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Table of Contents
ORIGINAL ARTICLE
Year : 2021  |  Volume : 4  |  Issue : 4  |  Page : 356-365

Knowledge, awareness, and attitude of medical students concerning genetics and premarital screening


1 Department of Basic Medical Sciences, College of Medicine, King Saud Bin Abdul Aziz University for Health Sciences; King Abdullah International Medical Research Centre, National Guard Health Affairs, King Abdulaziz Medical City, Jeddah, Saudi Arabia
2 King Abdullah International Medical Research Centre, National Guard Health Affairs, King Abdulaziz Medical City; Department of Medical Education, College of Medicine, King Saud Bin Abdul Aziz University for Health Sciences, Jeddah, Saudi Arabia<, Saudi Arabia

Date of Submission29-Apr-2021
Date of Decision13-Jul-2021
Date of Acceptance18-Jul-2021
Date of Web Publication06-Oct-2021

Correspondence Address:
Syed Sameer Aga
Department of Basic Medical Sciences, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdullah International Medical Research Centre (KAIMRC), National Guard Health Affairs (NGHA), King Abdulaziz Medical City, Jeddah, 21423
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jnsm.jnsm_47_21

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  Abstract 


Objectives: The objectives of the study are to evaluate the medical students' knowledge, awareness, and attitude of genetics and genetic testing in general and premarital screening (PMS) in particular. Materials and Methods: An online predesigned, validated, and self-administered questionnaire was dispensed to all medical students of our university. This included questions regarding sociodemographic data, genetics, genetic testing, and PMS. Results: A total of 302 students responded to the survey with a mean age of 21.68 ± 2.32 (standard deviation) of which 38.7% were males and 61.3% were females. 51 (16.9%) students were from Phase I, 124 (41.1%) from Phase II, 127 (42.1%) from Phase III of College of Medicine KSAU-HS, Jeddah Campus. 224 (74.2%) of the participants had no direct relationship between the parents and 23 (7.6%) had personal history of hereditary disease. About 86.1% of students knew that genetic counseling is available in the Kingdom and 83.4% were familiar with PMS. Majority of students (female = 83.2%; male = 84.6%) did perceive that consanguinity can increase the chance of hereditary diseases. Overwhelming majority (female = 94.1%; male = 85.4%) agreed to make PMS obligatory before marriage, 87.4% of which were Phase III students. However, only a minority of students disagreed with marriage to be allowed even if the result of PMS came incompatible and most agreed to carrying out PMS which contrasts what others have reported. Conclusions: Majority of students had a positive attitude toward PMS, much higher than previously reported, thereby reflecting upon the importance of medical education as a lynchpin between the knowledge and practice.

Keywords: Genetics, health education, premarital screening, preventive medicine, Saudi Arabia, testing


How to cite this article:
Aga SS, Alghamdi YA, Alghamdi AA, Khan MA. Knowledge, awareness, and attitude of medical students concerning genetics and premarital screening. J Nat Sci Med 2021;4:356-65

How to cite this URL:
Aga SS, Alghamdi YA, Alghamdi AA, Khan MA. Knowledge, awareness, and attitude of medical students concerning genetics and premarital screening. J Nat Sci Med [serial online] 2021 [cited 2021 Dec 1];4:356-65. Available from: https://www.jnsmonline.org/text.asp?2021/4/4/356/327599




  Introduction Top


In the field of medicine, genetics is defined “science of human biological variation as it relates to health and disease” and it includes understanding the pathogenesis and etiology of diseases that are known to be genetic in origin.[1] Furthermore, the role of genetic spans from identifying possible medical conditions to personalizing medical treatment based on genetic environmental data of the patient.[2] Over the last decade, there was a massive increase in the amount of research about genetics. Hence, this led to an increase in the number of diseases discovered, along with that genetic testing evolved and has become a part of many screening programs.[3]

Genetics has transformed into the major component of modern medicine due to rapid advancement in scientific knowledge of genetics within various fields such as healthcare, research, policy, and education.[4] The recent progress in genetic and genomic discoveries has led to the development of new and improved genetic testing methods for screening, to identify a trait, diagnose a genetic disorder, and/or identify individuals who have a genetic predisposition to diseases, risk factors, and the prediction of latent diseases selection of treatment, and monitoring of treatment effectiveness.[5] Genetic technologies are seen as a positive development with the potential to provide benefits in future medicine through the use of personalized interventions (e.g., the most appropriate and efficient drug, with the right dose, frequency)[6] and also have the potential to decrease the probability of disease development through early disease detection and targeted surveillance and prevention strategies.[7] Genetic information is now an integral part of risk assessment for the patients who may integrate new genetic information and make important life choices based on their genetic understanding, such as a decision to cope with manageable factors, or opting for specific prophylactic treatments or clinical screenings and rethink about their offsprings.[8]

In modern health-care system, it is expected that health-care professionals are highly efficient and capable of understanding and translating findings from genetic screening and testing into a language that is easily understood by the common public. However, the complexity of genetics dictates the need for specialized training to decipher the genetic information, also compel a fundamental restructuring of the way training or education on genetics is provided to the health-care professionals.[9] Therefore, recognition of genomics as a central science for health professional knowledge is essential.

One of the common areas of genetic testing is premarital screening (PMS), it is an essential step to be performed in Middle East and specifically the Saudi Arabia where legally the test has to be done before marriage (known as Healthy Marriage Program-HMP). PMS in Saudi Arabia includes testing for common genetic blood disorders such as sickle cell anemia and thalassemia and hence improving the quality of life in marriage.[3],[10],[11]

As medical students and future practitioners, it is crucial to know about the tests involved in PMS to be able to counsel patients about the different potential outcomes of the test results and how it may affect their future married life and conception.

Therefore, this investigation aimed to answer/know the following questions:

  1. To evaluate the medical students' knowledge and awareness of genetics in general
  2. To assess the students' knowledge of the genetic tests involved in PMS
  3. To evaluate the perception and attitude of medical students' toward the practice of PMS.



  Materials and Methods Top


Study design

The current cross-sectional study was conducted at King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS) between July and August 2020. The study was carried out on Medical Students of College of Medicine in KSAU-HS, National Guard Health Affairs, Jeddah Campus, Saudi Arabia.

Study sample

The required sample size was calculated using the online Raosoft® software (website link: www.raosoft.com/samplesize.html). For calculation, the estimated 50.0% prevalence of awareness regarding genetics, genetic risk factors and genetic screening, 95% confidence level, and a margin of error ± 5% was used. With a student's size of 800 in College of Medicine, the necessary determined sample size was found to be 203; however, the final sample size of 300 was targeted during data collection. The response rate of 60% or above was targeted for the analysis of the data.

Consent and ethical approval

An informed consent was taken from all the participants before participation in this study. None of the names and IDs was taken from the participants and the data were stored within 64-bit encrypted software that was not prone to be breached by nonauthorized persons. The study was carried out in line with the Helsinki protocol, and an ethical approval from the Institutional Review Board of King Abdullah International Medical Research Center (KAIMRC), KSAU-HS, Riyadh, was duly acquired before carrying out the study (SP20/153/J; Dated: June 14, 2020).

Questionnaire

All participants were given a self-administered, predesigned, and validated questionnaire containing structured questions divided into four sections: (a) demographic information, (b) knowledge of genetic testing, (c) knowledge about the PMS, and (d) perception/attitude toward PMS.

Section A contained question about the demographic characteristics of participants such as age, gender, marital status, and education level at KSAU-HS. Section B contained eight questions, Section C contained six questions, and Section D contained fourteen. Our questionnaire was developed after rigorous literature search and adopting the various published studies of similar kind.[12],[13],[14],[15] However, we also conducted a pilot study on 25 students to assess the reliability and validity of our developed questionnaire; none of the students involved in pilot test were included in the study later. The final survey was conducted online using Google Forms (available on request).

Data and statistical analysis

The results of this study were expressed in frequencies and percentages for qualitative variables. Independent t-test was conducted to compare the awareness and knowledge scores between male and female student participants and between the students of various levels in COMJ, KSAU-HS. The data were entered in MS Excel and before the analysis; the dataset was prepared and checked for missing data.

SPSS software was used for the analysis. Chi-square test was used for analysis of data. Descriptive statistics (e.g., mean and standard deviation) were used to describe continuous variables while categorical variables were presented in frequencies and percentages. Independent sample t-test was used to determine the mean score differences of the awareness, knowledge sections between genders, and levels of education in COM. The confidence was set at 95%; statistical significance was determined at P ≤ 0.05.


  Results Top


Demographic profile of participating students

A total of 305 students responded to the survey; however, three of the students did not agree to participate in the study. Hence, 302 of students answered the online questionnaire with a mean age of 21.68 ± 2.32 (standard deviation). The gender distribution of participants was as: male (38.7%) and female (61.3%) students and majority of them were single (91.7%). Of the 302 students, 51 (16.9%) were from Phase I, 124 (41.1%) from Phase II, 127 (42.1%) from Phase III of College of Medicine KSAU-HS, Jeddah Campus [Table 1].
Table 1: Demographic characteristics of the participants

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Genetic background

In this study, we found that 224 (74.2%) of the participants had a direct relationship between the parents and 23 (7.6%) had personal history of hereditary disease while 38 (12.6%) of the participants had family history of the hereditary disease [Figure 1].
Figure 1: Family/hereditary background. Numbers represent percentages. Majority of participants lack a history of hereditary diseases and parents relationship

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Knowledge of genetic testing

In this study, we found that the majority of the students (both male and females) were familiar with the term “genetic testing,” knew that genetic test did not cause any harm, were aware that genetic test was not forbidden in Saudi Arabia, and that it is a reliable tool for diagnosing and predicting diseases [Table 2]. Although majority of students (86.1%) knew that genetic counseling is available in the current health-care system, however, 17.9% of male students replied with no to this question. Based on the phases of education of students, there was marked significant difference in response to these elements of questionnaire, emphasizing difference in the knowledge of the students, with lower-level students having differences in agreements with the questions [Table 3]a and [Table 3]b. In addition, majority of the students (69.9%; female = 70.3%, male = 69.2%) thought that the genetic testing is expensive procedure, which included 81.1% of the Phase III students (P < 0.001).
Table 2: Knowledge of genetic testing (overall)

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Table 3: Association of knowledge of genetic testing based on gender and phases of education in KSAU-HS

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Knowledge about the premarital screening

In this study, we found that most of the students (83.4%) were familiar with the term PMS, and majority of them agreed with most of the queries of questionnaire irrespective of their gender and level of education [Table 4] and [Table 5]. In addition, most of the participants identified PMS as a mandatory test, with a significant difference in the opinion in both genders and level of education (P < 0.001). Furthermore, majority of the participants were not knowing that PMS is able to screen for the couple's ability to have children (P < 0.001). For all the questions, the trends of agreement were mostly for the phase III students [Table 6]a and [Table 6]b.
Table 4: Knowledge about the premarital screening – (Overall)

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Table 5: Knowledge about the premarital screening – (phases)

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Table 6: Association of knowledge about premarital screening based on gender in KSAU-HS

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Perception/attitude toward premarital screening

The measurement of the perception and attitude of the students toward PMS revealed an astonishing and significant difference in opinions [Table 7]. We found that as the students advance in their academic phases, they tend to provide the expected responses; but the table shows that majority of students from all phases shy away from agreeing to set regulations to stop marriage if the result of PMS is not favorable. Furthermore, majority of the Phase III students (96%) agreed that consanguinity can increase the chance of hereditary diseases [Table 8].
Table 7: Perception/attitude toward premarital screening – (gender)

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Table 8: Perception/attitude toward premarital screening – (phases)

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Furthermore, we found that minority of the students disagreed with the two opinions, that (a) marriage should be allowed even if the result of PMS came incompatible (female = 47.5%, male = 33.3%) and (b) marriage decision must be left to freedom of couple, if the result of PMS revealed hereditary/inherited disease (female = 29.2%, male = 24.5%). Furthermore, when asked about that there should be mandatory laws and regulations to stop the marriage in case of positive, only a minority of students agreed (female = 41%, male = 33.3%) [Table 7] and [Table 8].

Furthermore, to the personal questions of the decision regarding PMS, majority of the students agreed that PMS does not interfere with their belief in destiny (female = 63.7%, male = 69.8%) but disagreed that PMS is against the Islamic rules (F = 93%, M = 80.3%). However, quite surprisingly, majority of the students did disagree with the statement that PMS should be solely voluntary (female = 77.8%, male = 60.7%) [Table 7] and [Figure 2].
Figure 2: Attitudes toward the decision to undergo premarital screening should be solely voluntary. Numbers represent percentages

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When asked whether they be willing to do PMS for themselves, majority of the students (93.8%) agreed while providing range of reasons for their choice of opting for PMS or not [Figure 3], [Figure 4], [Figure 5].
Figure 3: Participants opinion toward willing to do premarital screening. Numbers represent percentages

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Figure 4: Participants opinion regarding the reasons for agreement to carry out premarital screening. Numbers represent percentages

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Figure 5: Participants opinion regarding the reasons for disagreement to carry out premarital screening. Numbers represent percentages

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  Discussion Top


There are numerous human diseases which are congenital in nature and do arise due to specific genetic alterations in the genome of the parents. These disorders are directly related to a major huge percentage of infant mortality, morbidity, and disability in Middle Eastern countries because of the high prevalence of consanguineous marriages (CMs).[16],[17],[18],[19],[20] In genetic disorders, consanguinity is regarded as the single most important risk factor because it increases the incidence of autosomal recessive disorders multifold.[21],[22],[23],[24] PMS is a composite program which on the one side involves the testing of potential future couples for common genetic disorders by testing their genome while on the other provides them medical and genetic counseling in case the test comes out unfavorable; especially in case of odds of transmitting the diseases to the other partner/spouse or children.[3],[25],[26]

In the Kingdom of Saudi Arabia, the PMS program was initiated in 2004, with the idea to screen the individuals who intend to get married. The program screens the individuals for common genetic diseases such as sickle cell disease, thalassemia, HIV, and hepatitis B and C.[27] This screening has been deemed as mandatory for all couples who plan to get married in Saudi Arabia.[11] There is another program called National Newborn Screening Program which overlays the HMP to fill the gaps with one general objective; i.e. early screening of the newborn to reduce the disease and to decrease the disability rates caused by genetic disorders (endocrine and metabolic, etc.).[10],[11],[28]

Considering the culture, CM, and higher frequency of the congenital diseases affecting the population, PMS has become a necessary preventive program to put a curb on the ailments related to genetics of individuals by providing premarriage and prepregnancy genetic diagnosis and counseling.[16],[17],[26] It has been emphasized by many authors that successful PMS requires better identification and focused implementation on the target population, especially young and unmarried students still in their prime of life.[11],[17],[29],[30]

A well thought and successful PMC can identify and modify some of the behavioral, medical, and other health risk factors known to impact pregnancy outcome through effective prevention and management.[30],[31],[32] Numerous authors have reported that PMS is effective in reducing the overall prevalence and frequency of many known congenital diseases by reducing the number of high-risk marriages and of its being cost-effective strategy in the management of these diseases.[25],[33],[34],[35],[36],[37],[38]

In our current study, we found that our participants had some knowledge about the basics of genetic testing and majority of them were aware about the availability of genetic testing in the Kingdom and its ability to serve as the reliable tool for diagnosing and predicting diseases [Table 2]. Furthermore, their knowledge and awareness about the PMS and its essential features especially its use in diagnosing the diseases were also high. These results were above than what has been reported in similar studies from Qatar, Oman, Syria, and Saudi Arabia.[14],[15],[17],[25],[29],[30],[39],[40],[41] Al-Aama reported that about 96% of the respondents believed that PMS to be essential and 95% of them believed that PMS would have limited the spread of hereditary disease.[40]

Furthermore, in our study, only 25.8% [Figure 1] of the participants reported to have consanguinity between their parents, and majority of participants (female = 83.2%; male = 84.6%) did perceive that consanguinity can increase the chance of hereditary diseases [Table 7] and [Table 8]. In the Middle Eastern countries because of the tribal nature of marriages, higher proportions of them are consanguineous which are known to result in a high incidence of genetically based disorders.[18],[19],[20],[42] Numerous authors have reported the consanguinity rate ranging from 25% to 60% in this region, with first-cousin marriage being the topmost, which is n concordance with our finding as well.[29],[30],[40]

In this study, the medical students' attitudes toward PMS were largely favorable with majority of positive perception to most of the statements in the questionnaire [Table 7]. The majority agreed that there should be a counseling session before and after PMS and it is important to reduce genetic and sexually transmitted disease prevalence in Saudi; contrarily only small portion of them agreed that there is harm or disadvantage in PMS. These results are in accordance with the ones reported previously and do reflect that those students are aware about the preventive nature of PMS.[2],[14],[15],[29],[40],[43]

When asked about their perception toward making PMS obligatory before marriage, overwhelming majority agreed to the idea, majority (87.4%) of which belong to Phase III of the college. These results are like the reported ones from Oman and Saudi Arabia.[15],[44] However, the students were divided in their opinion for two key questions: (a) allowing the marriage even if the result of PMS came incompatible and (b) marriage decision must be left to freedom of couple. Furthermore, majority of the students disagreed that PMS to be against the Islamic rules and majority agreed to the idea of having a mandatory laws and regulations to stop the marriage in case of unfavorable PMS result but majority of them disagreed to PMS being a voluntary decision [Figure 2]. This may be due to the traditional and Islamic values inculcated in the students which prevent the interference in the personal freedom and choice. Alhamdan et al. in his study had reported that approximately 90% of high-risk couples still opted to marry, despite being aware of the risk of having an offspring with a genetic disease.[37] However, Memish and Saeedi in their study reported a five-fold increase in the voluntary cancellation of marriage by couples which underwent PMS in a period between 2004 and 2009.[36]

Finally, most of the participants in our study agreed to carrying out PMS which contrasts with the results reported previously.[15],[40] While listing many reasons for their choice, most opted to prevent the transmission of the diseases to their offspring's, to ensure for their partner's health, and to ensure fitness of marriage. However, many also had fears for carrying out the PMS, some of which were family refusal in continuation of marriage, interference with god's will, breaking of personal privacy [Figure 3], [Figure 4], [Figure 5].

Study limitations

  1. This study was carried out in Jeddah campus of KSAUHS, Saudi Arabia, and hence does not necessarily reflect the general population
  2. Study design (cross sectional) is very sensitive to a variety of biases
  3. Data collection questionnaire was an online self-administered one and hence has an inherent risk of recalling bias or contamination by the participating students.



  Conclusions Top


This study showed that most of the medical students have a positive attitude toward PMS, much higher than previously reported by numerous studies. This study does reflect upon the importance of medical education as a lynchpin between the practice and knowledge and does support the idea of importance of PMS in preventive medicine exposure from early on in professional life.

Acknowledgments

The author would like to express his deep gratitude to all students of the KSAU-HS, Jeddah campus who proactively participated in this study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6], [Table 7], [Table 8]



 

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Abstract
Introduction
Materials and Me...
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