Effects of a Genetic Counseling Model on Mothers of Children

Prévia do material em texto

ORIGINAL RESEARCH
Effects of a Genetic CounselingModel onMothers of Children
with Down Syndrome: A Brazilian Pilot Study
Marcos Ricardo Datti Micheletto &
Nelson Iguimar Valerio & Agnes Cristina Fett-Conte
Received: 26 December 2011 /Accepted: 4 June 2013 /Published online: 23 June 2013
# National Society of Genetic Counselors, Inc. 2013
Abstract Down syndrome occurs in approximately 1:600
live births. Genetic counseling is indicated for these families
and may be beneficial for adaptation to the challenges that
accompany by this diagnosis. Although the basic counseling
goals are similar, there are many models of genetic counsel-
ing practiced around the world. The aim of this article is to
report the results of a pilot study that evaluated the level of
satisfaction with a model of service delivery of genetic
counseling practiced in Brazil, the knowledge assimilated
about Down syndrome and whether this process resulted in a
feeling of well-being and psychological support. Thirty
mothers of under 6-month-old children with Down syn-
drome were interviewed after having two sessions of genetic
counseling in a public healthcare service within a period of
30 days. A semi-structured questionnaire was developed by
the researchers to collect identification, socioeconomic and
demographic data and to assess the client’s satisfaction with
the model of genetic counseling. Data were collected using
both open and closed questions. The reported level of satis-
faction was high. The knowledge assimilated about Down
syndrome after only two sessions was considered technically
vague by raters in 44 % of cases. Most mothers (96.7 %)
reported that genetic counseling was beneficial and provided
psychological support. The model was considered satisfac-
tory, but further research is needed to identify ways to im-
prove knowledge retention by this population. These results
highlight the utility of referring families for genetic counsel-
ing when there is a suspicion of a diagnosis of Down
syndrome.
Keywords Brazil . Service delivery model . Parents .
Satisfaction . Down syndrome . Genetic counseling .
Adaptation . Psychological support
Introduction
Genetic Counseling (GC) is a communication process that
aims at assisting parents and relatives to comprehend,
amongst other things, the diagnosis, etiology, prognosis, oc-
currence or reoccurrence risks, possibilities for treatment and a
means by which to adapt to the circumstances imposed by the
condition, with psychological support and unconditional pos-
itive respect for the autonomy of the family. According to the
GC Definition Task Force of the National Society of Genetic
Counselors, this process integrates the following: interpreta-
tion of family and medical histories to assess the chance of
disease occurrence or recurrence,education about inheritance,
testing, management, prevention, resources and research, and
the promotion of informed choices and adaptation to the risk
or condition (National Society of Genetic Counselors’
Definition Task Force et al. 2006). The majority of existing
studies on the psychological impact of GC conclude that such
counseling does not seem to have an adverse psychological
effect (Elwyn et al. 2000; Biesecker 2001; Girisha et al. 2007;
Smets et al. 2007).
The models of service delivery for GC are very variable
around the world, even though they are based on standard
M. R. D. Micheletto
Psychology Service, Medicine School of São José do Rio Preto
(FAMERP-FUNFARME), São Paulo, Brazil
N. I. Valerio
Department of Psychiatry and Medical Psychology, Medicine
School of São José do Rio Preto (FAMERP-FUNFARME),
São Paulo, Brazil
A. C. Fett-Conte
Molecular Biology Department, Medicine School of São José do
Rio Preto (FAMERP-FUNFARME), São Paulo, Brazil
M. R. D. Micheletto (*)
Laboratório de Genética - Hospital de Base (Hemocentro),
Av. Brigadeiro Faria Lima, 5544, CEP: 15090-000, São José do Rio
Preto, São Paulo, Brazil
e-mail: dattimicheletto@hotmail.com
J Genet Counsel (2013) 22:784–794
DOI 10.1007/s10897-013-9619-x
goals, such as nondirectiveness. They are affected by the
cultural context in which they occur. Even so, little is known
about the ways in which GC varies from culture to culture and
how counselees are affected by the GC process. Accordingly,
Jonassaint et al. (2010), state that local or regional sociocul-
tural factors, more than ethnicity and socioeconomic status,
may influence the public’s awareness and belief systems,
particularly with respect to genetics. GC with culturally and
religiously diverse clients is a challenge that requires compe-
tence in this area (Warren 2011). The acculturation level is an
important factor to consider in competent GC; the process
includes eliciting cultural information relevant to counseling
and decision-making and identifying barriers to effective,
culturally sensitive communication (Barragan et al. 2011).
It is known that ethnic identity may influence perceived
benefits and barriers related to genetic testing and GC. Thus,
GC services should take these factors into account and create
culturally-appropriate conditions which best meet the needs of
heterogeneous patient populations (Alsulaiman et al. 2012;
Sussner et al. 2011). For example, Fransen et al. (2010) rated
ethnic differences in the participation of women in prenatal
screening for Down syndrome (DS) in the Netherlands.
Compared to Dutch women, those from Turkey, North-
African, Aruban/Antillean and other non-Western ethnic ori-
gins were less likely to participate in screening.
The importance of cultural context is clear in cases of DS
too. For example, in Pennsylvania, a survey of the feelings of
couples with school-age DS children suggested a diminished
influence of physicians’ early counseling on parental deci-
sions, attitudes and rearing practices. In contrast, undefined
“personal feelings,” parent’s own research and input from
community parent groups were major influences (Springer
and Steele 1980). Ethnic variations related to beliefs about
personal consequences of having a child with DS were report-
ed by Fransen et al. (2007). Muranjan et al. (2012) studied the
blame ascription among Indian parents of children with DS
and studied its correlation with sociodemographic factors,
parental perception of dysmorphisms and parents’ knowledge
about DS. GC was associated with better knowledge of par-
ents about DS.
The populations of developed countries, such as the USA,
are discussing clinical guidelines, regulatory policies and the
educational effort that will be needed to promote the in-
formed use of the genetic tests that are being sold and
advertised to consumers and healthcare providers, as well
as the impact on healthcare providers selling and advertising
genetic tests directly to consumers (Myers 2011). In contrast,
the majority of the populations in underdeveloped countries,
including Brazil, the Philippines, India and Turkey, do not
seem have the minimum knowledge about genetic terminol-
ogy or biological concepts (Mohanty and Das 2011;
Tschudin et al. 2011; Abad 2012). For example, consanguin-
eous marriages that are rare in developed countries are still a
GC challenge in some populations with around 1.1 billion
people currently living in countries where consanguineous
marriages are customary (Strauss 2009; Chkioua et al. 2011;
Hamamy et al. 2011).
It is clear that counselees from different countries differ in
demographic and medical characteristics and this could af-
fect their pre-counseling cognition and psychosocial vari-
ables. As research outcomes may not therefore be easily
transferable between countries (Albada et al. 2011), a multi-
disciplinary approach is essential to develop adequate GC
adapted to a particular social, cultural and economic context.
The effectiveness of the GC process depends not only on
the social and cultural aspectsbut on the professional’s human
experience and counseling abilities (Kessler 2001; Phelps
et al. 2008; Battista et al. 2012). Never will the counseling
given by one counselor in one situation be the same as that
given by another. Moreover, counseling performed by one
team for one family with a particular type of problem will
not be identical to that for another family with exactly the
same problem. The process is so dynamic that it cannot be
predicted. Measurements of satisfaction and the efficacy of
this complex activity are very difficult. They involve several
barriers such as the definition of a construct of satisfaction and
an appropriate methodology (Kasparian et al. 2007).
Research data that assess client satisfaction with GC are
scarce worldwide and adequate evaluation instruments are
also limited (Collins et al. 2003; Kasparian et al. 2007) espe-
cially in Brazil. The most frequently described data are the
level of knowledge assimilated by clients, the emotional con-
sequences, reproductive decisions and expectations (Braitman
and Antley 1978; Veach et al. 1999; DeMarco et al. 2004;
Kasparian et al. 2007; Mikkelsen et al. 2009; Corrêa and
Guilam 2006; Guilam and Corrêa 2007; Peters and Petrill
2011). With the aim of creating a patient-developed outcome
measure (PROM) for clinical genetics services, McAllister
et al. (2011) reported the Genetic Counseling Outcome
Scale, a PROM for clinical genetics services which is a
relatively new and useful scale to evaluate patient benefits
with genetic services but has yet to be validated in clinical
practice settings outside of the United Kingdom
There are varied interpretation until of the term service
delivery models and the methods that may influence the suc-
cess or challengers of a particular model. This highlighted the
need to define them (Black andWeiss 1989; Elwyn et al 2005;
Apicella et al. 2006). In this context, recently the leadership of
American National Society of Genetic Counselors researched
and assessed the capacity of all existing service delivery
models to improve access to genetic counseling services in
the context of increasing demand for genetic testing and
counseling. They proposed that current models of service
delivery can be defined by: 1) the methods in which genetic
counseling services are delivered (in-person, telephone, groups
and telegenetics), 2) the way they are accessed by patients
Effects of a Genetic Counseling Model 785
(traditional referral, tandem, triage, rescue and self-referral)
and 3) the variable components that depend upon multiple
factors unique to each service setting. The proposal provides
a starting point whereby standardized terminology can be used
in future studies that assess the effectiveness of these described
models to overcome barriers to access to genetic counseling
services. According them, defining and standardizing the clas-
sification of models will make easy to study the efficiency,
efficacy, and the impact of various methods of service delivery
on access to genetic counselors (Cohen et al. 2012).
Unlike the United States or other developed countries,
there is little information about how GC is carried out in
Brazil and there are no specific guidelines or models adapted
to the population necessities. Brazil is the largest and the
most populous country in Latin America with approximately
191 million inhabitants. The predominant religion is cathol-
icism and abortion is illegal; exceptions exist for rape victims
and when there is imminent risk to the mother’s life. The
frequency of abortions performed in inappropriate and clan-
destine conditions is so high that this is considered a public
health problem. There was intense debate and the law has
been reviewed (Guilam and Corrêa 2007; Diniz 2011;
Instituto Brasileiro de Geografia e Estatística 2011). To get
an idea of the cultural issue that involves the abortion in
Brazil, this behavior was considered morally wrong by about
97 % of 2,095 respondents in 211 Brazilian municipalities
(Instituto Data Folha and Garcia 2007).
In many countries where abortion of malformed fetuses is
legal, this is an option considered and discussed with couples
during GC (Balcom et al. 2012; Chasen and Kalish 2013).
Legal, criminal and other types of restrictions on abortion in
Brazil are discriminatory, making access to services and qual-
ity information difficult, thereby making the right to sexual
and reproductive health vulnerable and restricting the effec-
tiveness of public health policies with an obvious impact on
GC. The ban on abortion in Brazil can influence the choices of
couples and the counselor during GC. Many who wish to
interrupt the pregnancy do not do so for fear of legal conse-
quences or do not find support in the public health system,
while others make abortion clandestinely (Arilha 2012).
The availability of and access to genetic evaluations and
counseling are still rudimentary. The majority of the few
services with clinical geneticists offer GC through the public
healthcare system and are predominantly located in the
southeastern region of Brazil and affiliated to universities.
Few have much experience in the care of specific diseases or
areas (hereditary cancer, muscular dystrophy or prenatal
diagnosis). The majority of services counsel patients and
families with variable kinds of problems, such as birth de-
fects, advanced parental age, consanguinity, mental retarda-
tion, recurrent miscarriages or fetal anomalies detected by
genetic prenatal diagnostic methods. The majority of patients
and families do not know about genetic services and are
referred by other healthcare professionals. There are no
specific government and professional organizations policies
for practice. GC is carried out by physicians, generally
trained in medical residency programs in clinical genetics,
and by other healthcare professionals, including biologists,
with professional training by post-graduation programs in
genetics of academic institutions that give the titles of master
and doctor (PhD). Thus, all non-physicians who are pro-
viders of GC in Brazil have one or both of these titles.
There are some physicians that do medical residency in other
areas, such as gynecology or neurology, and have master and
PhD titles in genetics (Zatz 2005; Monlleó and Gil-da-Silva-
Lopes 2006; Palmero et al. 2007).
One of the most frequent referrals for GC in Brazil is DS.
About one in every 600 live births presents DS worldwide,
the most common example of a neurogenetic aneuploid
disorder (Roinzen and Patterson 2003). Its prevalence in
the US population is about 1:691 live births (Oster-Granite
et al. 2011). It results from all or part of an extra chromosome
21 producing deregulated gene expression in the brain that
gives rise to several consequences on intellectual and phys-
ical development, including hypotonia, typical facial traits
and intellectual disability. The appearance of individuals
with DS is easily recognized and social stigmatization and
discrimination exist (Roinzen and Patterson 2003; Gardiner
et al. 2010), which can promote negative feelings in parents
and relatives (Kastner 2004). On the other hand, early inter-
ventions often increase the capacity and potential of children
with DS and can help the family endure, survive, and even
thrive in the face of ongoing challenges associated with
raising a child with DS (Van Riper 2007). In some countries,
such as Brazil, the diagnostic suspicion of most cases occurs
at birth, and parents on receiving the news often react with
shock, negation, guilt and anger. They rarely report this time
as a positive experience (Skotko 2005). Varied professionals
may have the primary responsibility of informing parents
about a diagnosis of DS in different cultures and after this
they are either referred for or seek GC. Generally when the
parents first meet with the geneticist or geneticcounselor
they are eager for information about the different aspects of
DS (Girisha et al. 2007).
Faced with the psychological effects that the diagnosis of
DS can cause for families, GC is an alternative to minimize
the disorganizing impact of these effects and preserve the
mental health of parents and other relatives (Brasington
2007). The counselor can also help parents to reflect on the
experience of shock that they felt at the time of the commu-
nication of the diagnostic suspicion. The distress caused by
the situation must be addressed during GC because it may
reduce the quality of life of patients and their families and
negatively affect the realization of the child’s treatment
(Evans 2006; Micheletto et al. 2009). In this context, the
participation of a psychologist in the interdisciplinary GC
786 Micheletto, Valerio and Fett-Conte
team is very important (Fett-Conte 2011). However, the
impact of GC, as provided in Brazil, on mothers of children
with DS is unknown.
Purpose of the Present Study
This article provides information on a model of service
delivery of GC practiced in Brazil and presents the results
of a pilot study of the satisfaction of mothers of children with
DS with this model, their knowledge about DS after two
sessions of GC and whether GC results in a feeling of well-
being and psychological support for this population.
Method
This work was approved by the Research Ethics Committee
of theMedicine School in São José do Rio Preto (FAMERP –
protocol # 125/2005). Each participant was informed of the
objectives of the research and signed a written consent form.
This pilot study was carried out in the Service of Clinical
Genetics of Hospital de Base (FAMERP-FUNFARME) a
large teaching hospital, located within the State of Sao
Paulo, Brazil, where GC is available to all the population
of the city and region even though this is a low-income
country. The city is located 454 Km from São Paulo city
and has 408,000 inhabitants. Counseling is provided free of
charge through the public healthcare system with most fam-
ilies being referred by physicians. Patients with various types
of problems are attended, including intellectual disabilities,
multiple or isolated birth defects, infertility, consanguineous
marriages, advanced parental age and postnatal or prenatal
diagnosis of genetic conditions. A total of about 80 cases are
seen per month.
The Clinical Genetics service is an interdisciplinary team
comprised of three counselors (biologists with master and
doctorate degrees in clinical genetics), three psychologists
(PhD), physicians (pediatrician, infant neurologist and car-
diologist), one social worker and two nurses. One of the GC
model’s characteristics is that the genetic counselor and
psychologist work together during the counseling sessions
of families.
The GC sessions of this study lasted about 60 min. A
discussion of the etiology, clinical manifestations, recurrence
risks, possibility of better social adjustment and early inter-
vention of children was considered essential. Parents also
had multiple opportunities to ask questions. Information was
given in detail, with vocabulary appropriate to the cultural
level of the family and printed material (booklets prepared by
the team) according to the needs of each family. In each
session, the psychological support given by staff was con-
sidered indispensable in order to establish rapport and
empathy with the parents. This approach is based on the
principles of the cognitive behavioral model of health psychol-
ogy (Miyazaki et al. 2002; Rimes et al. 2006; American
Psychological Association 2011) namely the identification of
needs, providing sufficient and appropriate information and
strategies to manage the client’s emotions, thereby helping to
improve the quality of their lives, in the broad sense. The
psychological support provided also aimed to encourage posi-
tive attitudes to coping, clear and open communication, detect
stress, increase self-control and sense of hope, develop social
skills and facilitate integration with community services (non-
governmental organizations, support groups, health centers etc.)
The GC offered to our study population included general
information on DS and psychological support. Most patients
come to confirm the diagnostic suspicion and to receive all
the necessary information.
The GC Process
1) Reception of counselee.While waiting for the interview in
a waiting room, counselees are approached by a staff
psychologist, who presents himself, notes the patient’s
and/or family name, establishes a rapport (contact, dia-
logue) and investigates the characteristics of the case and
the needs of those concerned. He sits in front of the family,
begins the conversation and makes an observation about
the emotional state of counselees (fear, anger, sadness,
anxiety etc.), the main coping strategies (emotional, cog-
nitive and behavioral), psychological functions (orienta-
tion, sensation, perception, judging, memory, attention,
reasoning, language, mood, level of understanding etc.)
and irrational beliefs. The psychologist also informs and
gives guidance on the practical operation, structure and
dynamics of GC. During the psychological approach, the
emotional and irrational beliefs are investigated to promote
a more relaxed meeting with the genetic counselor.
2) Conference between psychologist and counselor. Before
meeting the patient/family, the psychologist provides the
previously gathered information to the counselor with
the aim of a more personalized and targeted approach.
3) Meeting of the client with the genetic counselor and
psychologist. On being called for counseling, the psychol-
ogist who established the initial rapport with the family in
the waiting room, introduces the family members to the
counselor, enters the room and participates in the GC pro-
cess. Everyone sits in a circle, with the small table of the
interview room moved to the side and just used for the
counselor’s note taking. A central table is considered by
the team an obstacle to establishing a relationship as it may
suggest a difference in level/hierarchy which can cause
awkwardness. The psychologist accompanies the discus-
sion, observes and only briefly and objectively intervenes
on psychological aspects when requested or when he
Effects of a Genetic Counseling Model 787
believes it is absolutely necessary. It is up to the counselor to
give psychological support inherent to the process. It is
always important to motivate the family to return for follow
up consultations in all the clinics, to perform complementary
exams, and to start early intervention, as well as to offer the
client support in respect to the most urgent difficulties, such
as contacting a social assistant and professionals/support
institutions. When necessary, the members of the family
are referred for a more detailed psychological assessment
or for psychotherapy.
4) Team meeting. At the end of the sessions of the day, all
the team members meet to discuss the cases. It is an
opportunity to exchange experiences and receive feed-
back from the team itself. Team members talk about any
difficulties that arose, the emotions experienced, the
strategies used and expected results.
A second session of GC, for those cases that warrant a
follow up (as is the case for all families involving DS), is
performed after about 30 days in order to reinforce the
information given, to clarify remaining questions and to
give emotional support. The family meets with the same
professionals as in the first session to maintain and
strengthen the bond between them.
Study Procedure
Mothers were requested to participate in the study personally by
a psychologist who is a member of the Clinical Genetics service
but who did not participate in the GC sessions. This professional
again met the mothers in a privateroom only for the research
interview, immediately following the second GC session.
Open-ended questions were transcribed by the interviewing
psychologist who wrote down the responses during the inter-
view and the illustrative quotes of mothers used in this publica-
tion were translated by an experienced translator. For the closed
questions, the responses of the mothers were marked, counted
and compared to the total sum of responses given for the
question.
Participants
During the study period (August to December 2008) 41 new
cases of DS were treated and 31 mothers were invited to
participate based on eligibility criteria. One of the 31 mothers
refused to participate.
The study group included 30 mothers who met the follow
criteria: aged 18 years or older with under six-month old
children with DS without additional medical problems (e.g.
severe congenital heart defects, gastrointestinal abnormali-
ties, extreme prematurity, etc.) who attended two GC ses-
sions. They were invited to participate in order of arrival in
the Clinical Genetics Service.
The mean age of the mothers was 29.9 years old and of the
children it was 3.7 months. The majority of mothers had few
years of schooling (X=9.2; SD=4.21), i.e., had not completed
basic education that ensures joint training indispensable for the
exercise of citizenship and ways for to progress at work and in
other studies (Brasil 1996). For 90 % the family income was
<$ U 1000.00/months, low economic level (X=577.7/months,
SD=598.15), as the parameters of the Brazilian Association of
Research Companies (www.abep.org).
Instrumentation
A semi-structured interviewwas constructed by the researchers
to elicit demographic and socioeconomic information. The
interview also asked about the participants’ experience of GC
and knowledge of DS. A single phrase was used to assess the
client’s satisfaction with the model of GC and respondents
were asked to assign values of 1 to 5 using a Likert scale: I
hated it (1), I did not like it (2), It made no difference (3), I liked
it (4), or I loved it (5).
Open-ended questions were used to evaluate the emotional
effects of GC and the knowledge assimilated about DS: “What
can you tell me about the GC process?”; “How do you feel after
two sessions of GC?”; “Can you explain tomewhat DS is?” and
“Did your level of knowledge about DS improve after GC?”
Analysis
The level of client’s satisfaction with the model of GC was
considered high when the mean score was higher than four (>4).
The analysis of the open-ended questions was made by
three geneticists, who independently evaluated the questions
on DS. Also, three psychologists independently evaluated the
questions about possible emotional effects of GC. All these
professionals have PhD degrees and here are denominated
either “genetics raters” or “psychological raters”. Each rater
was asked to make an interpretation of the answers to open
questions based on their professional experience and classify
the responses according to the categories listed above.
The knowledge about DS assimilated by the mothers was
classified by genetics raters as “vague” or “satisfactory”. The
effects of GC were interpreted by psychological raters as
“beneficial”, “perturbing” or “indeterminate” (when was not
possible to classify the effect as beneficial or perturbing).
The psychological raters also classified the psychotherapeu-
tic support as “present” or “absent” (when there was no
evidence in the response that the mother felt this type of
support was present).
The assessments of all raters were considered in the final
interpretation of the responses based on the indices of agree-
ment between them. The indices of agreement (IA) were
calculated according to the following formula:
788 Micheletto, Valerio and Fett-Conte
IA ¼ A total agreementsð Þ
Aþ D totaldisagreementsð Þ � 100
It was stipulated that, to accept the category of a response
(considered “valid”), the minimum level of agreement
among raters would be 70 %. They were asked to interpret
the responses based on criteria such as objectivity, clarity,
accuracy and credibility (Pasquali 2000).
Analysis of the data was descriptive and based on abso-
lute values and percentages.
Results
Satisfaction with the Model of Service Delivery of GC
The level of satisfaction with GC according to the Likert
scale varied between 3 and 5. Twenty-six mothers (86.7 %)
reported “I loved it”, two (6.7 %) reported “I liked it” and
two (6.7 %) stated “It made no difference”. The mean score
obtained for this question was 4.8. This value was interpreted
as high client satisfaction with the model of service delivery
of GC practiced in Brazil.
Knowledge About DS After Two Sessions of GC
Using an index of agreement of 70 % among raters, 18
responses that assessed the knowledge mothers had assimi-
lated about DS was considered appropriate “Satisfactory
knowledge” was observed in 44.4 % (8), while 55.6 % (10)
demonstrated “vague knowledge”.
Some excerpts of examples of responses considered “sat-
isfactory knowledge” follow:
– Mother 8 - “Down syndrome corresponds to trisomy 21.
A change in the pair of chromosome 21 that occurs at
fertilization…”
– Mother 21 - “It’s an alteration, a genetic “accident” that
causes external and internal changes of the body. It
slows the development, but if the child is stimulated,
close to normality can be achieved. The result depends
a lot on stimulation, not only on genetics…”
– Mother 24 - “DS is a genetic problem, where the cells do
not divide the chromosomes as they should. You have to
stimulate the baby to have an adequate development for
them to enter in society equal or similar to other chil-
dren, as the difference will always exist…”
Some examples of responses considered “vague knowledge”:
– Mother 10 – “I think it’s a slower development. Everything
is slower. This is what I think…”
– Mother 11 – “I do not know. The people say that it is a
child that we have to be more careful. To know how to give
the baby bottle very well. Take good care. Talk to her…”
– Mother 12 – “For me… I didn’t try to find out about it, but
it always scared me… The characteristics… I thought the
child was a fool. Now I know they talk.... In K… a girl
always sat by my side… and I was pregnant. I was scared
for my baby. Today, for me, it is normal. I don’t see her as
different. If I see one, I talk normally.”
When asked if GC improved their knowledge about DS,
100 % (30) of the mothers gave affirmative replies.
Feeling of Well-Being and Psychological Support
When asked to consider the effect of the GC process on
feelings of well-being, no replies were rated as indicating a
“perturbing effect”. The psychological raters classified 97.6%
of the replies as “beneficial” and 3.3 % of the replies as
“indeterminate”, as exemplified by the following responses:
– “beneficial effect”- Mother 5 - “It was pretty good.
Worthwhile. It was through counseling that we have
more information. We received the confirmation that
we couldn’t see. Received support, the confirmation,
what it is, how it will be, what has to be done. Already
in the waiting room I became more appreciative…”
– “beneficial effect”- Mother 11 - “It was good to talk and
to find out more about the problem. I became calmer and
self confident after having talked. I am happier. In the
beginning everyone is terrified...”
– “beneficial effect”- Mother 14 - “I guess it was good. It
explained many things of which we had doubts. You
think it is something from another world and discover
that it is not, that you can help. The explanations were
very good, both for me and for my child. I will be able to
help my child better…”
– “indeterminate effect” – Mother 13 - “I don’t know… I
don’t know how to explain what I am feeling.”
The psychological raters classified psychotherapeutic
support as being “present”in 29 (96.7 %) of the replies and
“absent” in one response (3.3 %), as in these examples:
– Mother 4 - “It helped. When I found out; I understood
nothing. Each person said one different thing… The
professionals that understand about the subject helped
to explain. When you are in doubt you ‘lose your foot-
ing’. I learnt that I should give much attention and love.
It [GC] cleared up my doubts and comforted me…”
– Mother 17 - “Yes. Sure. It helped me, because that
feeling of rejection is over. That’s been bothering me.
The feeling of rejection… And that knowledge opened
my eyes and the feeling bad, the guilt, are passing...”
Effects of a Genetic Counseling Model 789
– Mother 28 - “Yes. I think it is because of the patience that
you have when giving all the explanations, the manner
you attend us with affection, respect and education. This
helps a lot...”
Absent support was identified in one response, that is,
3.3 % (1):
– Mother 3 - “No. I think it was very vague… I think that it
is not like that. You know that there will be limitations and
you must stimulate. I do not know if it was because of the
time of the karyotyping that it shocks… perhaps when I
return, then they will say more things about this…”
Discussion
The communication of unexpected or feared news, as in the
case of GC for DS, is difficult (Dent and Carey 2006; Edwards
et al. 2008). In this process, the relationship with the patient is
fundamental for a good quality of service to be provided (Mast
2007; Sheets et al. 2011a; Sheets et al. 2011b). Furthermore,
retention of information transmitted, a correct perception of
the risks, an increase in the knowledge about the condition and
a reduction in the anxiety and guilt of clients are some of the
effects expected from an effective GC process (DeMarco et al.
2004; Fett-Conte 2011).
The value of conducting an investigation into the effective-
ness of counseling services is well recognized in the literature.
Periodic evaluations of GC services are useful to determine the
effectiveness of counseling in meeting its psychoeducational
aims, as well as identifying where improvements to the service
may be made (Davey et al. 2005). But, in GC, the measurement
of satisfaction and the success of this complex activity is a
challenge. This involves several barriers such as the definition
of a construct of satisfaction and an appropriate methodology
(Kasparian et al. 2007). In the absence of adequate tools, a
transcription of interviews and the presentation of excerpts of
the report of the interviewee may contribute to the understand-
ing of behavioral and relational phenomena present in GC, as
was the option used in this article.
In this study, satisfaction with the GC received by mothers
was high. They responded that they learned more about DS
and that they adapted better to the circumstances imposed by
the condition. This is compatible with what is expected from
GC and is related to its objective of helping clients adapt to
the consequences of the condition (Brasington 2007; Sheets
et al. 2011a).
The majority of published research studies on client sat-
isfaction with GC have focussed on consultations for specific
conditions such as cancer, hereditary anemia and human
reproduction. From this literature, it appears that client sat-
isfaction is highly independent of the cultural context
(DeMarco et al. 2004; Aalfs et al. 2006; Roshanai et al.
2009; Glasspool et al. 2010; Peters and Petrill 2011; Sheets
et al. 2011b; Halbert et al. 2012; Sie et al. 2012). Notably, no
research reports on client satisfaction after genetic counsel-
ing for Down syndrome were identified.
Collins et al. (2001) conducted semi-structured interviews
with parents of four children born with cystic fibrosis and ten
with DS to ascertain reasons for using or not using GC services
in the state of Victoria, Australia. All mothers of children with
cystic fibrosis saw the genetic counselor as part of a structured
education protocol following diagnosis through newborn
screening. But there was no specific protocol for families of
children with DS. Six of them had received GC and four had
not, either because GC was not specifically offered to them or
because they did not pursue counseling due to misconceptions
about its purpose. Skotko et al. (2011) investigated American
parents who had children with DS about how they felt about
their lives so that the information could be shared with expec-
tant couples during prenatal counseling sessions. Of the 2,044
respondents, 99% reported that they love their son or daughter;
97 % were proud of them; 79 % felt their outlook on life was
more positive because of them; 5 % felt embarrassed by their
child and 4 % regretted having the child. However, the effects
of GC were not investigated.
The high satisfaction level reported in our results reflects
well-established counselor-counselee relations in most cases,
which is compatible with good quality GC. The relationship
established between the counselor and the counselee is a
fundamental aspect for changes in the beliefs and behavior
towards adaptation and the resilience of clients (Davey et al.
2005; Kasparian et al. 2007; Smets et al. 2007; Ellington et al.
2011; McAllister et al. 2011). The relationship is not always
well established as was observed by Reimond et al. (2003)
who reported dissatisfaction among parents with the quality of
information received about DS in the Republic of Estonia and
concluded that the medical team needs to learn how to break
“difficult” news and provide psychological support to fami-
lies. A similar perspective was reported by Muggli et al.
(2009) who highlighted among other factors, the style of
communication of the professional at the time of breaking
the news as a predictor of parental adaptation.
Even though all the mothers of the current study had
reported that GC improved their level of knowledge about
DS, only approximately half of the participants (44 %) gave
satisfactory responses about the subject. Previous studies have
shown that the assimilation of the information transmitted in
GC seems to vary over time and according to pre-existent
characteristics at the birth of the child, such as the capacity of
intellectual comprehension, the level of activation of the psy-
chological process such as negation, guilt and anxiety, and the
style of coping (Evans 2006; Cabrera et al. 2010).
Knowledge about the condition has a number of advan-
tages for the family, such as an increase in the capacity to
790 Micheletto, Valerio and Fett-Conte
utilize the support network (Matos 2001; Shiloh 2006), which
is considered a problem-solving resource and is among the
variables associated with family adaptation and resilience
(Van Riper 2007). It is important to note, however, that clients
differ in the type of information that they find relevant and
genetic counselors should evaluate needs and determine what
information is most appropriate to communicate (Peters and
Petrill 2011; Sheets et al. 2011b).
The majority of mothers had few years of schooling and
low economic levels, typical of the population consulted in the
institution of the study and this may have influenced the
comprehension of information, even with much effort by the
counselor to speak at a level that is understandable to the
client. Additionally, as the technical information is diverse
and the mothers are in a very delicate state with many still in
shock, they may not assimilate the details well. Despite ad-
dressing all their doubts on the clinical condition, necessary
tests, etiology, etc., the information may not be retained as was
shown in this study. Possibly, information overload in such a
short period of time and the emotional changes make compre-
hension difficult. Thus, two sessions of GC may not be
enough for the mothers to assimilate information about the
condition. Hence, othersessions of GC, psychoeducative
group activities and the offer of illustrative material for clients
might be useful for the retention of knowledge (Meiser et al.
2008; Sheets et al. 2011b). In further sessions of GC, the
information can be reinforced and mothers can be encouraged
to realize their child’s treatment and attend support groups.
The emotional experience of GC may be considered as
important as the knowledge assimilated (Ellington et al. 2011;
Sheets et al. 2011a). Our Brazilian service delivery model for
GC aims to provide due attention and psychological support.
Beneficial effects for clients were observed in this study by the
analysis of the reports of the majority of the mothers. This
becomes clear with some statements like “It was pretty good…
Already in the waiting room I became more appreciative
…”and “I became self confident and calmer after having talked.
I am happier. In the beginning everyone is terrified … ”
Emotional support is as important as promoting the reten-
tion of technical information about the genetic problem. GC
includes some attitudes classified as essential for psycho-
therapeutic relationships, such as empathic comprehension,
congruence and positive considerations on the part of the
professional (McCarthy-Veach et al. 2007). In our study, GC
attempted to give “psychotherapeutic support” discussing
the aversive contingencies and reinforcing the positive ones
as proposed by Edwards et al. (2006).
Implications for Practice and Training
This study provides information about a model of service
delivery of GC practiced in Brazil that can be incorporated in
other genetic services of the country. Additionally, the study
provides some preliminary results that can lead to reflections
about other existing models, identifying processes that are
particularly beneficial for facilitating cultural adjustment.
Further research exploring this model involving conditions
other than DS would be useful to substantiate and extend
what has been found here. We suggest that psychologists
have direct participation in the process of GC, especially in
countries like Brazil, where genetic counselors do not nec-
essarily have training in the provision of psychotherapeutic
support, in order to help the counselor process emotional and
cognitive phenomena relevant to the context.
Study Limitations
One of limitations of this study is the small sample size. The
trends identified in the analyses may be supported with a
larger sample. Additionally, the primary focus of the study
was to present a Brazilian model of service delivery of GC
rather than to investigate the counseling process itself. This
focus has meant that, whilst the results indicate that the
model is good, the data yields only limited suggestions for
improvements to service provision. It would be very positive
to evaluate outcomes of GC using an instrument developed
or validated in the Brazilian context, but in its absence, we
chose a semi-structured interview using open questions.
Our results are also limited due to the lack of diversity of
respondents. The majority of mothers had few years of
schooling and low economic levels and thus they are from
working-class families. The demographic characteristics of
the study participants reflect the population that is treated in
the institution of this study. The selection of only mothers of
children without additional medical problems (higher func-
tioning cases of DS) is not representative of all parents who
have a child with DS. But we took care to invite the cases
without clinical disorders because this could introduce a bias
to the data given the emotional implications linked to other
parental concerns such as child survival.
The use of broad questions versus targeted questions may
have under-represented knowledge retained by the partici-
pants. The former are easier to evaluate and can direct re-
sponses. The open and reflective questions enable psychic
phenomena to manifest better than when the questions are
directed toward specific issues. The ideal strategy might be to
use an instrument with both types of evaluations to more
accurately assess knowledge. Moreover, the timing of the
research interview was on the same day soon after the second
GC session. Some mothers had received the result of
karyotyping during this second appointment. For this reason
the objectives of the research was always explained to them
and they were asked if they wanted to and felt able to
Effects of a Genetic Counseling Model 791
participate. Even so, some mothers might have been so shaken
that they were unable to answer the questions properly.
Additionally, even though not involved in the partici-
pants’ clinical care, the fact that a psychologist interviewed
the mothers may have made them feel they should respond
favorably about their GC experience. An anonymous self-
report questionnaire would have avoided this potential bias.
Further studies are needed with larger sample sizes, a
more varied group of parents and a more rigorous design.
Conclusions
Based on these modest, preliminary findings, the Brazilian
model of service delivery of GC seems to result in a high rate
of satisfaction that promotes a feeling of well-being and psy-
chological support in mothers of children with high functioning
DS who have attended two GC appointments. Further research
should evaluate the potential benefits of offering GC to this
population in more than two sessions considering the complex-
ity of the information to be conveyed in the context of a dynamic
and emotional process of adaptation to a new diagnosis.
Acknowledgments The authors wish to thank the expert raters and
the mothers who participated in the study for their collaboration.
Conflict of Interest None
References
Aalfs, C. M., Oort, F. J., de Haes, H. C. J. M., Leschot, N. J., & Smets, E.
M. A. (2006). Counselor–counselee interaction in reproductive ge-
netic counseling: does a pregnancy in the counselee make a differ-
ence? Patient Education and Counseling, 60, 80–90. doi:10.1016/
j.pec.2005.03.007.
Abad, P. J. (2012). Explanatory models of illness may facilitate cultural
competence in genetic counseling. Journal of Genetic Counseling,
21(4), 612–614. doi:10.1007/s10897-012-9487-9.
Albada, A., Werrett, J., Van Dulmen, S., Bensing, J. M., Chapman, C.,
Ausems, M. G., & Metcalfe, A. (2011). Breast cancer genetic
counselling referrals: how comparable are the findings between
the UK and the Netherlands? Journal of Community Genetics,
2(4), 233–247. doi:10.1007/s12687-011-0061-1.
Alsulaiman, A., Hewison, J., Abu-Amero, K. K., Ahmed, S., Green, J.
M., & Hirst, J. (2012). Attitudes to prenatal diagnosis and termi-
nation of pregnancy for 30 conditions among women in Saudi
Arabia and the UK. Prenatal Diagnosis, 32(11), 1109–1113.
doi:10.1002/pd.3967.
American Psychological Association. (2011). Guidelines for psycho-
logical practice in health care delivery systems. Retrieved from
http://www.apa.org/about/policy/hospital-privileges.pdf.
Apicella, C., Peacock, S. J., Andrews, L., Tucker, K., Bankier, A., Daly,
M. B., & Hopper, J. L. (2006). Determinants of preferences for
genetic counselling in Jewish women. Family Cancer, 5(2), 159–
167. doi:10.1007/s10689-005-3871-7.
Arilha, M. M. (2012). Misoprostol: pathways, mediation and social
networks for access to abortion using medication in the context
of illegality in the State of Sao Paulo. Ciência & Saúde Coletiva,
17(7), 1785–1794. doi:10.1590/S1413-81232012000700017.
Brazilian Association of Research Companies. Retrieved from http://
abep.org.br.
Balcom, J. R., Veach, P. M., Bemmels, H., Redlinger-Grosse, K., &
Leroy, B. S. (2012). When the topic is you: genetic counselor
responses to prenatal patients’ requests for self-disclosure.
Journal of Genetics Counseling. doi:10.1007/s10897-012-9554-2.
Barragan, D. I., Ormond, K. E.,Strecker, M. N., & Weil, J. (2011).
Concurrent use of cultural health practices and Western medicine
during pregnancy: exploring the Mexican experience in the United
States. Journal of Genetic Counseling, 20(6), 609–624. doi:10.1007/
s10897-011-9387-4.
Battista, R. N., Blancquaert, I., Laberge, A. M., van Schendel, N., &
Leduc, N. (2012). Genetics in health care: an overview of current
and emerging models. Public Health Genomics, 15(1), 34–45.
doi:10.1159/000328846.
Biesecker, B. B. (2001). Goals of genetic counseling. Clinical Genetic,
60(5), 323–330. doi:10.1034/j.1399-0004.2001.600501.x.
Black, R. B., & Weiss, J. O. (1989). Genetic support groups in the delivery
of comprehensive genetic services. American Journal HumanGenetic,
45(4), 647–654. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/
articles/PMC1683501/.
Braitman, A., & Antley, R. M. (1978). Development of instruments to
measure counselees’ knowledge of Down syndrome. Clinical
Genetic, 13(1), 25–36. doi:10.1111/j.1399-0004.1978.tb04126.x.
Brasil. (1996). Lei de Diretrizes e Bases da Educação. Lei nº 9.394 de
20 de Dezembro de 1996. Artigo 21 e 22. Retrieved from http://
www.planalto.gov.br/ccivil_03/leis/L9394.htm.
Brasington, C. K. (2007). What I wish I knew then… reflections from
personal experiences in counseling about Down syndrome. Journal of
Genetic Counseling, 16(6), 731–734. doi:10.1007/s10897-007-9116-1.
Cabrera, E., Blanco, I., Yagüe, C., & Zabalequi, A. (2010). The
impact of genetic counseling on knowledge and emotional
responses in Spanish population with family history of breast
câncer. Patient Education and Counseling, 79(3), 382–388.
doi:10.1016/j.pec.2009.10.032.
Chasen, S. T., & Kalish, R. B. (2013). Can early ultrasound reduce the
gestational age at abortion for fetal anomalies? Contraception,
87(1), 63–66. doi:10.1016/j.contraception.2012.09.014.
Chkioua, L., Khedhiri, S., Ben Turkia, H., Chahed, H., Ferchichi, S.,
Ben Dridi, M. F., Laradi, S., & Miled, A. (2011). Hurler disease
(mucopolysaccharidosis type IH): clinical features and consan-
guinity in Tunisian population. Diagnostic Pathology, 10(6),
113. doi:10.1186/1746-1596-6-113.
Cohen, S. A., Gustafson, S. L.,Marvin,M. L., Riley, B. D., Uhlmann,W. R.,
Liebers, S. B., & Rousseau, J. A. (2012). Report from the National
Society of Genetic Counselors service delivery model task force: a
proposal to define models, components, and modes of referral. Journal
of Genetic Counseling, 21(5), 645–651. doi:10.1007/s10897-012-
9505-y.
Collins, V., Halliday, J., &Williamson, R. (2001). What predicts the use
of genetic counseling services after the birth of a child with Down
syndrome? Journal of Genetic Counseling, 12(1), 43–60.
doi:10.1023/A:1021495117739.
Collins, V., Halliday, J., Kahler, S., & Williamson, R. (2003). Parents’
experiences with genetic counseling after the birth of a baby with a
genetic disorder: an exploratory study. Journal of Genetic
Counseling, 10(1), 53–72.
Corrêa, M. C. D., & Guilam, M. C. (2006). O discurso do risco e o
aconselhamento genético. Cadernos de Saúde Pública, 22(10), 1–
11. doi:10.1590/S0102-311X2006001000020.
Davey, A., Rostant, K., Harrop, K., Goldblatt, J., & O’Leary, P. (2005).
Evaluating genetic counseling: client expectations, psychological
adjustment and satisfaction with service. Journal of Genetic
Counseling, 14(3), 197–206. doi:10.1007/s10897-005-0519-6.
792 Micheletto, Valerio and Fett-Conte
DeMarco, T., Peshkin, B. N., Mars, B. D., & Tercyak, K. P. (2004).
Patient satisfaction with cancer genetic counseling: a psychometric
analysis of the genetic counseling satisfaction scale. Journal of
Genetic Counseling, 13(4), 293–304.
Dent, K. M., & Carey, J. C. (2006). Breaking difficult news in a newborn
setting: Down syndrome as a paradigm. American Journal Medical
Genetic, 142C(3), 173–179. doi:10.1002/ajmg.c.30100.
Diniz, D. (2011). Conscientious objection and abortion: rights and
duties of public sector physicians. Revista de Saúde Pública,
45(5), 981–985. doi:10.1590/S0034-89102011005000047.
Edwards, N., Peterson, W. E., & Davies, B. L. (2006). Evaluation of a
multiple component intervention to support the implementation of a
‘Therapeutic Relationships’ best practice guideline on nurses’ com-
munication skills. Patient Education and Counseling, 63(1–2), 3–
11. doi:10.1016/j.pec.2006.07.008.
Edwards, A., Gray, J., Clarke, A., Dundon, J., Elwyn, G., Gaff, C., et al.
(2008). Interventions to improve risk communication in clinical
genetics: systematic review. Patient Education and Counseling,
71(1), 4–25. doi:10.1016/j.pec.2007.11.026.
Ellington, L., Kelly, K. M., Reblin, M., Latimer, S., & Roter, D. (2011).
Communication in genetic counseling: cognitive and emotional
processing. Health Communication, 26(7), 667–675. doi:10.1080/
10410236.2011.561921.
Elwyn, G., Gray, J., & Clarke, A. (2000). Shared decision making and
non-directiveness in genetic counselling. Journal of Medical
Genetic, 37(2000), 135–138. doi:10.1136/jmg.37.2.135.
Elwyn, G., Edwards, A., Iredale, R., Davies, P., & Gray, J. (2005).
Identifying future models for delivering genetic services: a nom-
inal group study in primary care. Biomedcentral Family Practice,
6(1), 14. doi:10.1186/1471-2296-6-14.
Evans, C. (2006). Genetic counseling: a psychological approach.
Cambridge: Cambridge University Press.
Fett-Conte, A. G. (2011). Genetic counseling in autistic phenotypes,
autism spectrum disorders: the role of genetics in diagnosis and
treatment, Stephen Deutsch (Ed.), ISBN: 978-953-307-495-5, In
Tech. Retrieved from http://www.intechopen.com/articles/show/
title/genetic-counseling-in-autistic-phenotypes.
Fransen, M. P., Essink-Bot, M. L., Oenema, A., Mackenbach, J. P.,
Steegers, E. A., & Wildschut, H. I. (2007). Ethnic differences in
determinants of participation and non-participation in prenatal
screening for Down syndrome: a theoretical framework. Prenatal
Diagnosis, 27(10), 938–950. doi:10.1002/pd.1805.
Fransen, M. P., Schoonen, M. H., Mackenbach, J. P., Steegers, E. A., de
Koning, H. J., Laudy, J. A., Galjaard, R. J., Looman, C. W.,
Essink-Bot, M. L., & Wildschut, H. I. (2010). Ethnic differences
in participation in prenatal screening for Down syndrome: a
register-based study. Prenatal Diagnosis, 30(10), 988–994.
doi:10.1002/pd.2603.
Gardiner, K., Herault, Y., Lott, I. T., Antonarakis, S. E., Reeves, R. H.,
& Dierssen, M. (2010). Down syndrome: from understanding the
neurobiology to therapy. Journal of Neuroscience, 30(45), 14943–
14945. doi:10.1523/JNEUROSCI.3728-10.2010.
Girisha, K. M., Sharda, S. V., & Phadke, S. R. (2007). Issues in counsel-
ing for Down syndrome. Indian Pediatrics, 44(2), 131–133.
Glasspool, D. W., Oettinger, A., Braithwaite, D., & Fox, J. (2010). Fox
interactive decision support for risk management: a qualitative eval-
uation in cancer genetic counselling sessions. Journal of Cancer
Education, 25(3), 312–316. doi:10.1007/s13187-009-0035-8.
Guilam, M. C. R., & Corrêa, M. C. D. V. (2007). Risk, medicine and
women: a case study on prenatal genetic counseling in Brazil.
Developing World Bioethics, 7(2), 78–85. doi:10.1111/j.1471-
8847.2007.00103.x.
Halbert, C. H., Kessler, L., Collier, A., Weathers, B., Stopfer, J.,
Domchek, S., & McDonald, J. A. (2012). Low rates of African
American participation in genetic counseling and testing for
BRCA1/2 mutations: racial disparities or just a difference?
Journal of Genetic Counseling, 21(5), 676–683. doi:10.1007/
s10897-012-9485-y.
Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S.,
Romeo, G., Kate, L. P., Bennett, R. L., Shaw, A., Megarbane, A.,
van Duijn, C., Bathija, H., Fokstuen, S., Engel, E., Zlotogora, J.,
Dermitzakis, E., Bottani, A., Dahoun, S., Morris, M. A., Arsenault,
S., Aglan,M. S., Ajaz,M., Alkalamchi, A., Alnaqeb, D., Alwasiyah,M. K., Anwer, N., Awwad, R., Bonnefin, M., Corry, P., Gwanmesia,
L., Karbani, G. A., Mostafavi, M., Pippucci, T., Ranza-Boscardini,
E., Reversade, B., Sharif, S. M., Teeuw, M. E., & Bittles, A. H.
(2011). Consanguineous marriages, pearls and perils: Geneva
International Consanguinity Workshop Report. Genetic Medical,
13(9), 841–847. doi:10.1097/GIM.0b013e318217477f.
Instituto Brasileiro de Geografia e Estatística. (2011). Censo 2010.
Retrieved from http://www.censo2010.ibge.gov.br/.
Instituto Data Folha, & Garcia, L. (2007). Governo Lula assina
documento oficial comprometendo-se a rever legislação do aborto.
Instituto Data Folha. http://datafolha.folha.uol.com.br/po/ver_
po.php?session=508. Accessed 10 April 2011.
Jonassaint, C. R., Santos, E. R., Glover, C. M., Payne, P. W., Fasaye, G.
A., Oji-Njideka, N., Hooker, S., Hernandez, W., Foster, M. W.,
Kittles, R. A., & Royal, C. D. (2010). Regional differences in
awareness and attitudes regarding genetic testing for disease risk
and ancestry. Human Genetics, 128(3), 249–260. doi:10.1007/
s00439-010-0845-0.
Kasparian, N. A., Wakefield, C. E., &Meiser, B. (2007). Assessment of
psychosocial outcomes in genetic counseling research: an over-
view of available measurement scales. Journal of Genetic
Counseling, 16(6), 693–712. doi:10.1007/s10897-007-9111-6.
Kastner, T. A. (2004). Managed care and children with special health care
needs. Pediatrics, 114(6), 1693–1698. doi:10.1542/peds.2004-2148.
Kessler, S. (2001). Psychological aspects of genetic counseling. XIV.
Nondirectiveness and counseling skills. Genetic Testing, 5(3),
187–191.
Mast, M. S. (2007). On the importance of nonverbal communication in
the physician–patient interaction. Patient Education and
Counseling, 67(3), 315–318. doi:10.1016/j.pec.2007.03.005.
Matos, M. A. (2001). Comportamento governado por regras. Revista
Brasileira de Terapia Comportamental e Cognitiva, 3(2), 51–66.
McAllister, M., Wood, A. M., Dunn, G., Shiloh, S., & Todd, C. (2011).
The genetic counseling outcome scale: a new patient reported
outcome measure for clinical genetic services. Clinical Genetic,
79(5), 413–424. doi:10.1111/l.1399-0004.2011.01636.x.
McCarthy-Veach, P., Bartels, D. M., & LeRoy, B. S. (2007). Coming full
circle: a reciprocal-engagement model of genetic counseling prac-
tice. Journal of Genetic Counseling, 16, 713–728. doi:10.1007/
s10897-007-9113-4.
Meiser, B., Irle, J., Lobb, E., & Barlow-Stewart, K. (2008). Assessment
of the content and process of genetic counseling: a critical review
of empirical studies. Journal of Genetic Counseling, 17(5), 434–
451. doi:10.1007/s10897-008-9173-0.
Micheletto, M. R. D., Amaral, V. L. A. R., Valerio, N. I., & Fett-Conte,
A. C. (2009). Adesão ao tratamento após aconselhamento genético
na síndrome de Down. Psicologia em Estudo, 14(3), 491–500.
doi:10.1590/S1413-73722009000300010.
Mikkelsen, E. M., Sunde, L., Johansen, C., & Johansen, S. P. (2009).
Psychosocial consequences of genetic counseling: a population-
based follow-up study. The Breast Journal, 15(1), 61–68.
doi:10.1111/j.1524-4741.2008.00672.x.
Miyazaki, M. C. O. S., Domingos, N. A. M., Valerio, N. I., Santos, A.
R. R., & Rosa, L. T. B. (2002). Psicologia da saúde: extensão de
serviços à comunidade, ensino e pesquisa. Psicologia USP, 13(1),
29–53. doi:10.1590/S0103-65642002000100003.
Mohanty, D., & Das, K. (2011). Genetic counselling in tribals in India.
The Indian Journal of Medical Research, 134, 561–571. Retrieved
from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237257/.
Effects of a Genetic Counseling Model 793
Monlleó, I. L., & Gil-da-Silva-Lopes, V. L. (2006). Brazil’s
Craniofacial Project: genetic evaluation and counseling in the
Reference Network for Craniofacial Treatment. The Cleft Palate-
Craniofacial Journal, 43(5), 577–579. doi:10.1597/04-203.
Muggli, E. E., Collins, V. R., & Marraffa, C. (2009). Going down a
different road: first support and information needs of families with
a baby with Down syndrome. Medical Journal of Autism, 190(2),
58–61. Retrivied from https://www.mja.com.au/sites/default/files/
issues/190_02_190109/mug10308_fm.pdf.
Muranjan,M. N., Budyal, S. R., Shah, H. R. (2012). Are Indian parents of
children with Down syndrome engaged in the blame game? Indian
Journal of Pediatrics, 19. doi:10.1007/s12098-012-0888-4.
Myers, M. F. (2011). Health care providers and direct-to-consumer
access and advertising of genetic testing in the United States.
Genome Medicine, 3(12), 81. doi:10.1186/gm297.
National Society of Genetic Counselors’ Definition Task Force, Resta,
R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E.,
Strecker, M. N., & Williams, J. L. (2006). A new definition of
Genetic Counseling: National Society of Genetic Counselors’
Task Force report. Journal of Genetic Counseling, 15(2), 77–83.
doi:10.1007/s10897-005-9014-3.
Oster-Granite, M. L., Parisi, M. A., Abbeduto, L., Berlin, D. S., Bodine,
C., Bynum, D., Capone, G., et al. (2011). Down syndrome: na-
tional conference on patient registries, research databases, and
biobanks. Molecular Genetics and Metabolism, 104(1–2), 13–
22. doi:10.1016/j.ymgme.2011.07.005.
Palmero, E. I., Ashton-Prolla, P., Rocha, J. C. C., Vargas, F. R., Kalakun,
L., Blom, M. B., Azevedo, S. J., et al. (2007). Clinical characteriza-
tion and risk profile of individuals seeking genetic counseling for
hereditary breast cancer in Brazil. Journal of Genetic Counseling,
16(3), 363–371. doi:10.1007/s10897-006-9073-0.
Pasquali, L. (2000). Princípios de elaboração de escalas psicológicas. In
C. Gorenstein, L. H. S. G. Andrade, & A. W. Zuardi (Eds.), Escalas
de Avaliação Clínica em Psiquiatria e Psicofarmacologia. São
Paulo: Lemos.
Peters, K. F., & Petrill, S. A. (2011). Development of a scale to assess the
background, needs, and expectations of genetic counseling clients.
American Journal of Medical Genetics. Parte A, 155A(4), 673–683.
doi:10.1002/ajmg.a.33610.
Phelps, C., Horrigan, D., Protheroe, L. K., Hopkin, J., Jones, W., &
Murray, A. (2008). “I wouldn’t classify myself as a patient”: the
importance of a “well-being” environment for individuals receiv-
ing counseling about familial cancer risk. Journal of Genetic
Counseling, 17(4), 394–405. doi:10.1007/s10897-008-9158-z.
Reimond, T., Uibo, O., Zordania, R., Palmiste, V., Ounap, K., & Tqlvik,
T. (2003). Parents’ satisfaction with medical and social assistance
provided to children with Down syndrome: experience in Estonia.
Community Genetics, 6(3), 166–170. doi:10.1159/000078164.
Rimes, K. A., Salkovskis, P. M., Jones, L., & Lucassen, A. M. (2006).
Applying a cognitive behavioral model of health anxiety in a cancer
genetics service. Health Psychology, 25(2), 171–180. doi:10.1037/
0278-6133.25.2.171.
Roinzen, N. J., & Patterson, D. (2003). Down’s syndrome. Lancet,
361(9365), 1281–12819. doi:10.1016/S0140-6736(03)12987.
Roshanai, A. H., Rosenquist, R., Lampic, C., & Nordin, K. (2009).
Cancer genetic counselees’ self-reported psychological distress,
changes in life, and adherence to recommended surveillance pro-
grams 3–7 years post counseling. Journal of Genetic Counseling,
18(2), 185–194. doi:10.1007/s10897-008-9203-y.
Sheets, K. B., Crissman, B. G., Feist, C. D., Sell, S. L., Johnson, L. R.,
Donahue, K. C., Masser-Frye, D., Brookshire, G. S., Carre, A. M.,
LaGrave, D., & Brasington, C. K. (2011a). Practice guidelines for
communicating a prenatal or postnatal diagnosis of Down syn-
drome: recommendations of the National Society of Genetic
Counselors. Journal of Genetic Counseling. doi:10.1007/s10897-
011-9375-8.
Sheets, K. B., Best, R. G., Brasington, C. K., & Will, M. C. (2011b).
Balanced information about Down syndrome: what is essential?
American Journal Medical Genetic, 155A(6), 1246–1257.
doi:10.1002/ajmg.a.34018.
Shiloh, S. (2006). Illnessrepresentations, self-regulation and genetic
counseling: a theoretical review. Journal of Genetic Counseling,
15(5), 325–337.
Sie, A. S., Spruijt, L., van Zelst-Stams, W. A. G., Mensenkamp, A. R.,
Ligtenberg, M. J., Brunner, H. G., Prins, J. B., & Hoogerbrugge,
N. (2012). DNA-testing for BRCA1/2 prior to genetic counselling
in patients with breast cancer: design of an intervention study,
DNA-direct. BMC Women’s Health, 12, 12. doi:10.1186/1472-
6874-12-12.
Skotko, B. (2005). Mothers of children with Down syndrome reflect on
their postnatal support. Pediatrics, 115(1), 64–77. doi:10.1542/
peds.2004-0928.
Skotko, B. G., Levine, S. P., & Goldstein, R. (2011). Having a son or
daughter with Down syndrome: perspectives from mothers and
fathers. American Journal Medical Genetic Part A, 155(10),
2335–2347. doi:10.1002/ajmg.a.34293.
Smets, E., van Zwieten, M., & Michie, S. (2007). Comparing genetic
counseling with non-genetic health care interactions: two of a
kind? Patient Education and Counseling, 68(3), 225–234.
doi:10.1016/j.pec.2007.05.015.
Springer, A., & Steele, M. W. (1980). Effects of physicians’ early
parental counseling on rearing of Down syndrome children.
American Journal of Mental Deficiency, 85(1), 1–5. Retrieved
from http://ww.ncbi.nlm.nih.gov/pubmed/6449867.
Strauss, B. S. (2009). Genetic counseling for thalassemia in the Islamic
Republic of Iran. Perspective Biological Medicine, 52(3), 364–
376. doi:10.1353/pbm.0.0093.
Sussner, K. M., Edwards, T. A., Thompson, H. S., Jandorf, L., Kwate,
N. O., Forman, A., Brown, K., Kapil-Pair, N., Bovbjerg, D. H.,
Schwartz, M. D., & Valdimarsdottir, H. B. (2011). Ethnic, racial
and cultural identity and perceived benefits and barriers related to
genetic testing for breast cancer among at-risk women of African
descent in New York City. Public Health Genomics, 14(6), 356–
370. doi:10.1159/000325263.
Tschudin, S., Huang, D., Mor-Gültekin, H., Alder, J., Bitzer, J., &
Tercanli, S. (2011). Prenatal counseling-implications of the cultur-
al background of pregnant women on information processing,
emotional response and acceptance. Ultraschall in der Medizin,
32(Suppl 2), E100–E107. doi:10.1055/s-0031-1281665.
Van Riper, M. (2007). Families of children with Down syndrome:
responding to “a change in plans” with resilience. Journal of
Pediatric Nursing, 22(2), 116–128. doi:10.1016/j.pedn.2006.07.004.
Veach, P. M., Truesdell, S. E., LeRoy, B. S., & Bartels, D. M. (1999).
Client perceptions of the impact of genetic counseling: an explor-
atory study. Journal of Genetic Counseling, 8(4), 191–216.
doi:10.1023/A:1022946431820.
Warren, N. S. (2011). Introduction to the special issue: toward diversity
and cultural competence in genetic counseling. Journal of Genetic
Counseling, 20(6), 543–546. doi:10.1007/s10897-011-9408-3.
Zatz, M. (2005). When science is not enough: fighting genetic
disease in Brazil. Science, 308(5718), 55–57. doi:10.1126/
science.1111730.
794 Micheletto, Valerio and Fett-Conte
	Effects of a Genetic Counseling Model on Mothers of Children with Down Syndrome: A Brazilian Pilot Study
	Abstract
	Introduction
	Purpose of the Present Study
	Method
	The GC Process
	Study Procedure
	Participants
	Instrumentation
	Analysis
	Results
	Satisfaction with the Model of Service Delivery of GC
	Knowledge About DS After Two Sessions of GC
	Feeling of Well-Being and Psychological Support
	Discussion
	Implications for Practice and Training
	Study Limitations
	Conclusions
	References