RETNO DWI WULANDARI

Juni 2014

What is Genetic Counseling?

Proses komunikasi
ditujukan untuk kepentingan individu terkait dengan
perkembangan/transmisi suatu kelainan genetik .
Bersifat komunikatif dan supportive, sehingga (individu2) yang
mencari informasi tsb dapat memutuskan (berdasarkan informasi
yang telah didapatkan) tanpa tekanan atau stress.

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Istilah-2
consultand = individu yang mencari konseling
consultand, dpt orang tua dg anak yg affected
orang dewasa dg kelainan atau keluarga dg anggota keluarga yg
memiliki masalah genetik.

What Information should be provided?

Diagnosis, implikasinya dalam hal prognosis dan
treatment yang ada.
Pola pewarisan kelainan dan resiko perkembangan
dan/atau transmisi kelainan.
Pilihan atau opsi yang tersedia dalam menghadapai
resiko tersebut.
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Steps in Genetic Counseling

Diagnosis - based on history, examination and
investigations
Risk assessment
Communication
Discussion of Options
Long-term contact and support
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Konseling genetik dilakukan oleh satu atau lebih konselor

genetik untuk membantu seseorang atau keluarga untuk :
Memahami fakta2 medis, termasuk diagnosis, perjalanan penyakit dan
manajemen yang tersedia.
Mengetahui faktor hereditas kelainan dan resiko berulang pada
keluarga
Memahami alternatif yang ada dalam menghadapi resiko berulang tsb.
Choose the course of action which seems to them appropriate in view of
their risk, their family goals, and their ethical and religious standards, and
act in accordance with the decision
to make the best possible adjustment of the disorder in an affected family
member and/or the risk of recurrence of that disorder

KONSELING GENETIK:

(AKTIVITAS INTI DALAM GENETIKA MEDIK)

Menangani langsung penderita, diagnosa, terapi
Membantu keluarga lebih memahami sifat penyakit
yang diderita, bagaimana perawatan dan cara
penanggulangan
Memberi informasi; apabila jelas bahwa kelainannya
herediter, dimensi baru dalam pengelolaannya:
Memahami resiko genetiknya, bagaimana mencegah
transmisi.

KONSELING GENETIK:

Tidak terbatas pada

pasien / proband / propositus;
Ruang lingkup juga meliputi keluarganya.

Establishing the Diagnosis

most crucial step in any genetic counseling
if incorrect - totally misleading information could be given with tragic
consequences
reaching diagnosis involves three fundamental steps
taking a history
examination
undertaking appropriate investigations
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Simbol-simbol pada pedigree

Establishing the Diagnosis cont..............

Information about consultands family is obtained by skilled genetics
nurse or counselor
pre-clinic telephone or home visit is helpful
clinic visit - full examination
appropriate tests - chromosomes, molecular studies, referral to
specialists (neurology, ophthalmology)
PROBLEM - Genetic Heterogeneity, and etiologic heterogeneity
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Genetic Heterogeneity
Definisi: kelainan yang disebabkan >1 mekanisme genetik
Contoh:
Ehlers Danlos
AD, AR, XR
Charcot-Marie-Tooth
AD, AR, XR
Retinitis Pigmentosa
AD, AR, XR

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Terminologi utk diskripsi dismorfologi.

Tanda-2 fasial.

Ukuran-2 standar dismorfik

Calculating and Presenting the Risk

straightforward counseling situations - little more than knowledge
about Mendelian inheritance is needed
parents must be given as much background as possible
recurrence risks should be quantified, qualified and placed in context
Problems:
delayed age of onset
reduced penetrance
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Proportion of Genes Shared

Proportion
shared genes

Risk of abnormality
in offspring

1/2

50%

Second degree:
Uncle-niece
Aunt -nephew

1/4

5-10%

Double first cousin

1/8

3-5%

Genetics relationship
of partners
First degree :
Parent-child
Brother-sister

Quantification
Kebanyakan orang tua memiliki beberapa konsep resiko.
(berdasar pengalaman)beberapa mis-interpretasi yang terjadi
Resiko 1: 4 mungkin diingat sebagai 4:1 , 1:40 atau bahkan 14%
Resiko hanya terjadi pada anak ke 4 saja.

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Qualification - Nature of a Risk

factor which influences parents when deciding whether to have
another child is nature of the long-term burden associated with a
risk rather than precise numerical value
high-risk of 1 in 2 for a trivial problem (polydactaly) will not deter
many families while a low risk of 1 in 25 for a disabling condition
(NTD) can have a significant deterrent effect

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

PREVENTION OF RECURRENCE:
Salah satu tujuan penting counseling : mencegah terulangnya
kelainan genetik tertentu melalui beberapa cara:

1. Genetic laboratory test: (karyotyping, analisa DNA):

- utk meyakinkan pasutri dg histori kelainan genetik bahwa
dirinya tak punya resiko tinggi utk dpt anak dg kelainan tsb.
- tes-tes ini dpt dipakai sbg indikasi tindakan preventif
2. Bila tidak ingin mempunyai anak atau tidak ingin menambah
anak: kontrasepsi atau sterilisasi (penjelasan ttg prosedur /
rujukan
3. Orang tua yg ingin punya anak atau tambah anak, saran adopsi

4. Inseminasi artifisial:

- apabila ayah mempunyai kelainan autosomal dominant

kelainan kromosom yang dpt ditransmisikan
- tidak dianjurkan apabila ibu yang affected
- bila kedua orang tua carrier kelainan autosomal recessive
(tes genetic bila memanfaatkan donor sperma!)
1% dari semua inseminasi artifisial oleh donor (AID) dilakukan
o.k. indikasi genetik:
* suami dg kondisi dominan otosom
* pasutri keduanya carrier sifat autosomal recessive
berat dimana Diagnosa Prenatal tidak tersedia
5. Pemanfaatan PCR :
Analisa DNA utk embrio-2 dalam stadium preimplantasi.

Discussing the Options

provide consultands with all information needed to arrive at their
own informed decision
details of all the choices open to them - include a complete
discussion of reproductive options
alternative approaches to conception - AID, donor ova
review of techniques, limitations and risks associated with methods
available for prenatal diagnosis
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Opsi-opsi Reproduksi.

Communication and Support

Communication - two way process
Counselor provides information
Receptive to fears and aspirations: expressed or
unexpressed by consultant
Information - present in clear, sympathetic
and appropriate manner
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

KONSELING GENETIK:
* Non-judgemental
* Non-directive

Agar efektif / berhasil / mencapai sasaran, penting

sekali:
DIAGNOSA AKURAT
Tempat khusus (tenang)
Waktu cukup ( 30 menit ), bila perlu > 1 2 kali
Kedua orang tua !!
Jangan tergesa-gesa, mis. Baru kesusahan (anak /
bayi meninggal (bhs sederhana)
Guilty feeling (stigmata)

Directive or Non-Directive
Universal agreement - non-coercive with no attempt to direct
consultand along a course of action
Non-judgmental - even if decision reached seems ill-advised
Unwise to answer What would you do if placed in my position?
rather consideration should be given to consequences of each
possible course of action
remember - counsultand has to live with consequences!!!
Basics of Genetic Assessment and Counseling.
Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Special Problems in Genetic Counseling

Consanguinity and Incest
Adoption and genetic disorders
Disputed Paternity

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

Consanguinity and Incest

Consanguineous Marriage is between blood relatives who
have at least one common ancestor no more remote than
great-great grand parent
Incest - union between first degree relatives (brothersister, parent-child)

Basics of Genetic Assessment and Counseling.

Charles J. Macri, MD. OBGYN Genetics.
What is Genetic Counseling?

SIFAT KHUSUS KELAINAN GENETIK

KECENDERUNGAN TERULANG DLM KELUARGA

DIAGNOSA SUKAR
MEMBERI CACAD SEUMUR HIDUP
PERAWATAN LAMA (MAHAL)
Perawatan / pelayanan utk kelainan genetik harus berkualitas
tinggi / kognitif / laboratoris; (labour intensive) mahal
Aspek istimewa dari konseling genetik ialah:
FOKUSNYA :
* tidak hanya pada proband
* keluarganya
* saat dijumpai terus, dimasa-masa yang akan datang.

Pengertian-2 salah tentang heriditas