- PersatuanGenetik Malaysia

POST E R P R ESENTATIO NS :
H U M AN G
EN ETICS
A Review of Genetic Counselling Service in 1995 and 2005 at the
Genetic Clinic, University Malaya Medical Centre
PH18
l
Thong Meow Keongl and Lee Mei Har Juliana2
Genetics Llnit, Depariment of Paediatrics, Faculty of Medicine, University
2
of Malaya, Malaysia; Depaftment of Medical SocialWork, University
Malaya Medical Centre, Malaysia
CORRESPONDTNG AUTHOR: THONGMK@ UMMC.EDU.MY
lntroduction
While genetic counselling services are widely available in developed countries, this
is not so in most developing countries due to lack of facilities and resources (Thong, 1995;
WHO, 1996), As infectious and nutritional diseases are brought under control, chronic
conditions such as birth defects and genetic disorders began to account for a significant
proportion of human morbidity and mortality (WHO, 1998). With the recent advances in
human genomics research, therapeutic and preventive aspects of genetic conditions are
beginning to make a significant mark on the practise of medicine (WHO, 1999).
One of the important aspects of genetic medicine is genetic counselling (Harper,
2003). Genetic counselling is essential for individuals affected with genetic disorders and
their families. This is to allow them to understand and adjust to the implications of a
genetic condition. During a genetic counselling session, information on the diagnosis,
burden of care, discussion on the recurrence risk, genetic testing, reproductive options as
well as current health management and intervention services available will provided to the
families to allow them to make an informed decision (Thong, 2004). Supportive seryices,
including grief and bereavement counselling, may be needed to help the individuals and
families cope with their daily living.
Recognising
this need, the University of Malaya Medical Centre (UMMC)
established the first Genetic Clinic in 1994.
Objectives
To study the epidemiology and demographic characteristics of patients who
attended the Genetic Clinic at the University Malaya Medical Centre (UMMC) in 1995 and
2005.
Method
The Genetic Clinic of UMMC was established in 1995. Data were collected
prospectively over a period of one year for the session 1994-1995 and 2004-2005,
respectively. lnformation on the diagnosis, sex and race of the patients who attended the
clinic from the two time periods were compared. Data about sources of referral for genetic
counselling, accompanying persons, age of diagnosis and time required for counselling
were also collected from the 1995 database.
Results and Discussion
There was an increase from 137 (1995) to 368 consultations (2005). The
diagnoses of patients who attended were thalassaemia (26 vs '1), chromosomal conditions
(35 vs 56), syndromic diagnoses (20 vs 51), metabolic disorders (11 vs 37), skeletal
dysplasias (8 vs 35), neurological conditions, including developmental delay (17 vs 143),
multiple birth defects (12 vs 27), familial cancers (2 vs 1) and others (6 vs 5). The
diagnoses of 10 patients (2005) were not available. There was no difference in the gender
and racial profiles. The time required for each counselling session increased trom 44.7
minutes (1995) to 50.4 minutes (2005) (range 20 - 90 minutes). From the 1995 data, the
major source of referral was from the Paediatric department (80%), other hospitals (7.3%),
self-referral (6.6%) and other UMMC departments (6.a%) while both parents (68%), one
Proceedings of the dn National Congrcss on Genetics, 12-14 May 2005, Kuala Lumpur
221
POSTEB PRESENTATIONS: HttMAN GENETICS
parent only (27.7%) and one parent with another relative (3.3%) attended the
consultations. The mean age of diagnosis was 23.3 months (range 1-216 months).
Chromosomal and neurological conditions are the main conditions referred for genetic
consultation in 1995 and 2005, respectively.
There was a steady increase in referral to the Genetics Clinic, resulting in the
setting up of a second clinic session per week in 2002. A separate clinic for thalassaemia
patients was established and this was managed by the haematology daycare staff. An
associate genetic counsellor was posted to the Genetics Clinic beginning 2004 and a
separate Cleft Lip and Palate clinic was set up in the Dental faculty in November 2004. As
a longer period of counselling is needed, only a limited number of patients could be
attended to during each session.
Conclusions
There has been steady increase in the numbers and variety of conditions seen at
the Genetic Clinic, UMMC. A separate session is envisaged for neurological conditions
and adult genetic conditions. More trained statf (clinical geneticists and genetic
counsellors) and a Genetic Support Group are required in the near future. Research in
genetic counselling as well as undergraduate and postgraduate programmes in genetic
counselling is required to fill this need. The pioneering experience of genetic counselling
at the UMMC can serve as a model for future development of these services in Malaysia.
Table 1: Descriptive data of patients attendino Genetic Clinic UMMC
1. Diseases
Thalassaemia
Chromosomal
Svndromic
Metabolic
Skeletal Dvsolasia
Neuroloqical
Multiple Birth Defects
Familial Cancer
Others
Diaonosis unavailable
n=137
1995
n=368
2005
26
35
20
56
11
I
17
12
2
6
2. Sex
Male
Female
unknown
1
51
37
35
143
27
1
7
10
71
196
65
172
1
3. Race
Malav
Chinese
lndian
Others
55
60
19
3
4. Time required for counselling
(ranqe 20 minutes-9O minutes)
44.7 minutes
125
187
51
5
50.4 minutes
5. Referralsource
Proceedings of the
{
National Congress on Genetics, 12-14 May 2005, Kuala Lumpur
222
POSTER PRESENTATIONS: HUMAN GENETICS
Paediatric
Self-referral
Other depts
109
I
:
7
OandG
Suroical
Other hosoitals
2
10
6. Accompanvinq persons
Both Parents
One Parent onlv
One Parent and another relative
7. Age of diagnosis
(Ranoe 1-216 months)
93
38
5
23.3 months
Acknowledgement
We like to thank the University of Malaya Medical Centre for providing facilities to
establish the first Genetic Clinic.
References
Thong M.K. (1995) Congenital malformations in Malaysian live births. Master of
Paediatrics thesis , University of Malaya.
World Health Organization (1996). Report ota WHO Scientific Group. Controlof
Hereditary Diseases: WHO Technical Report Series 865, Geneva.
World Health Organization (1998). lnternational Guidelines on ethical issues in medical
genetic and genetic services. Report of a WHO meeting on ethical issues in medical
genetics. Geneva, 15-16 December 1997. Pub. WHO/HGN/GUETH/98.1.
World Health Organization (1999). Services for the prevention and management of
genetic disorders and birlh defects in developing countries. WHO Human Genetics
Programme and World Alliance of Organizations for the Prevention of Birth Defects
(wAoPD).
Thong M.K. (2004) Molecular heterogeneity of beta thalassaemia in Malaysian children.
Doctor of Medicine (M.D.) thesis, University of Malaya.
Harper P. (2003) Practical Genetic Counselling 6th edition Buttenruorth Heinemann Reed
Educational and Professional Publishing Ltd.
Proceedings of the
d'
National Congress on Genetics, 12-14 May 2005, Kuala
Lumpur
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