ETH IC A N D G EN ETIC S I

Is there anything special about

genetics?
Uniquely identifies people
Shared with families
Predictive of future health
Easily obtainable
Available before birth
May be of interest to third parties

U ses of G enetic Tests

Diagnostic (adjunctive, prognostic,
treatment)

Predictive (prognostic, intervention,

planning)

Screening (newborn, selected population,

carrier)

Pharmacogenetic (individualized
medicine)

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Three M ain Reasons W hy G enetics is Ethically

Interesting
1. Genetic information often identifies risks of
medical conditions that dont yet affect the
patient
The at risk patient

2. Genetic information is about families as well

as individuals

As such, it sometimes doesnt fit well into our usual

individualistic ways of thinking about consent,

confidentiality, etc.

3. Genetic research is commercially driven to a

very substantial degree

This raises questions about whether it is legitimate to

allow genes to be owned and what people should

expect in return for participating in genetic research

Som e Issues Raised by G enetic

Testing
1. Risks of being tested
2. Problems posed by public

conceptions of genetics
3. Problems with confidentiality &
consent
4. Commodifying our genes

1.Risks ofBeing Tested

Psychological
If positive for a bad mutation:
Burden of knowing you have the predisposition,
particularly if no treatment is available
Genetic determinism: possible overestimation of
likelihood of actually becoming afflicted
The situation with Huntingtons is not typical

If negative:
Evidence of survivor guilt in some cases
Possible over-confidence
E.g., thinking you wont get breast cancer because
your test for BRCA1 & 2 came out OK

M ore Risks ofBeing Tested

Practical

Employment
Life insurance
Health Insurance (more important in US)

Is it fair for companies to take genetic

information into account when making

hiring decisions or decisions about whether
to insure a person?

Do these risks justify being paternalistic

regarding who is given a genetic test, as

DeGrazia suggests (pp. 474-490)?

Traditionally, tests have not been given without

genetic counselling, although this is likely to

change.

2.Popular Beliefs about

G enetics
Genetic Determinism: The common

misconception that all genes work like the

gene for Huntingtons, i.e., the idea that
having a particular gene will guarantee having
a particular trait
Huntingtons is an atypical example
For the most part, having a particular gene mutation

will just increase your chance of developing some

trait, not guarantee it.

Furthermore, most genetic conditions are the result

of a number of different gene mutations (as well as

interactions with the environment)

3.Confi
dentiality & Consent
In medical ethics, a great deal of importance

is placed on the idea of individual informed

consent
One aspect of this is that your personal health

information is not supposed to be released without

your consent

But the nature of genetic information sometimes

gets in the way of this

Finding out genetic information about you also

reveals genetic information about the people youre

related to

Case:Confi
dentiality &
H untingtons
Suppose there is a known history of Huntingtons in

your family, but you dont want to know whether you

personally carry a mutation for Huntingtons.

Your son does, however. He gets tested and discovers

that he has a mutation for Huntingtons.

This almost guarantees that you also carry such a

mutation.

We have discovered personal information about you

without your consent

How should we deal with this?

Should we put restrictions on who your son can reveal this
information to?

Confi
dentiality & D uty to W arn
Most ethicists agree that, while confidentiality is

important, there are situations in which

confidentiality can be broken

The most common example involves a duty to

warn

E.g., a psychiatrist who is told by one of his patients that

the patient plans to kill his wife tomorrow

Is there a genetic duty to warn?

Must we warn family members who are at risk?
Should we warn employers if a person possesses a genetic

mutation that may someday pose a threat?

E.g., the bus driver at high genetic risk of heart failure

Case Study: BRCA 1 & 2

About 5-10% of breast cancer is

thought to be hereditary

It has been discovered that those

women with particular mutations in

the BRCA 1 or 2 gene are at an
elevated risk of contracting breast
cancer
Without these mutations: 2% by age 50,
7% by age 70
With the mutations: 33-50% by age 50,
56-87% by age 70
Note: information is from Myriad
Genetics website

4.Com m odifying G enes

The Myriad example raises a number

of questions regarding the

commercialization of genetic
research
Is gene patenting ethically acceptable?
If our genes are a valuable commercial

resource, should we be paid for them?

Are genes property or person?

D efi
nitions
Genetic Profiling
Using technology that interrogates the
whole genome to develop a profile of
a large set of genetic information that
provides information about complex
phenotypes
Personalized Medicine
Using information to tailor health
interventions specifically to individuals

The Current Realities

Results from genome wide association studies

are being published for complex traits

These results will be reported/interpreted as
identifying genetic profiles for disease
risk/susceptibility
Some results will be replicated, some not
Consumers will be able to get genetic profile
data from:
Direct-to-Consumer Genetic Testing (e.g. 23andme)
Whole genome/targeted sequencing

W ho w illhave this
inform ation?
Near Future:
Participants in GWAS/Sequencing Studies
People who order Direct-to-Consumer products
(23andme, DNA Direct, others)
More Distant Future:
Patients with specific disorders may possibly
obtain data through clinical tests
Who will not have this information?
Low-income patients/patients without
insurance
Individuals in the developing world

Predictive testing in children

3 key arguments against testing:
1. Testing fails to respect future autonomy
2. Testing young people breaches
confidentiality
3. Testing may cause psychological harms
Family bonds
Impact on self-esteem and feelings of
adequacy

But: little empirical evidence for

either position

Prenataltesting & m inorconditions

Traditionally, PND offered for serious

genetic diseases
Early onset, poor prognosis, low quality of life

Now: less risk in testing; more genes known

PND sometimes offered for:
achondroplasia, deafness, BRCA

What should be taken into account in

deciding whether to perform PND?

Medical opinion?
The lived experience of the condition?

M isattributed Paternity
Genetic testing sometimes throws up

unexpected information, eg misattributed

paternity
Should people be given unexpected nonmedical information they have not
requested?
Increase autonomy by having full information?
Fathers right to know?
Potential for harm?
Scope of clinical genetics services?

Who should be told?

C ontext

Issues
Ethical
Legal
Social

Actions
Regulatory
Legal
Social