ethical issues in genetic screening for thalassemia …fercap-sidcer.org/newsletter/2013/12/ppt/21...

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

mailto:[email protected]





Outline

Introduction

Methodology

Results

Discussion

Conclusion



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


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


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


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


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


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


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”


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”


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


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


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


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


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


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


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


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


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