learned?

Watson and Crick, May 1953Watson and Crick, May 1953From Olby, The Path to the Double Helix, 1974From Olby, The Path to the Double Helix, 1974

Human Genome ProjectHuman Genome Project

• Initiated 1990 Initiated 1990 • Completion originally planned for 2005Completion originally planned for 2005• Finished sequence anticipated Spring, Finished sequence anticipated Spring,

2003, to commemorate the 502003, to commemorate the 50thth Anniversary of Watson and Crick Anniversary of Watson and Crick publication (Nature 171: 737-738, April publication (Nature 171: 737-738, April 25, 1953)25, 1953)

Human Genome ProjectHuman Genome Project

• ResultsResults– Complete sequencing of the Human GenomeComplete sequencing of the Human Genome– New branch of science and medicine – New branch of science and medicine –

GenomicsGenomics

What Is a Genome?What Is a Genome?

• Genome: All of the DNA for an Genome: All of the DNA for an organismorganism

• Human GenomeHuman Genome– Nucleus: 3.2 billion base pairs packaged into Nucleus: 3.2 billion base pairs packaged into

chromosomes chromosomes – Mitochondrion: 16,600 base pairs packaged Mitochondrion: 16,600 base pairs packaged

in one circular chromosomein one circular chromosome

Genomics: Derivative DisciplinesGenomics: Derivative Disciplines

• TranscriptomicsTranscriptomics– Transcript is an RNA copy of a gene Transcript is an RNA copy of a gene – Transcriptome is all RNA gene copies Transcriptome is all RNA gene copies

in a cell, tissue or individualin a cell, tissue or individual• ProteomicsProteomics

– Proteome is all proteins in a cell, tissue Proteome is all proteins in a cell, tissue or individualor individual

Genomics: Derivative DisciplinesGenomics: Derivative Disciplines

• MetabolomicsMetabolomics– Metabolome is all of the small molecule Metabolome is all of the small molecule

components of a cell, tissue or components of a cell, tissue or individual that are produced by the individual that are produced by the proteins of the proteome proteins of the proteome

Thorough Understanding of Thorough Understanding of Genomics Genomics

Will generate Will generate the complete parts lists andthe complete parts lists and

the parts’ assembly directionsthe parts’ assembly directionsfor fully functioning organismsfor fully functioning organisms

What have we already learned What have we already learned from genetics and genomics?from genetics and genomics?

We are not the center of the We are not the center of the biosphere!biosphere!

Aristotle, Ptolemy, and Copernicus

Galileo Galilei. Dialogo… Tolemaico, e Copernicano… Florence, 1632

Homeobox GenesHomeobox Genes

There is No Biological Basis for There is No Biological Basis for the Concept of Race!the Concept of Race!

• There is more genetic variation within There is more genetic variation within ethno-cultural groups than there is ethno-cultural groups than there is between thembetween them

• Therefore, even the terminology “race” is Therefore, even the terminology “race” is erroneous conceptually erroneous conceptually

• Corollary:Corollary:– There is no biological basis for racismThere is no biological basis for racism

Even Our Ethno-Cultural Even Our Ethno-Cultural Identity May Be Challenged by Identity May Be Challenged by

Genetics/Genomics Genetics/Genomics • For many of us, our knowledge of our heritage For many of us, our knowledge of our heritage

is quite limitedis quite limited– Three-generation pedigreesThree-generation pedigrees– SurnamesSurnames– Family loreFamily lore

• Therefore, we may be open for surprises if Therefore, we may be open for surprises if genetic/genomic technologies ever allow genetic/genomic technologies ever allow accurate evaluation of biological inheritanceaccurate evaluation of biological inheritance

Even the Concept of Two Sexes Even the Concept of Two Sexes Lacks Biological Rigor!Lacks Biological Rigor!

• The dichotomous (male/female) concept The dichotomous (male/female) concept of gender denies modern genetic and of gender denies modern genetic and social observationssocial observations

• An individual’s sex may be defined in An individual’s sex may be defined in various ways, and they may not all be various ways, and they may not all be synchronous for a specific individualsynchronous for a specific individual

Modern Concepts of Modern Concepts of Sex/GenderSex/Gender

• Sex of rearingSex of rearing• Genital sexGenital sex• Chromosomal sexChromosomal sex• Genetic sexGenetic sex• Legal sexLegal sex• Gender identityGender identity

Modern Concepts of Modern Concepts of Sex/GenderSex/Gender

• Even biological concepts of sex/gender indicate Even biological concepts of sex/gender indicate a continuum and not a dichotomya continuum and not a dichotomy

• There may be a conflict in sexual assignments There may be a conflict in sexual assignments even when using biological criteria, e.g.:even when using biological criteria, e.g.:– 46,XY female: SRY46,XY female: SRY--

– 46,XX male: SRY46,XX male: SRY++

– 46,XY(SRY46,XY(SRY++) female: DAX1 duplication) female: DAX1 duplication

What have we already learned What have we already learned from genetics and genomics?from genetics and genomics?

• Fundamental and well-accepted concepts Fundamental and well-accepted concepts are not supported by the lessons from are not supported by the lessons from modern genetics and genomicsmodern genetics and genomics

• If we must re-think our position in the If we must re-think our position in the biosphere, and our ethno-cultural and biosphere, and our ethno-cultural and sexual identities, then how else will sexual identities, then how else will genomics and genetics influence our genomics and genetics influence our concepts of self?concepts of self?

Influence of Genetics/Genomics Influence of Genetics/Genomics on Concepts of Diseaseon Concepts of Disease

• All disease has one or more genetic All disease has one or more genetic componentscomponents

• Therefore, we are all at risk for genetic Therefore, we are all at risk for genetic diseasesdiseases

• If we accept these statements, then there is If we accept these statements, then there is no basis for genetic discrimination, since no basis for genetic discrimination, since we are all in the same risk poolwe are all in the same risk pool

• But the insurance industry is based on the But the insurance industry is based on the ability to discriminate and assign riskability to discriminate and assign risk

Influence of Genetics/Genomics Influence of Genetics/Genomics on Concepts of Diseaseon Concepts of Disease

• At this point in the evolution of our knowledge, At this point in the evolution of our knowledge, we have the information to permit us to identify we have the information to permit us to identify predisposition to certain relatively rare genetic predisposition to certain relatively rare genetic diseases, e.g., CF, Huntington disease, etc.diseases, e.g., CF, Huntington disease, etc.

• The burden of genetic disease, however, is The burden of genetic disease, however, is among all of us with predisposition to common, among all of us with predisposition to common, complex genetic disease, e.g., cancer, complex genetic disease, e.g., cancer, cardiovascular disease, diabetes mellitus, etc.cardiovascular disease, diabetes mellitus, etc.

Manhattan Project of BiologyManhattan Project of Biology• ““We have just come through the We have just come through the

Manhattan project of biology. Let’s get Manhattan project of biology. Let’s get it right this time!” Al Carnesale, it right this time!” Al Carnesale, Chancellor, UCLAChancellor, UCLA– Ethical, Legal and Social Issues (ELSI) Ethical, Legal and Social Issues (ELSI)

Program, NIHProgram, NIH– UCLA Center for Society, the Individual and UCLA Center for Society, the Individual and

GeneticsGenetics– US DHHS Secretary’s Advisory Committee US DHHS Secretary’s Advisory Committee

on Genetic Testing (SACGT) and on Genetic Testing (SACGT) and Secretary’s Advisory Committee on Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS)Genetics, Health and Society (SACGHS)

Small Businesses and Small Businesses and Health InsuranceHealth Insurance

A patient who works for a small self-A patient who works for a small self-insured company has a positive family insured company has a positive family history for emphysema on both her history for emphysema on both her mother’s and her father’s sides. Her mother’s and her father’s sides. Her

physician recommends that she physician recommends that she have a have a number of tests performed, number of tests performed, includingincluding one for one for 1-antitrypsin 1-antitrypsin ((1AT). 1AT).


When the When the 1AT test is reported to be 1AT test is reported to be abnormal, he tells her that this may abnormal, he tells her that this may explain the emphysema in her family explain the emphysema in her family and and places her at very high risk for this places her at very high risk for this lung disease. lung disease. Her physician reports the Her physician reports the results of his results of his evaluation to her evaluation to her insurance company as insurance company as required. required. Several days later she is called Several days later she is called into into the office of her employer and fired.the office of her employer and fired.


• Actual case: Patient had symptoms at time of Actual case: Patient had symptoms at time of testingtesting

• Commissioner Paul Miller, EEOC, argued this Commissioner Paul Miller, EEOC, argued this case under ADAcase under ADA

• Settled in favor of employeeSettled in favor of employee• Remains to be determined whether an Remains to be determined whether an

abnormal test result in the absence of physical abnormal test result in the absence of physical signs and symptoms would be covered by ADAsigns and symptoms would be covered by ADA

Invasion of Genetic PrivacyInvasion of Genetic Privacy

Workers for Burlington Northern Railroad Workers for Burlington Northern Railroad gave blood sample as part of company physical gave blood sample as part of company physical examination. Portion of sample sent to a examination. Portion of sample sent to a private laboratory for private laboratory for PMP22PMP22 (Peripheral (Peripheral Myelin Protein-22) deletion testing. This Myelin Protein-22) deletion testing. This deletion is associated with HNPP (Hereditary deletion is associated with HNPP (Hereditary Neuropathy with liability to Pressure Palsies), a Neuropathy with liability to Pressure Palsies), a slowly progressive neuropathy that may slowly progressive neuropathy that may present with carpal tunnel syndrome. present with carpal tunnel syndrome.


Workers did not know genetic testing for Workers did not know genetic testing for HNPP was being done and did not HNPP was being done and did not provide consent for testing. Union provide consent for testing. Union brought suit against BNRR and testing brought suit against BNRR and testing was stopped.was stopped.


• Informed consent has been recommended Informed consent has been recommended for all genetic testingfor all genetic testing

• There needs to be a firm evidence-base There needs to be a firm evidence-base for any genetic test to move into the for any genetic test to move into the clinical arenaclinical arena

• Therefore, “labeling” of genetic tests is Therefore, “labeling” of genetic tests is essential for health professionals and essential for health professionals and their patientstheir patients

Direct-to-Consumer Marketing Direct-to-Consumer Marketing of Genetic Testingof Genetic Testing

A 25 y.o. with a very strong positive A 25 y.o. with a very strong positive family history of breast cancer (mother, family history of breast cancer (mother, maternal aunt, maternal great aunt, all maternal aunt, maternal great aunt, all with presentation before age 40) sees a with presentation before age 40) sees a DTC ad for DTC ad for BRCA1BRCA1 and and BRCA2BRCA2 testing. testing. Testing was not performed on her Testing was not performed on her mother, who died in 1987. This woman is mother, who died in 1987. This woman is one of three sisters. one of three sisters.


The cost of testing these two genes is The cost of testing these two genes is $2,800 without a known mutation. She $2,800 without a known mutation. She elects to pay this out-of-pocket to avoid elects to pay this out-of-pocket to avoid informing her primary care physician informing her primary care physician and insurance company of the testing. and insurance company of the testing.


• If a mutation is identified:If a mutation is identified:– Consideration of interventionsConsideration of interventions– Discussions with sisters and other relativesDiscussions with sisters and other relatives– Impact on health insuranceImpact on health insurance

• If no mutation is identified:If no mutation is identified:– Influence on medical decision-makingInfluence on medical decision-making– Discussions with sisters and other relativesDiscussions with sisters and other relatives– Impact on health insuranceImpact on health insurance


Zitner, LA Times, Sunday, August 11, 2002Zitner, LA Times, Sunday, August 11, 2002

• DTC genetic testing for:DTC genetic testing for:– Drug metabolizing enzymesDrug metabolizing enzymes– Vitamin mix selectionVitamin mix selection– Personalized health and nutritional advice Personalized health and nutritional advice

(e.g., MTHFR)(e.g., MTHFR)– Hereditary hemochromatosisHereditary hemochromatosis– Cystic fibrosisCystic fibrosis– Factor V LeidenFactor V Leiden


• Home genetic testingHome genetic testing– Equipment under development by several Equipment under development by several

companiescompanies– Determining market at this timeDetermining market at this time

• What will be role of health care provider What will be role of health care provider in test interpretation?in test interpretation?

Biological agent

Genetic material

Proteins, IonsDNA micro sensor array

4 inches

GeneFluidics’ SolutionGeneFluidics’ SolutionBiofluidic chip

1.2 inches

The $1,000 GenomeThe $1,000 Genome

• AcquisitionAcquisition– Error rateError rate

• InterpretationInterpretation– Lack of evidence-baseLack of evidence-base

• PrivacyPrivacy– Information storageInformation storage

• DiscriminationDiscrimination– Abnormality vs. normal variationAbnormality vs. normal variation

Storefront GenomeStorefront Genome

UCLAUCLAJanuary 26, 2003January 26, 2003

9 am – 5 pm 9 am – 5 pm Sunset Village Conference CenterSunset Village Conference Center

http://www.arc2.ucla.edu/csig/ http://www.arc2.ucla.edu/csig/

Changing ClinicsChanging Clinics

A family has a 5 yo who has a rare A family has a 5 yo who has a rare genetic disease and has been followed in genetic disease and has been followed in the same clinic since she was diagnosed in the same clinic since she was diagnosed in the neonatal period. They move to a new the neonatal period. They move to a new state and are told that the care will be state and are told that the care will be altered significantly because this new altered significantly because this new clinic has a different approach to clinic has a different approach to management.management.

Reasons for Differing Clinical Reasons for Differing Clinical Practices in Medical GeneticsPractices in Medical Genetics

• Practice of medicinePractice of medicine– ““An art not a science”An art not a science”– Practitioner-basedPractitioner-based– Not subject to regulationNot subject to regulation

• Case series for most rare genetic diseasesCase series for most rare genetic diseases– Quite smallQuite small– Not organized for iterative improvementNot organized for iterative improvement

Collaborative, Multi-Institutional, Collaborative, Multi-Institutional, Protocol-Driven Clinical StudiesProtocol-Driven Clinical Studies

• An approach to make progress toward a An approach to make progress toward a sound evidence-base when individual sound evidence-base when individual patients are rarepatients are rare

• Example from genetic diseaseExample from genetic disease– Double blinded study of the value of Double blinded study of the value of

penicillin prophylaxis for Sickle Cell Disease penicillin prophylaxis for Sickle Cell Disease (Gaston et al, NEJM 1986) (Gaston et al, NEJM 1986)


• Children’s Oncology Group: Most Children’s Oncology Group: Most successful example successful example – At least 85% of children with cancer enrolled At least 85% of children with cancer enrolled

in research protocolsin research protocols– Permits an iterative approach to Permits an iterative approach to

interventional changes interventional changes – Credited with success of pediatric cancer Credited with success of pediatric cancer

outcomesoutcomes

Multitude of Genotypes Even for Multitude of Genotypes Even for “Common Disease” Phenotypes“Common Disease” Phenotypes

• Since complexity is the rule for “simple” Since complexity is the rule for “simple” Mendelian traits as well as “common” Mendelian traits as well as “common” disordersdisorders

• Therefore, the rare and common disorders will Therefore, the rare and common disorders will both be composed of individuals with rare both be composed of individuals with rare composite genotypescomposite genotypes

• Consequence: We can develop similar Consequence: We can develop similar approaches for acquisition of an evidence-base approaches for acquisition of an evidence-base across genetic diseases across genetic diseases


• The highly individualistic approach that The highly individualistic approach that provides the medical geneticist with provides the medical geneticist with management autonomy delays progress management autonomy delays progress unnecessarilyunnecessarily

• An organized national approach will requireAn organized national approach will require– Buy-in by the medical genetics communityBuy-in by the medical genetics community– Resources to support protocols Resources to support protocols

Participation of Normal Participation of Normal Individuals in Large StudiesIndividuals in Large Studies

You are asked to enroll in a genetic You are asked to enroll in a genetic predisposition study. It will include those predisposition study. It will include those who agree to participate from at least who agree to participate from at least 500,000 individuals who have been 500,000 individuals who have been selected randomly. Participants will selected randomly. Participants will answer a detailed questionnaire and will answer a detailed questionnaire and will have mutation analysis performed for the have mutation analysis performed for the gene of interest. gene of interest.

Participation of Normal Participation of Normal Individuals in Large StudiesIndividuals in Large Studies

Participants will be followed throughout Participants will be followed throughout their lives to determine whether or not their lives to determine whether or not they develop this or any related diseases.they develop this or any related diseases.

Large Clinical StudiesLarge Clinical Studies

• PopulationPopulation– Representative?Representative?– Biased?Biased?

• Data releaseData release– Participants?Participants?– Health care providers?Health care providers?– Insurance providers?Insurance providers?


• MonetaryMonetary– Source of support for trial?Source of support for trial?– Payment for medical care?Payment for medical care?

• Uniformity Uniformity – Diagnostic criteria?Diagnostic criteria?– Practitioner training?Practitioner training?– Ongoing data collection?Ongoing data collection?


• Hemochromatosis studyHemochromatosis study• Cystic fibrosis newborn screening studiesCystic fibrosis newborn screening studies

– ColoradoColorado– WisconsinWisconsin

• California tandem mass spectrometry California tandem mass spectrometry pilot pilot

Genetic Census: UK BiobankGenetic Census: UK BiobankKinkead, NY Times: Dec 31, 2002Kinkead, NY Times: Dec 31, 2002

• Planning initiated 1999Planning initiated 1999• Will begin in 2003Will begin in 2003• Goal over next 10-20 yrsGoal over next 10-20 yrs

– To investigate role of genes and environment To investigate role of genes and environment in common diseasesin common diseases

– Planned in anticipation of time when Planned in anticipation of time when individuals will be able to sequence their individuals will be able to sequence their genomes and will want to know the genomes and will want to know the implications for their disease riskimplications for their disease risk


• Project costProject cost– $120M$120M– Financed by UK government, the Wellcome Financed by UK government, the Wellcome

Trust, and Medical Research CouncilTrust, and Medical Research Council


• 1.2M healthy individuals ages 45-69 yrs will 1.2M healthy individuals ages 45-69 yrs will contribute blood specimenscontribute blood specimens– DNA will be prepared and frozenDNA will be prepared and frozen

• 500,000 individuals will be chosen to be 500,000 individuals will be chosen to be followed for 10 yrs through NHS recordsfollowed for 10 yrs through NHS records

• At intake At intake – 10 page comprehensive questionnaire10 page comprehensive questionnaire– 10 day diet diary10 day diet diary– Brief health examBrief health exam


• Data separate from NHS recordData separate from NHS record– Anonymous but not completelyAnonymous but not completely– Updates possible from physicians and new Updates possible from physicians and new

questionnairesquestionnaires• Anticipate by 2014Anticipate by 2014

– 40,175 will have cancer, diabetes, heart 40,175 will have cancer, diabetes, heart disease or strokedisease or stroke

– 6,200 will have dementia, hip fractures, 6,200 will have dementia, hip fractures, Parkinson disease or rheumatoid arthritis Parkinson disease or rheumatoid arthritis


• Single nucleotide polymorphisms (SNPs) Single nucleotide polymorphisms (SNPs) will be analyzed will be analyzed

• Will compare SNPs with epidemiologic Will compare SNPs with epidemiologic informationinformation

• Milburn, UK Health Secretary:Milburn, UK Health Secretary:– “…“…flagship project on molecular flagship project on molecular

epidemiology for the new century.” epidemiology for the new century.”


• Has been slow to start because of ethical Has been slow to start because of ethical concernsconcerns

• Critics:Critics:– Individuals will be exploitedIndividuals will be exploited– Privacy will be invadedPrivacy will be invaded– Access by courts and pharmaceutical Access by courts and pharmaceutical

companiescompanies– Studies to be permitted not fully defined Studies to be permitted not fully defined

Other Genetic Database ProjectsOther Genetic Database ProjectsKinkead, NY Times: Dec 31, 2002Kinkead, NY Times: Dec 31, 2002

• 1970’s1970’s– Nurse’s Health 121,701Nurse’s Health 121,701

• 1980’s 1980’s – Sweden 80,000Sweden 80,000– Framingham, MA >4,000Framingham, MA >4,000– Am Cancer Society 110,000 Am Cancer Society 110,000

Other Genetic Database ProjectsOther Genetic Database ProjectsKinkead, NY Times: Dec 31, 2002Kinkead, NY Times: Dec 31, 2002

• 19921992– Epic (10 European countries) 520,000Epic (10 European countries) 520,000

• 20022002– Marshfield, WI (Personalized Medicine Marshfield, WI (Personalized Medicine

Project) 42,000Project) 42,000• 2003-20052003-2005

– 7 projects planned with 50,000 to 1M each7 projects planned with 50,000 to 1M each

Cloning HumansCloning Humans

On December 27, 2002, at a press On December 27, 2002, at a press conference at a Holiday Inn in conference at a Holiday Inn in Hollywood, FL, the birth of a healthy 7 lb Hollywood, FL, the birth of a healthy 7 lb baby girl on December 26, 2002, was baby girl on December 26, 2002, was announced. Nicknamed Eve, the baby announced. Nicknamed Eve, the baby was born at an undisclosed location was born at an undisclosed location outside of the USA to a 31 yo American outside of the USA to a 31 yo American woman from whom Eve was cloned.woman from whom Eve was cloned.


The announcement of the birth of the The announcement of the birth of the first cloned human was made by Dr. first cloned human was made by Dr. Brigitte Boisselier, a chemist and the Brigitte Boisselier, a chemist and the head of a private company, Clonaid. She head of a private company, Clonaid. She said that four other women were said that four other women were pregnant with Clonaid-created clones, pregnant with Clonaid-created clones, and 20 more women were scheduled for and 20 more women were scheduled for implantation of cloned fetuses in implantation of cloned fetuses in January, 2003. January, 2003.


Clonaid was founded by Claude Clonaid was founded by Claude Vorilhon, a former race car driver. He Vorilhon, a former race car driver. He also formed the Raalso formed the Raëlians, a worldwide ëlians, a worldwide “atheistic religion” of 55,000 followers. “atheistic religion” of 55,000 followers. They believe that memories and They believe that memories and consciousness transfer from an individual consciousness transfer from an individual to their clone, and therefore cloning is the to their clone, and therefore cloning is the path to eternal life.path to eternal life.


• Two additional groups have claimed that Two additional groups have claimed that they they are close to creating human they they are close to creating human clonesclones

• No other primate has been clonedNo other primate has been cloned• Health risks well documented for other Health risks well documented for other

mammalsmammals– ClonesClones– MothersMothers


• IOM committee reportIOM committee report– Reproductive cloning should be banned with Reproductive cloning should be banned with

criminal penalties because of risks criminal penalties because of risks – Therapeutic cloning should be encouragedTherapeutic cloning should be encouraged– The issue of cloning and the data from other The issue of cloning and the data from other

mammals should be re-evaluated in 3-5 mammals should be re-evaluated in 3-5 years years

SummarySummary

• Genomic Medicine Genomic Medicine – Offers great promise Offers great promise – Also significant challengesAlso significant challenges

• Will require significant changes byWill require significant changes by– Practitioners Practitioners – PublicPublic

SummarySummary

• Genomic medicine will foster significant Genomic medicine will foster significant tension between the art and science of tension between the art and science of medicinemedicine

• Incredibly complex technology will Incredibly complex technology will require Medical Genetics expertiserequire Medical Genetics expertise– Analogy with Radiology and imaging Analogy with Radiology and imaging

technologies: Used by all areas of medicine technologies: Used by all areas of medicine but need specialists knowledgeable in the but need specialists knowledgeable in the technological fine points technological fine points

Documents

Human Genome Project : Impact on Genetic Privacy and