Dokter Blog: from the desk of Rahajeng Tunjungputri

Medicine et cetera by @ajengmd

Genetic Counselor and Ideas from Psychotherapy

I rarely post about genetic counseling, but to answer the basic questions, this is a clear explanation of what a genetic counselor is (ABGC, 2010):

A genetic counselor is a health care professional who is academically and clinically prepared to provide genetic counseling services to individuals and families seeking information about the occurrence, or risk of occurrence, of a genetic condition or birth defect.

The genetic counseling process involves the collection and interpretation of family, genetic, medical and psychosocial history information. Analysis of this information, together with an understanding of genetic principles and the knowledge of current technologies, provides clients and their families with information about risk, prognosis, medical management, and diagnostic and prevention options. Information is discussed in a client-centered manner while respecting the broad spectrum of beliefs and value systems that exist in our society. The genetic counseling process ultimately facilitates informed decision-making and promotes behaviors that reduce the risk of disease.

A very interesting book on genetic counseling provides a very useful insight. Below is my summary of the fourth chapter of the book, “Genetic Counselor and Ideas from Psychotherapy” (Evans, 2006):

Chapter 4: The role and skills of the counsellor and ideas from psychotherapy

(From Genetic Counselling by Christine Evans, page  61-82)

The role of the counsellor

There are different opinions on the role of counsellor. Some of these opinions are genetic counsellor as information provider or facilitator of decision-making. Another opinion stated that genetic counsellor play a role in assisting decision-making and helping to prepare clients for the result and to facilitate the client in accepting the meaning of a test result.

In practice, there change between the role of information provider and facilitator is a dynamic process. When a patient gives emotional response after information is given, then the role of the counsellor is more as a facilitator than information provider. The elements of genetic counselling are review of the family history, present and past relationships and attitudes, self-reflection, decision-making and coping. There is also a need to process emotions and contain anxiety. Skills repertoire of genetic counsellor may be expanded with additional ideas taken from general theory of psychotherapy.

Principles from psychotherapy

Winnicott (1971) and Bion (1959) emphasise the attitude and skill needed in professional relationship. There is also a need to understand the link between emotion and thinking in genetic counselling.

The structure of the interview

The interview takes place within a physical space, a time space and a psychological


The physical space

The physical space of genetic counselling may be anywhere as long as the purpose is clear and there’s an agreed agenda for both patient and genetic counsellors. The space is more of an interactional space of discussion between the counsellor and patients or also with the family. The genetic counsellor is responsible for the time, focus, and approach.

The time space

A consultation may be similar to a music piece with a beginning that then builds up in the middle and ends with a conclusion. Within a time space patients can bring what is relevant about their condition to the genetic counselling process. Ending the meeting session may be difficult for the genetic counsellors or the patient, and the counsellor has to be able to let go and allow the patient to find their own way or manage their situation with the support of friends or family or alone.

The psychological space

The professional relationship between patients and genetic counsellors is also a psychological space where there is a potential for sharing feelings, developing thinking and decision-making. During the consultation, the counsellor needs to be aware and consider of how the patient is registering the experience.

The elements of a therapeutic professional relationship

The ‘facilitating environment’ and ‘potential space’

Winnicott (1971) and Bion (1959) developed understanding of the conditions needed for building a therapeutic encounter. Winnicott’s stated that genetic counsellors must have particular qualities – an attitude of being emotionally available, supportive, aware and understanding of the patients’ vulnerability. That relationship could then facilitate emotional growth and development in professional consultation. Bion (1959) stated that in the professional relationship there needs to be an ability of the counsellor to tolerate negative emotions, to be able to internally process them and transform them into positive feelings of empathy, concern and compassion. The counsellor is not disturbed by the patient’s high anxiety, but understands the fear, is able to tolerate it and gently and compassionately conveys that sentiment. In a more contractual language the counsellor and patient have to set up a working alliance.

The working alliance

This term refers to the necessity for the counsellor and patient to work together to complete the agreed tasks.

Bordin (1982) considers that there are three components to the working alliance: a consensus between the counsellor and patient on the goals of the encounter; an agreement on the topics and number of meetings to address how the goal is achieved; and, most importantly, the development of a strong affective bond between the professional and patient.

The co-construction of purpose of an interview with the definition of roles

A natural corollary to the working alliance is the idea of the co-construction of the purpose of the interview where the counsellor and patient jointly agree on the purpose of the interview. The counsellor must allow considerable space for the patient to tell their story, but also to keep the focus of the discussion. Sometimes, it may be difficult to interrupt a patient who is telling a personally significant and painful story but with skill and experience the counsellor will be able to balance listening to the story and focusing on the genetic task.


Empathy is a ‘feeling state’ of being able to understand someone else’s subjective experience and is the essential skill in human interaction. It is the ingredient the counsellor needs to establish the secure base of relationship with patients. To achieve this special form of communication, the counsellor has to suspend personal ideas and views to be receptive, linked and attuned to the patient in order to understand the other person’s mindset.

Facilitating thinking

Genetic counsellors must aid decision-making and facilitate patients to process the effects of a result. The patient then must be able to self-reflect, which means not only experiencing, but also thinking about the experience. The ability to self-reflect results in thinking aloud, reflecting, integrating and also assessing one’s present position and comparing it to one’s former self. This self-reflection gives an overview and a deeper understanding.

Communicative competence and listening skills of integrating meaning

The counsellor should identify key words used by the patient and follows the train of thought, joins with the thinking process. The counsellor must also read the non-verbal behaviour and consider the level of intelligence. For example, the counsellor revealed a more complete understanding by pausing and summarising the story of the patient.

The use of metaphor

Metaphor language can facilitate an understanding where logical thought, clarification or explanation has failed. The use of metaphor allow the patient and counsellor away from the direct problem to look at it in another way, which is not personal but capture the similar problem of the patient.

Summary points

  • The genetic counselling process involve creating a physical and psychological space which facilitates the patient.
  • Anxiety of the patient may be contained when the genetic counsellor is empathetic and understand the patient’s experience.
  • Metaphors, listening and communication skills of the counsellor may facilitate the patient better.
  • Further on, the genetic counsellor must develop the patient’s ability to self-reflect, make decisions, and deal with the emotions and frustrations.

Further reading:

American Board of Genetic Counseling (ABGC), 2010. Genetic Counseling As A Career. [Online] American Board of Genetic Counseling. Available at [Accessed 26 June 2010].

Evans C., Biesecker B., 2006. Genetic Counselling, A Psychological Conversation. Cambridge: Cambridge University Press.


26 June 2010. Rahajeng.


Filed under: miscelaneous, , , , , , ,

Seorang laki-laki dengan PPOK eksaserbasi akut dan Hipertensi stage 2



Nama                               : Tn. A

Umur                                : 63 tahun

Jenis kelamin                   : Laki-laki

Agama                             : Islam

Alamat                             : Desa Tanggul  Rt /Rw 004/001 Jepara

Masuk RS                        : 26 Desember 2008



Masalah Aktif



Masalah Pasif



Penyakit paru obstruktif kronik



Hipertensi stage 2



1. Anamnesis

Autoanamnesis dengan penderita di bangsal Anggrek pada tanggal 27 Desember 2008 pukul 11.00 WIB

  • Keluhan Utama : sesak
  • Riwayat Penyakit Sekarang :

–          1 minggu sebelum masuk RSUD Kartini penderita batuk (+), dahak warna putih, panas (-).

–          3 hari sebelum masuk RS penderita mengeluh batuk (+), dahak kental warna kekuningan, panas (-). Penderita merasa tubuh lemas.

–          1 hari sebelum masuk RS penderita mengeluh sesak terus-menerus, namun tidak mengganggu aktivitas. Dahak semakin banyak, kental, warna kuning. Panas (+).

Keringat malam hari (-), batuk darah (-), nyeri dada (-), dada berdebar-debar (-), mual (-), muntah (-), BAK dan BAB tidak ada keluhan.

–          ± 8 jam sebelum masuk RSUD Kartini, penderita mengeluh sesak nafas, dirasakan makin bertambah dan mengganggu aktivitas. Sesak makin berat dengan aktivitas.

–          Riwayat kaki bengkak (-), terbangun di malam hari karena sesak (-).

–          Riwayat kontak dengan penderita dengan batuk lama (+), yaitu adik penderita.

–          Riwayat merokok (+) 1 pak/hari, berhenti 6 tahun yang lalu.

  • Riwayat Penyakit Dahulu
    • Riwayat dirawat di RS (+) tahun 2007 karena sesak. Penderita dirawat kurang lebih 1 minggu, pulang dengan keadaan membaik.
    • Riwayat Hipertensi (+), tidak kontrol teratur
    • Riwayat Diabetes Melitus disangkal
    • Riwayat penyakit jantung disangkal
    • Riwayat asma disangkal
    • Riwayat pengobatan TB sebelumnya disangkal
  • Riwayat Penyakit Keluarga

Adik penderita yang tinggal 1 rumah, menderita batuk > 3 minggu.

  • Riwayat Sosial Ekonomi

Penderita tidak bekerja. Memiliki 4 orang anak yang sudah mandiri. Penderita tinggal 1 rumah dengan adiknya. Biaya pengobatan ditanggung ASKESKIN. Kesan sosial ekonomi : kurang.

2. Pemeriksaan fisik

Pemeriksaan fisik dilakukan tanggal  27 Desember 2008 pukul 11.15 WIB.

KU                 : sadar, tampak lemah, terpasang kanul oksigen, terpasang infus di lengan kanan bagian bawah.

Tanda Vital    : N    : 88 x / menit, isi dan tegangan cukup

T     :  170/100 mmHg

RR  :  24x / menit, reguler

t     : 38,2°C

Status Internus

BB = 46kg       PB = 162 cm     BMI= 17,6 (Underweight)

Kepala           : mesosefal, turgor dahi cukup

Rambut         : hitam, tidak mudah dicabut.

Kulit               : sianosis (-), ikterik (-).

Mata              : cekung (-), conjungtiva palpebra anemis (–/–), sklera ikterik (-/-)

Hidung           : epistaksis (-), nafas cuping (-)

Telinga           : discharge (–), nyeri tragus (-)

Mulut             :                         bibir kering (-), selaput lendir kering (-), sianosis (–)

Tenggorok     : T1-1, vaskuler injeksi (-),faring hiperemis (-),

Leher             : Deviasi trakea (-), pembesaran nnll (-/-), kaku kuduk (-/-)

Dada   : Inspeksi         : venektasi (-), barrel chest (+), sela iga melebar (+)

Paru       : Inspeksi           : simetris statis dinamis, retraksi (+), SIC melebar (+)

Palpasi            : stem fremitus kiri sama dengan kanan

Perkusi            : hipersonor seluruh lapangan paru

Auskultasi       :

Ka = SD Vesikuler menurun. Ronki kasar (+), wheezing (+), eksperium memanjang pada seluruh lapangan paru atas, tengah, bawah.

Ka = SD Vesikuler menurun. Ronki kasar (+), wheezing (+), eksperium memanjang pada seluruh lapangan paru atas, tengah, bawah.

Ronki kasar +/+Wheezing +/+

Eksperium memanjang

Ronki kasar +/+Wheezing +/+

Eksperium memanjang

Jantung            :               Inspeksi             : Ictus cordis tak tampak

Palpasi            : Ictus cordis teraba di SIC V, 2 cm medial Linea midclavicularis sinistra, tidak kuat angkat, tidak melebar

Perkusi            : batas jantung kanan di linea parasternalis dx

batas jantung kiri di linea medio axillaris sinistra

Kesan konfigurasi jantung dalam batas normal

Auskultasi       : Bunyi jantung I-II normal, bising (-), gallop (-)

Abdomen                   : Inspeksi           : datar, venektasi (-)

Auskultasi       :  bising usus (+) normal

Perkusi            : timpani, pekak sisi (+)N, pekak alih (-)

Palpasi            : Hepar dan lien tak teraba, turgor kulit kembali cepat, nyeri tekan (-)

Genital           :dalam batas normal

Ekstremitas   :                  Superior                      Inferior

Sianosis                       – / –                              – / –

Akral dingin                 – / –                              – / –

Anemis                                    – / –                              – / –

Capillary refill              < 2 ”                             < 2”

  1. Pemeriksaan Penunjang

Lab. Darah (26 Desember 2008)

  1. Hb      : 11,4 g/dl                                Leuko  : 16.100 /mmk

Ht       : 31,7%                                    GDS    : 156

Trombosit : 406.000/mmk

Kesan     :  Leukositosis


Seorang laki-laki, usia 70 tahun dirawat di RSUD Kartini dengan keluhan utama sesak napas. 3 hari sebelum masuk RS penderita batuk (+), dahak kental warna kekuningan, panas (-). 1 hari sebelum masuk RS penderita mengeluh sesak terus-menerus, namun tidak mengganggu aktivitas. Karena sesak makin bertambah kemudian penderita berobat ke RSUD.

Pada pemeriksaan fisik didapatkan :

KU                 : sadar, tampak lemah, terpasang kanul oksigen, terpasang infus di lengan kanan bagian bawah.

Tanda Vital    : N    : 88 x / menit, isi dan tegangan cukup

T     :  170/100 mmHg

RR  :  24x / menit, reguler

t     : 38,2°C

Paru            :             Inspeksi             : simetris statis dinamis, retraksi (+), SIC melebar (+)

Palpasi            : stem fremitus kiri sama dengan kanan

Perkusi            : hipersonor seluruh lapangan paru

Auskultasi       :

Ka = SD Vesikuler, ronki kasar (+), wheezing (+), eksperium memanjang pada seluruh lapangan paru atas, tengah, bawah.

Ka = SD Vesikuler, ronki kasar (+), wheezing (+), eksperium memanjang pada seluruh lapangan paru atas, tengah, bawah.

Jantung              :     tak ada kelainan

Abdomen           :     tak ada kelainan

Ekstremitas        :     tak ada kelainan

Pemeriksaaan Penunjang
  1. Hb      : 11,4 g/dl                                Leuko  : 16.100 /mmk

Ht       : 31,7%                                    GDS    : 156

Trombosit : 406.000/mmk

Kesan     :  Leukositosis


  1. PPOK eksaserbasi akut
  2. Hipertensi stage 2


1. PPOK eksaserbasi akut

Assesment   : Mengetahui adanya infeksi sekunder

IP Dx    S     : –

O   : LED, diff count, sputum BTA 3x, X foto thoraks AP lateral

IP Tx            :  O2 3 L/m kanul

Infus asering 16 tpm + Aminofilin 1 amp/500 cc Asering

Injeksi Cefotaksim 2 x 1 gram iv

Injeksi Ranitidin 3 x 1 ampul


Salbutamol 3 x 2 mg

Ambroxol 3 x 1 tab

IP Mx           : keadaan umum, tanda vital, keluhan sesak

IP Ex            :

–          Menjelaskan pada penderita dan keluarga bahwa penderita memiliki PPOK yang sedang mengalami kekambuhan.

–          Menjelaskan pemeriksaan dan pengobatan yang akan dilakukan di RS.

–          Menjelaskan pada penderita untuk menjaga kesehatan, makan makanan dengan gizi seimbang, menghindari polusi udara dan asap rokok.

2. Hipertensi stage 2

Assesment   : Etiologi, komplikasi

IP Dx S        : –

O          : TG, Kolesterol, HDL, LDL, asam urat, GDS.

IP Tx            : Captopril 3 x 12,5 mg

IP Mx   :       Keadaan umum, tekanan darah

IP Ex     :

  • Menjelaskan bahwa penderita perlu mengkonsumsi diet kaya sayuran, buah, rendah lemak dan rendah garam.
  • Menjelaskan bahwa penderita perlu melakukan aktivitas fisik misalnya berjalan kaki setidaknya 30 menit/hari, 3x seminggu.
  • Menjelaskan bahwa penderita perlu kontrol teratur.


Pada kasus ini telah dilaporkan pria 63 tahun dengan PPOK eksaserbasi akut dan hipertensi stage II. Dasar diagnosis pada pasien ini adalah:


–       Sesak napas

–       Batuk berdahak yang makin berat 3 hari terakhir

–       Malaise

Pemeriksaan fisik

–       Kesadaran compos mentis, tampak sesak

–       Tanda vital RR = 24x/menit (takipnea)

–       Dada emfisematous

–       Suara napas vesikuler melemah

–       Ekspirasi memanjang

–       Ronki kasar dan wheezing

Pemeriksaan penunjang didapatkan leukositosis yang menandakan adanya infeksi, yang kemungkinan menyebabkan atau memperberat eksaserbasi akut dari PPOK.

Diagnosis hipertensi stage 2 didapatkan dari pemeriksaan tekanan darah yaitu 170/100 mmHg.


Prinsip pengelolaan meliputi aspek keperawatan, medikamentosa dan dietetik.

  1. Aspek keperawatan

Pasien dengan PPOK eksaserbasi akut ini dirawat inap karena terjadi eksaserbasi akut dengan perburukan gejala sesak napas dan batuk yang makin purulen. Selain itu rawat inap juga berguna untuk melakukan pengawasan dan pemeriksaan lebih lanjut.

Dilakukan tirah baring, posisi tubuh setengah duduk atau sesuai kenyaman pasien untuk bernapas, pengawasan keadaan umum, tanda vital, serta perkembangan gejala.

  1. Aspek medikamentosa

Di UGD pasien mendapat:

–       O2 3L/menit kanul

–       Nebulizer yang terdiri dari Bisolvon, Berotec, Atrovent

–       Infus Asering 16 tpm + Aminofilin 1 ampul

–       Injeksi Cefotaxim 2 x 1 gram iv

–       Injeksi Ranitidin 3 x I ampul

–       Salbutamol 3 x 1 tablet

–       Ambroksol 3 x 1 tablet

Nebulizer sebagaimana dijelaskan dalam GOLD bermanfaat jika terjadi eksaserbasi yang diperkirakan dapat mengurangi efektivitas inhaler. Pasien diberikan nebulizer dengan kombinasi Bisolvon, Berotec, Atrovent.

Aminofilin diberikan sesuai anjuran GOLD sebagai bronkodilator pada eksaserbasi akut yang berat. Sementara itu β-agonis tetap diberikan sebagai preparat oral.

Pemakaian Ambroksol sebagai mukolitik selama pasien mengalami eksaserbasi akut masih dipertanyakan, namun kegunaannya terbukti efektif untuk mengurangi eksaserbasi, meredakan gejala penderita bronkitis kronik. Efek ini kemungkinan disebabkan karena mukolitik dapat mengurangi hipersekresi, dan kemungkinan, jumlah bakteri di jalan napas. Namun peneliti masih mengingatkan bahwa mukolitik bisa jadi tidak cost-effective untuk semua pasien PPOK dan bisa jadi hanya menguntungkan pada pasien dengan penyakit berat atau eksaserbasi yang sering[i],[ii].

Pemberian antibiotik pada pasien ini sesuai indikasi berdasarkan algoritme pemberian antibiotik pada pasien PPOK. Gejala yang timbul menunjukkan bahwa pasien mengalami eksaserbasi sedang, tanpa komplikasi sehingga dapat diberikan preparat golongan Cefalosporin berupa Cefotaxim.

  1. Aspek dietetik dan edukasi

Diet yang diberikan pada penderita ini adalah 3 kali nasi. Edukasi yang diberikan mengenai PPOK adalah:

–       Anjuran untuk kontrol teratur

–       Anjuran agar pasien patuh dengan jadwal minum obat/menggunakan inhaler

–       Anjuran agar pasien menghindari faktor risiko seperti asap pembakaran, asap rumah tangga dari kompor, merokok maupun asap rokok dari perokok di sekitarnya.

Edukasi yang diberikan berhubungan dengan hipertensi adalah mempertahankan berat badan dalam rentang ideal, melakukan aktivitas fisik aerobik setidaknya 30 menit per hari, mengkonsumsi buah-buahan dan sayuran dan makanan rendah lemak, serta mengurangi asupan garam dalam makanan sehari-hari.


Prognosis untuk kehidupan (quo ad vitam) adalah ad bonam, karena tidak adanya kegawatan selama pasien berada di rumah sakit. Prognosis terhadap kesembuhan (quo ad sanam) dan fungsi (quo ad fungsionam) adalah ad bonam, dengan penanganan yang berkelanjutan untuk memperbaiki kualitas hidup pasien.

[i] White, C. Mucolytic useful for COPD, guidelines say. BMJ. 2004 February 28; 328 (7438): 486.

[ii] Marton KI. Oral Mucolytic Drugs Help with COPD. Journal Watch General Medicine, June 26, 2001.

Filed under: miscelaneous, , , , , ,

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Medicine is a growing field, and information presented here is reflective of the time of posting. Please refer to your physician for direct medical consultation. My views do not reflect those of my employers. --
Regards, Rahajeng

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