Genetic

Counseling in
Indonesia: Where are we?
RAMDAN PANIGORO
Research Center of Medical Genetics
Faculty of Medicine, Universitas Padjadjaran
 Genetic counseling

• Counseling: the job or process of listening to someone and giving that

person advice about his/her problems (Cambridge dictionary).

• Genetics: a branch of medical science which concerned with the

transmission of characteristics from parents to offspring.

• Genetics counseling: is a process of by which patients or relatives, at

risk of an inherited disorder are advised of the consequences and nature
of the disorder, the probability of developing or transmitting it and giving
them open options to genetic testing, management and family planning in
order to prevent or avoid it.
 The Role of Genetic counselor
1. Provide the family with inherited disease accurate information
regarding genetic disorder
2. Provide risk assessment for family members to get the disease.
3. Clarify the family’s options available for diagnosis, treatment and
prognosis
4. Explaining alternatives to reduce the risk of genetic disorder
5. Interpretation of the genetic testing result
6. Try to reduce the impact of knowing the test result in family
members (emotional, psychological and social consequences).
7. Guaranteed the privacy of genetic information of the
patient/client.
 Who provides Genetic counseling?
• Clinical Geneticist : is a medical doctor specialize in clinical genetics
and counseling à in The Netherlands is 4 years specialization after
MD or MD/PhD

• Genetics Counselor: is health professional (non-medical doctor)

(nurses, midwife, pharmacist, biologist, psycologist) with specialized
training in medical genetics and counseling à Most of genetic
counselor held a master degree as genetic counselor and certified
by genetic counselor association in each country/region and
licensed by state/country.

• What is the differences between those two?

Clinical Geneticist could diagnosed the patients and prescribe
medicine but Genetics counselor could not
 Who is in need for Genetics counseling ?

1. Person with known hereditary genetic disease & planning to

have children
2. Person whose their family members have been diagnosed
with genetic disease (monogenic disorder or Cancer).
3. Prenatal diagnosis when parents are both carrier for genetic
recessive disease (e.g Thalassemia) or one of parent is
affected by late onset autosomal genetic disease (e.g
Huntington’s disease).
 Genetic diseases

• Monogenic disease (Mendelian Disorder)

- autosomal dominant
- autosomal recessive: Thalassemia (the most monogenic disease in
Indonesia, carrier ~10%, thaller ~ 10 million)
- X-linked: Hemofilia
- Y-linked

• Polygenic/complex disease: Diabetes Type 2, Asthma

• Cancers : Familial cases (~5-10%) & Sporadic Cases

 Genetic Counseling in Asia
• Asia is the largest & most populous continent in the world with
> 4.5 billion population (~ 60% of the world population).
• Genetic disorder affect ~5.32% of birth follow up to 25 years of
age à this means around 240 million persons in Asia affected
with genetic diseases.
• Therefore, medical specialist who can provide genetic
evaluation, genetic testing and counseling for individuals and
families are needed.
• Almost all countries in Asia have recognize the critical need for
genomic & genetic testing also for training in clinical
genetics/genetic counselor.
 Genetic Counseling in Asia
• In Asia, clinical genetic & Genetic counseling is at diverse
stages of development and maturity.
• Most of the training programs are in academic training
centers/universities à exposure to clinics/hospital is a major
component.
• Majority of training combining of clinical and research training
à broad & integrated approach in diagnosis, management of
patients and also research discoveries for better patient care.
• Based on recommendation from the Royal College of
Physicians UK à 6-12 genetic counsellors/1 million population
are needed.
 Genetic Counseling in Asia
Negara Concept Started in Curriculum Degree
3 years of traning as
12 months in Pediatric
Genetics & Genomic
Genetics, 6 months clinical
Pediatric (GGP) is
and Laboratory rotation (on
subspeciality under
either Cytogenetics,
Hong Kong College
Hong Kong 2017 molecular genetics, MSc/Mphill/PhD
of Pediatric
bioinformatics or metabolic
(HKCPead) -->
genetics), 12 months of
proposal & draft of
elective training, 6 months
curriculum was
overseas training
established in 2014
3-yr board-certified Clinical
Genetics training in
Fellowship in
conjunction with the
Australasia & 1997 ?
Human Genetics Society in
Malaysia abroad
Australasia & 1 year
fellowship abroad
Pediatric Clinical
Subspeciality
2005 -
Geneticist
 Genetic Counseling in Asia
Negara Concept Started in Curriculum Degree

2000 2 years fellowship Program

Pediatic Society- 2 years fellowship Program

Accreditated Clinical and expanded to provide Clinical
Genetics Fellowship genetic counseling for Geneticist
The Philippines program 2016 prenatal diagnosis, risk
assesment of & genetic
counseling for cancer
patients and their families
Master of Sciences
MSc (Genetic
in Genetic 2011 2 years program
Counseling Counsellor)
Medical specialist
from respective
area (pediatrics, Training overseas as clinical Clinical
1965
oncology, geneticist Geneticist
cardiology, etc)
Singapore
(USA, UK, etc)
Subspeciality in NUS
The training modul
hospital and KK Clinical
2018 included in curriculum of
Women's and
senor resident Geneticist
Children's hospital
 Genetic Counseling in Asia
Negara Concept Started in Curriculum Degree
Training requirements and
academic qualifications
Subspecialty of Clinical
1990 established by the Clinical
Pediatrics Genetics subspecialty Geneticist
subcommittee
Taiwan Genetic counsellor are
Master degree
certified by Taiwan Human
program for Genetic
2003 Genetic Association (THGS) &
Genetic Taiwan Association of Counsellor
Counselling Genetic Counselling (TAGC)
2 years fellowship training
program for Internists and
Fellowship training Paediatricians organized by
in Clinical Genetics Royal College of Pediatrics Medical
2013 and Department of Medicine Geneticist
under Medical
Thailand Council of Thailand of Mahidol university.
Certified as Medical
Geneticist from USA

Short course Short Course on genetic Genetic Counsellor

2005 counselling for thalassemia for Thalassemia
training programs
 Genetic Counseling in Indonesia
v The Eijkman Institute for Molecular Biology was established in
1993 in Jakarta --> provides genetics training mainly in advance
laboratory work for diagnosis of genetic disease

v Since 2006 –present: Universitas Diponegoro (UNDIP) set up a

master program on Genetic Counseling --> the very first program in
Asia

v Indonesian Society of Human Genetics (InaSHG) heald some short

courses in “Genetic Counselor” however this program is not
produce “genetic counselor).

v Clinical Genetics service mostly is given by pediatricians,

Obstetrician and PhD graduated from abroad
 Genetic Counseling in Indonesia
Genetic counseling education in Indonesia:
Master of Biomedical Sciences, majoring in Genetic Counseling in University of
Diponegoro:
• The Master’s Course in Genetic Counselling
earns 44 semester credit units (SCU). For first
year, lectures and practical work both
laboratory and clinic; and runs for a second
year, consisting of a research project and
writing up a thesis.

• Graduated from this program work as scientist

& genetic counsellor in hospitals, private
clinical laboratory (e. g Prodia) &
University/University Hospitals in Indonesia.
 Genetic Counseling in Indonesia
At Research Center of Medical Genetics FK-Unpad /RSHS : 3 Genetic
Counsellors à mostly work as genetic counsellor in prenatal diagnosis &
ambiguous genitalia
Siti Aminah, dr, SpPS(K).,
Bremmy Laksono, drg, Msi.Med
Msi.Med (Dept. of Neurology)
(Dept of Biomedical Sciences/IKD)
Focus on:
Focus on:
- Prenatal diagnosis
Neurodegenerative diseases
- Ambiguous genitalia
; Fragile-X, Spinocerebellar
Ataxia

Almira Zada, dr, Msi.Med

(Dept of Biomedical Sciences/IKD) Genetic Counselor

Focus on:
- Ambiguous genitalia
? specialized in
Oncology ??

- Neurodegenerative
diseases
 Genetic Counseling in Indonesia

• Advances in Sequencing Technology, such as “Next-Generation

Sequencing” , many foreign and local molecular diagnostic
companies offer “genomics & genetics testing”: To interpret
the results, genetic counselor is needed

• Burden of genetic disease such as Thalassemia and Cancer is

getting higher in Indonesia (data BPJS & RISKESDA)

Hence, the need for clinical geneticist &

genetic counselor in Indonesia increase
 Familial Cases in Cancers
Ø Breast Cancer
- Leading case in female cancer in West Java since 2010
- Incidence of breast cancer in Indonesia increase every year with the rate
is 48.9 in 100.000
- Mostly diagnosed at the late stage
- Early detection & treatment needs to be developed
- The onset of breast cancer < 40 years in West Java ~ 15.2 %
(Azhar. Y, et al. 2020)

There is a high possibility that early

onset breast cancer is familial cases

- Family pedigree analysis need to be done

- If positive that cancer is running in the family à refer
the patients and family members for Genetic Counseling
 Familial Cases in Cancers
Ø Breast Cancer
5-10% of breast cancer cases are familial (autosomal dominant)

Angelina Jolie’s Double Mastectomy:

What We Know About BRCA Mutations and Breast Cancer?
Women/Men at risk (refer to Genetic
Counselor/Clinical Geneticist)
1. Genetic testing
2. Annual MRI surveillance
3. Mastectomy
 Familial Cases in Cancers
Ø Li-Faumeni Syndrome (autosomal dominant) à wide range of
cancer running in the family caused by inherited TP53 or CHK2
mutation
 Familial Cases in Cancers

ØThere are many more type of inherited Cancers in

which “genetic testing” could be done as early as
possible to prevent the disease development.

ØFor this familial cases, Involvement of “Genetic

Counselor” in crucial as well as the availability of
“genetic testing”.
 Genetic Testing

1. Polymerase Chain Reaction & Sanger Sequencing : Point

mutation, small insertion/deletion, Sequence repeat expansion
(e.g microsatellite instability in colon cancer)
2. Multiplex ligation-dependent probe amplification (MLPA) : big
insertion/deletion.
3. qPCR: to check gene fusion
4. Pyrosequencing: DNA methylation identification/profiling
5. SNPs Array
6. FISH
7. Next-Generation-Sequencing (NGS)
 Genetic Testing: Next Generation Sequencing
• Since beginning of 2020, we have our own NGS
machine in Molecular Genetic lab (Gd. RSP, Lt. 3).

• We can use MiSeq NGS system for sequencing Genes

panels for certain genetic disease including Cancer.

MiSeq – Illumina System

 Genetic Testing: Next Generation Sequencing

MiSeq – Illumina System

 Genetic Testing: Next Generation Sequencing

MiSeq – Illumina System

 What is Next?

Ø Advocacy to Ministry of Health concerning “the need” of Genetic

Counselor or Clinical Genetics in Indonesia à by IDI and/or
Indonesian Society of Human Genetics (InaSHG)

Ø For Genetic counsellor education à there is one Master

program for Genetic Counselor in UNDIP à encourage other
university including UNPAD to start similar program

Ø Collaborate with other institution abroad in Asia or others

countries who could provide the education on “genetic
counselor and also certified the program.
References
1. Cutingo-de la Paz E.M, et al . “Training in Clinical Genetics and Genetics
Counseling in Asia” . Am J. Genet, 2019;181C:177-186
2. Azhar Y. et al. “ Breast Cancer in West Java: Where do We Stand and Go?.
Indonesian Journal of Cancer, 2020:14(3):91-96
3. Zats O, et al. “ Genetic Counseling/Consultation in South-East Asian: A
Report from the Workshop at the 10th Asia Pacific Conference on Human
Genetic”. J. Genet Counsel. 2013:22:917-924
4. Laurino, Y.M, et al. “ A Report on Ten Asia Pacific Countries on Current
Status and Future Directions of the Genetic Counseling Profession: The
Establishment of the Professional Society of Genetic Counselors in Asia. J
Genet Counsel. 2018, 27:21-23