GENETIC COUNSELING

dr. H.S.M. Soeatmadji

Bagian Genetika Medik Fakultas Kedokteran
Universitas Wijaya Kusuma.
 KONSELING GENETIK:
ADALAH SUATU PROSES KOMUNIKASI DAN
EDUKASI YANG MENANGANI KONDISI-
KONDISI / HAL-HAL YANG TERKAIT DENGAN
PERKEMBANGAN DAN / ATAU TRANSMISI
SUATU KELAINAN HERIDITER.
“Genetic counseling is a communication process
which deals with the human problems associated
with the occurrence, or the risk of occurrence, of a
genetic disorder in a family. This process involves
an attempt by one or more appropriately trained
persons to help the individual or family to :

* comprehend the medical facts, including the

diagnosis, probable course of the disease, and
available management;
* appreciate the way heredity contribute to the
disorder, and the risk of the recurrence in
specified relatives;
* understand the alternatives for dealing with the risk of
reoccurrence;
*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 to
in accordance with the decision; and
* to make the best possible adjustment of the
disorder in an affected family member and/or the
risk of recurrence of that disorder”
 WHAT ARE GENETIC
COUNSELORS :
Genetic counselors are health
professionals with specific graduate
degrees and experience in the areas of
medical genetics and counseling. Most
enter the field from a variety of
disciplines, including biology, genetics,
nursing, psychology, public health and
social work.
Genetic counselors work as members of a
healthcare team, providing information and
support to families who have members with
birth defects or genetic disorders and to
families who may be at risk for a variety of
inherited conditions. They identify families at
risk, investigate the problem present in the
family, interprete information about the
disorder, analyze patterns and risks of
recurrence, and review available options with
the family.
Genetic counselors also provide supportive
counseling to families, serve as patient
advocates, and refer individuals and families
to community or state support services. They
serve as educators and resource people for
other healthcare professionals and for the
general public. Some counselors also work in
administrative capacities.. Many engage in
research activities related to the field of
medical genetics and genetic counseling

Definition adopted by the National society of

Genetic Counselors, Inc. 1983.
 What is genetic Testing ?
A genetic test is the analysis of human DNA, RNA,
chromosomes, protein, or certain metabolites in
order to detect alterations related to a heritable
disorder. This can be accomplished by directly
examining the DNA or RNA that make up a gene
(direct testing), looking at markers co-inherited with
a disease-causing gene (linkage testing), assaying
certain metabolites (biochemical testing), or
examining the chromosomes (cytogenetic testing).
Selected methodology terms are used in the Genes
Tests Laboratory Directory.
Although genetic testing shares some
features in common with other kinds of
laboratory testing, in many ways it is unique
and requires special consideration:

Points to consider:
* Genetic testing may be used for medical
management and for personal decision-
making.
* Genetic test results usually apply not
only to the patient but also to other
family members.
* Genetic testing may be performed in the
context of a genetics consultation and
should be informed consent, test
interpretation, and follow-up medical
and psychosocial services as indicated.
* Because most genetic disorders are
rare, genetic testing is often done only
by specialized laboratories.
* Intense research efforts in molecular
genetics result in rapid the development
and availability of new genetic tests;
therefore, healthcare providers need to
continuously update their knowledge.
* In order for genetic testing to yield
meaningful results :

- multiple test methodologies may

be required
- other family members may need
to be tested
- a genetic consultation may be
appropriate

These services will entail additional costs

 GENETIC COUNSELING:
Since the first introduction of genetic counseling
services approximately 40 years ago many attempts
have been made to devise a satisfactory and all-
embracing definition. A theme common to all is the
concept of genetic counseling being a process of
communication and education that addresses
concerns relating to the development and / or
education of a hereditary disorder.
KONSELING GENETIK:
Tidak terbatas pada
pasien / proband / propositus;
Ruang lingkup juga meliputi
keluarganya.
 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 heriditer; dimensi baru dlm
pengelolaannya:
Memahami resiko genetiknya,
bagaimana mencegah transmisi.
Gmb. 12.1Simbol-2 utk pe-
nyusunan silsilah.
Gmb. 12.2 Contoh silsilah
Tabel 12.1Terminologi utk diskripsi dismorfologi.
Gmb.12.4 Pola sidik jari.

Tabel12.3 Kelainan
dermatoglifi.
Tabel 12.2 Ukuran-2 standar dismorfik
Gmb. 12.3 Tanda-2 fasial.
Pada waktu dilakukan konseling
sering dijumpai kekhawatiran
konsultan (pasutri) yg tidak ber-
alasan untuk hamil lagi, dapat diatasi
dengan memberi “reassurance”,
bahwa resiko untuk mendapat anak
dengan Peny. Genetik TIDAK
BERBEDA dgn resiko yg yg
ditanggung pasutri-2 lain dlm
populasi umum.
Tabel 12.6 Resiko dlm populasi umum.
Kadang-kadang timbul masalah untuk menetapkan
diagnosa, misalnya bila kelainan memperlihatkan
HETEROGENITAS GENETIK:

Suatu kelainan dikatakan memperlihatkan

heterogenitas genetik apabila dapat disebabkan oleh
lebih dari satu mekanisme genetik. Diketahui banyak
kelainan-2 yang memperlihatkan heterogenitas
genetik dan konseling akan sulit bila heterogenitas
meluas ke pola pewarisan yang berbeda.
Contoh-2: Sindrom Ehlers Danlos
Penyakit Charcot-Marie Tooth
Retinitis pigmentosa
dapat bersifat dominan otosom, resesif otosom dan
resesif terkait-X.
Dalam kontek ini (beban mendpt peny. heriditer)
adalah persepsi konsultan (beban fisik/mental/finansial);
Perlu disarankan diagnosa prenatal dan bila bersedia
perlu dirangsang (“encourage”), jika tidak, akan tetap
ragu-ragu dan takut;
Sampaikan opsi-2 reproduksi!

1% dari semua inseminasi artifisial oleh donor

(AID) dilakukan o.k. indikasi genetik:
* suami dg kondisi dominan otosom
* pasutri keduanya “carrier” sifat RA
berat dimana Diagnosa Prenatal tidak
tersedia
Gmb. 12.5 Opsi-opsi Reproduksi.
Tabel 12.7 Pengertian-2 salah ttg heriditas.
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)
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 yalah
FOKUSNYA :
* tidak hanya pada proband
* keluarganya
* saat dijumpai------>terus, dimasa-masa yad.
TANGGUNG JAWAB PROFESIONAL
DLM KONSELING GENETIK:
Dokter secara profesional menjamin bahwa konseling:
* diberikan untuk kasus-2 yg sesuai
* akurat, sesuai dg standar pelayanan genetik
* kerja sama antar pusat-2 pelayanan genetik
(nasional & internasional)
* standardisasi (“quality controle”)
* “collaboration is a logical development, and
sharing of experience improves the accuracy
of genetic diagnosis and counseling”
* kerja sama antar pst penelitian
* asosiasi-2 profesional
* organisasi-2 pendukung (“support groups”)
 UNIT KONSELING PD PUSAT-2
PELAYANAN GENETIK
MERUPAKAN TIM TERDIRI ATAS:
• Clinical geneticist
• Konselor genetik
• Ahli kesehatan anak
• Ahli kebidanan & Kandungan
• Endokrinolog
• Psikolog
• Rohaniwan
• Tim dpt diperluas sesuai kebutuhan
SUPPORT ORGANISATIONS:
(Luar negeri:++ ; Dalam negeri:?)
* diabdikan untuk “self – help”
* p.u fokusnya pd penyakit tertentu, mis.; sindr.
Down atau kelompok Penyakit
* dpt membantu keluarga-2 dg peny.-2 genetik:
- memberi informasi
- membagi pengalaman menghadapi masalah-2 yg sama
(“how to deal with day to day problems caused by the disorder”)
- mendpt informasi ttg perkembangan terbaru dlm terapi dan
intervensi
- “promote research into the condition”
* kerja sama antar support groups------>koordinasi aktivitas
* Kerja sama pusat-2 pelayanan genetik dg support-groups
TANGGUNG JAWAB PROFESIONAL:
(ADA ASPEK-2 ETIS, HUKUM,PSIKOLOGIS)
• Tanggung jawab ini TIDAK melampaui pasien yg minta
konseling (“consultand”), artinya:
Kerahasiaan yg terkait dg konseling hanya dpt dibe-
baskan seijin “consultand”!
Sekalipun sifat diagnosanya /penyakitnya mungkin
dpt menimpa anggota keluarganya sendiri.
Keragu-raguan dpt timbul apabila anggota keluarga lainnya
punya resiko tinggi utk mendpt penyakit yg sama dan tidak
mendpt informasi ttg kemungkinan tsb dan cara-2 pence-
gahannya; mis.: H.D. onset ± 59 th; familial hypercholes-
teremia; Duchenne muscular dystrophy dsb.
MENJADI MASALAH (ETIS) BILA
“CONSULTAND” MENOLAK MEMBERI
IJIN TSB:
• Kondisi ini menjadi salah satu masalah etis serius
dlm genetika medik dn penyelesainnya tak mudah.
USA: pengadilan-2 telah mendukung/ menguat
kan prinsip tanggung jawab dokter
(“the court has upheld the principle of the
physician’s responsibility”).
Kasus I: orang tua dg anak sindr. Down me-
menangkan tuntutan thd dokternya, o.k.
dianggap lalai, tidak memberi saran utk
merujuk minta diagnosa prenatal.
Kasus II:

* Orang tua (pasutri) yg telah diperiksa thd Tay

Sach’s disease (“severe mental and physical
detoriation beginning in infancy”);
* A.R., death occur at age of 2 – 4 yrs;
location; 15q 23 – q 24
* no treatment available
* Prenatal diagnosis (amniocentesis;CVS:DNA
technique).

Hasil pemeriksaan: pasutri bukan carrier, jadi

tidak ber-resiko!
KEMUDIAN TERNYATA DPT ANAK “AFFECTED”!
Pengadilan mendukung “claim of wrongful life”, suatu
pendapat a/n anak bahwa seharusnya tidak dibiarkan lahir.

USA & NEGARA MAJU LAIN:

* DITETAPKAN STANDAR-2 PELAYANAN

GENETIK

* Quality controle yang terpusat utk

laboratorium-2 yg menyelenggarakan
screening test.
OLEH KARENA ITU DOKTER /
GENETIK COUNSELOR HARUS /
SEYOGYANYA BERUSAHA:

* Anamnesa seteliti mungkin

ttg problema-2 keluarga
* Informasi etnik
* Memberi advis/nasehat kpd
orang tua ttg resiko genetik.
KONSELING GENETIK:
* CONSULTAND, DPT ORANG TUA DG
ANAK YG “AFFECTED”

* ORANG DEWASA DG KELAINAN

ATAU KELUARGA DG ANGGOTA KE-
LUARGA YG MEMILIKI MASALAH
GENETIK.

KONSELING GENETIK MERUPAKAN BAGIAN

INTEGRAL DARI DIAGNOSA PRENATAL.
COMMON GENETIC COUNSELING
PROBLEMS:
• Single gene disorders, known or suspected
• Multifactorial disorders, known or suspected
• Chromosomal disorders, diagnosed in the
consultand or a family member
• An abnormal trait or carrier state, identified by
genetic screening
• Prenatal diagnosis for late maternal age or other
causes
• Consanguinity
• Teratogen exposure
• Repeated pregnancy lost or infertility.
STAGES IN CLINICAL GENETIC
SERVICES:
- Preassesment - reason for referral
- collection of fam. history inform.
- clin.exam. & lab.test of relatives
if indicated
- Clinical diagnosis - consultand, possibly other fam.
and management members
- Recurrence risk - based on diagn., pedigree anal.,
estimation test results
- Genetic counseling - nature & consequences of
disorder
- recurrence risk
- means of modific. of conse-
quences
- means of prevent. of recur-
rence (Pren.diagn.-Couns.)
- Follow up care - referral to appropriate clin.
specialist, health agencies,
support groups, as required
- continuing clin. assessment
if indicated
- continuing support by genetic
counselor if indicated.
PREVENTION OF RECURRENCE:
Salah satu tujuan penting utk counseling yalah utk mencegah
terulangnya kelainan genetik tertentu; beberapa cara:

1. Genetic laboratory test: (karyotyping,analisa

DNA/biokimia):
1.1. utk meyakinkan pasutri dg histori kel. genetik bhw
dirinya tak punya resiko tinggi utk dpt anak dg kelai-
nan tersebut
1.2. 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:
4.1. apabila ayah mempunyai kelainan dom. otosom atau
kel. X-linked , kelainan kromosom yang dpt ditrans-
misikan
4.2. tidak dianjurkan apabila ibu yang affected
4.3. bila kedua orang tua “carrier’ kelainan otosom reses-
sif (tes genetic bila memanfaatkan donor sperma!)
5. Pemanfaatan P.C.R. :
Analisa DNA utk embrio-2 dalam stadium preimplantasi.
ASPEK-2 HUKUM KONSELING:
• U.K. CONGENITAL DISABILITIES (CIVIL LIABILITY)
ACT 0F 1976:
* LEGAL ACTION CAN BE BROUGHT AGAINST A PERSON
WHOSE BREACH OF DUTY TO PARENTS RESULTS IN A
CHILD BEING BORN DISABLED, ABNORMAL OR
UNHEALTHY
• IN BOTH THE U.K. AND THE USA THERE HAS BEEN AN
ESCALATION OF LITIGATION CONCERNING GENETIC
DISEASE
• MOST CASES CONCERN PHYSICIAN ERRORS OF
OMISSION, AND IT BEHOVES ALL DOCTORS WHO
PROVIDE GENETIC ADVICE TO ENSURE THE VALIDITY
AND UP-TO-DATENESS OF THAT INFORMATION
* THUS FAILURE (WETHER FROM IGNORANCE OR
RELIGIOUS OBJECTIVES) TO TAKE A FAMILY
HISTORY AND TO FOLLOW UP WITH APPROPIATE
TEST OR REFERRALS AND FAILURE TO GIVE
CORRECT GENETIC ADVICE MAY CONSTITUTE
MEDICAL NEGLIGENCE

* THE CLAIM WOULD FAIL IF AT ANY TIME BOTH

PARENTS KNEW AND ACCEPTED THAT THE
CHILD MIGHT BE ABNORMAL.
Prenatal diagnosis with selective termination
became a reality in the U.K. with the Abortion Act
of 1967.
Under this act one ground for
termination is:
* a substantial risk that if the child
were born it would suffer from such
physical or mental abnormality as to
be seriously handicapped

* Prenatal diagnosis needs informed consent,

and parents should be reminded that no
single test excludes all known fetal
abnormalities and that occasionally the test
fails to give a result.
 TERIMA KASIH ATAS
PERHATIAN ANDA SELAMA
KULIAH.