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

Outline Introduction Methodology Results Discussion Conclusion

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Introduction Evidence of Thalassemia -

The most common inherited single-gene disorder New cases: 2.500/ year in Indonesia

Treatments for Thalassemia - Life-long dependence on blood transfusion and chelation therapy ($20-30 thousands/ patient/ year in Indonesia)

Prevention of Thalassemia -

Screening test, Genetic counselling, Prenatal diagnosis Involves issues of being inheritance, sharing genetic information, reproductive decision

Risks for Ethical Problems, Essential for conducting an investigation Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Purpose of the study 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

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Methodology Design

• •

A Phenomenology qualitative approach An exploration of individual lived experiences & seeking the meaning embedded -

Methodology

Sample -

Data Collection

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 semistructured questions taking roughly one hour

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Methodology cont… Data Analysis Braun & Claurke (2006) thematic analysis:

2. Generating initial codes

1. Familiarizing yourself with your data

3. Searching for themes

6. Producing the report

4. Reviewing themes 5. Defining and naming themes Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Methodology cont… Methodological Rigour

Methodology

• • • •

Credibility Confirmability Transferability Fittingness

• Respect for Persons (Voluntary participation, Informed consent)

• Beneficience

Ethical Consideration

(Favourable risk/ benefit ratio)

• Justice (Fair selection, sharing of risk & benefit)

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Results 1. Psychosocial reaction; between joy and sorrow 2. Negative social stigma

Six (6) Themes Emerged

3. Fear of discrimination 4. Reproductive decisions dilemma 5. Truthfulness and braveness to share genetic information with the children

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 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

Enhancing Knowledge

Similar to previous studies: Screening test and genetic counseling increased participants knowledge

have

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 Psychosocial Barriers

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

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

Discussion cont… Spiritual beliefs is identified as the strength and core spirit

Spiritual & Cultural Influences

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)

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

Screening test and genetic

has psychosocial implication

counseling applied should

which may raise some

concern the Spiritual and

ethical problems

cultural values

Presented at 13th FERCAP International Conference, Bali 17-20 November 2013

References           

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