There are more things in heaven and
earth, Horatio, than are dreamt of in your
philosophy.
Hamlet, Act 1, Scene V.
Marek Vácha
2014
FOUR YEARS WITH ETHICS II.
„TAKE-HOME MESSAGES“
THIRD YEAR
2014
HUMAN GENOME: A BRIEF
HISTORY
 Perhaps you have heard the joke about the
guy whose keys fell out of his coat pocket
late at night on a darkened street. Realizing
later that he was without his keys, he began
searching. His companions were surprised to
find him searching vainly injust one place –
under the streetlight. Asked why he was
limiting his search, he explained, „Anyone
knows you can´t find your keys where there´s
no light.“
 Sadly, the candidate gene strategy
generally suffered the same fate – and we
didn´t find keys.
 Why couldn´t this be done more
systematically? Why couldn´t we light up
the whole street?
BRIEF HISTORY
 june 1986, Cold Spring Harbor, symposium
on „The Molecular Biology of Homo sapiens“
 the idea has been discussed for the first time in
front of a large audience, more than 300 of the
world´s top human geneticists and molecular
biologists
 Walter Gilbert´s estimate that the project could
cost $ 3 billion ($ 1 per base) caused uproar:
many of his listeners assumed that funding for
biological research would essentially be diverted
to this one goal, leaving nothing for the traditional,
bottom-up approach to science funding that
favoured individual innovation

Sulston, J., Ferry, G., (2003) The Common Thread. A Story of Science, Politics, Ethics and
the Human Genome. Gorgi Books, London. p. 74
Three Stage Approach
Whole-genom shotgun approach
Celera Genomics
The Ethics of Genome Sequence Publications
 2003:
 this community database (EMBL-
bank/GenBank/DDBJ)
 contains over 40 billion bp of sequence
 from over 100 000 different organism
 All three databases implemented a policy
that was both courageous and
foresighted: to make all of their data freely
available to all (whether they be
companies, academics or „John Smith“)
The Ethics of Genome Sequence Publications
 By the late 1980s most reputable scientific
journals were demanding deposition of
sequence data in this database as a precondition for the publication of a scientific paper.
 This immediately gave rise to a conflict:
commercial companies (and some academics)
saw their DNA sequence data as a intelectual
property that might be turned into money. They
were often reluctant to make their data freely
available, since this might both compromise
patent protection and reduce value of their
„property“.
Bermuda Agreement 1996
 = all data from the Human Genome
Project will be deposited in the public
sequence databanks
 each sequencing center will release its
own data every day
 Open access and early release mean that
anyone in the worldwide biological
community can use those data and turn
them into biological understanding and
ultimately into new inventions that can be
patented.
 But the sequence itself in its raw form
when publicly released becomes
unpatentable.

Sulston, J., Ferry, G., (2003) The Common Thread. A Story of Science, Politics,
Ethics and the Human Genome. Gorgi Books, London
Jim Watson
 „As I saw it, Craig wanted to own the
human genome the way Hitler wanted to
own the world“

Sulston, J., Ferry, G., (2003) The Common Thread. A Story of Science, Politics, Ethics and
the Human Genome. Gorgi Books, London
 Francis offered apologies all ound – but he
then said bluntly that 1999 was going to be a
make-or-break year. There was no doubt that
Celera would announce that the genome was
„complete“ within little more than a year, and
that Congress was under real pressure from
some quarerrs to shut down the publicly
funded genome effort. The only hope was to
move fast and in a tightly coorinated way,
putting most of the resources available into a
small number of big centers.

Sulston, J., Ferry, G., (2003) The Common Thread. A Story of Science,
Politics, Ethics and the Human Genome. Gorgi Books, London
Public Consortium x Celera Genomics
Francis Collins
Craig Venter
Human Genome Project
 ...has been finished „many times“
 Draft (90 %)
 June 2000 (announced in White House)
 February 15, 2001 (draft sequence published)
 Finished (99,3 %)
 May 2003 (complete sequence announced)
 October 2004 (complete sequence published)
Nature,
únor 2001
V davu jsou fotografie Gregora
Mendela, Jamese Watsona a
Francise Cricka.
Science
february 2001
BIOLOGY OF THE HUMAN
GENOME
Human Genome – Internal Universe
 After many centuries of investigations we
have built up an approximate
understanding of at least the more
accesible parts of our external Universe
 ...however, there is also a largely
unexplored Universe within us
 about 1011 neurons
 and somewhere in the region of 1015
interconnections
Human Genome
 DNA sequences that code for proteins or give
rise to tRNA or rRNA compose a mere 1,5 %
of the human genome
 there are 78 000 proteins in human body
 If we include introns and regulatory
sequences associated with genes, the total
amount of DNA that is gene-related - coding
and non-coding - constitutes about 25 % of
the human genome
 put another way, only about 6 % (1,5 % out
of 25 %) of the lenght of the average gene is
represented in the final gene product
 1980: one lab 1000bp a day
 2000: one lab 1000bp per second, 24 hours
a day, seven days a week
 first human genome: 13 years and cost $ 3
billion
 James Watson´s genome: four months
(2007) for about $ 1 million
 2010: 3 humans, each $ 4 400
 2011: one day, $ 1000, cca 1000 persons
Craig Venter´s Genome
 3 millions SNPs
 14 779 changes in protein coding regions
(SNPs)
 20% never seen before
 2020 change in protein sequence
(nonsynonymous aminoacid substitutions)
 12% predicted to disrupt function of proteins
 11% in disease-causing genes
There is no "The Human Genome"
 platonic´s idea of the ideal human genome
probably does not agree with reality
 another marks should be invented for
deletions and inzertions
2010: HOMO
NEANDERTHALENSIS
Sekvenování genomu neandertálce
Sekvenování genomu neandertálce
http://news.bbc.co.uk/2/hi/science/nature/8660940.stm
 Between 1% and
4% of the
Eurasian human
genome seems to
come from
Neanderthals.
Svante Paabo (pictured here with a
Neanderthal skull) led the research effort
ETHICS
James Watson
 ” We used to think that our fate was in our
stars. Now we know, in large part, that our
fate is in our genes.“
Zdroj:http://www.cnn.com/video/#/video/us/2007/10/19/todd.saudi.schools.cnn
Zdroj:http://www.cnn.com/video/#/video/us/2007/10/19/todd.saudi.schools.cnn
A Man: a Periodic Table of Genes?
 „All matter can be reduced
to a periodic table of
elements, but at a higher
level, every living thing can
be reduced to a periodic
table of genes.“

(Strachan, T., Read, A.P., (2004) Human Molecular Genetics. 3rd ed.
Garland Publishing, New Yourk, p. 208)
 James Watson: ”We used to think
that our fate was in our stars. Now
we know, in large part, that our
fate is in our genes.“
 Walter Gilbert: „When we have the
complete sequence of the human
genome, we will know what it is to
be a human“
 E.O.Wilson:Ethics, as we
understand it, is an illusion fobbed
on us by our genes to get us to
cooperate.
Robert Weinberg
 So what are you going to do if you begin
to find on a chip of a child's DNA that this
kid is likely to be very good in language,
probably is going to have poor math skills,
will be a rather anxious and obsessive
person, will have difficulty associating with
his or her peers, and is likely to come
down with heart disease at the age of 45?
How is that going to affect your
relationship to that person, that child?
HGP
Salvador Luria:
“‘Will the Nazi program to eradicate Jewish or
otherwise ‘inferior’ genes by mass murder be
transformed into a kinder, gentler program to
‘perfect’ human individuals by ‘correcting’ their
genomes in conformity perhaps to an ideal
‘white, Judeo-Christian, economically successful’
genotype?“
Ethical Questions
 knowledge gained from the HGP may lead to
the construction of a „standard“ human
genome.
 if this occurs, one must ask what variation society
would view as permissible before an individual´s
genome was labelled substandart or abnormal?
ELSI
 "All men are created equal"
 = moral and political equality
 insurance companies: "you should pay
according the risk you bring"
 more risk - you more have to pay
 but what about genetic predispositions?
 genome is not "a bean bag"
 ... genome is rather an ecosystem
RACISM IS DEAD
Ethical Issues: Racism is dead
 1,5 milions bp – difference between mother
and her daughter
 2,25 milions bp - difference between
grandmother and granddaughter
 3 milions bp - difference between two
random chosen people on Earth
„Race“ is not a biological concept
 modern population genetics makes the
concept of „race“ in the human context
biologically meaningless, although socially
explosive
 polish jews are more similar to polish nonjews than to jews in f.e. Spain
Humans show little genetic variation
compared with other species
p
p
1.4
0,4
1.2
0,3
0.8
0,2
0.6
0.4
0,1
0.2
Human
Chimpanzee
Gorilla
Human
Fish
Fly
Orang-utan
0
0
Pea*
Genetická variabilita (%)
1
Out of Africa and multiregional
hypothesis
Chimp Genome and Human
genome
What makes us "human"?
Ethical Issues: The Chimpanzee Genome
Are there any differences between chimps and humans?
 The chimpanzee genome is 98.77% identical to the
human genome. On average, a typical human
protein-coding gene differs from its chimpanzee
ortholog by only two amino acid substitutions;
 nearly one third of human genes have exactly the
same protein translation as their chimpanzee
orthologs.
 A major difference between the two genomes is
human chromosome 2, which is the product of a
fusion between chimpanzee chromosomes 12 and
13.
 Among the 3 billion base pairs in the DNA
of both humans and chimpanzees,
researchers found differences in 40 million
sites.
 When measured by changes in their
genetic codes, humans and chimpanzees
are about 10 times more different than are
individual humans from each other.
 We cannot see in this why we are so
different from chimpanzees. Part of the
secret is hidden in there /in the genome/,
but we don´t understand it yet.
 Svante Paabo

Le Fanu, J., (2009) Why us? How Science Rediscovered the Mystery of Ourselves. Pantheon Books, New
York.
Skeleton of the
Gorilla and Homo
Roger Fenton (1819-69), 'Skeleton
of Man and of the Male Gorilla
(Troglodytes Gorilla)' About 1855
Fenton was the official photographer
at the British Museum, which then
held collections that are today in the
Natural History Museum.
Photographed four years before the
publication of Darwin’s On the Origin
of Species, the ape skeleton has been
reconstructed in a more upright form
than natural to emphasise the
similarities between humans and
apes. The gorilla’s left arm shows
evidence of a lion bite.
Auguste Rodin
Woman Centaur (Mind and Body)
CREATIONISM IS DEAD
How genetically unique are we?
 96% with chimpanzee
 80% with mouse
 50 % with Drosophila
 40% with C. elegans
 30% with S. cerevisiae
Creationism is dead
 51% sequences we share with yeasts
 57% sequences we share Brassica
oleracea
 98,6% sequences we share wit Pan
troglodytes
Creationism is
dead
Collins, F., (2006) The
Language of God. Free
Press, New York, p. 128)
Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and
Medicine:
Convention on Human Rights and Biomedicine
OVIEDO, 1997
 Chapter IV – Human genome
 Article 11 – Non-discrimination
 Any form of discrimination against a person on
grounds of his or her genetic heritage is
prohibited.
The Genetic Information Nondiscrimination Act
passed the American Senate in 2003
 Act will prevent insurers and employers
from discriminating based on genetic
information. This means that an insurance
company cannot deny you insurance or
charge you more because you have a
particular genotype, and that an employer
cannot fire you or pay you less because
you have a particular genotype.
FUTURE
 For centuries, we considered ourselves to
be healthy until symptoms of illness arose.
Once diagnosed, correctly or not, we
received standardized treatments. In
accordance with this view, the human
body was generally ignored untill
something went wrong.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 34
 We do not have a health care system; we
have a sick care system!

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 58
DNA analysis
 23andMe
 Navigenics
 deCODE
https://www.23andme.com/
http://www.navigenics.com/
http://www.decode.com/
2010: DNA analysis
 23andMe
https://www.23andme.com/
 $ 399
 spitting into special test tube
 Navigenics
http://www.navigenics.com/
 $ 2499
 spitting into special test tube
 deCODE
http://www.decode.com/
 $ 985
 scraping cells from a cheek by a swab
2013: DNA analysis
 23andMe
https://www.23andme.com/
 $ 99
 spitting into special test tube
 Navigenics
http://www.navigenics.com/
 $
 spitting into special test tube
 deCODE
http://www.decode.com/
 $
 scraping cells from a cheek by a swab
 Your DNA sequence, properly encrypted,
will soon become a permanent part of
your electronical medical record

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB.
ENCODE
 The Encyclopedia of DNA Elements
 Project to identify all the functional elements of
the genome and to determine how those work
together to turn on or off in particular tissues.
 An additional surprise emerged: for most
of the genetic variants that played a role in
risk of disease, the problem wasn´t that
the glitch led to a garbled protein; rather,
the glitch affected whether the responsible
gene was turned „off“ or „on“ at the right
time and in the right amount.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 138
 Your DNA sequence, properly encrypted,
will soon become a permanent part of
your electronical medical record

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB.
 For centuries, we considered ourselves to
be healthy until symptoms of illness arose.
Once diagnosed, correctly or not, we
received standardized treatments. In
accordance with this view, the human
body was generally ignored untill
something went wrong.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 34
USA
 On May 14, 2008, President Bush signed
the legislation /against genetic
discrimination in health insurance and in
the workplace/.
2013
lincRNA
http://www.youtube.com/watch?v=8e9-APttutU
 Eric Lander
 cca 100% of the genome transcribed into RNA (non-
coding)
 ...but most in extremly low level, poorly conserved
 is it biologically functional or biological noise?
 only cca 15 functional long ncRNAs known
 XIST, AIR, HOTAIR, H19, TUGI, JPX, KCNQ, PINC, NEAT1,
lincP21
 there are thousands lincRNA in mammals
 lincRNAs
 scaffold regulatory proteins to control cell state
 can exploit and alter chromosome architecture
lincRNA
http://www.youtube.com/watch?v=8e9-APttutU
 are not so conserved like protein-coding
genes
 but are more conserved than background
lincRNAs
http://www.youtube.com/watch?v=8e9-APttutU
 make flexible scaffold regulating cell
states
 can exploit and alter chromosome
architecture
Biology 2.0
Post-Genomic Biology
FUTURE
 the way genes are switched on and off is
at least as important, both biologically and
medically, as the composition of those
genes.
 The idea that the recipe book would be
easy to understand is kind of hubris.
View from 2001
 Protein-coding
genes:
 35 000 – 120 000
 Regulatory
Sequences:
 less than proteincoding information
(promoter + a few enhancers)
 Non-coding RNAs
 just a few classical
types (rRNA, tRNA,
snoRNA + XIST, telomerase,
7SL, H19)
 Transposons
 Parasites, junk
View from 2013
 Protein-coding
genes:
 21 000
 Regulatory
Sequences:
 much MORE than
protein-coding
information (5:1 ratio)
 Non-coding RNAs
 around 7 000
 Transposons
 symbionts (accelerate
evolution)
 evolutionary conserved sequences 6%
protein-coding genes 1,2 %
 most conserved sequences are in the gene-
poor regions!
 most evolutionary inovation concerns non-
coding sequences
 highly conserved elements control early
development
The Road Ahead
 Complete catalogs across the wide range
of cell types and conditions of
 all transcripts
 all long-range genomic modifications
 all epigenetic modifications
 all interactions among proteins, DNA and RNA
“Whenever man takes a new step towards subduing nature
through the art of organisation and technology, he should
previously have taken two steps within himself in order to
deepen his ethical thinking”
(Friedrich von Hardenberg, 18th. century)
GEN-ETHICS
2013
Marek Vácha
John Sulstone against genetic
discrimination
 "A hundred years ago, there was no
equitable treatment for women; they didn't
even have the vote. There was no
equitable treatment for people of different
races. We've established both of those,
and now we need to do it across the board
for all genetics.„

http://www.guardian.co.uk/science/2004/may/15/genetics.academicexperts
GENES
H.G.Brunner
 only males
 50 % of males
 X chromosome
Abdelmalek Bayout
 Abdelmalek Bayout, an Algerian citizen who has lived in Italy
since 1993, admitted in 2007 to stabbing and killing Walter
Felipe Novoa Perez on 10 March. Perez, a Colombian living
in Italy, had, according to Bayout's testimony, insulted him
over the kohl eye make-up the Algerian was wearing.
Bayout, a Muslim, claims he wore the make-up for religious
reasons.
 During the trial, Bayout's lawyer, Tania Cattarossi, asked the
court to take into account that her client may have been
mentally ill at the time of the murder. After considering three
psychiatric reports, the judge, Paolo Alessio Vernì, partially
agreed that Bayout's psychiatric illness was a mitigating
factor and sentenced him to 9 years and 2 months in prison
— around three years less than Bayout would have received
had he been deemed to be of sound mind.
Genes „For“ Criminal Behaviour
 Crime = an act or the comission of activity
that is forbidden
 Criminal behaviour
 can be a one-time phenomenon
 can be a profession




shoplifting x pickpocketing
leaving lethal nerve gas on a subway station
shooting a doctor working in an abortion clinic
„white collar crime“
 = there is not such thing as „a crime“
GENES
...AND RESPONSIBILITY
GENES INFLUENCE
BEHAVIOUS
Artificial selection
ENVIRONMENT
Environment
behaviorism:
 give me a dozen healthy infants, well-formed,
and my own specified world to bring them up
in and I´ll guarantee to take anyone at random
and train him to become any type of specialist
I might select – doctor, lawyer, artist,
merchant-chief and, yes, even beggar-man
and thief, regardless of his talents, penchants,
tendencies, abilities,vocations, and race of his
ancestors.
Behaviorism
A man is nothing but a piece of plasticine...
FREEDOM
Animisms
There is no difference
between
1. person and thing
2. living and non-living
3. spiritual and material
World of children and world of science
Being is being alive
Science
Animism
René Descartes
Panmechanismus
Francis Crick:
The Scientific Search
for the Soul
Francis Crick : the soul was not
discovered...
1470
1994
Replicators and Vehicles
 Now (the replicators) they swarm in huge
colonies, safe inside gigantic lumbering
robots, sealed off from the outside world,
communicating with it by tortuous indirect
routes, manipulating it by remote control.
They are in you and me; they created us,
body and mind; and their preservation is the
ultimate rational for our existence. They have
come a long way, those replicators. Now they
go by the name of genes, and we are their
survival machines.
 (Richard Dawkins: The Selfish Gene)
 The genetic engineering is nothing that
„revolution of robots“!
GENETIC DISORDERS
Unique characteristics of genetic
disorders
 Genetic disordres strike families, not only
individuals. Knowledge about genetic
disease in one family member may have
important implications for the health
prospects of other family members; the
„patient“ may be an entire family rather that
just single person
 in order to counsel one member of a family it
may be necessary to have detailed
information about several other family
members
Unique characteristics of genetic
disorders
 Inherited disorders may affect more than one
generation. Thus, genetic disease may have
serious consequences for people in generations
yet unborn
 there is a strong need for long term storage
(over many generations) of information about
genetic disease and for the data protection
 genetic diseases also differ from non-genetic
diseases in the sense that it is to an increasing
degree becoming possible to predict disease risk
in people who today are healthy and even
people who are not yet born
Genetic counseling
 nondirectiveness;
 informed consent;
 confidentiality
DIRECT-TO-CONSUMER
DTC
Direct To Consumer
 individuals obtain direct analysis of their
genome for prediction of future medical
risks, without the involvement of a health
provider.
Direct To Consumer
 it is a natural next step, in the same way
that pregnancy tests had left the confines
of the physician´s office and found their
way onto the pharmacy shelves
 (see the lecture Human Genome Project)
 23andMe
 Navigenics
 deCODE
https://www.23andme.com/
http://www.navigenics.com/
http://www.decode.com/
Direct marketing of genetic tests to the public
(DTC)
 A development with important ethical
implications is the marketing of genetic tests
directly to the public. Such tests are designed
to detect differences in DNA, genes or
chromosomes that are not provided as part
of a medical consultation.
 Direct marketing might be seen as a positive
step, as individuals take increasing
responsibility for their own health and, armed
with information about their susceptibility to
particular disease conditions, makes lifestyle
changes to promote their health
Direct marketing of genetic tests to the
public
 ...but there are at least two potential harms:
 the impact on individuals of misinterpreted or
erroneous predictive health information that
overstates the role of genetics in causing common
diseases, and which might result in delays in
proper medical advice being sought, or in
expensive and unproven dietary or lifestyle
changes
 the possibility of people performing inappropriate
genetic tests on children or other adults without
proper consent
Direct marketing of genetic tests to the
public
 for complex disorders such as high blood
pressure, genetic factors may only
account for a few percent of the risk,
whereas changing habits in relation to
diet, exercise, smoking and
antihypertensive drug treatment could
reduce the risk of a heart attack by up to
80 %.
Questions and problems with DTC
 the risk factors detectable by DTC tests are
modest in their quantitative contribution to
disease
 for most conditions an individual´s risk will bechanged
only slightly by the result of the test
 the testing does not incorporate an assessment
of family history
 DTC tests do not detect the less common but
highly significant genetic mutations that carry a
high risk for disease
 BRCA1/2, Huntington´s disease, fragile X syndrome
Questions and problems with DTC
 a substantial fraction of the heritability for
most common disease has not been
discovered yet.
 the possibility of laboratory mistakes
 the company´s interpretation of the DNA
test results is not entirely trivial
 most of the current data about risk
prediction from DNA testing are based
upon studies done on individuals of
northern European background
Questions and problems with DTC
 consumers who are provided risk
information should be skeptical of claims
about interventions
 is it really necessary to pay hundreds of
dollars for a DNA test to be told that you
should eat a balanced diet, engage in regular
exercise, and maintain a normal weight?
 infomations may cause anxiety, and may
require to beconsulted with experts
AUTOSOMAL DOMINANT
INHERINTANCE
Huntington´s
disease
autosomal
dominant
inheritance
Huntington´s Disease
ethical issues
Informational self
– determination
•right to know
•right to not know
Convention on Human Rights and
Biomedicine (Oviedo Convention)
1997
Article 12 – Predictive genetic tests
 Tests which are predictive of genetic
diseases or which serve either to identify
the subject as a carrier of a gene
responsible for a disease or to detect a
genetic predisposition or susceptibility to a
disease may be performed only for health
purposes or for scientific research linked
to health purposes, and subject to
appropriate genetic counselling.
AUTOSOMAL RECESSIVE
INHERINTANCE
Sickle cell disease
 Allison found that different African tribes
had very different frequencies of the HbS
allele.
 In some tribes, as many as 40 % of the
population was heterozygous faor the HbA
allele, while in others almost no one
carried HbS
 It was found, that the HbS allele has
evolved at least five separate times!

(Gilbert, S.F., Epel, D., (2009) Ecological Developmental Biology. Sinauer Associates, Inc. Sunderland,
MA. p. 314-315)
Sickle cell disease
 The disease results
from an altered
hemoglobin, in
which the
aminoacid valin
substitutes for
glutamic acid at
position 6 in the βglobin chain.
Innocence Project
STRs
 short tandem repeats
 = tandemly repeated units of 2 - 5 base
sequences in specific regions of tahe
genome.
 The number of repeats present in these
regions is highly variable from person to
person (polymorphic) and for one
individual, the two alleles of an STR may
even differ from each other
Innocence Project
 nonprofit organization dedicataed ato
overaturning wrongful convications, uses
STR analysis of archived samples from
crime scenes ato revisit old cases.
 As of 2010, more than 250 innocent
people had been released from prison as
a result of forensic and legal work by this
group
Innocence Project
 In 1984, Earl Washington was convicted
and sentenced to death for the 1982 rape
and murder of Rebecca Williams.
 His sentence was commuted to life in
prison in 1993 due to new doubts about
he evidence.
 In 2000, STR analysis by forensic
scientists associated with The Innocence
Project showed conclusively that he was
innocent
Engineering the engineer as well as the engine, we
race our train we know not where.
Leon Kass
2013
Marek Vácha
GENE THERAPY
Gene therapy
 Pills
 Cell therapies
 The gene itself becomes the drug
Gene therapy
 somatic cells
 concerns one single individual
 germ cells
 concerns plenty of individuals
CURRENT GOVERNMENT
POSITIONS
Oviedo 1997:
CONVENTION ON HUMAN RIGHTS AND BIOMEDICINE
 Article 13 – Interventions on the
human genome
 An intervention seeking to modify the
human genome may only be undertaken
for preventive, diagnostic or therapeutic
purposes and only if its aim is not to
introduce any modification in the genome
of any descendants.
Some Comments.
Ethics
 there is no fundamental difference
between the transplantation of genes into
somatic cells and the transplantations of
organs
Gene therapy
 Most human disease results from
interaction of a born genetic factors with
environmental influences.
 Therapy only modifies the symptoms of
disease, thereby giving the body an
opportunity to heal itself
 gene therapy: effective treatment should
correct the underlying genetic defect itself
and not just a symptoms
Gene Therapy
 is it true that…
 the natural is good and the unnatural is
bad?
...not particularly important for obtaining the credits, but interesting
enough
GENETIC ENGINEERING
Engineering:
man
nature (metal)
Biological engineering:
man
man
History
Gene therapy
 The first approved gene-therapy protocol
began on September 14, 1990, in NIH,
Maryland
CASES
Angelina Jolie underwent a
preventive double
mastectomy
http://www.nytimes.com/2013/05/14/opinion/my-medicalchoice.html?hp

MY MOTHER fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren
and to hold them in her arms. But my other children will never have the chance to know her and experience how loving and
gracious she was.

¶We often speak of “Mommy’s mommy,” and I find myself trying to explain the illness that took her away from us. They have
asked if the same could happen to me. I have always told them not to worry, but the truth is I carry a “faulty” gene, BRCA1,
which sharply increases my risk of developing breast cancer and ovarian cancer.

¶My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is
different in the case of each woman.

¶Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk
of getting it, on average.

¶Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could. I made a decision to
have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian
cancer, and the surgery is more complex.

¶On April 27, I finished the three months of medical procedures that the mastectomies involved. During that time I have been
able to keep this private and to carry on with my work.

¶But I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that
strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood
test whether you are highly susceptible to breast and ovarian cancer, and then take action.

¶My own process began on Feb. 2 with a procedure known as a “nipple delay,” which rules out disease in the breast ducts
behind the nipple and draws extra blood flow to the area. This causes some pain and a lot of bruising, but it increases the
chance of saving the nipple.

¶Two weeks later I had the major surgery, where the breast tissue is removed and temporary fillers are put in place. The
operation can take eight hours. You wake up with drain tubes and expanders in your breasts. It does feel like a scene out of a
science-fiction film. But days after surgery you can be back to a normal life.

¶Nine weeks later, the final surgery is completed with the reconstruction of the breasts with an implant. There have been many
advances in this procedure in the last few years, and the results can be beautiful.
http://www.nytimes.com/2013/05/14/opinion/my-medicalchoice.html?hp

¶I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am very happy
that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children
that they don’t need to fear they will lose me to breast cancer.

¶It is reassuring that they see nothing that makes them uncomfortable. They can see my small scars and that’s it. Everything
else is just Mommy, the same as she always was. And they know that I love them and will do anything to be with them as long
as I can. On a personal note, I do not feel any less of a woman. I feel empowered that I made a strong choice that in no way
diminishes my femininity.

¶I am fortunate to have a partner, Brad Pitt, who is so loving and supportive. So to anyone who has a wife or girlfriend going
through this, know that you are a very important part of the transition. Brad was at the Pink Lotus Breast Center, where I was
treated, for every minute of the surgeries. We managed to find moments to laugh together. We knew this was the right thing to
do for our family and that it would bring us closer. And it has.

¶For any woman reading this, I hope it helps you to know you have options. I want to encourage every woman, especially if you
have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this
aspect of your life, and to make your own informed choices.

¶I acknowledge that there are many wonderful holistic doctors working on alternatives to surgery. My own regimen will be
posted in due course on the Web site of the Pink Lotus Breast Center. I hope that this will be helpful to other women.

¶Breast cancer alone kills some 458,000 people each year, according to the World Health Organization, mainly in low- and
middle-income countries. It has got to be a priority to ensure that more women can access gene testing and lifesaving
preventive treatment, whatever their means and background, wherever they live. The cost of testing for BRCA1 and BRCA2, at
more than $3,000 in the United States, remains an obstacle for many women.

¶I choose not to keep my story private because there are many women who do not know that they might be living under the
shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will
know that they have strong options.

¶Life comes with many challenges. The ones that should not scare us are the ones we can take on and take control of.

¶Angelina Jolie is an actress and director.
„The Bubble Boy“
 David Phillip Vetter
(September 21, 1971 –
February 22, 1984)
 he suffered SCID
 at the age of 12, he died
after hematopoietic stem
cell transplantation
„The Bubble Boy“
What was wrong?
pros
cons
 effort to save the life
 career of the researchers
 doing everything is
 publications
possible
 popularity for the
researches
 giving too much hope to
the parents
Celý životopis JG sepsaný jeho otcem Paulem Gelsingerem je na
http://www.jesse-gelsinger.com/
Jesse Gelsinger
 Treatment for JG: low-
protein diet and cca 32
pills per day
 the day he turned
eighteen he left to
Pennsylvania and gave
the informed consent
with the gene therapy
Jesse Gelsinger
 he was pronounced dead on September 17, 1999
 His death was the first reported death ever directly
attributable to a gene therapy experiment
 There were questions about the quality of informed
consent at University of Pennsylvania and
accusations that the university had failed to report
toxic side effects earlier that could have shut down
the study.
ETHICS
Gene Therapy
Arguments for
Gene Therapy
Arguments FOR
 Isolating a disease-inducing aberrant
gene looks fairly continuous with isolating
a disease-inducing intracellular virus
 Suppllying diabetics with normal genes for
producing insulin has the same medical
goal as supplying them with insulin for
injection
Gene Therapy of Germ Cells
Arguments FOR
 it solves the problem once and for all. Why
leave the patient´s descendants at risk of
a disease if you could equally well
eliminate the risk?
Gene Therapy
Arguments against
Germ cells gene therapy
objections
 present men have the power over the
future men, who are the defenseless
objects of antecedent choices by the
planners of today
 there is no right to existence for
hypothetical individuals not yet conceived
 but though not the right of merely
imagined offspring, the right to offspring of
the hindered progenitor is involved.
Germ cells gene therapy
objections
 it could lead to people being viewed as
products capable of being manufactured,
with the result that people could be „made
to measure“.
 our actions might come to be viewed as
genetically determined rather than a
matter of free will
Germ-line Therapy
Objections
 it is not safe
 when altered genes are inserted into the genome,
they may disrupt presently functional genes
 this has certainly been encountered in laboratory
mice. In one case, the disruption of single gene
resulted in mice who were born without eyes,
semicircular ear canals, or a sense of smell
 some effects may take several generations to
manifeste themselves - and any mistakes made
will be permanent

(Gilbert, S.C., Tyler, A.L., Zackin, E.J., (2005) Bioethics and the New Embryology. Sinauer Associates, Inc.
W.H. Freeman & comp. Sunderland, MA U.S.A. p. 202)
Enhancement
Nontherapeutical gene
modifications
Genetic Enhancement
 Beacause memory is good, can we say
how much more memory would be better?
 If sexual desire is good, how much more
will be better?
 Life is good, but how much extension of
the lifespan would be good for us?
 Only simplistic thinkers believe they can
easily answer such question

Kass, R.L., (2002) Life, Liberty and the Defense of Dignity. Encounter Books, New York, London.
p. 132
Nontherapeutic genetic modification
ethical issues
 Issue of eugenic - are we allowed to
make hereditary „improvements“?
 Slippery slope - might we slide into a new
age of eugenic thinking by starting with
small genetic improvements?
Nontherapeutic genetic modification
ethical issues
 since more and more scientists believe
that all traits of personality have at least a
partial biological basis, how will we
distinguish the biological "defect" that
yields "disease" from the biological
condition that yields shyness or
melancholy or irascibility?
Runners
Nontherapeutic genetic modification
ethical issues
 researches have produced smart mice by
inserting extra copies of a memory-related
gene into mouse embryo. The altered mice
learn more quickly and remeber things longer
than normal mice.
 The extra copies were programmed to
remain active even in old age, and the
improvement was passed on to offspring.
 .. we are now looking for "a Viagra for the
brain"
Gen-ethics and Synt-ethics
2014
Marek Vácha
Green generation
 Taiwan: DNA from jellyfish
was added to about 265
pig embryos which were
implanted in eight different
sows.
 Four of the female pigs
became pregnant and
three male piglets were
born
 The pigs are transgenic,
created by adding genetic
material from jellyfish into
a normal pig embryo.
Green generation
 They are the only
ones that are green
from the inside out.
Even their heart and
internal organs are
green
 It remains to be seen,
whether from the
ethical point of view…
….everything is ok?
ANDi
ANDi
 a transgenic rhesus monkey has been born that
carries the gene for green fluorescent protein
(GFP) in each cell of his body
 the gene for GFP was inserted into a viral vector
that was injected into the space between the
oocyte and the zona pellucida in a rhesus
monkey egg.
 The vector inserted the GFP gene into the egg
DNA, and the resulting offspring, a monkey
called ANDi (=inserted DNA) has GFP genes in
all of his cells

(Gilbert, S.C., Tyler, A.L., Zackin, E.J., (2005) Bioethics and the New Embryology. Sinauer Associates, Inc. W.H.
Freeman & comp. Sunderland, MA U.S.A. p. 196)
Frankenfish
Frankenfish
 The GM Atlantic salmon grows twice as
fast as its wild cousin.
 Its genes have been artificially augmented
with DNA taken from two other fish –
 the Pacific Chinook salmon and
 an eel-like species called an ocean pout
(Zoarces americanus) – in order to boost the
growth hormone that allows it continually to
put on weight throughout the year.

http://www.independent.co.uk/news/science/a-giant-leap-into-the-unknown-gm-salmon-that-grows-andgrows-2085856.html
The Enviropig
A genetically engineered pig recently approved for limited
production in Canada makes urine and feces that contain up to 65
percent less phosphorous, officials have announced.
Fluorescent mice
GloFish
In 2007, South Korean scientists altered a cat’s DNA to make it glow in the dark
and then took that DNA and cloned other cats from it — creating a set of
fluffy, fluorescent felines. Here’s how they did it: The researchers took skin cells
from Turkish Angora female cats and used a virus to insert genetic instructions
for making red fluorescent protein. Then they put the gene-altered nuclei into the
eggs for cloning, and the cloned embryos were implanted back into the donor
cats — making the cats the surrogate mothers for their own clones.
Scientists at the University of Washington are engineering poplar trees that can
clean up contamination sites by absorbing groundwater pollutants through their
roots. The plants then break the pollutants down into harmless byproducts that are
incorporated into their roots, stems and leaves or released into the air.
In laboratory tests, the transgenic plants are able to remove as much as 91
percent of trichloroethylene — the most common groundwater contaminant at U.S.
Superfund sites — out of a liquid solution. Regular poplar plants removed just 3
percent of the contaminant.
SYNT-ETHICS
 On May 21, 2010, Science reported that
the Venter group had successfully
synthesized the genome of the
bacterium Mycoplasma mycoides from a
computer record, and transplanted the
synthesized genome into the existing cell
of a´Mycoplasma capricolum bacterium
that had had its DNA removed. The
"synthetic" bacterium was viable,
i.e.capable of replicating billions of times.
Artificial life
 Mycoplasma mycoides
 1,08 Mb
 „synthetic cell“ – only its genome is truly
synthetic
Synthia
 Craig Venter: "the first species.... to have
its parents be a computer"
 James Joyce: "To live to err, to fall, to triumph,
to recreate life out of life"
 Robert Oppenheimer: "See things not as they
are, but as they might be".
 Richard Feynman: "What I cannot build,
I cannotunderstand"
Artificial life
critics
 the potential benefits of synthetic
organisms have been overstated.
 By releasing these „synthetic organisms“
into areas of pollution, we may actually
releasing a new kind of pollution.
 We don't know how these organisms will
behave in the environment.
Artificial life
 in the near future we may switch from
„reading“ the genomes to „writing“ them
 the time of „digitizing biology“ is about to
come
 the software builds its own hardware
Biomedical Research
 Bioterrorism
 Bioerrorism
 "superweed" etc.
Bioerrorism
 strains of microorganisms to be used in
recombinant DNA experiments are
genetically crippled to ensure that they
cannots survive outside the laboratory.
Biomedical research
 Precautionary Principle
 When in doubt, pause (mostly Europe)
 Proactionary Principle
 When in doubt, go ahead

(Thomas Murray, http://www.youtube.com/watch?v=1y4jt7oDrZI)
Biomedical research
 Precautionary
Principle
 When in doubt, pause
(mostly Europe)
 Proactionary
Principle
 When in doubt, go
ahead

(Thomas Murray,
http://www.youtube.com/watch?v=1y4jt7oDrZI)
 The Presidential Comission for the Study
of Bioethical Isues:
 New Directions: The Ethics of Synthetic
Biology and Emerging Technologies
(16/12/2010)
 "prudent vigilance"
 "the field of synthetic biology does not require
new regulations"
New Directions: The Ethics of Synthetic Biology and Emerging
Technologies
8 FEB 2012
 public beneficence
 responsible stewardship
 intellectual freedom
 democratic deliberation
 justice and fairness
2014
Marek Vácha
EUTHANASIA
Euthanasia
„Dutch definition of euthanasia“
 =the intentional termination of the life of a
patient at his request by someone other
than the patient
Euthanasia
 active
 active deen on active request
 nonvoluntary euthanasia
 pacient is not capable of articulating her wishes
 involuntary euthanasia
 which ignores the individual´s autonomous rights and could
potentially bring about the death of unwilling victim, is not
easily distinguished from murder. (Edge, R.S., Groves, J.R. (2006) Ethics of Health Care. A
Guide for Clinical Practice 3rd. ed.Thomson Delma learning, NY. p. 235)
 passive
 „doing nothing“
 passive voluntary
 doing nothing with the intention of the death of the patient
(sometimes it is hard to distinguishes it from active
euthanasia)
Assistence in Suicide
 Assistance in suicide means knowingly
and intentionally providing a person with
the knowledge or means or both required
to commit suicide, including counseling
about lethal doses of drugs, prescribing
such lethal doses or supplying the drugs
Letting die
 = enabling nature to take its course
 but there is a difference between:
 withdrawing machines and medications from
the patient
 withholding or withdrawing artificial nutrition
and hydration
Reasons for opening the discussion
Formerly
active life
Now
active life
diaseases
and dying
death
disease and dying
death
Because of medicine we have today a little bit longer the active life, but
proportionally much longer the time of diseases, staying in the hospitals
and dying
Medische macht en medische ethiek
 Hippocratic oath
 the physician must preserve human life, save it
and prolong it, where and whenever possible
 today, with all the medical possibilities:
 the physician must preserve human life, save it
and prolong it, wherever it is sensible and
meaningful to do so.
 should the physician consider it no longer sensible
to proceed, then he should be permitted to end
patient´s life. This can be done in two ways:
 through ceasing all life-sustaining measures
 through actively terminating the life of the patient

Sohn, W., Zenz, M., (eds) (2001) Euthanasia in Europe. Schattauer. Stuttgart, New York. p.138
Postma Case
 Leeuwarden 1973
 Dr. Postma was sentenced to only one
week in prison
 this remarkably mild sentence was based on
the fact, that




the physician´s mother was incurably ill
she experienced her suffering as unbearable
she was already in dying phase
the ending of life was done on her own
expressed wish
Rotterdam criteria: 1982
 the patient makes a voluntary request
 the request must be well considered
 the wish for death is durable
 the patient is in unacceptable suffering
 the physician has consulted a colleague
who agrees the proposed course of action
…without specific request…
 there is a difference between questions
 what would the patient want in this circumstances?
 what do you want for the patient?
…without specific request…
 in 1990, besides the 2 300 cases of
voluntary euthanasia and 400 cases of
physician-assisted suicide per year, there
were over 1 000 cases of active
nonvoluntary euthanasia performed
without the patient´s knowledge or
consent, including roughly 140 cases (14
percent) in which the patients were
mentally totally competent.

(Kass, R.L., (2002) Life, Liberty and the Defense of Dignity. Encounter Books. New York, London. p. 201)

Maas van der, P.J. et al., Euthanasia and Other Medical Decisions Concerning the End of Life (New York: Elseveir
Science Inc., 1992)
euthanasia
ARGUMENTS FOR AND
AGAINST
Arguments For Euthanasia
 fear of living too long, without fatal illness
to carry one off; hence, a right to assisted
suicide
 fear of the degradations of senility and
dependence; hence, a right to death with
dignity
 fear of loss of control; hence, a right to
choose the time and manner of one´s
death
Arguments For Euthanasia
 It provides a way to relieve extreme pain
 It provides a way of relief when a person's
quality of life is low
 Frees up medical funds to help other
people
 It is another case of freedom of choice
Arguments For Euthanasia
 There are two general arguments used in
favour of legalised euthanasia and
assisted suicide.
 One is the ending of unbearable physical
and/or psychological suffering in the case of
terminal illness, and the other is
 to enhance individual autonomy.
Arguments for euthanasia
 Refused by a court
in Dijon the right to
die under medical
supervision, she
was found dead at
home.
 According to
prosecutors, she
had taken a
"deadly dose" of
barbiturates.
Chantal Sebire
died March 19, 2008
Arguments Against Euthanasia:
 Euthanasia devalues human life
 Euthanasia can become a means of health
care cost containment
 Physicians and other medical care people
should not be involved in directly causing
death
 There is a "slippery slope" effect that has
occurred where euthanasia has been first
been legalized for only the terminally ill and
later laws are changed to allow it for other
people or to be done non-voluntarily.
Arguments Against Euthanasia:
 Immanuel Kant
 Kant offered the "formula of the end in itself" as: "Act in
such a way that you treat humanity, whether in your own
person or in the person of another, always at the same
time as an end and never simply as a means."
 This places more emphasis on the unique value of human
life as deserving of our ultimate moral respect and thus
proposes a more personal view of morality. In application
to particular cases, of course, it yields the same results:
violating a perfect duty by making a false promise (or
killing myself) would be to treat another person (or myself)
merely as a means for getting money (or avoiding pain)
Arguments against euthanasia
 Emotional and psychological pressures could become
overpowering for depressed or dependent people.
 If the choice of euthanasia is considered as good as a
decision to receive care, many people will feel guilty for
not choosing death.
 Financial considerations, added to the concern about
"being a burden," could serve as powerful forces that
would lead a person to "choose" euthanasia or assisted
suicide.
Dysthanasia
 USA: about half of all patients spent their last
days in what the researches termed „an
undesirable state“, including
 a week or so in an intensive care unit
 having a physician who was unaware of wishes
not to be resuscitated
 being in serious, insufficiently treated pain
 the enthusiasm for physician-assisted suicide
is driven, in part, by the fear that we will
receive overly aggressive care at the end of
life and that our suffering may be prolonged
Euthanasia
 THE WORLD MEDICAL ASSOCIATION
RESOLUTION ON EUTHANASIA
 Adopted by the WMA General Assembly,
Washington 2002 May 2001 20.3/2001
Euthanasia
„Euthanasia, that is the act of deliberately
ending the life of a patient, even at the
patient's own request or at the request of
close relatives, is unethical. This does not
prevent the physician from respecting the
desire of a patient to allow the natural
process of death to follow its course in the
terminal phase of sickness."
Euthanasia
WMA , 1994:
„Physicians-assisted suicide, like euthanasia, is
unethical and must be condemned by the
medical profession. Where the assistance of the
physician is intentionally and deliberately
directed at enabling an individual to end his or
her own life, the physician acts unethically.
However the right to decline medical treatment
is a basic right of the patient and the physician
does not act unethically even if respecting such
a wish results in the death of the patient."
Euthanasia
BE IT RESOLVED that:
1. The World Medical Association
reaffirms its strong belief that euthanasia
is in conflict with basic ethical principles
of medical practice, and
Euthanasia
The World Medical Association strongly
encourages all National Medical
Associations and physicians to refrain
from participating in euthanasia, even
if national law allows it or
decriminalizes it under certain
conditions.
 Physicians should not abandon dying
patients but should continue to provide
compassionate care even when cure is no
longer possible
Hippocratic Oath
 I will not give a lethal drug to anyone if I
am asked, nor will I advise such a plan;
Protecting human rights and dignity by taking into account
previously expressed wishes of patients
25 January 2012
 5. This resolution is not intended to deal
with the issues of euthanasia or assisted
suicide. Euthanasia, in the sense of the
intentional killing by act or omission of a
dependent human being for his or her
alleged benefit, must always be
prohibited. This resolution thus limits itself
to the question of advance directives,
living wills and continuing powers of
attorney.

http://www.assembly.coe.int/Mainf.asp?link=/Documents/AdoptedText/ta12/ERES1859.htm
2014
Marek Vácha
ADVANCE DIRECTIVES
PREVIOUSLY EXPRESSED WISHES OF PATIENTS
Four Principles of Medical Ethics




Nonmaleficence
Beneficence
Autonomy
Justice
Autonomy
 Patient has the right, as a competent adult, to refuse
any proposed treatment, even if doing so may mean
that he/she will become sicker or even die.
 If a competent person is sick, our legal tradition
recognizes that he must want to be made well; the
state cannot force him to have an operation or take
his medication.
Advance Care Planning
 = process whereby a patient, in
consultation with healthcare providers,
family members, and important others,
makes decisions about his or her future
healthcare
 „Every human being of adult years and
sound mind has the right to determine
what shall be done with his own body.“
(Benjamin Cardozzo´s statement, 1914)
USA
 state laws allow individuals to complete
advance directives documents and to
name healthcare decision makers
 federal law requires all patients admitted
to hospital to be notified of this right
 most european countries have followed
suit with provisions for advance care
planning
LIWING WILL
Living Will
PROBLEMS
Substituted judgement and best interests
 Substituted judgements
 liwing will, advanced directives
 without an advance directive, a proxy may then refer to
the patient´s values, both implicit and explicit,
regarding worldview (including religious beliefs),
lifestyle, and health care.
 Best interests
 in many cases, a proxy may not have any information a
bout a paataient´s values (infant, young children,
mentally disabled adults)
 health is preferable to ilness, and life is preferable to
death
Order of Priority
1. current express preferences of a
competent patient (informed consent)
2. past express preferences (living will)
3. what the patient would now want if
he/she were competent (substituted
judgment)
4. best interest
Davis, J.K., (2009) Precedent Autonomy and End-of-Life Care. in Steinbock, B., (ed) The Oxford Handbook of
Bioethics. Oxford University Press, Oxford.
FOURTH YEAR
2013
Marek Vácha
Deník Metro, 20/11/2012
Metro Journal: „Big Discovery. The
Scientists can destroy a HIV bacteria.“
AIDS
BIOLOGY AND ETHICS
The Case of the Infected Spouse
 The following fictionalized case is based on an
actual incident.
 1982: After moving to Honolulu, Wilma and Andrew
Long visit your office and ask you to be their family
physician. They have been your patients ever
since.
 1988: Six years later the two decide to separate.
Wilma leaves for the Mainland, occasionally
sending you a postcard. Though you do not see her
professionally, you still think of yourself as her
doctor
The Case of the Infected Spouse
 1990: Andrew comes in and says that he has
embarked upon a more sophisticated social life. He
has been hearing about some new sexually
transmitted deseases and wants to be tested.
Testing reveals that he is positive for the AIDS
virus, and he receives appropriate counseling.
 1991: Visiting your office for a checkup, Andrew
tells you Wilma is returning to Hawaii for
reconciliation with him. She arrives that afternoon
and will be staying at the Moana Hotel. Despite
your best efforts to persuade him, Andrew leaves
without giving you assurance that he will tell Wilma
about his infection or protect her against becoming
The Case of the Infected Spouse
 Do you take steps to see that Wilma is
warned?

Kipnis, K., A Defense of Unqualified Medical Confidentiality. The American Journal of Bioethics 6, no. 2 (2006): 7 - 18
Solution
Counseling the patient to notify his partners voluntarily.
If the patient is unwilling to notify their partners the nest step
is to notify the Department of Health to start theproocess of
contact tracing.
3. The health department interviews the patient and attempts
to construct a list of partners in order to notify them
1.
2.
1.
this is a voluntary process and there is neither a penalty nor
criminal threat of prosecution if the patient chooses not to comply.
The health department then sends notice to the partner that
there is a health-related issue to discuss and the partner is
notified in person of their potential exposure to HIV.
4.
1.
The name of the source patient is never revealed to the partner
and the confidentality of the original partner is maintained.
Solution
 If the patient is unwilling to dislclose the maens of
his contacts you cannot compel him to do so.
 There is no incarceration or criminal penalty for not
disclosing these names.
 If a patient will not notify his partners and you
have certain knowledge of the partner at risk, you
have legal immunity to carry out the notification
yourself.
 There is a legal protection if you do notify the partner,
but it is not mandatory for you to do so.
 No one has ever been successfully prosecuted for
violating a patient´s confidentiality if it is to warn
another person who is at risk.
Case
 You have a patient in your clinic who is accompanied






by her boyfriend
She is clearly having unprotected sex because she is
pregnant.
When you ask if her boyfriend knows her HIV status
she says, „Of course not – he might leave me if I told
him.“
You strongly encourage her to tell him her HIV status
On a subsequent visit, when you ask her if she has
notified her partner she says „Not yet.“
You know the boyfriend because he accompanies her
to the office visits.
What should you do?
Solution
 You have legal immunity if you notify the partner.
 At this point either you can ask the health department
to notify the partner or you may do it yourself
 if the partner were to seroconvert for HIV and you did
not make sure he was notified you would be legally
liable because you did not follow your duty to warn.
 this is similar to having a psychiatric patient who told
you he was going to harm someone.
 Although you have a duty to maintain the
confidentiality of the patient, you also have a
duty to inform the person at risk.
HIV AND AIDS IN NUMBERS
The number of people living with HIV rose from around 8 million in 1990 to 34 million by the
end of 2010. The overall growth of the epidemic has stabilised in recent years. The annual
number of new HIV infections has steadily declined and due to the significant increase in
people receiving antiretroviral therapy, the number of AIDS-related deaths has also declined.
Since the beginning of the epidemic, nearly 30 million people have died from AIDS-related
causes
http://www.avert.org/worldstats.htm
 The number of AIDS-related deaths
declined by nearly one-third in subSaharan Africa between 2005 and 2011.
 The Caribbean experienced declines in AIDS-
related deaths of 48% between 2005 and 2011
and Oceania 41%.
 However two regions experienced significant
increases in AIDS-related deaths; Eastern
Europe and Central Asia (21%) and the Middle
East and North Africa (17%).
Cost of AIDS
 when one considers personal medical
costs, direct costs of research, and
indirect costs such as education,
screening, and potential productivity
losses,
 the disease carries a yearly price tag of
over $ 8 billion
2012
 the population affected by the disease has
extended to all groups
 from „high-risk groups“ to „high-risk
behaviours“
BIOLOGY OF HIV
AIDS
 1981: On June 5,
the Centers for
Disese Control
(CDC) Mortality
and Morbidity
Report listed an
unusual outbreak
of opportunistic
infections such
as Pneumocystis
carinii
pneumonia
among gay men
 "gay cancer"
T-lymocyte infected by HIV (blue)
History
 GRID - gay-related immune disorder
 july 1981
 108 cases reported, 43 individuas had died
 1982: Acquired Immunodeficiency
Syndrome becomes the term used by the
CDC to describe thr unusual outbreak of
opportunistic infection
 1984: Virus HIV is identified by a team of
French scientists
Harald zur Hausen
Born 1936
German Cancer
Research Center,
Heidelberg, Germany
Françoise BarréSinoussi
Born 1947
Institut Pasteur,
Paris, France
Luc Montagnier
Born 1932
World Foundation for
AIDS Research and
Prevention,
Paris, France
2013
AIDS
ETHICS
Ethical Problems
 Do health care practitioners have a duty to treat?
 What is an acceptable risk for health care




professionals?
Should the patient be warned if the health care
practitioner is HIV positive?
Should the practitioner be warned of the patient
is HIV positive?
Should infected practitioners be allowed to
continue practice?
What is the meaning of confidentiality when it
comes to AIDS, and who should be told?
 It is ethically unacceptable to refuse to
treat HIV or take care of HIV-positive
patients simply because they are HIVpositive.
2006: change
http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5514a1.htm
 CDC changed its recommendation about HIV
screening for patients in health care settings
 the recommendations moved away from
specific, explicit informed consent, usually in
written form, to general, implicit consent as
part of the acceptance of medical care.
 previous policies required specific disclosure of
information and a decision to accept or refuse
testing.
 specific, explicit consent would still be expected in
nonclinical settings
2006: change
http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5514a1.htm
 For pregnant women
 HIV screening should be included in the routine
panel of prenatal screening tests for all pregnant
women.
 HIV screening is recommended after the patient is
notified that testing will be performed unless the
patient declines (opt-out screening).
 Separate written consent for HIV testing should
not be required; general consent for medical care
should be considered sufficient to encompass
consent for HIV testing.
 Repeat screening in the third trimester is
recommended in certain jurisdictions with elevated
rates of HIV infection among pregnant women.
Reagan Administration:
„conservative“ approach
 no sex before marriage
 faithfullness in marriage
 no drugs
Clinton Administration:
„pragmatic“ approach
 HIV is not transmissed by sexual
intercourse, byt by unprotected sexual
intercourse
 condom
 throwaway needles
Bushova administrativa 2004 2008
 ABC program
 abstinence
 be faithful
 condoms
CZECH REP.
AIDS centra

1. AIDS Centrum FN Bulovka, Infekční klinika,
Budínova 2, Praha 8, tel.: 266 082 629
2. AIDS Centrum České Budějovice, Nemocnice,
B.Němcové 54, České Budějovice, tel.: 387 874 656
3. AIDS Centrum Plzeň, Infekční klinika FN,
Dr. Beneše 13, Plzeň, tel.:377 402 546 (2264)
4. AIDS Centrum Ústí n.L., Masarykova nemocnice,
Ústí n.L., tel.: 472 770 270
5. AIDS Centrum Hradec Králové, Infekční klinika FN,
Hradec Králové, tel.: 495 832 531
6. AIDS Centrum Brno, FN Bohunice,
Jihlavská 20, Brno, tel.:547 192 276.
7. AIDS Centrum Ostrava, FNsP Ostrava,
17 listopadu 1790, Ostrava-Poruba, tel.: 596 984 253-4