Open Journal of Genetics, 2013, 3, 270-279 OJGen
http://dx.doi.org/10.4236/ojgen.2013.34030 Published Online December 2013 (http://www.scirp.org/journal/ojgen/)
Predictive testing for two neurodegenerative disorders
(FAP and HD): A psychological point of view
Lêdo Susana1,2,3, Paneque Milena1,2, Rocha José3, Leite Ângela1,4,5, Sequeiros Jorge1,2
1Centre for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto, Portugal
2ICBAS, Universidade do Porto, Porto, Portugal
3UnIPSa, Centro de Investigação em Ciências da Saúde (CICS), Instituto Superior de Ciências da Saúde, CESPU, Paredes, Portugal
4Instituto Superior de Ciências Empresariais e do Turismo (ISCET), Porto, Portugal
5Universidade Lusófona do Porto (ULP), Porto, Portugal
Received 21 October 2013; revised 18 November 2013; accepted 5 December 2013
Copyright © 2013 Lêdo Susana et al. This is an open access article distributed under the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
ABSTRACT
In this retrospective study, we have researched the
psychological impact of pre-symptomatic testing ( P S T )
for 2 autosomal dominant late-onset diseases: Hunt-
ington disease (HD and familial amyloidotic poly-
neuropathy (FAP) V30M TTR. The study included 53
subjects: 40 (75.5%) were the offspring at risk for
FAP and 13 (24.5%) for HD. Of these, 38 (73.1%)
received the carrier result and 12 (23.1%) the non-
carrier result; 3 of them did not want to know the
result. The indicators taken for emotional distress
were the subscales and global indexes of psycho-
pathological Behavior Symptoms Inventory (BSI),
applied in the pre-test and post-test, one-year after
notification of results. Values decreased significantly
one year after the implementation of the PST, regard-
less of the studied disease or test result; this seems to
corroborate previous studies showing that testing
does not increase pre-symptomatic levels of emotional
disturbance in individuals. However, the subjects
studied showed, for all subscales and global indexes of
the BSI, significantly higher values than those of con-
trol groups.
Keywords: Psychopathologic Indexes; Subscales; BSI;
Psychological Impact; FAP; HD
1. INTRODUCTION
Huntington’s disease (HD) and Amyloidotic Polyneuropa-
thy (FAP) TTR V30M are late onset autosomal dominant
diseases for which pre-symptomatic testing (PST) is avail-
able [1-3]. PST can predict if, in a more or less distant fu-
ture, subjects identified as at risk will develop symptoms of
the disease [2,4].
Since 1992, the Center for Predictive and Preventive
Genetics (CGPP) provides a multidisciplinary approach for
the PST of HD and PAF and has become a national refer-
ence institution in genetic counseling and psychosocial
support for people who are at risk of such progressive and
debilitating diseases which are still without effective treat-
ment and cure [2].
The Diseases
HD and FAP are two examples of late-onset neurodegen-
erative disorders (LONDs), incurable and highly debilitat-
ing.
Huntington’s disease [5,6] is the most studied, largely
due to the Gusella and colleagues discovery of its genetic
marker in 1983 [7]. The predictive test for Huntington’s
disease began to be applied in Canada in 1986 and in the
US [1,8], and the 90’s was a decade of scientific progress,
namely new laboratory techniques for mutation detection
[5-7].
FAP [9,10,12] is a very specific Portuguese disease, that
also has severe neurodegenerative pathways and for which
there is still no effective treatment or cure.
Several psychosocial studies have been done in families
and their descendants at risk for neurodegenerative diseases
are diagnosed in CGPP [12-15].
Lêdo [12] studied FAP carriers, concluding that after a
year of knowledge of their genetic status, there was ab-
sence of emotional distress and feelings of hopelessness.
Other studies concerning subjects at risk for FAP and
HD pointed to the existence of psychological well-being
and better health perception than control subjects [13]. Also
in this field, psychosocial genetic studies have been pub-
lished focusing on a lengthier experience of more than 10
years after counseling of individuals at risk [14], as well as
research on the topic of the effects of contact time with the

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 271
disease or the parent affected in the psychological outcome
of PST [15].
Despite the different approaches, there are still issues
regarding the impact of the application of PST to diseases
with similar first symptoms at the early adulthood and a
degenerative path, but with different treatment options and
clinical outcomes (e.g. the psychiatric disorders, unique to
Huntington’s disease). It continues to be relevant to re-
search to correlate the psychological impact of the test re-
sults with other variables such as cultural and socio-demo-
graphic profile of this population. Hence, the following
was established as objectives of this research: 1) to com-
pare the BSI psychopathological indices observed before
and one year after completion of the PST and 2) to differ-
entiate psychological impact related to a type of risk dis-
ease, carrier or non-carrier status and demographic vari-
ables (age, gender, marital status) included in the general
protocol.
2. MATERIAL AND METHODS
A retrospective study of clinical files was designed based
on subjects who underwent pre-symptomatic testing for
genetic autosomal dominant diseases with late onset (HD
and FAP), in CGPP, between 2000 and 2010. These files
contained data regarding the psychological evaluations
conducted along the four moments of the general psy-
chological evaluation protocol: 1) 1st moment, pre-test,
prior to the genetic test; 2) 2nd moment, three weeks
after receiving the test result and knowing the genetic
status; 3) 3rd moment, six months after disclosure; 4) 4th
moment, one year after disclosure.
In the present study only two specific moments were
considered, corresponding to the psychopathological
inventory here applied: pre-test, 1st moment a, and one
year after disclosure (post-test or 4th moment d).
2.1. Subjects
The initial sample (Table 1) comprised 686 subjects at
baseline: 586 (85.4%) came in to undertake the pre-
symptomatic test for FAP, 92 (13.4%) for HD and 8
(1.2%) for MJD (Machado Joseph Disease). 58.6% of
the subjects were female. It was found that 51.3% of the
participants were single, 44.7% were married. From the
initial total, 29 did not appear to receive the test result,
352 (51.6%) were given a positive result as carriers and
305 (44.7%) received the result of non-carriers for the
tested condition. At any of the given four moments of
the general protocol some participants abandoned the
intended follow-ups. The presumed causes for this out-
come are either being given the result of non-carriers,
hence no recognition of need to stay in the study or
being given the result of carrier, unwillingness to follow
protocol. This is why there was a sharp decline in the
subject number at the post-test one year later.
Men and women have proven to be equivalent in
their distribution regarding the criteria age (X2 =
636.939, df = 625, p = 0.362), marital status (X2 =
5.733, df = 2, p = 0.057), and the outcome of test result
(X2 = 2.446, df = 2, p = 0.294).
However, we found that from initial 686 subjects,
only 53 attended the 4th moment. Thus, we decided to
compare only the BSI values of these 53 subjects who
were present in the 1st and 4th moment of evaluation
and considered solely FAP and HD subjects since there
were just one subject at 4th moment for MJD (Table 2).
Then the sample comprises 53 subjects with an aver-
age age of 35.19 years (SD = 10.11 years, between 21
and 60 years) (Table 2): 40 (75.5%) came in to under-
take the pre-symptomatic test for FAP and 13 (24.5%)
for HD. 60.4% (32) of the subjects were female. It was
found that 46.2% (24) of the participants were single,
Table 1. Sample Characteristics along the four moments of the general psychological evaluation protocol.
Pre Test a (N = 686) Post Test b (N = 290) Post Test c (N = 143) Post Test d (N = 54)
FAP HD MJD FAP HD MJD FAP HD MJD FAP HD MJD
N 586 92 8 248 38 4 114 25 4 40 13 1
Gender F 340
M 246
F 54
M 38
F 8
M 0
F 146
M 102
F 20
M 18
F 4
M 0
F 64
M 50
F 14
M 11
F 4
M 0
F 25
M 15
F 7
M 6
F 1
M 0
Mean Age 35.09 43.69 38.75 34.83 46.45 48.00 34.68 45.24 48.00 31.85 45.46 37.00
Marital
Status
S 320
M 239
D 10
W 8
S 27
M 59
D 0
W 0
S 2
M 6
D 0
W 0
S 134
M 104
D 3
W 3
S 13
M 23
D 1
W 1
S 1
M 3
D 0
W 0
S 59
M 52
D 0
W 1
S 9
M 14
D 1
W 1
S 1
M 3
D 0
W 0
S 22
M 17
D 0
W 0
S 2
M 11
D 0
W 0
S 0
M 1
D 0
W 0
Test
Result
NC 311
C 254
DK 17
NC 39
C 45
DK 8
NC 2
C 6
DK 0
NC 124
C 117
DK 5
NC 16
C 21
DK 1
NC 0
C 4
DK 0
NC 47
C 62
DK 3
NC 5
C19
DK 1
NC 0
C 4
DK 0
NC 10
C 29
DK 0
NC 2
C 9
DK 2
NC 0
C 1
DK 0
Gender (Female; Male); Marital Status (Single; Married; Divorced; Widow); Test Result (Non-Carrier; Carrier; Don’t know).

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 272
Table 2. Sample characteristics of the 53 subjects that finished
the general psychological evaluation protocol.
Total Pre-Test
N 53 100%
Gender F-32
M-21
F-60.4%
M-39.6%
Age 35.19 10.1
Marital Status S-24
M-29
S-46.2%
M-53.8%
Gender (Female; Male); Marital Status (Single; Married; Divorced; Widow);
Test Result (Non-Carrier; Carrier; Don’t know).
53.8% (28) were married. 38 (73.1%) were given a posi-
tive result as carriers and 12 (23.1%) received the result
of non-carriers for the tested condition; 3 (5.7%) subjects
decided not to know their genetic result (this result can-
not be known by us, until the subject know it).
2.2. Procedure
The PST protocol queries for neurodegenerative dis-
eases in CGPP have been published elsewhere [2].
In the context of the protocol, each subject answered
the BSI inventory at two stages: 1) pre-test, the first
psychological evaluation—comprises a survey and eva-
luation of the motivations that led the person to pre-
symptomatic testing, exploring his/her own decision
making processes and detection of emotional distress that
might jeopardize a good adjustment to the predictive test
result, 2) post-test, one year after reporting the genetic
test result.
The socio-demographic variables (gender, age and
marital status) and medical history were collected at the
first psychological evaluation.
The psychological variables were collected by ap-
plying the Brief Symptom Inventory—BSI [16]—adap-
ted for the Portuguese population by Canavarro [17,18].
The above mentioned inventory has 53 items rated on
a Likert scale of five grades (0 “rarely” to 4 “very of-
ten”). It evaluates the psychopathological symptoms
considering nine dimensions and three global indices
[16], which translate psychometric ratings of emotional
distress and its dimensions are: somatization (items 2, 7,
23, 29, 30, 33, 37), obsessive-compulsive (items 5, 15,
26, 27, 32, 36), interpersonal sensitivity (items 20, 21,
22, 42), depression (items 9, 16, 17, 18, 35, 50), anxiety
(items 1, 12, 19, 38, 45, 49), hostility (items 6, 13, 40,
31, 46), phobic anxiety (items 8, 28, 31, 43, 47), para-
noid ideation (items 4, 10, 24, 48, 51), and psychosis
(or psychoticism) (items 3, 14, 34, 44, and 53).
In addition to the subscales, this inventory includes
three indices that capture global psychological distress:
1) global severity index (GSI), which is the average of
all subscale scores (e.g., 53, if there are no answers
blank), 2) positive symptoms total (PST), which is the
number of items endorsed at a level higher than zero, 3)
positive symptom distress index (PSD), which corre-
sponds to the sum of all item values divided by the PST.
A PSD index ≥ 1.7 reflects the possible presence of
emotional disturbance and “a lower value is present in
the general population” [18].
2.3. Data Analysis
Statistical analysis was performed using the Statistical
Program for Social Sciences (SPSS), version 18.0 for
Windows.
The differences between groups, regarding the psy-
chological measurements, were tested with the Student’s
t test and ANOVA; we also use regression analysis in
order to make predictions of some variables.
3. RESULTS
3.1. Pre-Test
At this stage, the average values of the BSI subscales, as
well as the average indices of the inventory, basically
revealed the absence of emotional pathology. If the val-
ues presented by Canavarro [17] for the general popula-
tion are taken as reference, the values of the BSI, at the
pre-test stage, are higher. However, they are still lower
than the portuguese population considered to be suffering
from emotional disturbance [17], as can be seen in Table
3.
When compared the BSI variables with some socio-
demographic variable, no significantly different values in
all subscales were found at the pre-test stage for the
gender and age variables.
A socio-demographic variable that showed some sta-
tistically significant results was marital status. The soma-
tization subscale revealed statistically significant differ-
ent values in relation to marital status: single had lower
average scores of somatization than married (Table 4).
Another socio-demographic variable that showed sta-
tistically significant results was type of disease. The
somatization subscale revealed statistically significant
different values in relation to type of disease: subjects at
risk for FAP had lower average scores of somatization
than subjects at risk for HD (Table 5).
3.2. Post-Test
Regarding the post-test BSI (BSId) implementation, the
average scores obtained on the subscales and indixes
decreased when compared to pre-test BSI (BSIa) (Table
6).
With respect to the subjects at risk for FAP, the values

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 273
Table 3. Comparison of the average values for the subscales and indices of the BSI at pre-test with normalization references for the
Portuguese general population and disturbed population (Canavarro, 1999).
Averages and indexes of the subscales at pre-test General Population
Canavarro (1999)
Emotional Disturbed Population.
Canavarro (1999)
Subscales N Mean SD Mean SD Mean SD
Somatization 53 4.226 4.734 0.573 0.916 9.445 7.032
Obs. compulsive 53 5.906 4.143 1.290 0.878 11.534 5.567
Interp. sensitivity 53 3.094 2.870 0.958 0.727 6.404 4.143
Depression 53 4.094 4.221 0.893 0.722 11.034 6.275
Anxiety 53 4.415 3.734 0.942 0.766 10.521 5.658
Hostility 53 3.877 3.238 0.894 0.784 7.034 4.529
Phobic anxiety 53 2.038 2.572 0.418 0.663 5.082 4.656
Paranoid ideat 53 4.472 3.195 1.063 0.789 7.651 4.263
Psychosis 53 2.717 3.066 0.668 0.614 7.021 4.140
Indexes N Mean SD
GSI 53 0.703 0.526 0.835 0.480 1.430 0.705
PST 53 23.132 12.862 26.993 11.724 37.349 12.166
PSD 53
1.506 0.382 1.561 0.385 2.111 0.595
Table 4. Comparison between average values of the subscales
and indexes of the BSI in relation to the variable marital status at
pre-test.
Subscales BSIa Mean N F Sig.
Single 2.750 24
Somatization
Married 5.321 29
4.044 0.050
Table 5. Comparison between average values of the subscales
and indexes of the BSI in relation to the type of disease at pre-
test.
Subscales BSIa Mean N F Sig.
FAP 3.450 40
Somatization
HD 6.615 13
4.699 0.035
of the BSI subscales and indexes are also lower at post-
test moment than at the pre-test. The same applies to sub-
jects at risk for HD. When comparing samples for FAP
and HD, we found that in the pre-test subjects at risk for
HD present higher values for all BSI subscales and in-
dexes, except for phobic anxiety and paranoid ideation
subscales.
The subjects who transitioned from pre-test moment to
post-test are mainly carriers (Table 7).
When comparing carriers and non carriers samples, at
post-test, we found that carriers present higher values for
all BSI subscales and indexes, except for hostility, para-
noid ideation and psychosis subscale and PSD.
When comparing samples of FAP and HD carriers, at
post-test, we found that HD carriers present higher val-
ues for all BSI subscales and indexes, except paranoid
ideation subscale and PSD.
If we compare samples of FAP and HD non carriers, at
post-test, we found that FAP non carriers present higher
values for all BSI subscales and indexes; this can be ex-
plained by the low number of HD non carriers that re-
mained in the protocol.
However, the differences between the averages of the
subscales and indexes regarding the sociodemographic
variables (gender, age, marital status) and type of disease
and test result variables are not statistically significant.
3.3. Comparison between the BSI Subscales in
the Two Moments
It was found that the average values for all subscales of
the BSI declined significantly after the year in which the
outcome of PST was made (p < 0.05) (Table 8).
There was also a decrease in the average values
obtained for the scores of GSI (t = 3.837; df = 53; p =
0.00) and PST (t = 4.140, df = 53, p = 0.00).
From the PSD it was possible to know the degree of
pathology, with reference to the score 1.7 as the cut point
from which emotional disturbance is revealed [17] (Ca-
navarro et al., 1999) (Table 8). In no time, the PSD value
equaled or exceeded the cut point.

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 274
Table 6. Average scores for the pre and post-test BSI subscales and indexes.
TOTAL PRE
TESTE TOTAL POS TEST PRE TEST POS TEST
FAP HD FAP HD
N 53 100% 53 100% 40 75.5% 13 24.5% 40 75.5% 13 24.5%
Gender F-32
M-21
F-60.4%
M-39.6%
F-32
M-21
F-60.4%
M-39.6%
F-25
M-15
F-47.2%
M-28.3%
F-7
M-6
F-13.2%
M-11.3%
F-25
M-15
F-47.2%
M-28.3%
F-7
M-6
F-13.2%
M-11.3%
Age 35.19 10.1 35.19 10.1 31.85 1.22 45.46 2.75 31.851.22 45.46 2.75
Marital
Status S-24
M-29
S-46.2%
M-53.8%
S-24
M-29
S-46.2%
M-53.8%
S-22
M-17
S-41.5%
M-32.1%
S-2
M-11
S-3.8%
M-20.8%
S-22
M-17
S-41.5%
M-32.1%
S-2
M-11
S-3.8%
M-20.8%
Test Result
NC-10
C-29
DK-1
NC-18.9%
C-54.7%
DK-1.9%
NC-2
C-9
DK-2
NC-3.8%
C-17.0%
DK-3.8%
Mean SD Mean SD Mean SD Mean SD MeanSD Mean SD
Somatization 4.226 4.734 4.226 4.734 3.450 3.249 6.615 7.388 2.4362.891 4.308 4.608
Obs.
compulsive 5.906 4.143 5.906 4.143 5.575 3.281 6.923 6.157 3.5642.854 5.000 5.132
Interp.
sensitivity 3.094 2.870 3.094 2.870 2.875 2.729 3.769 3.295 2.1842.502 2.231 2.242
Depression 4.094 4.221 4.094 4.221 3.825 3.908 4.923 5.155 2.5793.584 4.462 4.926
Anxiety 4.415 3.734 4.415 3.734 4.050 3.146 5.539 5.142 2.7112.818 4.385 3.618
Hostility 3.877 3.238 3.877 3.238 3.437 3.036 5.231 3.586 2.7112.660 4.539 3.733
Phobic
anxiety 2.038 2.572 2.038 2.572 2.500 2.512 2.154 2.853 1.0791.667 1.692 3.449
Paranoid
ideation 4.472 3.195 4.472 3.195 4.725 3.202 3.692 2.750 3.2633.064 2.750 1.815
Psychosis 2.717 3.066 2.717 3.066 2.525 2.631 3.308 4.211 1.5261.969 2.250 2.340
GSI 0.703 0.526 0.703 0.526 0.652 0.431 0.861 0.749 0.4460.394 0.564 0.534
PST 23.132 12.862 23.132 12.862 22.15012.027 26.15415.285 15.85012.817 21.69013.634
PSD 1.506 0.382 1.506 0.382 1.491 0.337 1.553 0.510 1.4400.408 1.420 0.395
The regression analyses enable exploring and infer the
relationship of a dependent variable (response variable)
with specific independent variables (explanatory vari-
ables). In linear regression is considered that the ratio of
the response variables is a linear function of certain pa-
rameters.
Thus, when we present the values resulting from the
stepwise method, for a sample of 53 subjects, taking as
dependent variable the BSI somatization subscale, at first
moment of data collection (pre-test) and as independent
variables, the gender, marital status and type of disease
(FAP and HD) variables, the final equation comprises
only the variable type of disease (R2 = 0.075; F = 5151;
df = 1; p = 0.028) explaining 7.5% of the variance of this
subscale.
When we present the values resulting from the step-
wise method, for a sample of 53 subjects, taking as de-
pendent variable the BSI depression subscale, at the last
moment of data collection (pos-test) and as independent
variables, the gender, marital status and type of diseases,
the final equation comprises only the variable type of
disease (R2 = 0.062; F = 4173; df = 1; p = 0.047), ex-
plaining 6.2% of the variance of this subscale.
We proceeded making the linear regression analysis to
the BSI anxiety subscale at post-test and the final equa-
tion comprises only the variable type of disease (R2 =
0.065; F = 4320; df = 1; p = 0.043), explaining 6.5% of
the variance of this subscale.
We also proceeded to a linear regression analysis to
the BSI hostility subscale at post-test and the final equa-
tion comprises only the variable type of disease (R2 =
0.061; F = 4125; df = 1; p = 0.048), explaining 6.1% of
the variance of this subscale.
We proceeded making the linear regression analysis to

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 275
Table 7. Average scores for the BSI subscales and indexes at post test (carriers and non carriers).
POS TEST POS TEST—CARRIERS POS TES—NON CARRIERS
CARRIERS NON CARRIERSFAP HD FAP HD
N 38 76% 12 24% 29 58% 9 10 83.3% 2 16.6%
Gender F-23
M-15
F-60.5%
M-38.5%
F-7
M-5
F-63.6%
M-36.4%
F-17
M-12
F-58.6%
M-41.4%
F-6
M-3
F-66.7%
M-33.3%
F-7
M-3
F-70%
M-30%
F-1
M-1
F-50%
M-50%
Age 34.55 10.35 36.48 10.69 31.197.78 45.6710.09 33.00 7.35 54.500.71
Marital
Status S-19
M-19
S-50%
M-50%
S-5
M-7
S-41.7%
M-58.3%
S-17
M-12
S-60.7%
M-39.3%
S-2
M-7
S-22.2%
M-77.8%
S-5
M-5
S-50%
M-50%
S-0
M-2
S-0%
M-100%
Type disease FAP-29
HD-9
FAP-76.3%
HD-23.7%
Mean SD Mean SD Mean SD MeanSD Mean SD MeanSD
Somatization 3.00 3.65 2.50 2.61 2.5002.963 4.5565.175 2.500 2.877 2.5000.707
Obs.
compulsive 4.14 3.95 3.33 2.610 3.4643.037 6.2225.696 3.800 2.573 1.0001.414
Interp.
sensitivity 2.42 2.62 1.83 1.95 2.3332.689 2.6672.550 2.000 2.055 1.0001.414
Depression 3.31 4.52 2.08 2.39 2.7413.996 5.000 5.745 2.200 2.530 1.5002.121
Anxiety 3.22 3.54 2.75 1.60 2.6673.199 4.889 4.167 2.800 1.751 2.5000.707
Hostility 3.06 3.18 3.42 3.09 2.3332.564 5.2224.177 3.600 3.169 2.5002.536
Phobic
anxiety 1.33 2.22 1.25 1.76 0.9631.63 2.4443.972 1.500 1.841 0.0000.000
Paranoid
ideation 3.06 2.75 3.67 3.20 3.1853.039 2.6251.506 3.800 3.225 3.0004.243
Psychosis 1.63 2.22 1.83 1.90 1.2961.996 2.7502.712 2.100 1.969 0.5000.707
GSI 0.48 0.47 0.46 0.34 0.4340.416 0.6390.662 0.494 0.364 0.3110.173
PST 16.63 13.74 18.42 12.85 14.59 12.757 23.22015.458 19.800 13.497 11.5007.778
PSD 1.51 0.45 1.29 0.23 1.5200.447 1.4700.469 1.250 0.219 1.51 0.222
the BSI phobic anxiety subscale at post-test and the final
equation comprises only the variable gender (R2 = 0.068;
F = 4477; df = 1; p = 0.040), explaining 6.8% of the
variance of this subscale.
In summary, the independent variable type of disease
contributes to the explanation of the dependent variables
somatization (pre-test) and depression, anxiety and hos-
tility (post-test). Furthermore, the independent variable
gender partially explains the dependent variable phobic
anxiety at post-test, with averages among men (0.700)
and female (1581) differing, although this difference was
not significant.
4. DISCUSSION
The pre and post-test BSI values were higher than the
general population values, presented by Canavarro [17].
However, they were not as high as those of the popula-
tion considered by the author as suffering from emo-
tional disturbance at the time of the standardization of
the scale for the Portuguese population [17]. Indeed,
there were no values mirroring the existence of emo-
tional distress, even for those subjects who received the
result of carriers for the two studied diseases (pre-test
carriers PSD = 1.47, SD = 0.40; post-test PSD = 1.52,
SD = 0.44).
It was found that the average values for all subscales
of the BSI declined significantly after the year in which
the outcome of PST was made. There was also a de-
crease in the average values obtained for the GSI and
PST scores. With respect to the subjects at risk for FAP,
the values of the BSI subscales and indexes are also
lower at post-test moment than at the pre-test; the same
applies to subjects at risk for HD. In no time, the PSD
value equaled or exceeded the cut point.
Beyond the different socioeconomic circumstances
which were not controlled in this study, one could say

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 276
Table 8. Comparison between the average scores of the different BSI subscales in pre-test (BSIa) and at post-test (BSId).
BSI Subscales Mean N t d. f. Sig. (2-tailed)
BSIa 4.269 53
Somatization
BSId 2.904 53
3.095 53 0.003
BSIa 5.961 53
Obsessive-compulsive
BSId 3.923 53
4.137 53 0.000
BSIa 3.216 53
Interpersonal sensitivity
BSId 2.196 53
2.929 53 0.005
BSIa 4.196 53
Depression
BSId 3.059 53
2.321 53 0.024
BSIa 4.549 53
Anxiety
BSId 3.137 53
2.778 53 0.008
BSIa 4.029 53
Hostility
BSId 3.177 53
2.220 53 0.031
BSIa 2.118 53
Phobic anxiety
BSId 1.235 53
2.463 53 0.017
BSIa 4.380 53
Paranoid ideation
BSId 3.140 53
3.012 53 0.004
BSIa 2.600 53
Psychosis
BSId 1.700 53
2.570 53 0.013
that the results mean that despite the fact that the sample
cannot be regarded as suffering from emotional problems,
it also does not share the same lack of emotional distress
as observed in the general population. These results may
contradict published studies which have described higher
levels of psychological well-being in subjects at risk
compared to the general population [14,19,20] and in
which this tendency has been justified with a self-selec-
tion process developed by the most psychologically pre-
pared subjects prior to the PST, explanation widely ac-
cepted by several studies [3,14,19-21].
On the one hand, these results highlight the need for
psychological support in the implementation of predic-
tive testing, since the psychological suffering of indi-
viduals at risk may precede by many years the clinical
onset of the disease [22]. On the other hand, a significant
decrease in the values of some BSI subscales and indexes,
in the post-test, is another important result of this study.
This could possibly mean that the subjects have higher
values of psychopathology at the pre-test moment, which
may be due to the fact that the pre-test could trigger more
significant psychosocial symptoms in the day-to-day
lives of the subjects. Again, this seems to reaffirm the
need for psychological counseling and, in some cases,
psychiatric, of these subjects during the process of ge-
netic counseling [23]. Other assumptions are related to
the character and even beneficial nature of therapeutic
protocols that have been developed to support informa-
tion and counseling, and are included in the PST general
protocols [3,14,20,21], as well as the favorable impact of
reducing uncertainty and gain the sense of control over
the disease resulting from an established pre-sympto-
matic diagnosis [14,15,24].
If we compared samples for FAP and HD, we found
that, at pre-test, subjects at risk for HD present higher
values for all BSI subscales and indexes, except for pho-
bic anxiety and paranoid ideation subscales. It is surpris-
ing that the subjects at risk for FAP seems to come for
predictive testing more frightened than subjects at risk
for HD; usually, the subjects at risk for FAP have more
hope due to the possibility of liver transplantation and
new drugs under study.
At pre-test, one socio-demographic variable for which
the BSI score averages showed statistically significant
differences was the marital status, which seems to point
to the hypothesis that people who feel lonelier may be
more likely to somatize and show a higher degree of
psychopathology. This may be related to the personal
perception of a possible lack of emotional support and
more effective future care, due to the possible inexist-

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 277
ence of a caregiver. This perception may lead the subject
to a state of higher internal anguish that cannot be exter-
nalized differently (like matured mentally), and does so
somatically (through physical symptoms). The presence
of a somatic pathway for the expression of affection has
been described in this population [11,15].
Another variable that showed statistically significant
results was type of disease. The somatization subscale
revealed statistically significant different values in rela-
tion to type of disease: subjects at risk for FAP had lower
average scores of somatization than subjects at risk for
HD. Indeed, the type of disease contributes to the expla-
nation of the dependent variable somatization. This may
be related to HD characteristics, namely, behavioral
changes prior to neurological disorders, what leads a
person at risk for HD to have more somatic complaints.
The subjects who transitioned from pre-test moment to
post-test are mainly carriers. Almost all non-carriers do
not understand the need to remain in predictive testing
protocol after knowing their genetic status of non-carrier;
so, after some time, they fail to attend. Even if they un-
derstand the need to keep the protocol until the end, labor
and economic constraints eventually prevent them from
continuing.
When comparing carriers and non carriers samples, at
post-test, we found that carriers present higher values for
all BSI subscales and indexes, except for hostility, para-
noid ideation and psychosis subscales and PST index.
We understand better that carriers have higher values in
most of the BSI subscales and indexes than non-carriers
have higher values on the hostility, psychosis and para-
noid ideation subscales as well in PST index. Eventually,
paranoid ideation and psychosis may be explained by the
suspicion that some non carriers keep in relation to their
genetic status: the need to stay at the predictive test pro-
tocol can be interpreted as having the possibility of be-
coming carriers. Hostility seems to be better explained
by the fact that some patients remain in the protocol
thwarted.
One previous study only with FAP carriers [12] also
found that most of them did not have psychological dis-
turbance or sense of hopelessness after a year of knowing
their genetic status. One of the explanations given by the
authors was that the personality structure of these sub-
jects that can be very similar to that of psychosomatic
personalities. This present a very poor capacity for sym-
bolic thinking or subjectivity, therefore, they present
difficulty to draw up mentally their negative emotions
(internal anguish). Perhaps this could explain the high
values recorded in the somatization subscale in subjects
without a partner, translating their difficulty to accept
this reality. This explanation that emphasizes this kind of
personality structure found in the population of carriers
of FAP, may also explain why, once again, and also in
the present study, emotional disturbance was not found
resulting from the knowledge of genetic status (carrier or
non carrier). This may then be justified by the existence
of a type of personality structure near psychosomatic
personalities in which the individual has very rigid de-
fense mechanisms, repressing anything that might be
disturbing, trying to avoid thinking about a reality that
causes so much anguish.
When comparing samples of FAP and HD carriers, at
post-test, we found that HD carriers present higher val-
ues for all BSI subscales and indexes, except paranoid
ideation subscale and PSD. Again, we become surprised
with FAP carriers (as well as the non carriers, like we
said above) having higher levels of paranoid ideation.
If we compare samples of FAP and HD non carriers, at
post-test, we found that FAP non carriers present higher
values for all BSI subscales and indexes; this can be ex-
plained by the low number of HD non carriers that re-
mained in the protocol.
Specifically, the finding of higher post-test hostility in
subjects at risk for HD (regardless of the molecular re-
sults obtained) may be related to the clinical characteri-
zation of this disease, unique for the neurodegenerative
diseases here studied, that presents mental deterioration
prior to the motor and autonomic symptoms. Thus, the
nature and the subjective perception of the degree of se-
verity and prognosis of the disease felt by affected or at
risk individuals should be weighed [3,25]. It is interest-
ing to note that the type of disease is the variable that
best predicts some of the subscales of the BSI (somatiza-
tion in pre-test and depression, anxiety and hostility in
post-test).
Finally, the variable gender partially explains the de-
pendent variable phobic anxiety at post-test, with aver-
ages among men (0.700) and female (1.581) differing,
although this difference was not significant. The higher
levels of psychopathology found in female subjects are a
finding consistent with different previous publications
[3,19]. It is worth noting that a higher trend in men’s
denial of feelings has been recognized. The predictive
nature of the socio-demographic variables of the popula-
tion that underwent the PST, as well as their levels of
psychological functioning have been widely discussed
[3,7,14,21,24,25]. For its clinical relevance in the estab-
lishment of more timely intervention in those individuals
identified as vulnerable, this is indeed one of the most
relevant results of the study. Nevertheless, despite the
establishment of predictive variables under study, the
need for a careful and personalized support for each in-
dividual who came to consummate the PST continues to
be an ethical principle that needs to be established [2,3].
Therefore, we can say that the group of subjects here
studied is a distinguished population and, as in other
studies for Portuguese samples, such populations have

L. Susana et al. / Open Journal of Genetics 3 (2013) 270-279 278
higher values on the BSI subscales than the general
population. This result is consistent with previous studies,
for example, patients with fibromyalgia [26], drug ad-
dicts [27] or mothers with children with cerebral paraly-
sis [28] on the Portuguese population.
5. CONCLUSION AND CLINICAL
IMPLICATIONS
There is a decrease in average values between the pre-
and post-test moments regarding the studied psycho-
pathological scores, stating that subjects have higher
levels of psychopathology prior to pre-symptomatic test-
ing than one year after notification of genetic test results.
That’s why this research reveals the need for the exis-
tence of a rigorous protocol of consultation and evalua-
tion of genetic counseling and psychosocial support,
from the base line to a considerable post-test period with
emphasis on symbolic representation of the disease and
self coping mechanisms to face all the disease informa-
tion and the condition of being a carrier or a non carrier
with a past history or relatives with the disease. Another
need perhaps is the future implementation of therapeutic
groups with goals of psychosocial support for this popu-
lation.
The inherent characteristics of each disease, as well as
the knowledge of the genetic status—be a carrier or non
carrier—do not seem to significantly influence the exis-
tence of emotional distress, as would initially be ex-
pected. Only the gender and marital status variables were
important in the oscillation of the values of psycho-
pathological scores, stating that it was women who had
the highest values, as well as the single or widow indi-
viduals.
Although there were no observed score inductors of a
degree of psychopathological disturbance (higher than
1.7) we cannot, however, conclude that the pre-sympto-
matic testing for these diseases does not affect the indi-
viduals, since all the values found in our results are
higher than the reference values for general population.
This suggests that these subjects did not show complete
absence of emotional disturbance. For this reason, there
must be given increasing attention to the individual
characteristics of each subject and adapt the psychologi-
cal support to each individual’s needs, since it is a popu-
lation that has different ways of coping with psychologi-
cal distress.
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