2. 338 Journal of Community Genetics (2023) 14:337–344
1 3
The etiology of cancer is multifactorial, influenced by
genetic, environmental, medical, and lifestyle factors. Inher-
ited genetic mutations play a major role in 5–10% of all
cancers, with greater than 50 hereditary syndromes associ-
ated with gene mutations that lead to neoplasm develop-
ment (PDQ® Cancer Genetics Editorial Board 2022). With
advancing genetic databases and detailed genetic testing
methods in development for clinical application, examining
these mutations that predispose at-risk patients is now possi-
ble. Through genetic testing, patients with hereditary cancer
syndromes can be provided with individualized management
options, leading to better prognoses and an improved Quality
of Life (QoL) (Sándor 2018;Offit and Brown 1994; Lindor
and Greene 1998).
Therefore, sufficient knowledge amongst healthcare
professionals (HCPs) in clinical practice regarding cancer
genetic testing (CGT) is essential. HCPs play an impor-
tant role in the practical application of genetic screening
tests, interpretation of their results, counseling patients, and
preventative/corrective interventions. A review by Becker
et al. demonstrated that appropriate use of genetic testing
for breast and colon cancer was efficacious and cost-effective
(Becker et al. 2011). However, various reports conducted
worldwide suggest that HCPs do not have proper knowledge
regarding CGT in clinical care, with many physicians feeling
inadequate in training regarding cancer genetics (The 2011;
Feero and Green 2011; Marzuillo et al. 2013). A cross-
sectional study from Switzerland revealed primary care
physicians lacked relevant knowledge to manage patients
with a family history of cancer and there was no program
to facilitate the physicians for genetic testing and preven-
tion guidelines (Pichert et al. 2003). This highly suggests a
need for increasing the genomic literacy of HCPs for better
patient outcomes.
As the complexity of gene-related malignancies increases,
it demands commensurate growth and preparedness of HCPs
to cater to patients’ needs. No evident survey to date has
been conducted in Pakistan to assess the utilization of cur-
rently available CGTs and counseling strategies amongst
HCPs. The aim of our study is to assess the knowledge, atti-
tude, and perception of regional HCPs regarding the appli-
cation of cancer genetics, such as routine genetic screening
tests and counseling in clinical practice. The results of this
study may validate the need for proper training of Pakistani
HCPs regarding genomic knowledge in management of
cancer.
Methods
We conducted this descriptive cross-sectional study in
Karachi, Pakistan, from April 2022 to June 2022, at two
tertiary care hospitals: The Jinnah Postgraduate Medical
Centre (JPMC, public sector) and Liaquat National Hospital
(private sector). The study was approved for being con-
ducted by the Institutional Review Board of JPMC (Supple-
mentary Information File) and a self-designed questionnaire
was developed through a detailed review of existing litera-
ture (Panic et al. 2014; Acton et al. 2000; Hann et al. 2017)
and pre-tested on 10 HCPs. The final questionnaire con-
sisted of 43 items, with sections on Socio-Demographics,
Knowledge & Training, Attitude and Perceptions towards
CGT. HCPs were individually approached for informed
consent to participate in this study. Participants either filled
the questionnaire in person immediately or were emailed an
anonymous form and requested for it to be returned at the
earliest possible convenience. Email reminders were sent to
fill the form at 2-week intervals, up to 3 months. Anonym-
ity was maintained amongst participants, with no personal
information or identifiers recorded, and consent forms col-
lected separately.
We selected our population through convenience sam-
pling. A broad study population was considered, from all
disciplines and specialties of Medicine. Among HCPs,
those pursuing a non-clinical career were excluded from the
final analysis to ensure that responses only included HCPs
involved in clinical practice. Some examples of such HCPs
include those employed solely as a medical school professor,
hospital administrator, or medical researcher. Interns/House
Officers were also excluded, as they would require greater
clinical experience before being expected to prescribe CGT
for patients.
Statistical analysis was conducted using SPSS
V25.0 (Armonk, NY), with continuous data reported as
means±standard deviation (S.D.) and categorical variables
as gross numbers and percentages (n; %). Statistical sig-
nificance between public and private sectors was compared
using the independent sample t-test for continuous variables
and chi-squared test for categorical variables. A P-value
of<0.05 was considered significant for all analyses.
Results
A total of 384 HCPs were approached to participate in this
study, of which 210 agreed to participate. Ten participant
responses were not included in the subsequent final analysis,
since they were not involved in any clinical activity (over-
all response rate =54.7%). Additionally, missing data and
wide disparity in the responses of certain HCPs led to these
responses being excluded from data analysis.
Our study included participants from both the private
(N = 100, 47.6%) and public sectors (N = 110, 52.4%),
representing an approximately equal proportion of males
and females with a sex ratio of 1.18, along with the
mean age of respondents 36.2 ± 10.2 years. More than
3. 339
Journal of Community Genetics (2023) 14:337–344
1 3
half the respondents (N = 114, 54.3%) belonged to the
field of medicine, with 37.6% (N = 79) in surgery, and
the remainder 8.1% (N = 17) in other professional clinical
areas. 36.7% (N = 77) of HCPS had been in practice for
more than 10 years, 20.0% (N = 42) for 5–10 years, and
43.3% (N = 91) for less than 5 years. There were 32.9%
(N = 69) participants who reported a personal or family
history of cancer.
Knowledge and training
Table 1 outlines and compares the knowledge and training of
participants from public and private hospitals regarding CGT.
Significantly more physicians in the public sector (N=46,
41.8%) dedicated ≥ 5 h/week for CME, as opposed to 24
(24.0%) doctors in the private sector (P=0.006). More than
half of the respondents from both private (N= 56, 56.0%)
and public (N = 60, 54.5%) hospitals similarly considered
their knowledge inadequate, with only 2.0% (N=2) of par-
ticipants from private and 1.8% (N=2) from public hospitals
having an excellent fund of knowledge.
Additionally, significantly more HCPs in the public sector
compared to their private counterparts believed they were
better prepared to counsel a patient regarding genetic testing
[24 (21.8%) vs 8 (8.0%); P=0.021] and were more confident
about their ability to interpret the results of CGT [19 (17.3%)
vs 5 (5.0%); P=0.020].
Attitude towards cancer genetic testing
Table 2 demonstrates the attitudes of participants towards CGT.
Table 1 Knowledge and
training of participants from
public and private hospitals
regarding cancer genetic testing.
*P-value is significant
Variable Total; N=210
n (%)
Private; N=100
n (%)
Public; N=110
n (%)
P-value
Have you received any training in cancer genetic during medical school?
Yes
No
31 (14.8)
179 (85.2)
14 (14.0)
86 (86.0)
17 (8.1)
93 (84.5)
0.767
Have you had exposure to cancer genetic testing during residency /CME courses?
Yes
No
52 (24.8)
158 (75.2)
28 (28.0)
72 (72.0)
24 (21.8)
86 (78.2)
0.300
How many hours per week do you dedicate to continuing medical education?
≤5
≥5
140 (66.7)
70 (33.3)
76 (76.0)
24 (24.0)
64 (58.2)
46 (41.8)
0.006*
Have there been patient requests of cancer genetic tests in the previous year?
Yes
No
64 (30.5)
146 (69.5)
32 (32.0)
68 (68.0)
32 (29.1)
78 (70.9)
0.647
When was the last time you referred a patient for cancer genetic testing?
≤12 months
≥24 months
110 (52.4)
100 (47.6)
48 (48.0)
52 (52.0)
62 (56.4)
48 (43.6)
0.226
How would you rate your level of knowledge on the appropriate use of genetic tests for cancer in clinical
practice?
Poor/inadequate
Sufficient
Excellent
116 (55.2)
90 (42.9)
4 (1.9)
56 (56.0)
42 (42.0)
2 (2.0)
60 (54.5)
48 (43.6)
2 (1.8)
0.970
How qualified do you find yourself to prescribe cancer genetic testing?
Very
Somewhat/little
Not at all
12 (5.7)
159 (75.7)
39 (18.6)
4 (4.0)
75 (75.0)
21 (21.0)
8 (7.3)
84 (76.4)
18 (16.4)
0.449
How prepared do you feel to counsel patient with regard to a particular genetic test?
Very
Somewhat/little
Not at all
32 (15.2)
160 (76.2)
18 (8.6)
8 (8.0)
83 (83.0)
9 (9.0)
24 (21.8)
77 (70.0)
9 (8.2)
0.021*
How confident are you in your ability to interpret results of cancer genetic test?
Very
Somewhat/little
Not at all
24 (11.4)
154 (73.3)
32 (15.2)
5 (5.0)
78 (78.0)
17 (17.0)
19 (17.3)
76 (69.1)
15 (13.6)
0.020*
Do you discuss a family history of cancer with your patients?
Frequently
Occasionally/rarely
Never
107 (51.0)
93 (44.3)
10 (4.8)
52 (52.0)
45 (45.0)
3 (3.0)
55 (50.0)
48 (43.6)
7 (6.4)
0.520
4. 340 Journal of Community Genetics (2023) 14:337–344
1 3
This section of the questionnaire consisted of 5 questions
and was scored as follows:
“Yes” was scored as (1/1) point, and “No” as (0/1).
“Very” was assigned (2/2) points, “Somewhat/Little” (1/2)
point, and “Not at all” as (0/2) points. Thus, from a total of 7
points, using 75% and 25% as upper and lower limit cutoffs:
≥6/7: Good Attitude
2–5/7: Fair Attitude
<2/7: Poor Attitude
Overall, HCPs in both private and public sectors agreed
to a dedicated need for specific training courses in cancer
genetics, and that it is important to increase their knowledge
about the clinical applicability of CGT. Our results dem-
onstrate that 68.6% (N = 144) participants have a positive
attitude towards CGT, with a mean total score of 5.81±1.35.
Perceptions about cancer genetic testing
Table 3 outlines and compares perceptions of doctors regard-
ing cancer genetic testing in private and public settings.
This section of the questionnaire consisted of 17 ques-
tions and was scored as follows:
Least Important (0/2 points), Somewhat Important/
Important (1/2 point), and Very Important/Most Important
(2/2 points). Agree (2/2 points), Uncertain (1/2 point), and
Disagree (0/0 points). Thus, from a total of 34 points, using
75% and 25% as upper and lower limit cutoffs:
≥26/34: Good Perception
9–25/34: Fair Perception
<9/34: Poor Perception
Generally, participants agreed that CGT can increase
chances of cancer prevention and that research in cancer
genetics will yield important improvements in how the
disease is treated. While there were no significant differ-
ences between public and private HCP respondents, par-
ticipants overall perceived cancer genetic testing in a posi-
tive light (N=116, 55.2%) with a total perception score of
25.84±3.85.
Respondents were asked to prioritize the financing of
possible health interventions to improve the current state
of CGT in our healthcare system. “Screening tests for spe-
cific cancers e.g., mammography every other year in women
over 50” proved to be the most popular option with 47.6%
(N=100) of the doctors opting in its favor, while “Evalua-
tion of new combination therapies and complementary medi-
cine” proved to be the least popular, with only 7.1% (N=15)
votes for top priority financing. Participant responses are
discussed in Table 4.
Discussion
Genetic testing has become an essential tool for the optimal
treatment of various oncological diseases. It is imperative
to determine health professionals’ knowledge and attitude
towards cancer genetic testing (CGT), as doctors are the
Table 2 Attitude of participants
from public and private
hospitals regarding cancer
genetic testing
Variable Total; N=210
n (%)
Private; N=100
n (%)
Public; N=110
n (%)
P-value
Is there a need for specific post-graduate courses on the use of genetic testing for cancer?
Yes
No
182 (86.7)
28 (13.3)
86 (86.0)
14 (14.0)
96 (87.3)
14 (12.7)
0.786
Should more time be dedicated to cancer genetics during post-graduate training/courses?
Yes
No
186 (88.6)
24 (11.4)
90 (90.0)
10 (10.0)
96 (87.3)
14 (12.7)
0.535
Is it important to increase your knowledge about the use of genetic tests for cancer in clinical practice?
Very
Somewhat/little
Not at all
134 (63.8)
75 (35.7)
1 (0.5)
58 (58.0)
42 (42.0)
0
76 (69.1)
33 (30.0)
1 (0.9)
0.110
Do you think that genetic testing provides useful information about the risk of cancer and helps tailor
screening and preventive surgery recommendations?
Very
Somewhat/little
Not at all
138 (65.7)
72 (34.3)
0
61 (61.0)
39 (39.0)
0
77 (70.0)
33 (30.0)
0
0.170
Attitude:
Good
Fair
Poor
144 (68.6)
66 (31.4)
0
66 (66.0)
34 (34.0)
0
78 (70.9)
32 (29.1)
0
0.444
Total attitude score 5.81±1.35 5.69±1.37 5.91±1.34 0.242
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Journal of Community Genetics (2023) 14:337–344
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Table 3 Perception of
participants from public and
private hospitals regarding
cancer genetic testing
Variable Total; N=210
n (%)
Private; N=100
n (%)
Public; N=110
n (%)
P-value
Number of family members of the patient with cancer:
Least important
Somewhat important/important
Very important/most important
18 (8.6)
49 (23.3)
143 (68.1)
7 (7.0)
26 (26.0)
67 (67.0)
11 (10.0)
23 (20.9)
76 (69.1)
0.558
Presence of a known mutation in the family member of the patient:
Least important
Somewhat important/important
Very important/most important
7 (3.3)
44 (21.0)
159 (75.7)
3 (3.0)
17 (17.0)
80 (80.0)
4 (3.6)
27 (24.5)
79 (71.8)
0.374
Age of onset of cancer in the family member(s):
Least important
Somewhat important/important
Very important/most important
10 (4.8)
59 (28.1)
141 (67.1)
4 (4.0)
29 (29.0)
67 (67.0)
6 (5.5)
30 (27.3)
74 (67.3)
0.865
The patient’s request:
Least important
Somewhat important/important
Very important/most important
23 (11.0)
79 (37.6)
108 (51.4)
8 (8.0)
36 (36.0)
56 (56.0)
15 (13.6)
43 (39.1)
52 (47.3)
0.297
Features of the patient’s disease (e.g., triple negative breast cancer or multiple colorectal polyps):
Least important
Somewhat important/important
Very important/most important
14 (6.7)
56 (26.7)
140 (66.7)
8 (8.0)
29 (29.0)
63 (63.0)
6 (5.5)
27 (24.5)
77 (70.0)
0.526
Impact on further treatment or surveillance:
Least important
Somewhat important/important
Very important/most important
6 (2.9)
53 (25.2)
151 (71.9)
3 (3.0)
28 (28.0)
69 (69.0)
3 (2.7)
25 (22.7)
82 (74.5)
0.666
Genetic tests for cancer increase the chances of prevention opportunities and early intervention:
Agree
Uncertain
Disagree
188 (89.5)
19 (9.0)
3 (1.4)
89 (89.0)
9 (9.0)
2 (2.0)
99 (90.0)
10 (9.1)
1 (0.9)
0.799
Research in cancer genetics will lead to significant improvements in the treatment of cancer:
Agree
Uncertain
Disagree
180 (85.7)
19 (13.8)
1 (0.5)
84 (84.0)
16 (16.0)
0
96 (87.3)
13 (11.8)
1 (0.9)
0.364
Genetic tests that can identify an increased risk of developing cancer should not be performed even if
there are no preventive and/or curative interventions of proven efficacy:
Agree
Uncertain
Disagree
109 (51.9)
71 (33.8)
30 (14.3)
45 (45.0)
41 (41.0)
14 (14.0)
64 (58.2)
30 (27.3)
16 (14.5)
0.096
Genetic tests for cancer should be performed only if economical evaluations show cost-effectiveness
ratios favorable compared to alternative health interventions:
Agree
Uncertain
Disagree
118 (56.2)
67 (31.9)
25 (11.9)
61 (61.0)
27 (27.0)
12 (12.0)
57 (51.8)
40 (26.4)
13 (11.8)
0.328
Authoritative and evidence-based guidelines are required for the appropriate use of genetic tests for dif-
ferent cancers:
Agree
Uncertain
Disagree
183 (87.1)
20 (9.5)
7 (3.3)
89 (89.0)
7 (7.0)
4 (4.0)
94 (85.5)
13 (11.8)
3 (2.7)
0.442
Predictive cancer genetic testing should not be performed without genetic counseling and informing
patients of the benefits and risks of the tests:
Agree
Uncertain
Disagree
100 (47.6)
51 (24.3)
59 (28.1)
42 (42.0)
27 (27.0)
31 (31.0)
58 (52.7)
24 (21.8)
28 (25.5)
0.298
6. 342 Journal of Community Genetics (2023) 14:337–344
1 3
linchpin to ensuring that these testing techniques are appro-
priately incorporated into the healthcare system. This study
was conducted to determine the knowledge, attitude, and
behaviors of doctors in Pakistan regarding CGT. Our cross-
sectional study reports that most health professionals have an
inadequate understanding of cancer genetics and feel unquali-
fied to counsel and prescribe genetic tests. Despite this, many
recognize the importance of learning these testing modalities
and to utilize them in their practice, which is encouraging.
There were few significant differences found in
responses between public and private sectors. However,
respondents from public hospitals felt more confident than
their private counterparts in interpreting (P = 0.020) and
counseling (P = 0.021) a patient regarding genetic testing.
In Pakistan, public hospitals cater to the many patients
who are unable to afford private care, allowing providers
working in public sectors to see a greater array of cases
and diseases. This may have contributed to a greater
Table 3 (continued) Variable Total; N=210
n (%)
Private; N=100
n (%)
Public; N=110
n (%)
P-value
Genetic tests can contribute efficaciously to health promotion and cancer prevention, especially at a larger
scale considering the other available health interventions:
Agree
Uncertain
Disagree
159 (75.7)
45 (21.4)
6 (2.9)
76 (76.0)
22 (22.0)
2 (2.0)
83 (75.5)
23 (20.9)
4 (3.6)
0.766
The implementation of genetic tests for cancer, being a medical matter, should still consider ethical, legal,
and social implications:
Agree
Uncertain
Disagree
85 (40.5)
41 (19.5)
84 (40.0)
43 (43.0)
21 (21.0)
36 (36.0)
42 (38.2)
20 (18.2)
48 (43.6)
0.528
Genetic testing will enhance willingness of individuals at risk for cancer to undergo surveillance/prophy-
lactic surgery:
Agree
Uncertain
Disagree
160 (76.2)
42 (20.0)
8 (3.8)
72 (72.0)
22 (22.0)
6 (6.0)
88 (80.0)
20 (18.2)
2 (1.8)
0.191
If a cancer genetic test result does not only have consequences for the individual tested, but also their
families, then patient confidentiality is at risk:
Agree
Uncertain
Disagree
37 (17.6)
57 (27.1)
116 (55.2)
18 (18.0)
26 (26.0)
56 (56.0)
19 (17.3)
31 (28.2)
60 (54.5)
0.938
Findings of a pathogenic mutation in a cancer genetics test can induce psychological distress and affect
mental health overall, therefore causing more harm than good:
Agree
Uncertain
Disagree
89 (42.4)
72 (34.3)
49 (23.3)
45 (45.0)
31 (31.0)
24 (24.0)
44 (40.0)
41 (37.3)
25 (22.7)
0.623
Perception:
Good
Fair
Poor
116 (55.2)
94 (44.8)
0
53 (53.0)
47 (47.0)
0
63 (57.3)
47 (42.7)
0
0.444
Total perception score 25.8±3.85 25.9±4.01 25.8±3.71 0.938
Table 4 Participant responses to priority of interventions to finance
Variable Total; N=210
n (%)
Private; N=100
n (%)
Public; N=110
n (%)
P-value
If you could allocate money to cancer in the health care system, what would be your top priority to finance? 0.241
Screening tests for specific cancers, e.g., mammography every other year in
women over 50
100 (47.6%) 55 (55.0%) 45 (40.9%)
Measures to develop cancer genetics (research, recruitment of appropriately
trained personnel or surveillance and risk reduction measures)
69 (32.9%) 28 (28.0%) 41 (37.3%)
Development of new substances and therapy protocols 26 (12.4%) 11 (11.0%) 15 (13.6%)
Evaluation of new combination therapies and complementary medicine 15 (7.1%) 6 (6.0%) 9 (8.2%)
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Journal of Community Genetics (2023) 14:337–344
1 3
confidence in dealing with patients with genetic analysis
requirements (Kurji et al. 2016).
Out of our respondents, 55.2% were seen to have posi-
tive attitudes towards CGT, giving hope that many will be
receptive towards changes made to implement CGT in prac-
tical care. This is strengthened by the report of Ashfaq et al.,
which similarly concluded that Pakistani physicians were
receptive to the inclusion of genetic services in healthcare
(Ashfaq et al. 2013). Approximately 63% of physicians in
our survey admitted there was a strong need to increase their
own understanding of genetic testing in their clinical prac-
tice. Additionally, most HCPs endorsed the need for post-
graduate courses on CGT. This attitude is consistent with
other studies that have also reported on the eagerness of
healthcare professionals to attend courses on genetic testing
(Marzuillo et al. 2013; Panic et al. 2014; Klitzman et al.
2013). An overwhelming majority of physicians in both
public and private sectors did not receive any sort of cancer
genetic training in either medical school or residency/CME
courses. Several studies have previously identified a gap in
the knowledge among physicians on CGT (Acton et al. 2000;
Hann et al. 2017; Nippert et al. 2011; Heena et al. 2019;
Baars et al. 2005); however, after an exhaustive literature
search, no such study has been conducted in Pakistan, to
the best of our knowledge. Primary care physicians who are
non-experts in genetics are usually the first professionals to
encounter patients with a possible need for genetic testing,
and it is essential that competency is adequate to recognize
these cases (Nippert et al. 2011). Therefore, high-quality
genomic courses must be developed to ensure these gaps in
knowledge are addressed.
In our study, a majority of HCPs from both public
(51.8%) and private sector (61.0%) were in a consensus that
CGT should be performed only if economical evaluations
show cost-effectiveness ratios favorable compared to alterna-
tive health interventions. This is a favorable response, since
in low-resource settings such as Pakistan, it is imperative
to ensure that tests are ordered in a cost-effective manner,
dictated by the patients’ needs and individual risk (Kurji
et al. 2016). Two cross-sectional studies conducted in Italy
reported a lack of cost-conscious behavior regarding CGT
amongst residents and physicians respectively (Marzuillo
et al. 2013; Panic et al. 2014). In a lower-middle-income
country like Pakistan, CGT availability is limited and expen-
sive. Furthermore, 70% of the population is dependent on
out-of-pocket expenditure (Ashfaq et al. 2013). Consider-
ing the majority of our population belongs to a low socio-
economic stratum (Kurji et al. 2016), we recommend that
healthcare professionals should be trained on cost-conscious
strategies, optimizing CGT for underprivileged patients.
There were a number of potential limitations in our
study that must be noted. Inherent limitations of a cross-
sectional study are present, such as missing data and a
wide disparity which would not merit any meaningful anal-
ysis. Additionally, our sample size was small (N=210), so
external validity may be affected as a result. Subjectivity
of physician training, self-awareness, and confidence in
interpretation of genetic testing would likely have played
a role in the clinical decision-making and delivery of care
for their patients. While one strength of our study is that
it was carried out at two institutions, large multi-center
studies should be developed to determine the burden of
suboptimal CTG referral in Pakistan. House officers and
interns were not included in this study—we urge for fur-
ther research for an insight into these demographics, with a
focus on development of training programs/courses about
CGT so physicians can hone their clinical acumen regard-
ing CGT early in their career.
Conclusion
In conclusion, Pakistani doctors are deficient in knowledge
pertaining to cancer genetics, and our data supports the need
for additional training in the field of genetic testing. Surveys
may be conducted to identify specific objectives healthcare
professionals may be less knowledgeable about. These defi-
cient areas can be used to develop specific post-graduate
training programs targeted to promote the incorporation of
cancer genetic testing in healthcare settings. Future studies
may be conducted analyzing the efficacy of such programs
in improving CGT practices.
Supplementary Information The online version contains supplemen-
tary material available at https://doi.org/10.1007/s12687-023-00650-2.
Author contribution Authors S.S, M.N, M.R, Z.N, W.A, M.D.M, A.Z,
A.S.S, M.B.M, M.N, S.K, R.I, A.I, and M.I confirm that they had
full access to all the data in the study and take responsibility for the
integrity of the data and the accuracy of the data analysis. All of the
authors gave final approval of this version to be published and agree
to be accountable for all aspects of the work in ensuring that questions
related to the accuracy or integrity of any part of the work are appro-
priately investigated and resolved.
Data availability The datasets used and/or analyzed during the cur-
rent study are available from the corresponding author on reasonable
request.
Declarations
Competing interests The authors declare no competing interests.
Human studies and informed consent Approval was obtained from the
Institutional Review Board of JPMC on
12th
March 2022. All methods
were carried out in accordance with relevant institutional guidelines
and recommendations. Informed consent was taken from all subjects
involved in our study.
Conflict of interest The authors declare no competing interests.
8. 344 Journal of Community Genetics (2023) 14:337–344
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References
Acton RT, Burst NM, Casebeer L, Ferguson SM, Greene P, Laird BL, et al.
(2000) Knowledge, attitudes, and behaviors of Alabama’s primary
care physicians regarding cancer genetics. Academic Medicine. 75(8)
Ashfaq M, Amanullah F, Ashfaq A, Ormond KE (2013) The views of
Pakistani doctors regarding genetic counseling services – is there
a future? J Genet Couns 22(6):721–732
Baars MJH, Henneman L, ten Kate LP (2005) Deficiency of knowledge of
genetics and genetic tests among general practitioners, gynecologists,
and pediatricians: a global problem. Genet Med 7(9):605–610
Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, et al.
(2011) Genetic testing and common disorders in a public health
framework: how to assess relevance and possibilities. Background
Document to the ESHG recommendations on genetic testing and
common disorders. Eur J Hum Genet. 19 Suppl:S6–44.
Cancer Fact Sheet: World Health Organization. Available from: https://
www.who.int/news-room/fact-sheets/detail/cancer.
Cancer: World Health Organization; [July 3 2022]. Available from:
https://www.who.int/health-topics/cancer#tab=tab_1.
Feero WG, Green ED (2011) Genomics education for health care pro-
fessionals in the 21st century. JAMA 306(9):989–990
Hann KEJ, Fraser L, Side L, Gessler S, Waller J, Sanderson SC et al
(2017) Health care professionals’ attitudes towards population-
based genetic testing and risk-stratification for ovarian cancer: a
cross-sectional survey. BMC Womens Health 17(1):132
Heena H, Durrani S, Riaz M, AlFayyad I, Tabasim R, Parvez G et al
(2019) Knowledge, attitudes, and practices related to breast cancer
screening among female health care professionals: a cross sec-
tional study. BMC Womens Health 19(1):122
Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M
et al (2013) Attitudes and practices among internists concerning
genetic testing. J Genet Couns 22(1):90–100
Kurji Z, Premani ZS, Mithani Y (2016) Analysis of the health care
system of Pakistan: lessons learnt and way forward. J Ayub Med
College Abbottabad : JAMC 28(3):601–604
Lindor NM, Greene MH, Mayo Familial Cancer P (1998) The concise
handbook of family cancer syndromes. JNCI: J Nat Cancer Inst
90(14):1039–71
Marzuillo C, De Vito C, Boccia S, D’Addario M, D’Andrea E, Santini
P et al (2013) Knowledge, attitudes and behavior of physicians
regarding predictive genetic tests for breast and colorectal cancer.
Prev Med 57(5):477–482
Nippert I, Harris HJ, Julian-Reynier C, Kristoffersson U, ten Kate
LP, Anionwu E et al (2011) Confidence of primary care physi-
cians in their ability to carry out basic medical genetic tasks—a
European survey in five countries—Part 1. J Community Genet
2(1):1–11
Offit K, Brown K (1994) Quantitating familial cancer risk: a resource
for clinical oncologists. J Clin Oncol 12(8):1724–1736
Pakistan Fact Sheet: World Health Organization; Source: Globocan
2020. Available from: https://gco.iarc.fr/today/data/factsheets/
populations/586-pakistan-fact-sheets.pdf.
Panic N, Leoncini E, Di Giannantonio P, Simone B, Silenzi A, Ferriero
AM et al (2014) Survey on knowledge, attitudes, and training
needs of Italian residents on genetic tests for hereditary breast and
colorectal cancer. Biomed Res Int 2014:418416
PDQ® Cancer Genetics Editorial Board. PDQ cancer genetics over-
view: Bethesda, MD: National Cancer Institute. Available from:
https://www.cancer.gov/about-cancer/causes-prevention/genetics/
overview-pdq.
Pichert G, Dietrich D, Moosmann P, Zwahlen M, Stahel RA, Sappino
A-P (2003) Swiss primary care physicians’ knowledge, attitudes
and perception towards genetic testing for hereditary breast can-
cer. Fam Cancer 2(3):153–158
Sándor J (2018) Genetic testing between private and public interests:
some legal and ethical reflections. Front Public Health. 6
The L (2011) Physicians as guardians of genetic knowledge. The Lan-
cet 377(9770):967
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Authors and Affiliations
Shameel Shafqat1
· Masooma Naseem2
· Masooma Rana1
· Zehra Naseem1
· Warda Ahmed1
·
Muhammad Daniyal Musharraf1
· Arisha Zaheer3
· Ahmed Safiullah Shaikh3
· Muhammad Bazil Musharraf1
·
Mahnoor Niaz1
· Saifullah Khan1
· Rabiya Irfan3
· Areeba Imran3
· Zahid Mehmood4
* Zahid Mehmood
drzmpk@yahoo.com
1
Medical College, The Aga Khan University, Karachi,
Pakistan
2
Medical College, Ziauddin University, Karachi, Pakistan
3
Liaquat National Hospital and Medical College, Karachi,
Pakistan
4
Jinnah Postgraduate Medical Centre, Karachi, Pakistan
![Vol.:(0123456789)
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Journal of Community Genetics (2023) 14:337–344
https://doi.org/10.1007/s12687-023-00650-2
RESEARCH
Knowledge, attitude, and perceptions about cancer genetic testing
in clinical practice in Karachi, Pakistan
Shameel Shafqat1
· Masooma Naseem2
· Masooma Rana1
· Zehra Naseem1
· Warda Ahmed1
·
Muhammad Daniyal Musharraf1
· Arisha Zaheer3
· Ahmed Safiullah Shaikh3
· Muhammad Bazil Musharraf1
·
Mahnoor Niaz1
· Saifullah Khan1
· Rabiya Irfan3
· Areeba Imran3
· Zahid Mehmood4
Received: 3 October 2022 / Accepted: 28 April 2023 / Published online: 5 May 2023
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023
Abstract
Healthcare professionals (HCP) play an important role in the practical application of genetic screening tests but often feel
inadequately prepared for cancer genetic testing (CGT) in clinical care. As the complexity of gene-related malignancies
increases, it demands HCPs’ preparedness to cater to patients’ needs. Therefore, the aim of our study is to assess the knowl-
edge, attitude, and practices of HCPs in Pakistan regarding the application of cancer genetics. Our cross-sectional survey
was conducted from April 2022 to June 2022 amongst HCPs at a private and a governmental institution in Karachi, Pakistan.
Non-probability random convenience sampling was used to select the population; however. non-clinical HCPs, as well as
Interns, were excluded from our study. A total of 210 HCPs, 56.7% (119) bearing an experience of over 5 years of clinical
experience, were included in this study. Most respondents from both hospitals deemed their knowledge inadequate, with only
2% (2) and 1.8% (2) being extremely knowledgeable, respectively. 68.6% (144) HCPs displayed a positive attitude towards
CGT, with 55.2% (116) participants perceiving CGT in a positive light. As compared to the private sector, significantly
more HCPs in the public sector dedicated≥5 h/week for CME (P=0.006), and were better prepared to counsel patients
(P=0.021) and interpret results concerning CGT (P=0.020). Additionally, screening tests for specific cancer types were
popularly considered a worthwhile avenue of investment to improve the current state of CGT in our healthcare system [47.6%
(N=100)]. Demonstrating a lack of knowledge among Pakistani doctors, our results call upon the need for additional training
concerning CGT in both the public and private sectors alike. Understanding specific gaps in knowledge may further help
enhance post-graduate training programs and eventually lead to effective incorporation of CGT into our healthcare setting.
Keywords Genetic counseling · Genetic literacy · Genetic testing · Knowledge · Attitudes · Health literacy
Introduction
Cancer is the second leading global cause of death (Can-
cer: World Health Organization 2022). According to the
World Health Organization’s (WHO) report in 2020, cancer
accounted for nearly 20 million deaths, with leading incidence
from breast cancer (2.26 million cases), and lung cancer as
the leading cause of death (1.80 million deaths) (Cancer Fact
Sheet: World Health Organization 2022). In Pakistan, the esti-
mated incidence of cancer is 0.17 million, with mortality at
0.12 million (). According to the WHO, abstaining from risk
factors and following preventative strategies can reduce cancer
burden by 30–50%. Furthermore, early detection and treatment
of a developing neoplasm can lead to an increased reduction in
the number of cancer-related deaths (PDQ® Cancer Genetics
Editorial Board 2022).
What is known about this topic: The estimated incidence of cancer
in Pakistan is 0.17 million, with mortality at 0.12 million. While
early detection and treatment of a developing neoplasm can improve
prognosis, no evident survey to date has been conducted in Pakistan
to assess the utilization of currently available CGTs and counseling
strategies amongst HCPs.
What this paper adds to the topic: In this paper, we assess the
knowledge, attitude, and perception of HCPs in Karachi, Pakistan,
regarding the application of cancer genetics, such as routine genetic
screening tests and counseling in clinical practice. Pakistani
doctors were found to be deficient in knowledge regarding CGT
and our results thus support the need for additional training in this
regard along with more targeted research to help identify specific
knowledge gaps.
Shameel Shafqat and Masooma Naseem should be considered joint
first author.
Extended author information available on the last page of the article](https://image.slidesharecdn.com/126872023article650-240323015410-1540e80b/85/knoledge-attitude-perception-about-genetic-1-320.jpg)
