Wonkam 2006
Wonkam 2006
Wonkam 2006
6 article
With the publication of the sequence of the human genome, In general, disease prevention relies heavily on education of
medicine is in the midst of a revolution as new disease-related health professionals.5,4 Given the broad medical applications
genes are being identified at a rapid rate.1 However, many sci- of molecular genetics, healthcare practitioners will have to
entists who are interested in the potential of genetic knowledge become more involved in providing patient information
to improve health and to promote equity are concerned that about genetic testing, guide patients to a clinical genetic
the commercial development of genomics will widen the gap service, and deal with the consequences of patients’ choices
between the developed and the developing world.2 The recent when tested.6
World Health Organization (WHO) publication Genomics and Little is known about physicians’ knowledge of, and atti-
World Health (2002) recognizes this concern.3 tudes toward genetics or their awareness of the availability
The most effective application of genetic knowledge is for of tests for genetic disorders in sub-Saharan Africa. Further-
early diagnosis and prevention. As prevention is a priority for more, medical students represent the future leaders on
the developing world, an effective means of bridging the gap
medical issues in their communities, thus their knowledge
between developed and developing countries would be there-
and attitudes may influence how entire communities accept
fore to introduce preventive genetic methods in developing
medical genetics.7 Cameroon is a sub-Saharan African coun-
countries, an appropriate point of entry for DNA technology.4
try with a population of about 15 million but with no clinical
Nevertheless, scientists in both developed and developing
genetics service. We focused on four genetic disorders: sickle
countries, who are concerned about bridging the gap in genetic
services, need to be aware of factors that could interfere with an cell anemia (SCA), Down’s syndrome (DS), hemophilia
objective vision of the specific needs of developing countries. (Hem), and Huntington’s disease (HD), which we considered
representative to examine the knowledge trends of medical
students and physicians concerning medical genetics. We also
From the Department of Genetic Medicine and Development, Geneva University Hospitals, examined their attitude toward using genetic counseling ser-
Geneva, Switzerland, and Faculty of Medicine and Biomedical Sciences, University of
Yaoundé I, Yaoundé, Cameroon.
vices, prenatal diagnosis and termination of affected preg-
Dr Ambroise Wonkam, MD, Department of Genetic Medicine and Development, Geneva
nancy. This latter point is consistent with the goal of the
University Hospitals, Rue Michel-Servet1, CH 1211, Geneva 4, Switzerland. World health Organization in its process of consultations to
Submitted for publication August 28, 2005. develop, especially in developing countries, an agenda in the
Accepted for publication March 14, 2006. area of Ethical, Legal and Social Implications (ELSI) of
DOI: 10.1097/01.gim.0000223542.97262.21 Genomic Research.3
METHODS Table 1
Respondents’ demographic characteristics
Study sample
% Pre-
We used the opportunity of the 20th Cameroon National clinical % Clinical
Medical Conference in 2002, an annual scientific congress for medical medical
students students % Physicians
postgraduate continuing medical education, to randomly (N ⫽ 101) (N ⫽ 95) (N ⫽ 110) P-values
sample physicians irrespective of their practice location or
Mean age (years) 21.5 ⫾ 0.4a 23.7 ⫾ 0.6a 34.7 ⫾ 0.8a 0.001
specialties. Before administering the survey questionnaire at
the reception desk of the medical conference, an introductory Sex: Male 64.4 65.2 81.1 0.01b
explanation stated the purpose of the survey: to assess knowl- Practice Location 0.001
edge of, and attitudes to medical genetics in the medical com- University/Central 76.5
munity of Cameroon. The completed questionnaires were Hospital
collected at the end of the each of the three days of the confer- Peripheral hospital 33.3
ence. The response rate was 36.7% (110/300).
Religion NS
For medical students, the questionnaires were distributed in
the amphitheatres and collected one hour later, in order to reduce Catholic 52.6 48.8 54.4
bias due to readable information from textbooks that might have Protestant 37.9 44 34
affected the knowledge evaluation. The response rate was 50.5% Muslim 7.4 6 1.9
(101/200) for pre-clinical and 47.5% (95/200) for clinical medical
Traditional 0 0 4.9
students. A unique sample format was used for medical students
and physicians. Respondents’ anonymity was respected. No religion 2.1 0 4.9
Others 0 1.2 0
Survey format a
Number of years.
The survey questionnaire comprised three categories of b
P-value when comparing physicians to medical students.
questions: Socio-demographic characteristics, medical genet- NS, not significant.
ics knowledge, and potential use of a clinical genetics service.
Medical genetics knowledge: The respondent was asked to 110 physicians. Respondents were predominantly male. The
spontaneously write down three genetic diseases. Furthermore, majority in the physician group was under 40 years of age (Ta-
for the four genetic diseases (SCA, DS, Hem, and HD) that we ble 1) and identified themselves as general practitioners (GP):
considered relevant in medical genetic practice, questions were 42.6% (46/108). The distribution of other medical specialties
asked on etiology, symptoms and signs, diagnosis and treatment was uneven: Gynecologist and obstetricians or residents in gy-
options, inheritance, and evaluation of the degree of seriousness. necology 13.9% (15/108) and surgery 13.9% (15/108) were the
Questions were all open-ended except for inheritance (multiple- most represented groups.
choice questions). In the present article we focus on the evaluation
of etiology, mode of inheritance and diagnostic methods. Genetic disease in respondents’ families
Potential use of a clinical genetics service: The questions Twenty-one, 26.3, and 22.2%, respectively, of pre-clinical
included, awareness and attitudes toward genetic counseling and clinical medical students and physicians indicated to have
and testing, attitudes toward prenatal diagnosis and termina- at least one family member suffering from a genetic disease.
tion of affected pregnancy (or medical abortion), specifically These diseases included: SCA: 13.5% (41/303), DS: 3.3% (10/
“if the respondent’s own child was affected” by a “serious mal- 303), oculocutaneous albinism: 3% (9/303).
formation,” DS or SCA. At least one case of congenital malformation was said to be
Two clinical geneticists from the Division of Medical Genetics of present in 9.3% (N ⫽ 101); 11.4% (N ⫽ 88) and 16.2% (N ⫽
the University of Geneva Medical School critically reviewed the ques- 105) of medical students’ and physicians’ families. Limb and
tions. The pre-tested questionnaires took approximately 40 minutes finger malformations were the most prevalent at 7.3% (22/
to complete. The survey instrument is available upon request. 302), followed by congenital cardiac malformations (5/302),
and digestive tract malformations (4/302).
Statistical analysis
Genetic education and knowledge trends of four genetic diseases
Data were analyzed using SPSS (Statistical Package for Social
(SCA, DS, Hem, HD)
Sciences, Chicago, IL). Means were compared using non-para-
metric tests. The P-values were considered significant if they To the question “Can you cite spontaneously three genetic
reached the 95% significance level. diseases?” respondents cited a range of 85 different genetic
diseases. Three hemoglobinopathies were cited among the top
10 diseases (Table 2).
RESULTS
Awareness of SCA and DS was higher than of that hemo-
The sample population philia. Awareness of Huntington’s disease was poor. Surpris-
Three hundred six of 700 questionnaires were completed ingly, physicians’ knowledge trends were not so different from
and included 101 pre-clinical, 95 clinical medical students and those of medical students (Table 3).
Table 3
Evaluation of the best genetics knowledge trends about SCD, DS, Hem and HDa
Disease (Etiology, Diagnosis Mean, Pre-clinical medical Clinical medical
Mode of Inheritance) students % (N) students % (N) Physicians % (N) P-values
SCD
Glu6Val -globin gene mutation 29.7 (27/91) 36.2 (34/94) 46 (46/100) 0.001b
DNA diagnosis 0 (0/67) 2.2 (2/90) 1.2 (2/106) 0.01b
Autosomal recessive 69.6 (64/92) 81.3 (74/91) 75.2 (76/101) NS
DS
3 Chromosome 21 84.4 (65/77) 67.5 (56/83) 52.6 (51/97) 0.001c
Karyotype analysis 72.1 (31/43) 78.3 (54/69) 80.4 (74/92) NS
Non-mendelian 39.2 (29/74) 46.2 (30/65) 29.8 (28/94) NS
Hem
Mutation hemophilic factors genes A or B 0 (0/78) 9.3 (8/86) 2.1 (2/96) NS
DNA diagnosis 3.1 (1/32) 5.4 (4/74) 4.5 (4/89) NS
X-linked 65.8 (50/76) 67.1 (53/79) 65 (65/100) NS
HD
Genetic mutation No data 12.5 (1/8) 13 (3/23) NS
DNA diagnosis No data 0 (0/5) 4.2 (1/23) NS
Autosomal dominant No data 50 (4/8) 41.4 (12/29) NS
a
SCD, sickle cell disease; DS, Down’s syndrome; Hem, hemophilia; HD, Huntington’s disease.
b
P-values not significant when comparing clinical medical student and physicians.
c
P-values not significant when comparing pre-clinical and clinical medical students.
Fig. 1. Attitude toward the necessity of a genetic service with prenatal diagnosis. This cohort of students and doctors appears to accept in a great majority the principles of clinical genetics
involving counseling (A), prenatal diagnosis (B) and in some cases termination of affected pregnancy (termination of affected pregnancy) (C). The acceptance of the principle of termination
of affected pregnancy increases with the level of medical education (P ⬍ 0.001).
Very few respondents “had any direct or indirect contact” The acceptance in principle of termination of affected preg-
with karyotype analysis: 9.1% (9/99), 1.1% (1/90), and 5.7% nancy “if the respondent’s own child” was affected by a “seri-
(60/105), or DNA testing: 3.0% (3/99), 1.1% (1/90) and 0% ous” malformation; DS or SCA was higher in the physicians’
(0/105), respectively. than in students’ groups (Fig. 2B).
Attitudes to prenatal diagnosis and termination of pregnancy The paradox between perception of seriousness and attitude to
The majority of the respondents accepted the principle of termination of affected pregnancy for SCA and DS
prenatal diagnosis and the principle of termination of affected SCA was considered as a “serious disease” by the greater
pregnancy (Fig. 1). Acceptance for termination of affected majority of respondents and DS as “serious” by a lower pro-
pregnancy increased with the level of medical education (P ⬍ portion (P ⬍ 0.001): 96 versus 64.6%, 97.8 versus 80.8% and
0.001) (Fig. 1C). The acceptance of the principle of prenatal 94.4 versus 88%. But, in all three groups, the acceptance of
diagnosis varied with specific disease (Fig. 2A). termination of affected pregnancies “if the respondent own
The acceptance of termination of affected pregnancy “if child was affected” was lower for SCA than DS (P ⬍ 0.001):
the respondent’s own child” was affected by a “serious” mal- 22.4 versus 40.2%, 10.8 versus 29.3% and 36.1 versus 70.4%
formation, DS or SCA was in the three groups lower than respectively (Fig. 2C).
that of the principles of prenatal diagnosis (P ⬍ 0.001) or Attitudes to prenatal diagnosis and medical abortions were
the general principle of termination of affected pregnancy neither influenced by a positive history of genetic disease in the
(P ⬍ 0.001) (Fig. 2B). family, nor religion, nor gender.
Fig. 2. Differential attitudes toward prenatal diagnosis and medical abortion among medical students and physicians. (A) The proportion profile of “yes” for prenatal diagnosis. The
acceptance of prenatal diagnosis varied with specific diseases. The acceptance of this principle tends to increase with medical education. Pre-clinical medical students accepted the principle
of prenatal diagnosis of SCA in a greater proportion than clinical medical students. (B) The proportion profile of “yes” to medical abortion “if the respondent’s own child was affected.” The
acceptance of the principle of medical abortion significantly decreased “if the respondent’s own child was affected” respectively with “serious malformation,” DS and in the lowest
proportion, SCA (P ⬍ 0001). The acceptance of termination of pregnancies “if the respondent’s own child was affected” was greater in the group of physicians (P ⬍ 0.01). As compared to
clinical medical students, pre-clinical students in a greater proportion significantly accepted the principle of medical abortion for DS and SCA (P ⬍ 0.01). (C) Perception of seriousness of
DS and SCA compared to attitudes toward termination of pregnancy, “if the respondent’s own child was affected.” SCA was defined in as “serious” disease by the great majority of
respondents and DS as “serious” by a lower proportion (P ⬍ 0.001). Paradoxically, in all three groups, the acceptance of termination of affected pregnancies “if the respondent’s own child
was affected” was lower for SCA than DS (P ⬍ 0.001).
oped countries also demonstrate deficiencies in primary care phy- is not sufficient consensus among experienced genetics profes-
sician knowledge of genetic and related practice skills.17,18,19 sionals to define serious genetic conditions for purposes of law
Mountcastle-Sha and Holzman postulated that, primary care or policy: 46% of conditions listed as serious were also listed as
physicians’ participation in clinical research could present a not serious and 41% were listed as lethal.10 The main reasons
teachable moment leading to both improvement of genetic for the perception of seriousness of DS and SCA need to be
knowledge and appropriate practice.20 Transferring genetic further analyzed in our cohort: the burden of handicap in DS as
technology in lower-resource countries may not only offer ex- compared to that of SCA may be determinant, or the respon-
citing research opportunities,4 more importantly, physicians dent’s personal experience with a relative or a friend affected
who participate in genetic research may constitute a core group with SCA, which is prevalent in the respondents families and in
of educational influence within their communities.21 Small- the general population, or the fact that these well informed
scale efforts comparable to Geneva-Yaoundé cooperation students and physicians may have taken into account, the
which contribute to train a Cameroonian medical geneticist, progress in pathogenesis and treatment of SCA.25 To some
could serve as a useful model for universities with an interest in extent, this attitude can be compared to that of Nigerian
contributing to education in poorer nations.22 In 2003, the SCA female patients, who in more than 85%, would like
African Society of Human Genetics (AfSHG) was established. prenatal diagnosis to be offered in Nigeria, but only 35%
The aim of AfSHG is to equip the African scientific community would opt for termination of an affected pregnancy.26 Simi-
and policy-makers with the information and practical knowl- larly, 78% of educated Nigerians would want prenatal diagno-
edge needed to contribute to the field of genetics research and sis started in Nigeria and only 45% would opt for termination
to attract global attention to the efforts of African scientists.23 of affected pregnancy.27 Although we do know that what peo-
The strong positive views of physicians on the role of genetic ple say they would do before the fact does not always predict
counseling, prenatal diagnosis and medical abortion, may be what they actually choose to do when faced with a real decision,
linked to their experience with affected patients and the psy- an evaluation of these attitudes might still give us an idea on
cho-social or economic impacts of several genetic conditions how to initiate policy.
on families. In a similar study in Sri Lanka, demographic and
We need more information on whether the attitudes of
experiential factors were associated with an increased accep-
medical students and doctors are comparable to that of
tance of the principle of prenatal diagnosis and termination of
some specific groups in the population like mothers and
affected pregnancy.24 In a recent study, a vast majority of Afri-
fathers with a SCD affected child. In addition, focus group
can-American pre-clinical medical students supported genetic
studies might give a more detailed insight into the range of
testing for preventive care (95%). However, several concerns
moral, legal and social concerns that the lay public holds
were expressed, including fears that abortion (51%), and eu-
about genetic technology.5 Pre-clinical medical students
genics (37%) will become more common. These concerns were
may draw an initial view from that of the educated group in
increased, not lessened, by exposure to genetics education.7 In our
study comparing pre-clinical medical students, a significantly the general population.7 Respondents are mostly below 40,
lower proportion of clinical students accepted the termination thus most likely to be energetic and adaptable, and will be the
of affected DS and SCA pregnancy. Although, African-American decision-makers and teachers of the next 30 years. Investing
and Cameroonian medical students are not absolutely compa- now in their medical genetics education and research skills will
rable in terms of the medical curriculum or socio-economic influence the scientific potential for generations to come. An
environment, to some extent, one can suspect a similar histor- evaluation of the number of published scientific papers from
ical and cultural background to explain sensitivity to ethical 1997–2001 from sub-Saharan African countries, ranked the
concerns of preventive genetics testing. It is possible that the Republic of Cameroon fifth.28 This could be considered a pos-
Cameroonian clinical medical students were sensitized in itive background for introducing a challenging field like med-
medical school and recognize the actual benefits of medical ical genetics to the country.
care and the ethical principles that guide clinical practice, but In conclusion, the results suggest an acceptable level of
they have a limited clinical and practice experience when com- knowledge of clinical genetics although the awareness of DNA
pared to MDs. diagnosis seems poor. This cohort of students and doctors ap-
An unexpected finding of the present study was that SCA pears to accept the principles of clinical genetics involving
was considered out of the three groups a “serious” disease by counseling, prenatal diagnosis and in some cases termination
the great majority of respondents, and DS as “serious” by a of pregnancy. Given the high level of acceptance of prenatal
lower proportion. Paradoxically, in all the three groups, the diagnosis, a paradox exists between the lower acceptance of
acceptance of termination of affected pregnancies was lower medical abortion for SCA, perceived as a severe disorder, and
for SCA than DS. The finding contrasted with the relatively the greater acceptance of medical abortion for DS, which was
high proportion of acceptance of the principle of prenatal di- perceived as a less severe condition. This emphasizes a need to
agnosis for SCA. The words “serious” and “grave” appear close develop medical research, and later research on ethics, social
to the word genetic in many US state laws, as criteria for avail- implications of medical genetics in this part of sub-Saharan
ability or support of genetics services, including prenatal diag- Africa. Greater emphasis is needed at all levels of medical edu-
nosis and abortion.10 Wertz and Knoppers showed that, there cation to improve medical school courses in genetics, with the
aim of optimizing the knowledge level of physicians as more 13. Stevens G, Ramsay M, Jenkins T. Oculocutaneous albinism (OCA2) in sub-Saharan
Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum Genet
genetic tests become available. 1997;99:523–527.
14. Ogamdi SO, Onwe F. A pilot study comparing the level of sickle cell disease knowl-
ACKNOWLEDGMENTS edge in a university in southeastern Texas and a university in Enugu, Enugu State,
For their input, we thank the medical students and doctors Nigeria, West Africa. Ethn Dis 2000;10:232–236.
15. Akinyanju OO, Disu RF, Akinde JA, et al. Initiation of prenatal diagnosis of sickle-
who participated in the survey. We also thank the Division of cell disorders in Africa. Prenat Diagn 1999;19:299–304.
Medical Genetics, University Medical Centre and Geneva Uni- 16. Kagu MB, Abjah UA, Ahmed SG. Awareness and acceptability of prenatal diagnosis
versity Hospital, the Cameroon National Medical Conference of sickle cell anaemia among health professionals and students in North Eastern
Nigeria. Niger J Med 2004;13:48–51.
organizers and the Switzerland-Cameroon Cooperation for 17. Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of
the training grant in medical genetics, awarded to the first au- commercial APC gene testing for familial adenomatous polyposis. N Engl J Med
thor of the present article. 1997;336:823–827.
18. James C, Geller G, Bernhardt BA, et al. Are practicing and future physicians pre-
pared to obtain informed consent? The case of genetic testing for susceptibility to
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