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ETHICAL ISSUES IN
GENETIC SCREENING
FOR THALASSEMIA
IN INDONESIA
By: Ns.Septi Dewi Rachmawati, Skep, MNg (Faculty of Medicine University of Brawijaya) email: [email protected] or [email protected]
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Outline
Introduction
Methodology
Results
Discussion
Conclusion
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Introduction
- The most common inherited single-gene disorder
- New cases: 2.500/ year in Indonesia
- Life-long dependence on blood transfusion and chelation
therapy ($20-30 thousands/ patient/ year in Indonesia)
- Screening test, Genetic counselling, Prenatal diagnosis
- Involves issues of being inheritance, sharing genetic
information, reproductive decision
Evidence of Thalassemia
Treatments for Thalassemia
Prevention of Thalassemia
Risks for Ethical Problems,
Essential for conducting an investigation
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Investigate the ethical issues raised by
genetic screening for thalassemia by
exploring the psychological and social
implication of carrier testing and
genetic counselling practices on people
identified as carriers
Purpose of the study
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Methodology
• A Phenomenology qualitative approach
• An exploration of individual lived
experiences & seeking the meaning
embedded
- Purposive sampling technique
(Having children with thalassemia, Carriers,
Having experiences in genetic screening &
genetic counselling)
- Sample Recruitment: in the paediatric ward
- 6 parents (12 people) were invited
- 6 Mothers selected as participants
An in-depth interview with semi-
structured questions taking roughly
one hour
Methodology
Design
Sample
Data
Collection
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
1. Familiarizing yourself with your data 2. Generating initial codes
3. Searching for themes
4. Reviewing
themes
5. Defining and naming themes
Methodology cont…
Data Analysis Braun & Claurke (2006) thematic analysis:
6. Producing the report
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Methodology cont…
• Credibility
• Confirmability
• Transferability
• Fittingness
• Respect for Persons (Voluntary participation,
Informed consent)
• Beneficience (Favourable risk/ benefit ratio)
• Justice (Fair selection, sharing of risk
& benefit)
Methodology
Methodological
Rigour
Ethical
Consideration
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Results
1. Psychosocial reaction;
between joy and sorrow
2. Negative social stigma
3. Fear of discrimination
4. Reproductive decisions dilemma
5. Truthfulness and braveness to share
genetic information with the children
Six (6)
Themes
Emerged
6. Religious belief influence regarding abortion
decision in prenatal screening
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 1 Psychosocial reaction; between joy and sorrow
Participants expressed psychological distress,
sadness, feelings of shock & fatigue
Some mothers described their experiences as
being positive
Understand more about thalassemia, being closer to
God, more appreciative of the “little things in life”
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 2 Negative social stigma
Most of participants suffered from a social
stigma because of being inheritance of the
disease (thalassemia)
The stereotype of “the inheritance of thalassemia”
revealed a meaning that “being a carrier of a chronic
illness trait is a negative thing”
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 3 Fear of discrimination
Participants expressed feeling “differed from
others”
Worried about social acceptance (if people
would treat them differ from “ normal people”)
Some mothers worried about sustainability of
social support and national policy
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 4 Reproductive decisions dilemma
All participants stated they did not know that they or their
husband were carriers of the thalassemia gene until they have
children diagnosed thalassemia and got screening test for
thalassemia
Some respondents experienced dilemma for taking a decision to
have another child (a dilemma between “happiness to have
another child and fear to face burdens of care because of having
children with thalassemia”)
However, Some mothers believed that a child is a blessing from
God, so they do not have to be worried for having another child
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 5 Truthfulness and braveness to share genetic information
with the children
Participants experience psychological challenges
once they have to share genetic information with the
children
It was hard for some mothers to tell the truth and be
brave to explain that they were carriers of a chronic
disease and they children would have risks to be a
carrier or suffered from thalassemia
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Theme 6 Religious belief influence regarding abortion decision
in prenatal screening
Participants noted that the genetic counseling have
informed them well about prenatal screening test
Some mothers explained their view that they may
reject the termination of the pregnancy to prevent
thalassemia for religious and cultural belief reasons
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Discussion
Enhancing
Knowledge
The main issues embedded in the themes are highlighted then
the similar notions are gathered into a specific topic
discussion.
Compared to previous study:
Prevention of thalassemia program is not widely
applied in Indonesia
Similar to previous studies:
Screening test and genetic counseling have
increased participants knowledge
Comprehensive understanding gained includes
thalassemia disease, how to prevent
thalassemia, benefits and procedure of
screening test/ genetic counseling, how to gain
access and share genetic information, and
possible consequences being carriers
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Discussion cont…
Similar to previous studies:
Parents getting genetic screening identified as
carriers experienced various psychosocial
strains
In this study, positive impact is found
Society support is essential for releasing
mothers’ strain
The process of identifying and labelling
difference in the stigmatisation process is
influenced by the social assumption about the
particular chronic illness in the community
Psychosocial
Barriers
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Discussion cont…
Spiritual beliefs is identified as the strength
and core spirit
Abortion especially for reducing th ebirth of
new cases of thalassemia is a sensitive
issue widely debated in Indonesian society
Ethnicity and spiritual belief may influence
mothers in the process of decision making
(Reproductive decision and pregnancy
termination decision if prenatal screening
is conducted)
Spiritual &
Cultural
Influences
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
Conclusion
Screening test and genetic
counseling could provide
profound benefits
Educating society is valuable
for creating positive
perception/ assumption and
building social support
Prevention of thalassemia
has psychosocial implication
which may raise some
ethical problems
Screening test and genetic
counseling applied should
concern the Spiritual and
cultural values
Presented at 13th FERCAP International Conference, Bali 17-20 November 2013
References Aydinok, Y, Erermis, S, Bukusoglu, N, Yilmaz D, &Solak, U 2005,‘Psychosocial implications of thalassemia major’, Pediatrics
International, vol.47, pp.84-89.
Barnum, BS 2003,Spirituality in Nursing; From traditional to new age, 2nd edn, Springer Publishing Company, New York.
Braun, V & Clarke, V 2006,‘Using thematic Analysis in Psychology’, Qualitative Research in Psychology, vol.3, pp.77-101.
Friedman, MM, Bowden, VR, Jones, EG 2003,Family Nursing; Reasearch, theory, and practice, 5th edn, Prentice Hall, New
Jersey.
Gallo, Agatha M, Angst, Denise, Knafl, Kathleen A, Hadley, Emily, Smith, Carrol. (2005). ‘Parents sharing information with their
children about genetic conditions’, Journal of Paediatric Health Care.Vol.19, no.5, pp.267-275.
Hockenberry, MJ, Wilson, D, Winkelstein, ML & Kline, NE 2007,Wong’s nursing care of infants and children, 7th edn, Mosby, St
Louis.
Manuk, KL & Schmidt, NK 2004,Spiritual care in Nursing Practice, Lippincott Williams & Wilkins, Philadelphia.
Pilnick, A &Dingwall, R 2000, ‘Research directions in genetic counseling: a review of the literaure’, Patient Education and
Counseling, vol. 44, pp.95-105.
Prasomsuk, S, Jetsrisuparp, A, Ratanasiri, T &Ratanasiri, A 2007, ‘ Lived experiences of mothers caring for children with
thalassemia in Thailand’, Journal for specialists in pediatric nursing, vol.12, no.1, pp.13-23.
Polit, DF & Beck, CT 2008,Nursing research: Generating and assessing evidence for nursing practice, 8th edn, Lippincott
Williams & Wilkins, Philadelphia.
Sapountzi-Krepia, D, Roupa, Z, Gourni, M, Mastorakou, F, Vojiatzi, E, Kouyioumtzi, A., et al. (2006).A qualitative study on the
experiences of mothers caring for their children with thalassemia in Athens, Greece. Journal of pediatric nursing, vol.21,
no.2,pp.142-152.
Shah, A 2004,‘Thalassemia syndromes’, Indian Journal of medical sciences, vol.58, no.10, pp.445-449.
Speziale, HJS & Carpenter, DR 2007,Qualitative Research in Nursing: Advancing The Humanistic Imperative, 4th edn,
Lippincott Williams & Wilkins, Philadelphia.
Sudrajaja, C 2008,‘Policy analysis of abortion in Indonesia: The Dynamic of sate power, human need and women’s right’,
Institute of Developmental Studies Bulletin, vol.39, no.3, pp.62-71.
Weatherall, D.J. (2003). The thalassemia; the role of molecular genetic in an evolving global health problems. Journal of Human
Genetic, vol.74, pp.385-392.