Rare World: Designing for Dispersed Populations with Rare Diseases
Genetic Diagnosis, ethnography and patient driven research
1. New Horizons In Genetic Diagnosis
Alicante, march 18th and 19th 2013
The Social Construction of Predictive Genetics and the
Need for a Patient Driven Research
An ethnographic approach
to biomedical policy making in PGD/PCS
- CARLOS BEZOS DALESKE -
2. A simple car commercial can
tell us a lot about our society
3. A car is
• A physical object
• An important element of economy and social
relations
• A symbol
4. Mechanics,
Thermodynamics
and Chemistry
Manufacturers and Capital
Advertising and
branding
5. SCIENCE SOCIAL RELATIONS NARRATIVES
Mechanics, Manufacturers and Capital Advertising and
Thermodynamics branding
and Chemistry
TECHNOLOGY
7. …and more
SOCIAL RELATIONS • Power
• Class
• Gender
• Flows of goods,
capital, people
• Values
• Symbols
• Materials
The creation and positioning of • Resistance
social groups in relation to
other in a given society • Transgression
• ETC. ETC.
8. NARRATIVES
Transmission of knowledge,
values and believes for the
reproduction or change of
social relations …
12. Cobweb of predictive genetics PDG/PCS
Religous and
Diseases that can moral believes:
Science and be avoided
research whatis a human?
Brave new world
narratives & fears
from present
Industry and
employment
Patients
Brave new world
Marketing
Fears from the
past
13. Clifford Geertz and Cultures as text
Applying ethnography
and thik description to
predictive genetics
14. Ethnography of two clinics:
London and Leeds
Insight 1: creation and polarization of narratives
• Doctors and scientists create a narrative of
science fiction around PGD:
- “brave new world”, “revolution of genomics”, “a
world free of hereditary diseases”
• Media react with narrative of designer baby
and scientists going too far
• Activists and patients associations react with
narrative of eugenics and science playing god
“Born and Made” authors
Sarah Franklin and Celia Roberts
• Politicians work with narratives of one or the
other field
Methodology: • Genetic determinism is the shared believe of
• Participant observation at two researchers, physicians, activists, media and
PGD centers in the UK politicians
• Interviews
• Media and policy analysis
15. Ethnography of two clinics:
London and Leeds
Insight 2: patients suffer; they do not want designer babies
• Patients come with a lot of previous suffering
- Miscarriages
- Infant death
- Living with a disabled child
• They do not express the wish of phenotype selection or other kind of
selection
• The driver for PGD is suffering
16. Ethnography of two clinics:
London and Leeds
Insight 3: patients are not in the center of
research
• Research is done for the patient, not with the
patient
• Marketing strategies reflect positivist
narratives of biosociety and genetic
determinism
• Marketing strategies are not built around
patient’s needs and suffering
• Service design is clinical centric, not patient
centric
17. Ethnography of two clinics:
London and Leeds
Insight 4: debate is oversimplified or overrationalised
• Researchers and physicians are also uncertain about the future
• They are far from genetic determinism and biosociety narratives
• Scientific progress is paradoxical and contradictory: it is no linear
• Futorology narratives are built by marketing departments and by media
• Public debate becomes thus oversimplified at media and overrationalised
at science
18. Ethnography of patients associations
Methodology:
• Participant observation at New Zealand Organization of
Rare Disorders NZORD
• In depth Interviews with families
Ruth Fitzgerald, author of Biological citizenship at
the periphery: parenting children with genetic
disorders
19. Ethnography of patients associations
Insight 1: Difficult relationship with biomedical
sciences
• Disabled people experience testing as if they
could have been erased
• Patients live their disease and disability as part
of their identity they want to cure, but also not
to be deleted
• Medicine is seen both as a hope for cure and as
a threat against identity
20. Ethnography of patients associations
Insight 2: Activism gives collective identity
• Living with disability is almost a military
campaign
-24 hour care
- Dealing with 30-40 government actors
- Dealing with the extended family for help
• Small victories in individual battles have
benefit for all the patient community
• Sense of pride and belonging: disease becomes LAM (Lymphangioleiomyomatosis) charity
auction UK
identity
• Differences and fights among activists: “my
disease worse than yours, I have more right to
support”
21. Ethnography of patients associations
Insight 3: Differences private opinions
and behaviors vs. public opposition to
genetic testing
• In depth interviews show that all
activists love their children and fight for
them
• But most of them would never go again
through the experience
• Many would make a test now if given the
possibility
• Other lines of conflict:
-“what would my (born) children say if I
deprived them from life and did not do
everything for them?”
- versus “what would my (unborn) children
say if I brought them to a life of severe
suffering?”
22. Ethnography of patients associations
Insight 4: Ethical and religious
believes come rather from
experience, than from opinion
makers and churches
• Attitudes towards genetic testing
are deeply rooted in pursue of virtue
and “do the right thing”
• Opinion leaders and churches do
not play a key role
• Rather the personal experience of
suffering
• For some, “you find God in giving
yourself to those that are broken”
• Others get broken caring for their
children
• The decision making point are ideas
on human dignity and when an
embryo becomes a human being.
23. The politics of Human Embryo Research –
Construction of the Human Fertilisation
and Embryology Act 1990
1978 first in vitro fertilisation baby
1978 first use of PGD
1996 first cloned higher vertebrate One of leading countries stem cell
derivation
24. The politics of Human Embryo Research –
Construction of the Human Fertilisation
and Embryology Act 1990
Departing question of Mary Warnock for
the report
• What kind of society can we live in with a
clear conscience?
Premises to answer the question
1. Take seriously the diversity of moral
feelings
2. Barriers not to be crossed. No limits =
no scruples
Mary Warnock, 1990
3. Aknowledeg opposite views and get
maximum of consense
25. The politics of Human Embryo Research –
Construction of the Human Fertilisation
and Embryology Act 1990
A new social contract for bioscience
• Obtain the maximum of scientific innovation with the strongest
regulation
• Socially acceptable and socially unacceptable are categories that bring
us further than right or wrong
26. Breaking the cobweb – the logic of power
1. Diane Wood’s husband, Stephen, dies of
meningitis
2. The physician takes without permission
sperm from the corpse
3. Diane Wood was legally prohibited to
use it for pregnancy
4. As a professional publicist she started an
effective campaign with tabloid support
5. She went to Belgium to get pregnant
from Liam and later Joel
6. 2002 she sued for puting Stephen’s
name on her childrens birth certificate
and won
By her single action, Mrs. Wood
broke the cobweb and forced the
actor to position themselves .
27. Applications of ethnographic approaches
to predictive genetics
PUT THE PATIENT IN THE CENTER!
• Patient experience maps WITH patients
from the first pain until end of
treatment
• Patient experience far beyond clinic or
hospital contact
• New services and products created out
of the maps in orther to overcome
saturated channels and markets
30. Applications of ethnographic approaches
to predictive genetics
CREATE PATIENT COMMUNITIES TO FIND THEIR REAL NEEDS AND CO-
DESIGN GENETIC TEST SERVICES / CLINICAL SERVICES
On line Real
31. CONCLUSIONS
1. Marketing narratives on genetics rise fears and create
designer babies narratives
2. What patients says is one thing, what they do is another
3. Suffering and not baby design is the driver for PGD
4. “Science fiction” like marketing narratives are origined
because patients are not in the center of research.
5. Patients, even disabled, don’t view predictive genetics as
baby design or eugenesic
32. CONCLUSIONS
6. Good vs. bad to be stopped as argument: better acceptable
and not acceptable
7. A close work with patiens in the research phase is
important to see what is acceptable or what can be made
acceptable, and what services can be co-designed.
8. There are tools for patient involvement:
• Patient community building
• Patient driven / centered research
• Crowdsourced research
