LSM1302/GEK1527

Genes & Society

Lecture 17

Section C:
Ethical, Legal & Social Implications

Ethical, Legal and Social Implications

(ELSI)
1.Human Cloning
2. Stem Cell Technology
3. Gene Therapy
4. Patenting
5. Genetic Testing / Screening
6. Human Behavioural Genetics
7. Summary: Societal concerns of new
genetics

Ethical, Legal, Social Implications

ELSI program set up to monitor medical and
public policies regarding, and in consequence
of, genetic and medical research
Safeguard individuals privacy for sequence
studies
address problems of uses and misuses of
genetic data: insurance, job discrimination etc

http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml

Ethical, Legal and Social Implications:

What happened before

http://www.dnai.org/e/index.html

1860s
Francis Galton develops ideas of promoting hereditary
genius through breeding.
It would be quite practicable to produce a highly-gifted
race of men by judicious marriages during several
consecutive generations
1883
coined the term eugenics, meaning well-born.

Early 1900s
Charles Davenport organized eugenics into a
scientific field by applying Mendelian genetics in
agricultural breeding.
Promoted eugenics movement to a national level
in the US.

Pedigrees of the fit and unfit

The pedigree, a chart tracing the
inheritance of one or more traits
through a family, was a primary tool
of eugenics research and
education. After "scoring" each
family member for the presence or
absence of a given trait, the
researcher attempted to discern a
pattern consistent with one of three
basic modes of Mendelian
inheritance dominant, recessive,
or sex-limited (X-linked). Some
eugenical information was
submitted voluntarily on
questionnaires; some was collated
from records of mental hospitals,
prisons, and poorhouses.

Some families were proud to

make known their pedigrees of
intellectual/artistic achievement,
while others sought advice on the
eugenical fitness of proposed
marriages.
The goal was to produce a
gifted elite caste by encouraging
eugenics marriages between
people of good health and high
intelligence.

On the towpath we met

and had to pass a long line
of imbeciles. It was perfectly
horrible. They certainly should
be killed.
- Virginia Woolf

While positive eugenics highlighted

the achievements of "fit" families,
negative eugenics focused on "unfit"
families who were burdened with
degenerate traits such as
feeblemindedness, alcoholism,
pauperism, and criminality.
Led to discrimination and advocate
to prevent reproduction among those
deemed to come from lesser/poorer
genetic stock.
P romoted forcible sterilization of
genetically unfit (1927 US Supreme Court
upholds compulsory sterilization laws in
Buck vs. Bell case; 64,000 people before
finally outlawed in 1970s)
Nazi Germany went further with the
idea to force-sterilized 400,000, to
euthanasia of the disabled and
ultimately holocaust in the name of
racial hygiene

Eugenicists dismissed
any environmental
contribution to their
plight such as poor
housing, nutrition, or
schools and placed
the blame directly on
bad genes.

 By the mid-1930s, the scientific basis of negative

eugenics had been discredited.
The well-documented phenomenon of hybrid
vigor refuted notions of racial superiority
Hardy-Weinberg equilibrium showed that
dysgenic genes do not increase in a population.
Members of Thomas Hunt Morgan's group
showed that the genotype-phenotype
relationship is highly variable
Lionel Penrose found that most cases in a mental
institution in Colchester, England resulted from a
combination of genetic, environmental, and
pathological causes.
After a 1935 panel concluded that the work of
the Eugenics Record Office was without
scientific merit, eugenics research was phased
out, and the facility was closed in December
1939.

In the meantime, eugenics was

gathering steam in Germany

"The final solution":

In 1939, Germany's mental hospitals

became killing fields. Gas
chambers replaced sterilization as
the final solution to the problem of
supporting "lives not worth living."
Hitler read Fischer's textbook Principles of
Human Heredity and Race Hygiene while in
prison at Landsberg and used eugenical
notions to support the ideal of a pure Aryan
society in his manifesto, Mein Kampf (My
Struggle). When he came to power in 1933,
Hitler charged the medical profession with
the task of implementing a national program
of race hygiene a key element of which
was passage of an act permitting involuntary
sterilization of feebleminded, mentally ill,
epileptics, and alcoholics.

What happened beforestill

haunts us today

The rise of the West was not some cultural

accident. It was the direct result of the
evolution of European populations as they
adapted to the geographic and military
conditions of their particular ecological
habitatFrom an evolutionary perspective,
an imminent decline of the West seems
unlikely. Western social behavior, the source
of the open society and open economy
with their rewards to innovation, has been
shaped by evolution as well as by culture
and history and is unlikely to change
anytime soon.

The ethics of human cloning?

When is it acceptable and for whom?
What risks to the fetus are acceptable?
Who should decide?

Is human cloning sometimes OK?

In US has been banned
In UK allowed for research (therapeutic)
- a surprise given the British attitude to GM
foods. It surprised the politicians too..
13

Human
cloning:
The pros, the
cons and the
questions..
Who should
decide
anyway?
14

 C O N T E N T S
Preface by the DirectorGeneral 5
A Brief History of Cloning 7
Recent Development of
Cloning Research on Animals
10
What are the Ethical Issues
regarding Human Cloning? 11
Is Research Cloning different
from Reproductive Cloning?
12
Can Adult Stem Cells replace
Embryonic Stem Cells? 15
Cloning and the International
Community 17
Ongoing Discussion on Ethical
Issues 19
Further Reading and Useful
Resources 19
Check out Supplemental
materials in IVLE
15

Ethical questions:
What if a child dies and only one of the parents wants to
clone who owns the rights to a dead person s DNA??
What if people do not want to be cloned after they die?
Will they be able to insert this into their will?
What if a clone develops unforeseen abnormalities? Could
he sue the cloners for wrongful birth?
If it becomes acceptable to clone a person once, will it
also be acceptable to clone them many times?
What if cloning becomes so popular it supplants natural
selection? This will surely skew the course of evolution.

16

Ethical Issues regarding

Human Reproductive Cloning
Technical and medical safety
Undermining the concept of reproduction
and family
Ambiguous relations of a cloned child with
the progenitor
Confusing personal identity and harming the
psychological development of a clone
Concerns about eugenics
Contrary to Human Dignity
Promoting trends towards designer babies
and human enhancement
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Some questions to ponder with

regard to Stem Cell Research
The questions raised here have no clear right or wrong answer.
Instead, your response will depend on your own set of values, as
well as the opinions of those around you.
How far should researchers take stem cell technologies? Just
because we can do something, should we? Why or why not?
Should the government provide funding for embryonic stem cell
research? Why or why not?
Should there be laws to regulate stem cell research? If so, what
would they look like? For example, how would you regulate
research using different types of stem cells, such as embryonic,
fetal or adult stem cells? What about embryonic stem cells created
using cloning technologies?
Do embryonic stem cells represent a human life? This is an ongoing
debate that brings up the question of when life begins. Should the
embryo or fetus have any rights in the matter? Who has the
authority to decide?
Should frozen embryos created through in vitro fertilization be used
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to create stem cells? Why or why not?

19

Nov 06, 2008

The Straits Times (Singapore)

20

Some questions to ponder

with regard to Gene Therapy
When should gene therapy be used? Should it be used to treat
critically ill patients? Should it be used to treat babies and
children?
What effect would gene therapy have on future generations if
germline (reproductive) cells were genetically altered? How might
this alteration affect human variation?
Who should decide what are "good" or "bad" uses of genetic
modifications? How do you define "normal" with regard to human
beings?
What if we could alter human traits not associated with disease?
Would it be okay to use gene therapy to improve or enhance a
person's genetic profile (genetic enhancement)?
Who will have access to gene therapy, treatments and long-term
follow-ups? Will gene therapy and genetic enhancements create
an advantage for those who can afford it?
21

22

Patenting & Genes

The idea of patenting is that exclusive rights
promote technology by offering incentive to
invest
No worldwide patent and have a limited period
(20 yrs in Singapore)
Cannot patent a theory
1793: Thomas Jefferson (co-founder of US
patent issuing office) declared that one can
get a patent for anything that is made by
humans and is a manufacture or new
23
composition of matter

Patenting of scientific discoveries and of living

organisms
1922 Banting and Macleod patented method of
extracting insulin from animal pancreas (Nobel Prize
1926)

1980 Boyer and Cohen patented use of recombinant

DNA to clone genes in bacteria, plants and animals

1980 Chakrabarty patented his GM bacteria which

could break down oil = FIRST LIVING ORGANISM

1985 Kary Mullis and Cetus patented the PCR reaction

1988 Harvard University patented the oncomouse
GM to be especially susceptible to cancer = FIRST
ANIMAL

24

http://www.ornl.gov/sci/techresources/Human_Genome/elsi/patents.shtml

25

What are patents, and how do they work?

A patent application is judged on four criteria. The invention must
be "useful" in a practical sense (the inventor must identify some
useful purpose for it), "novel" (i.e., not known or used before the
filing), and "nonobvious" (i.e., not an improvement easily made by
someone trained in the relevant area). The invention also must be
described in sufficient detail to enable one skilled in the field to use
it for the stated purpose (sometimes called the "enablement"
criterion).
In general, raw products of nature are not patentable. DNA
products usually become patentable when they have been
isolated, purified, or modified to produce a unique form not found
in nature.
Patents are good for 20 years from filing date. Currently over three
million genome-related patent applications have been filed.
Patenting provides a strategy for protecting inventions without
secrecy. A patent grants the right to exclude others from making,
using, and selling the invention for a limited term, 20 years from
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application filing date in most of the world.

How can a gene be patented?

Actually a gene itself cannot be patented
unless potential specific uses of the
sequences are also stated, i.e for genebased inventions
3 important factors
1. Novelty (supplied by the sequence itself:
novel and non-obvious)
2. Utility (speculation on potential uses: useful)
3. Enough information contained to allow use
of the invention by someone else (i.e the
simple discovery of a gene alone is not
27
enough: enablement)

Using these criteria many of the thousands

of applications of patents for genes will
probably NOT be accepted.
For those that will get accepted the patent
is only for particular use of the gene filed in
the patent and excludes other possible
applications
NOTE that drug development takes a very
long time and pharmaceutical companies
will usually not start unless the drug target
(gene) is patented
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What are some of the potential points

supporting gene patenting?
Researchers are rewarded for their discoveries
and can use monies gained from patenting to
further their research
The investment of resources is encouraged by
providing a monopoly to the inventor and
prohibiting competitors from making, using, or
selling the invention without a license.
Wasteful duplication of effort is prevented.
Research is forced into new, unexplored areas.
Secrecy is reduced and all researchers are
ensured access to the new invention.
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What are some of the potential

arguments against gene patenting?
Patents of partial and uncharacterized cDNA sequences will reward those who
make routine discoveries but penalize those who determine biological
function or application (inappropriate reward given to the easiest step in
the process).
Patents could impede the development of diagnostics and therapeutics by
third parties because of the costs associated with using patented research
data.
Patent stacking (allowing a single genomic sequence to be patented in
several ways such as an EST, a gene, and a SNP) may discourage product
development because of high royalty costs owed to all patent owners of
that sequence; these are costs that will likely be passed on to the
consumer.

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What are some of the potential

arguments against gene patenting?
Because patent applications remain secret until granted, companies may
work on developing a product only to find that new patents have been
granted along the way, with unexpected licensing costs and possible
infringement penalties.
Costs increase not only for paying for patent licensing but also for determining
what patents apply and who has rights to downstream products.
Patent holders are being allowed to patent a part of nature --a basic
constituent of life; this allows one organism to own all or part of another
organism.
Private biotechs who own certain patents can monopolize certain gene test
markets.
Patent filings are replacing journal articles as places for public disclosure -reducing the body of knowledge in the literature.

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Do Patents bring benefits to

Patients?

Hence unless shown to fulfill the 3 criteria for

patenting,
merely having obtained the gene sequence will not
be granted patent.

32

33

Supreme Court ruled that no one could own

humanitys genetic code.
On Thursday, June 13th 2013, the Supreme Court unanimously
ruled that isolated and naturally occurring human genes
cannot be patented. This case was brought to them by the
American Civil Liberties Union (ACLU) who challenged Myriad
Genetic, a molecular diagnostic company, over the right to
patent BRCA1 and BRCA2 genes, which are used to test for
breast and ovarian cancer. The test, though expensive, has
been very successful in determining gene mutations that can
lead to and cause these types of cancers.

The US supreme court has ruled unanimously that

natural human genes cannot be patented, a decision
that scientists and civil rights campaigners said
removed a major barrier to patient care and medical
innovation.
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DNA test & screening

What is it?
Looking for the presence of a mutated gene
within the genome (by Southern blotting or PCR
and DNA sequencing)
Why?
To identify individual at risk- so changes in lifestyle
can help prevent on-set of illness
Help in family planning if parents are carriers
Potential problems of abuse? (insurance
companies, job prospects., marriage
partners.)

35

What are some of the pros

and cons of gene testing?
Gene testing already has dramatically improved lives.
Some tests are used to clarify a diagnosis and direct a
physician toward appropriate treatments, while others
allow families to avoid having children with
devastating diseases or identify people at high risk for
conditions that may be preventable. Aggressive
monitoring for and removal of colon growths in those
inheriting a gene for familial adenomatous polyposis,
for example, has saved many lives.
However, many in the medical establishment feel that
uncertainties surrounding test interpretation, the
current lack of available medical options for these
diseases, the tests' potential for provoking anxiety,
and risks for discrimination and social stigmatization
could outweigh the benefits of testing.
36

Genetic Screeningin cases where

theres no medical treatment?
(e.g. presymptomatic testing for Huntington's disease)

autosomal (not sex linked) dominant;

involuntary movement; depression, cognitive
impairment
mid-life onset neurological disorder (ave: 30-40
yr)
death within 5-10 yrs of onset of symptoms
No treatment is available and it cannot be
prevented by changes in life style
37

Prenatal screening:
Can detect embryos with mutations at a stage where
the pregnancy can be terminated (e.g. Down s
syndrome = extra copy chromosome 21)
As more genes responsible for genetic diseases are
identified, more tests will become available
BUT- where do we draw the line and who decides what
faulty genes should lead to termination of a
pregnancy
On a more extreme level are we opening the doors to
prenatal screening for choosing the sex or other
characteristics in an unborn child?
38

Sperm cells or Embryos Screening to

reduced genetic diseases: Future direction?
Reduced chance of
getting a baby with
sex-linked disease can
be done by sorting
sperm cells carrying X
or Y chromosome
(depend on location
of disease allele)

39

Preimplantation Genetic
Screening
A new technique offers
hope to couples at high
risk of having a baby
with a serious genetic
condition. Doctors can
now carry out genetic
tests on 'test-tube'
embryos - embryos
produced using IVF (in
vitro fertilisation)
techniques. Only
unaffected embryos are
then put back into the
mother's womb to
continue developing.

40

Will genetic screening be abused

In the 1970's, when the gene for sickle cell anemia
was identified - men who tested positive for the gene
were barred from entry to the U.S. Air Force
Academy.
Genetic discrimination in employment was on the
rise. In one case a social worker was abruptly
dismissed when her employer discovered she was at
risk from developing Huntington's disease.
In 1989 an extensive survey of US employers
conducted by the Northwestern Life Insurance
Company revealed that 15 percent planned to
introduce genetic screening of prospective
employees by the year 2000.

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http://www.genome.gov/PolicyEthics/

42

43

http://www.ornl.gov/sci/techresources/Human_Genome/elsi/behavior.shtml#4

44

Human Behavioral Genetics

Human behavioral genetics, a relatively
new field, seeks to understand both the
genetic and environmental
contributions to individual variations in
human behavior.
Researchers in the field of behavioral
genetics have asserted claims for a
genetic basis of numerous physical
behaviors, including homosexuality,
aggression, impulsivity, and nurturing. A
growing scientific and popular focus on
genes and behavior has contributed to
a resurgence of behavioral genetic
determinismthe belief that genetics is
the major factor in determining
behavior.

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No single gene
determines a particular
behavior. Behaviors are
complex traits involving
multiple genes that are
affected by a variety of
other factors
(environmental and
psychological). This fact
often gets overlooked in
media reports hyping
scientific breakthroughs
on gene function, and,
unfortunately, this can
be very misleading to the
public.
46

What social consequences

would genetic diagnoses
of such traits as
intelligence, criminality, or
homosexuality have on
society? What effect would
the discovery of a
behavioral trait associated
with increased criminal
activity have on our legal
system? If we find a "gay
gene," will it mean greater
or lesser tolerance? Will it
lead to proposals that
those affected by the
"disorder" should undergo
treatment to be "cured"
and that measures should
be taken to prevent the
birth of other individuals so
afflicted?
47

Is Homosexuality due to genes (biological)?

http://www.narth.com/docs/hom101.html

48

Summary: Societal Concerns Arising from the New Genetics

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?
Privacy and confidentiality of genetic information.
Who owns and controls genetic information?
Psychological impact and stigmatization due to an
individual's genetic differences.
How does personal genetic information affect an
individual and society's perceptions of that individual?
How does genomic information affect members
of minority communities?
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Summary: Societal Concerns Arising from the New Genetics

Reproductive issues including adequate informed consent for
complex and potentially controversial 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?
How reliable and useful is fetal genetic testing?
What are the larger societal issues raised by new
reproductive technologies?
Clinical issues including the education of doctors and other
health service providers, patients, and the general public in
genetic capabilities, scientific limitations, and social risks; and
implementation of standards and quality-control measures in
testing procedures.
How will genetic tests be evaluated and regulated for
accuracy, reliability, and utility? (Currently, there is little regulation
at the federal level.)
How do we prepare healthcare professionals for the new
genetics?
How do we prepare the public to make informed choices?
How do we as a society balance current scientific limitations
and social risk with long-term benefits?
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Summary: Societal Concerns Arising from the New Genetics

Uncertainties associated with gene tests for
susceptibilities and complex conditions (e.g., heart
disease) linked to multiple genes and geneenvironment interactions.
Should testing be performed when no treatment is
available?
Should parents have the right to have their minor
children tested for adult-onset diseases?
Are genetic tests reliable and interpretable by the
medical community?
Conceptual and philosophical implications regarding
human responsibility, free will vs genetic determinism,
and concepts of health and disease.
Do people's genes make them behave in a
particular way?
Can people always control their behavior?
What is considered acceptable diversity?
Where is the line between medical treatment and
enhancement?
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Summary: Societal Concerns Arising from the New Genetics

Health and environmental issues concerning
genetically modified foods (GM) and microbes.
- Are GM foods and other products safe to humans
and the environment?
- How will these technologies affect developing
nations' dependence on the West?
- Danger of falling into wrong hands.
Commercialization of products including property
rights (patents, copyrights, and trade secrets) and
accessibility of data and materials.
- Who owns genes and other pieces of DNA?
-Will patenting DNA sequences limit their
accessibility and development into useful
products?

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See Supplemental
Materials on IVLE

1. CURRENT DEVELOPMENTS IN
ANIMAL
BIOTECHNOLOGY 1 - 4
Why are genetically modified animals
produced?
Why are animals used instead of
genetically modified microbes or
plants?
UK Regulations
2. MORAL AND ETHICAL CONCERNS 5
-6
How can moral and ethical concerns
be evaluated?
Why do moral and ethical concerns
matter?
3. ANIMAL ETHICS 7 - 10
Animal welfare and the moral
community
Sentiency
Speciesism
The extent of the animal kingdom
4. INTRINSIC CONCERNS
ABOUT ANIMAL BIOTECHNOLOGY 11 16
Religious concerns
Problems with Nature and naturalness
Problems with animals
5. EXTRINSIC CONCERNS ABOUT
ANIMAL BIOTECHNOLOGY 17 - 21
Is animal biotechnology risky?
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Animal welfare