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Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden

Human Genomics volume 18, Article number: 138 (2024) Cite this article

Abstract

Background

Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and national economy due to costly long-term care. Earlier studies highlighted the significantly limited awareness of the higher prevalence of genetic disease due to consanguinity even among the educated Arabs. In Saudi Arabia, more than 50% of marriages are between first cousins. This national study aims to gauge the level of the public awareness regarding the consanguinity and its impact on prevalence of genetic diseases across the Saudi Arabia.

Methods

A cross-sectional bilingual online survey was conducted across Saudi Arabia, distributed through a variety of social media platforms for all residents. Pooled summary data was used from the participants.

Results

Majority of the 9191 participants are < 30 years of age (72.85%), single (61.35%), women (74.12%) and college educated (77.16%). Consanguineous marriages are common in the extended family of 61.24% of participants. Though majority of them (85.45%) recognise the higher genetic disease risk associated with consanguinity, low awareness among men was observed (76.61 vs 88.53%). Sickle cell anaemia and thalassemia were not considered as genetic diseases by 60.68% of males and 48.39% of females, though they are the most common genetic diseases in Saudi Arabia. More women are aware of the carrier screening tests than men (42.62 vs 34.56%). Only 6.87% know the rationale behind the national mandatory premarital screening tests and the diseases screened. Although almost all (99.18%) are active users of the social media, 47.77% of men and 57.17% of women use them to search for health-related information.

Conclusion

The present study, one of the largest national surveys in highly consanguineous society, highlights that even the young and college-educated participants have low awareness of the genetic disease burden, which is strikingly high in all corners of the country. Social media platforms can be used by genetic professionals and national organizations to disseminate the reliable educational material to the public to reduce the national healthcare and economic burden in the future.

Introduction

Consanguineous marriages have been a common practice for many generations worldwide and over 1.2 billion people live in countries where these types of marriages are common [33]. Consanguinity rates vary between different ethnic and religious communities, with higher prevalence recorded in several Arab countries. Rate of consanguineous marriages in many North African, western Asian and the Middle East Arab countries ranges between 20 and 50% [33, 54]. Consanguineous marriages are uncommon in most European countries and the United States, except in a few isolated communities like the Amish in the USA [24], [29].

High incidence of genetic diseases among consanguineous families, a cause for higher mortality and morbidity at an early age, is described by many studies [18, 34, 44, 45, 49, 56, 62]. Parental consanguinity increases the prevalence of monogenic autosomal recessive disorders, such as hemoglobinopathies, cystic fibrosis and inborn errors of metabolism [9, 19, 20, 38, 46, 62]. Consanguinity also impacts the complex and polygenic diseases such as heart diseases, asthma, and hypertension, supported by familial aggregation [21].

Over the years, few local studies in Saudi Arabia reveal high prevalence of first cousin marriages with no decrease in the prevalence over generations. Since 1995 the rate of consanguinity among Saudis has been steady around 57.7%, and has not changed in further studies in 2007 and 2014 [30], [31], [66].

Hereditary and infectious diseases are considered to be the major burden on social life and economic family life in Saudi Arabia. Saudi Arabia introduced mandatory premarital screening (The Healthy Marriage Program) for selected diseases including sickle-cell anaemia, thalassemia, and few infectious diseases (Saudi Ministry of Health Public Health—Premarital Screening). A five-year study to assess the effect of premarital screening on the prevalence of thalassemia and sickle cell disease reveals that the rate of B-thalassemia decreased while sickle cell anaemia remains high. Rates of both disorders are still high in rural areas, which can be explained by the higher frequency of consanguineous marriages [16].

Few smaller surveys in major cities among college/university students and healthcare professionals and one at the national level showed the low awareness of genetic diseases and related burdens in Saudi Arabia [1, 2],K. M. [11], [48], [4].

Across the globe, many surveys are being carried out through social media tools. Internet and social media use in Saudi society is one of the highest among many countries in the world. We used social media to reach out to residents across all corners of Saudi Arabia to survey the awareness of the impact of consanguinity on the genetic disease burden in the family and the country for the first time.

Methods

This project was aproved by The Institutional Research Review Board (IRB) of King Abdulaziz University, Jeddah, Saudi Arabia. A cross-sectional online survey was conducted among Saudi society. An online bilingual questionnaire was created (in Arabic and in English) using the Google Forms platform, then distributed electronically using different social media platforms like WhatsApp, Twitter, and Snapchat, targeting exclusively the residents in Saudi Arabia. This survey questionnaire was created by reviewing previous studies in the Arab world and other countries to ensure its uniqueness. This study even though did not carry out dedicated validation study, we tested the questionnaire with bilingual students at the university who were not part of the study. This is to test the accuracy of the translation and ease with which they select the same answer in both languages for all questions. Minor corrections were made to the survey based on the feedback from the volunteers. The final version of the survey was approved by all authors and the Institutional ethics committee. The questionnaire did not gather any personal information that could identify individual participants. The questionnaire has three sections: the first section queried the participants' basic demographic characteristics including (age, gender, nationality, region, educational attainment, marital status, etc.). The second section is about consanguinity, the reason for this common practice in the society, and its genetic risk. The third section includes questions to gauge the level of basic knowledge about genetic disease, screening tests, and where to find trustworthy health info. Basic statistical analysis was carried out using online statistical software package: Social Science Statistics (https://www.socscistatistics.com), GraphPad (https://www.graphpad.com) and/or SPSS as required.

Result

Socio-demographic data of participants

A total of 9191 participants from all 5 regions of KSA completed the survey (Fig. 1). Majority of them (96.84%) were Saudi nationals, 280 (3.04%) were Arab residents from neighbouring countries living in KSA, and 10 (0.10%) were non-Arab residents. Survey in English was filled by less than 100 participants and the data was pooled with the Arabic language survey results for downstream analysis.

Fig. 1
figure 1

Geographical distribution of Survey participants—both genders

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The demographic characteristics of the participants are summarized in Figs. 2 and 3. Majority of participants were young between 18 and 30 years (72.85%), single (61.35%), and university graduates (77.16%). Three out of every 4 of the participants were women both at the regional and national level (74.12 vs 25.87%, X2 test- P < 0.0001).

Fig. 2
figure 2

Demographic and social profile of 6813 female participants. Age group, education, marital status and social media user status data are presented as % of all female participants

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Fig. 3
figure 3

Demographic and social profile of 2378 male participants. Age group, education, marital status and social media user status data are presented in % of total men

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Awareness of consanguinity: Reasons and Risks

Significantly high number of participants (61.24%) reported the consanguinity in their families, more so by men than women (65.47 vs 59.76%, P < 0.0001). Lowest number of participants (56.11%) from the central region reported the positive consanguinity in their family in the KSA. Significant number of participants (> 60%) from other regions recorded positive consanguinity in their families.

Main reasons for choosing a partner from close relatives is (a) not to break the tribal cultural tradition of many generations (73.68%), and (b) interaction from early childhood of potential partners from the same family (44.78%). If they are from different families, chances of meeting are unlikely as the local customs do not allow it. Men are more likely to choose a partner from close relatives than women (56.39 vs 40.73%, X2 test-P < 0.0001).

Majority (88.53% women vs 76.61% men; X2 test-P < 0.0001) recognize that consanguinity is the major contributing factor for many genetic diseases in the society, but still 14.54% (11.46% women and 23.38% men) do not believe it so (Fig. 4).

Fig. 4
figure 4

Socio-demographic profile of participants who are assuming consanguinity do not play a role in genetic diseases in families. Age, Education, marital status and region data are presented. *Chi-square statistic is significant at the 0.05 level. Significant difference was seen with reference to gender, age, education, marital status as well as region where these participants reside

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More than three quarters of participants (76.72%) are aware of the higher risk of genetic defects in children of consanguineous parents. Surprisingly, about 1 in 3 men (36.75%) did not recognize that the higher risk of genetic defects is associated with consanguineous marriages. Approximately 1 in 6 women (18.56%) are also not aware of the increased genetic disease risk with consanguinity. In all regions, a similar pattern of low level of understanding is seen in both genders (Fig. 5).

Fig. 5
figure 5

Socio-demographic profile of participants who are assuming consanguineous families do not have higher risk of having a baby with genetic disease. *Chi-square statistic is significant at the 0.05 level. Significant difference was seen with reference to gender, age, marital status as well as region where these participants reside

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Only 23.97% of participants are aware that sickle cell anaemia and/or thalassemia are often seen in consanguineous families. Large number of the survey participants of both genders (60.68% of men vs 48.39% of women, X2 test- P < 0.0001) are not aware of them. Awareness of genetic diseases among men is lower than women in all regions of the KSA. Lowest levels of awareness of genetic diseases are reported by the participants from the northern region (60.02%) when compared to other regions (< 53%; range 42.49–52.58%). Majority of the unmarried men were not aware of genetic diseases compared to married participants of both sexes and single women (Single men 64.29 VS 56.71% married men, single and married women 48.21% and 48.72 respectively, X2 test- P < 0.0001) (Fig. 6).

Fig. 6
figure 6

Socio-demographic profile of participants who are not aware of the increased incidence of sickle cell anaemia and/or thalassemia amongst consanguineous families. *Chi-square statistic is significant at the 0.05 level. Significant difference was seen with reference to gender, age, education, marital status as well as region where these participants reside

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Majority of the participants (83.15%) feel that knowing the risk of consanguinity will reduce the genetic disease burden in the family (Agree = 26.02%, strongly agree = 57.13%).

Knowledge of genetic disease

Majority of the participants (73.94%) have come across a family with inherited genetic disease and 35.39% informed that a genetic disease is present in their own family, supporting the high prevalence of genetic disease in KSA. About 10.47% (1 in 10) of all participants did not know the disease can be inherited, more so in men (14.59 vs 9.04%, X2 test- P value < 0.0001) (Fig. 7).

Fig. 7
figure 7

Socio-demographic profile of participants who are lacking knowledge about inheritance of genetic disease. *Chi-square statistic is significant at the 0.05 level. Gender and regional difference where these participants reside as well as the female age groups showed a significant difference

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In general, men tend to have low awareness of the genetic basis of diseases (25.35% vs 17.89% than women, X2 test- P value < 0.0001) (Fig. 8). Significantly, more women are aware of carrier screening tests than men (42.62 vs 34.56%, X2 test- P value < 0.0001). Between one half and two third of survey participants of both sexes (55.31–63.36%) from all regions are not aware of carrier screening tests.

Fig. 8
figure 8

Socio-demographic profile of participants who have low awareness of genetics. *Chi-square statistic is significant at the 0.05 level. Significant difference in female was seen with reference to age, education, marital status as well as region where these females reside

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Awareness of the availability of carrier tests for a variety of genetic diseases in the country is lowest among men from the central region (70.15%) and among women from the Northern region (62.56%) (Fig. 9).

Fig. 9
figure 9

Socio-demographic profile of participants who are not aware of carrier screening tests for genetic diseases. *Chi-square statistic is significant at the 0.05 level. Significant difference was seen with reference to age, education, marital status as well as region where these participants reside

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Mandatory premarital screening tests in Saudi Arabia include few common genetic diseases like thalassemia, and chronic infectious diseases. Unmarried participants of both sex (46.46% females and 49.36% males) have significantly lower knowledge of existing mandatory premarital screening tests compared to married participants (37.64% females and 34.45% males) (Fig. 10).

Fig. 10
figure 10

Profile of participants lacking knowledge about the diseases screened in premarital screening program. *Chi-square statistic is significant at the 0.05 level. Significant difference was seen with reference to age, education, marital status as well as region where these participants reside

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Only 6.88% of all participants know that some genetic diseases are screened under the mandatory premarital screening program.

We devised a few survey questions on the participants’ social media use and what they consider to be reliable sources for health-related information. We want to hear what their opinion in order to come up with a better way to spread the word to people who live far away from the big cities and towns. Almost all participants (99.18%) use at least one of the social media platforms, like Snapchat, Twitter, etc. More than one half of all participants (57.20%) are regular multiple social media (like Snapchat, Twitter, Telegram etc.) users, the bubble chart shows the usage of social media platforms by participants (Fig. 11).

Fig. 11
figure 11

Social media platform usage among participants

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More women (57.17 vs 47.77% men, X2 test- p < 0.0001) use social media to gather information related to health and diseases along with other personal and entertainment activities. Up to 76.13% of the participants depend on the healthcare professionals and on the information booklet or websites of the Ministry of Health or recognized national healthcare providers in the country.

Discussion

Consanguinity is one of the most significant factors in determining the genetic variability level within a population [23]. The rates of consanguineous marriages are declining in many countries around the world. Nevertheless, current rates in a few countries are higher than in the past [63]. Among Arab countries, the highest consanguinity rate is seen in Saudi Arabia, with the overall rate estimated to be 52–58% [3, 8, 31] and in certain remote rural areas it goes up to 80% [31]. This study was undertaken to gauge whether the public realise the importance and impact of consanguinity on the high prevalence of genetic diseases in the Arab society.

This study highlights that consanguineous marriage is common (61.24%) among the Saudi Arabs. This study reveals the major reasons for the high rates of close relative marriages in this society which includes, (a) to maintain the traditional values; (b) to receive emotional and economic support through the extended family when in need and (c) couples are known to each other from a young age as they are family members. Unrelated young people are not encouraged to meet the opposite sex from other families in this society. This is possibly attributed to the preservation of tribal society influence, as shown in several countries with similar cultural traditions [32], [65].

Earlier study in Saudi Arabia reported that consanguinity is favoured by one in every two Saudi adults (O. A. [12]. Similar findings of higher preference of consanguineous marriage were reported from Oman, Iran, Pakistan, and Afghanistan [41, 42, 51, 55]. In the present study, men are more likely to choose a partner from close relatives than women. Al Farsi and his colleagues in Oman have reported that 81% of men preferred to marry a relative [5]. Two studies conducted among young people of multicultural and multi-ethnic heritage in The Netherlands and Mexico, also reported such preference among men than in women. This highlights the struggles of the ethnic community in trying to protect its tradition and to maintain their cultural beliefs in an ever-changing complex multicultural society of worldwide [25], [26].

Consanguinity is the major contributor to the higher prevalence of monogenic diseases. Majority of responders (75%) in the present study have come across with at least one family bearing a genetic disease, if not their own. This explains the high number of genetic diseases prevalence in this society. Indeed, two large studies from Saudi Arabia reported high rates (84 and 97%) of autosomal recessive disorders in consanguineous families [10], [50].

The Catalogue of Transmission Genetics in Arabs (CTGA) of the Centre for Arab Genome Studies (CAGS) recorded the highest proportion (50–60%) of recessive disorders from Saudi Arabia among all Arab nations [37]. They impact the quality of life for affected individuals and are a massive burden on the national health care system and the families, as the affected persons require long term home/ hospital management. It is estimated that the annual cost of treating hemoglobinopathies is approximately 100,000 Saudi Riyals ($26 K) per patient [22]. More than half of the responders in the present study are unaware that the thalassemia and sickle cell anaemia are some of the common genetic diseases in this society, especially among the consanguineous families. Most of the study participants were college graduates and were not married and they need to be aware of the risk of genetic diseases in their family. It is important to get help early on to reduce the impact of these diseases.

Comparable findings of inadequate understanding about consanguineous marriage were reported among 44.6% young couples in Iran [60]. Also, it is interesting to note that only 35% of multicultural and multi-ethnic communities in Western society recognized that such diseases occur often in consanguineous families [64]. While, in India 81.3% were not sure or had a misconception that no health hazards were associated with consanguineous marriages [43].

Several efforts have been made to reduce inherited disorders burden in the Saudi community, including the establishment of a mandatory premarital screening program [59], new-born screening program [58], and the Saudi Human Genome Program to understand the uniqueness of the Saudi genome [57]. Surprisingly, the majority of the participants showed a lack of knowledge of the existing premarital screening tests for common diseases in the society and genetic disease carrier test options in the country. This larger survey in Saudi Arabia confirms such observation of the smaller studies from Saudi Arabian cities. Though most participants were aware of the mandatory premarital screening [7, 22, 39] before the marriage is registered, many do not know what diseases were screened. Studies from Qatar, Pakistan, and Turkey also reported the lack of the knowledge about premarital screening and prenatal diagnosis tests [6], [40], [61]. Our observation highlights the low impact of the past national genetic disease awareness campaigns carried out. The national genetic organization must research to find out the reasons for the low awareness in the society and how to make it more impactful in the future. This survey highlights that the participants are in need for reliable information from professionals/consultants and the ministry of Health. Awareness campaigns of screening programs initiated by the specialist healthcare professionals, especially Medical Geneticists, genetic counsellors and scientific and medical organizations such as Saudi Society of Medical Genetics, will be key players as they are considered the reliable source for diagnosis and clinical management of genetic diseases. Genetic education must be implemented at the high schools and colleges to make the younger generation aware of the genetic diseases in the society and what options are available to reduce their own risk of having an affected child in the future.

In the present study, 59.46% of responders did not know of the availability of genetic carrier screening tests in the country. Majority of the Medical Genetics consultants and specialised diagnostic laboratories in Saudi Arabia providing such services are based mainly in the tertiary hospitals of major cities like Riyadh, Jeddah, Makkah, Madinah, and Dammam, which explains this phenomenon. Studies from Saudi Arabia as well as other countries strongly suggest that healthcare providers require further education and training to handle basic genetic counselling aspect of the disease burden in the family, although they receive only basic genetics education [15], [36], [47] in their degree programs. This will help the vulnerable families to get the required help in time to prevent genetic disease burden in the future and reduce the impact on the long-term healthcare burden of the affected.

In this survey, most of the participants have limited knowledge about the genetic basis of diseases and inheritance, women fared better than men. This could be explained by the responsibilities of raising their children and families mainly fall on women rather than men in this society [48]. Women tend to accept and take in medical information with more objectivity than men do [2].

There are significant variations in the understanding of basic principles of inheritance of diseases in population-based studies across various countries. For example, surprisingly in countries like Russia, the USA, and the UK, genetics knowledge was overall poor [27]. Less than half of the Jordanian population were knowledgeable about genetics, whereas Australians were considered to have better understanding of genetics in comparison [14, 28]. Our study confirms the universal finding of such studies and women have better understanding of genetics than men ( [28], [52].

Internet, and social media users are exponentially increasing in Saudi Arabia over the past few years [17]. In 2023, Saudi Arabia had an estimated 35.97 million Internet users, which is 99% of the total population,additionally, 28.8 million people (79.30% of the population) are active social media users [35]. Our result showed that > 99% Saudi nationals use social media, and more than 80% use multiple social media platforms regularly. KSA is one of the leading social media users in Middle Eastern countries. Almaiman et al. reported that 79% of healthcare professionals (especially physicians) in Saudi Arabia seek online health information. They noted that Twitter had an important effect in improving their clinical practice and increasing their medical knowledge. Also, over half of the participants reported the necessity for investment in specifying trustworthy and credible health accounts on Twitter or other social media platforms [13]. This will help the users not to accept the wrong information and advice about the diseases in general and options for prevention or for treatment from individuals who seek personal benefits or from questionable commercial organizations selling their unreliable products and services. Impact of such wrong information and advice came to the forefront during the COVID pandemic in many countries where the vaccination was not as successful as expected, and thousands lost their lives by not taking the vaccines to protect themselves. Up to 76.13% of our survey participants rely on healthcare professionals and on the information websites of the Health Ministry for any medical queries. Healthcare workers can play an active role in hindering the spread of misinformation by disseminating verified medical content [53]. Being the country with the highest users of the social media platforms, government and healthcare organizations and medical professionals can utilize them to introduce public awareness programs on all health-related issues, especially in Arabic language to reach the remote corners of the country.

Limitations

Limitations of this study are few. The study was conducted online, not in person, so we are not able to verify their educational background and other personal details thoroughly. The survey responders were mainly college educated and missed out many from remote areas who were not that highly educated. This study even though did not carry out dedicated validation study, we tested the questionnaire with bilingual students at the university who were not part of the study. Earlier smaller regional studies in Saudia Arabia revealed similar pattern of responses about awareness of the genetic disease or about the availability of genetic tests as well. This study did not ask directly the participants about possible reasons for the failure of the decades of national efforts to reduce the genetic disease in the country. Future study must address these challenges to help the country plan for better health for all.

Conclusion

This is one of the largest national surveys in KSA carried out to estimate the knowledge and awareness of consanguinity and the genetic disease burden. Arabic tribal culture, traditions, and long-term interaction as youngsters of potential partners were the most important factors for high rates of consanguineous marriages in the Saudi families. Lack of awareness and understanding of the risk of consanguineous marriage is high even among the educated people of both genders. There is a significant gender differences recorded in the awareness of genetic diseases, diagnosis, and facilities available within the country in general. Being the heavy users of social media platforms in the Middle East Arab region, an impactful awareness programs can be made available in Arabic language about the consequences of consanguinity and the options available to reduce the genetic disease burden across the country to make it a healthy nation in the future. This can be universally applied to many countries with high consanguinity rates. We recommend the following action plan to address low impact of the decades of national effort in reducing the genetic diseases on the genetic disease incidence: (1) Introduction of genetics curriculum from high school levels, (2) Utilization of social media platforms to reach the remote areas, and (3) Local genetics professionals reaching out to the remote communities through television or other media sources at regular intervals to increase the awareness of genetic diseases.

Availability of data and materials

All data are presented in the main manuscript within the figures.

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Acknowledgements

We thank Dr Khadija Bakur, Genetic Counselling Consultant, King Abdulaziz University Hospital for reviewing the manuscript and for providing detailed feedback to improve it.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or non-profit sectors.

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Author notes

  1. Nura A. Yousef

    Present address: Molecular Biology Department, Northern Borders Regional Laboratory, Arar, Saudi Arabia

Authors and Affiliations

  1. Genetic Medicine Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

    Nura A. Yousef, Ashraf A. ElHarouni, Noor Ahmad Shaik, Babajan Banaganapalli, Deema Aljeaid, Dalal S. Alshaer, Mahmoud Almutadares & Ramu Elango

  2. Princess Al-Jawhara Centre of Excellence in Research of Hereditary Disorders (PACER-HD), Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

    Nura A. Yousef, Noor Ahmad Shaik, Babajan Banaganapalli, Taghreed Shuaib & Ramu Elango

  3. Biology Department, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia

    Asayil Faisal Al Ghamdi

  4. Ophthalmogenetics Department, Research Institute of Ophthalmology, Cairo, Egypt

    Amani H. Galal

  5. Pediatrics Department, King Abdulaziz University, Jeddah, Saudi Arabia

    Turki Saad Alahmadi & Taghreed Shuaib

  6. Genetic Medicine Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia

    Ashraf A. ElHarouni, Deema Aljeaid, Dalal S. Alshaer & Mahmoud Almutadares

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Contributions

NAAY, NAS, BB, AAE and RE; Design: NAAY, NAS, BB, AAE and RE; Survey implementation and data collection: NAAY, AFAG, AHG; DSAG; RE; Data quality check and validation: DA, TSA, TS, DSAG; Data interpretation: All authors; Statistical analysis: NAAY, AFAG, NAS, BB, RE; Initial manuscript write-up: NAAY, ASAG; AAE, DA, MAM, RE; Review of data and manuscript: All authors and Final manuscript editing and approval: All authors. All authors have agreed to be personally accountable for their contribution Supervision: RE Corresponding author: RE Co-Corresponding author: MAM.

Corresponding authors

Correspondence to Mahmoud Almutadares or Ramu Elango.

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None of the authors have declared any conflict of interest and also not received any funds from commercial organization to influence the study design, or any other aspect of this study, including the publications.

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Yousef, N.A., ElHarouni, A.A., Shaik, N.A. et al. Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden. Hum Genomics 18, 138 (2024). https://doiorg.publicaciones.saludcastillayleon.es/10.1186/s40246-024-00700-x

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Keywords

Human Genomics

ISSN: 1479-7364