Genetic disorder is a condition caused by an abnormal variation in a persons DNA (Odelola et al., 2013). These variations can occur in different forms, such as  mutation in a single gene, change in the number of copies of a gene, or structural change in a chromosome etc. (Ab Majid et al., 2018). They can be caused by a variety of factors, including mutations, chromosomal abnormalities, or environmental exposure to the certain toxins (Maria Jackson & Leah Marks, 2018). Globally, more than 6,500 hereditary disorders have been disco-vered to date, and common genetic diseases are gradu-ally becoming a serious health concern (McKusick, 2007; E. Samuels, 2010). For patients to receive the best care, these disorders must be diagnosed promptly and accurately (Black et al., 2015; Baynam et al., 2020). However, the diagnosis of hereditary illnesses can be difficult and is dependent on knowledge of the molecular causes of that specific disease (Burton & Gargus, 2021). Despite substantial progress in the post-genomic period in our understanding of many human diseases, the majority of the hereditary diseases remain unknown yet. This is basically due to the rarity and clinical heterogeneity of the majority of these disorders. Moreover, hundreds of genetic diseases from which the causes of the small numbers of these diseases are known and most of them are still unknown (Beaulieu et al., 2014; McClellan & King, 2010; Oti & Brunner, 2007). Sometimes genetic disorders are in-herited in next generation. Heredity is caused by the deoxyribonucleic acid (DNA) (OConnor & Crystal, 2006) and in humans cells typically have 46 chromo-somes, which are arranged in 23 pairs. Each of the pairs consists of a chromosome from the paternal and a chromosome from the maternal line. There are genes on every chromosome. A gene or group of genes regu-lates traits. 

However, the possibility of a defective gene being present in either parent and being passed on to the offspring can be known by using genetic testing. So, prior to getting married, it is important to know a couples propensity for certain diseases that will be passed on to their unborn children (Odelola et al., 2013). It has been found that a number of well-known disorders are linked to inherited gene mutations. There is a growing public health crisis in Bangladesh due to the prevalence of non-communicable diseases (NCDs) for example cardiovascular disease, cancer, diabetes, and chronic respiratory disease (Hiremath & Hiremath, 2012). Nearly 60% of deaths in Bangladesh are attri-butable to NCDs (Ahmed et al., 2017). On the con-trary, it is estimated that five to ten percent of cancers are caused by the hereditary factors (Lu et al., 2014; Stanislaw et al., 2016). Cancer such as colorectal cancer and breast cancer are included in this category. Hereditary diseases also include conditions that affect the blood, such as thalassemia, sickle cell anemia and hemophilia. Mutation in genes such as the hemoglobin C gene, are responsible for the development of hemo-philia in next generation (Chin & Tham, 2020). People are concerned about the potential dangers associated with their genomic disorder and the suitability of genetic testing (McGowan et al., 2013). The field of medical genetics focuses on using advances in genetics research and technology to address a wide range of healthcare issues (Thong et al., 2018; Uddin et al., 2022; Mantere et al., 2019).

The demand for genetic testing has increased in both clinical and direct-to-consumer settings as a result of technology advancements, decreased testing costs, and greater public awareness (Campion et al., 2019). It can therefore be used to inspect for mutations or genetic variants that raise the risk of developing a wide range of diseases, to determine the effectiveness/dosage of therapeutic medications, and to identify how an indivi-dual would react to a certain food or allergen (Altaany et al., 2019). Understanding the ones own or ones familys genomic risk may be affected by health lite-racy, which is influenced by cultural, societal, and per-sonal variables (Parker et al., 2003). Studies show that there is limited awareness about genetic testing, inclu-ding newborn screening, among the general public in both developed and developing countries. The inclu-sion of genetics in medical curriculum at both the undergraduate and graduate levels have become an urgent matter in recent years. Knowledge of genetics and the ability to counsel individuals and families should be prerequisites for every subspecialty in the field of medical science (Kirklin, 2003). In Bangla-desh, there is a necessity for additional research to explore the public perception of genetics as well as their attitudes toward genetic testing. For individuals, especially students, it is vital to have a rudimentary understanding of genetics in order to comprehend genetic testing and its possible benefits. Because the students perceptions and knowledge of genetic testing can assist the broader public in gaining foundational knowledge, raising awareness, and addressing challen-ges, misunderstandings, and information deficits in this field. However, the perspective of students in Bangla-desh on genetic testing is still somewhat limited. Therefore, it is essential to conduct an evaluation of students overall knowledge, awareness, & perspec-tives regarding genetic testing for hereditary disorders. This survey study required to address a research gap by examining Bangladeshi undergraduate & graduate students knowledge, awareness & perceptions of genetic testing regarding hereditary disorders. 

Study design

A cross-sectional study was carried out over the three-month period between December 2022 and February 2023. This population-based cross-sectional study looked at how undergraduate and graduate students in Bangladesh understood, felt about, and the perceived genetic testing for inherited disorders. The study was conducted using both qualitative and quantitative data. Participants have to be current students from various Bangladeshi universities. A total of 408 graduate and undergraduate students who participated in the study had backgrounds in life sciences as well as other subjects besides molecular life science and health science. They were citizens of the Bangladesh with a range of socioeconomic statuses and educational insti-tutions, could speak in English, and were between the ages of the 18 and 50. To find out how undergrads studying molecular life sciences and health felt about genetic testing for hereditary disorders, a questionnaire was developed and updated online based on one from research by Hong-Wai Tham (Q article). Prior to the data collection, each and every participant was the properly informed of the studys objectives.

Fig. 1: Students demography.

Sampling and Data collection

The questioners consist of 38 questions, which were divided into 4 sections: Part-1 consisted of demogra-phic data such as ages, gender, and educational degree. Part-2 consisted of 10 multiple choice questions rela-ted to the knowledge of genetic testing. Part-3 consis-ted of 9 multiple choice questions related to the aware-ness of genetic testing. Part-4 consisted of 13 multiple choice questions related to the perception of genetic testing. Key definition of Genetic testing, Molecular diagnostics, Genome, Proteome & Inherited diseases/ Genetic disorder/Hereditary disorder was provided to the participants in the instructions section of the survey. There were yes/no/may be questions in the survey. The survey also included the multiple-choice questions and a Likert scale for rating of agreement with various statements (i.e., agree, strongly agree, neutral, disagree, strongly disagree). An introductory cover page was attached describing the purpose and objectives of the study and inviting the students to participate in it.

Statistical analysis

All categorical variables were presented as frequencies and percentages, including participant demographics, professional information, and responses to questions about the participants opinions about genetic testing. SPSS software version 26 and Microsoft Excel were used for the data analysis. Using descriptive statistics, proportions were calculated. The knowledge, aware-ness and perception of genetic testing for hereditary disorder survey responses were compared to these attributes using the Chi-square test. 

The p values were determined by chi-square analysis. All statistical tests were performed with a significance threshold of 5%, and the odds ratio (OR) and correspondence 95% confidence intervals (CI) were computed.

Table 1: Total and percentage of the respondents answers pertaining to knowledge of genetic testing.

*Correct answer

Table 2: P-values for the respective variable pertaining to questions on knowledge of genetic testing.

*Significant value

Fig. 2: Respondents knowledge of genetic testing.

Table 3: Total and percentage of the respondents answer pertaining the awareness of genetic testing.

Table 4: Total and percentages of respondents answers pertaining to awareness of genetic testing.

*Significant value

Fig. 3: Respondents awareness of genetic testing.

Table 5: Total and percentage of the respondents awareness pertaining to perception of genetic testing.

Table 6: P-value for the respective variables pertaining to questions on perception of genetic testing.

*Significant value

Fig. 4: Respondents perception of genetic testing.

Basic demographic data

A large percentage of respondents, 65.9%, fall within the age of 18 to 26. When it comes to the educational attainment of survey participants, 59.8% of them were bachelor degree. Interestingly, the substantial portion of the defendants studying science related subjects. In fact, 78.9% of the survey participants came from such fields.

Knowledge of genetics testing for the hereditary disorders

In the latest research, the majority of participants were familiar with genetic testing. From Table 1 it is seen that about 70.1% of the respondent know that genetic diseases or the inherited diseases can be diagnosed by genetic testing. A notable portion of respondents, acc-ounting for 33.2%, displayed doubt regarding the efficacy of genetic testing in reducing the occurrence of genetic disorders. Moreover, a considerable per-centage of them, that is, 39.2% were not aware about the concept of the prenatal screening, which refers to testing for sicknesses or abnormalities of the fetus and embryo before delivery. Additionally, a large propor-tion of the respondents, which was 37.4%0 lacked knowledge of the fact that genetic testing can also be utilized for identifying different kinds of cancer. The survey results indicate that a large proportion of the respondents possess a sufficient understanding of the genetic examination. This fact ascribed that the majo-rity of participants come from life science and health science disciplines. As per Table 2, their level of the knowledge regarding genetic testing appears to be linked to their area of specialization, with a P-value of 0.004 indicating a statistically significant relationship.

Understanding genetic testing for the hereditary conditions

Table 3 illustrates that the most participants (66.9%) indicated their readiness to undergo genetic testing. The survey also inquired about the potential providers of the genetic testing, and the results showed strong support (67.9%) for the genetic testing to be conducted only in the hospitals under a doctors prescription, while a considerable proportion (47%) favored a ban on the scale of genetic testing kits in stores. Addi-tionally, a substantial number of participants (78.5%) concurred that public awareness and understanding of genetic testing are the crucial. Overall, the participants showed substantial comprehension of genetic testing for hereditary conditions, with notable differences based on their areas of study. The statistical analysis, presented in Table 4, reveals that these variations were significant, with a p value of 0.022.

Perceptions of the genetic testing for hereditary disorders

Based on the findings presented in the Table 5, the majority of respondents (81.6%) believed that genetic testing is the essential. Among them, most agreed that genetic testing is primarily used for preventive care purpose (62.2%) and should be made available to all newborns (66.5%) and the pregnant women (62.7%). Furthermore, the participants unanimously agreed that there is a need to raise awareness about genetic testing (80.7%) and acknowledged that insufficient education and knowledge could give rise to ethical concerns associated with genetic testing practices (65.2%). As a result, a significant portion of the participants (72.2%) felt that government intervention, such as the imple-mentation of laws and policies, is necessary to address ethical issues related to the use of the genetic testing. Table 5 shows that although the respondents generally held positive views about genetic testing, a consider-able number remained neutral when questioned about the potential adverse consequences of genetic testing. Specifically, 41.9% of the participants were neutral on the issue of whether genetic testing interferes with nature, and 35.8% remained neutral on the topic of the whether genetic testing goes against their religious beliefs. In contrast, a smaller proportion of respondents disagreed with these statements (26.4%) compared to those who agreed with them. In accordance with the data presented in Table 6, the respondents attitudes towards genetic testing were positive. This finding can be described by the variations observed in their ages, educational backgrounds, and fields of study.

The findings of our research indicate that some of the students have insufficient knowledge regarding genetic testing for hereditary disorders, and their awareness of the topic is also lacking. In comparison to non-life science students, those enrolled in the life science pro-grams displayed more substantial knowledge and the higher levels of awareness. This outcome can be linked with the increased coverage of the genetic testing in Bangladesh through various channels such as academic publications, the media, and public awareness camp-aigns (Hosen et al., 2021; Yesmin et al., 2018; Akter et al., 2022). This heightened exposure has led to a better understanding of genetic testing for hereditary condi-tions among the general population. The comparable observations were made in other regions of the world, such as the Middle East, for example Jordan, where a major percentage of individuals acquainted with gene-tic testing (Hashemi-Soteh et al., 2019).  Further-more, a significant number of individuals in northern Iran have shown keen interest in availing genetic counse-ling services and undergoing genetic testing prior to marriage.

Awareness of genetic testing for hereditary disorder

The majority of respondents, 66.9%, indicated their readiness to the undertake genetic testing, while 6.3% were opposed to the idea and 26.7% were neutral. Most of the individuals (78.9%) willing to the undergo genetic testing are students in the life sciences. This finding is consistent with a study conducted in the U.S., where 45% of the general population was aware of genetic testing (Krakow et al., 2018). A similar trend was observed in Malaysias King Valley, where 50.2% of the public had knowledge about genetic testing. Moreover, research by Hann et al. (2017) and Cheng et al. (2016) highlighted that a significant obstacle preventing patients from participating in genetic testing is the lack of access to genetic infor-mation (Hann et al., 2017). According to Cheng and colleagues, two major factors that influencing partici-pants readiness to undergo genetic testing are signifi-cant expense associated with testing and concerns regarding potential discrimination. Other factors like how a test is offered, method of testing and perceived risk is also influencing to take the decision (Marteau & Croyle, 1998). The factors mentioned were not investi-gated in this study. However, the research demon-strated that healthcare professionals and genetic coun-selors could significantly contribute to the improving patient care. This could be helping patients to under-stand and appreciate genetic testing, and boost their interest in undergoing such tests. Many studies have exposed the role of healthcare providers and genetic counselors for increases genetic testing uptake among general patients. For example, a study by Kaphingst et al. found that patients who received counseling from a genetic counselor were more likely to undergo genetic testing than those who did not. The study also found that healthcare providers could play a key role in the increasing patients interest in genetic testing by providing accurate information and addressing their concerns (Chen et al., 2018). Likewise, a study by the DeMarco et al. found that patients who received genetic counseling before testing reported higher levels of knowledge, understanding, and satisfaction with the testing process. The study also suggested that genetic counselors could help to mitigate patients concerns about genetic discrimination by providing information about the legal protections available to them (DeMarco et al., 2004). The respondents of the study strongly endorsed the idea that genetic testing should only be conducted in hospitals, under the supervision of a doctor and with a valid prescription. Furthermore, the majority of participants indicated their objection to the sale of genetic testing kits in retail stores or online platforms. Several reports have investigated patients attitudes and the preferences towards genetic testing. 

While no comparable studies were identified in Bang-ladesh, Koufaki et al. discovered in their research that most participants favored genetic testing being carried out in a healthcare environment with the support of a trained healthcare professional. The study also found that patients had concerns regarding the accuracy and reliability of direct-to-consumer genetic testing kits and the potential for harm resulting from the misuse of genetic information (Koufaki et al., 2022). Moreover, in keeping with the findings of previous studies, most of the study respondents expressed their agreement regarding the significance of the publics perception and awareness of genetic testing (Marzuillo et al., 2013). While no comparable studies were identified in Bangladesh, Koufaki et al. discovered in their research that most participants favored genetic testing being carried out in a healthcare environment with the support of a trained healthcare professional.

Perception of genetic testing for the hereditary disorders

Over half of the participants in the study acknowled-ged the significance of genetic testing in terms of the preventive care and agreed that genetic testing should be made available to all pregnant women and neonatal babies (Table 5). This result can be attributed to the respondents life science and health science back-grounds, which may have made them more cognizant of the susceptibility of pregnant women and new born babies to the inherited disorders. Although no similar research studies were found in Bangladesh, a study conducted among university students at the Inter-national Islamic University Malaysia revealed a comp-arable result. In this study, a notable portion of respon-dents concurred that it is advisable to the encourage prenatal screening for pregnant women with a family history of genetic disorders (Associate Professor Dr. Zaliha Ismail et al., 2021). Almost 44% of the respon-dents did not take a clear stance when asked if genetic testing interferes with nature and goes against their religious and personal beliefs. In addition, approxi-mately 40% of participants agreed with these state-ments, and this could be linked to their ethnic back-ground. Previous research conducted in New York City has shown that individuals perceptions of the advantages and drawbacks of the genetic testing are influenced by their ethnic and the racial identities. (Sussner et al., 2011). Most participants in the survey acknowledge the significance of genetic testing. How-ever, they believe that there is a need to increase awareness and education about genetics and available tests to avoid ethical issues related to genetic testing. As indicated in Table 5, participants propose that the government should enact legislation and policies to guarantee the secure and effective utilization of genetic testing. These regulations should prioritize consumers advantages, including their convenience for medical purposes and insurance coverage. The authors of a different study conducted in Bangladesh discovered that inadequate knowledge and unfavorable attitudes towards cancer among healthcare professionals could lead to suboptimal care delivery in rural areas (Mubin et al., 2021). Recent studies have highlighted that a major challenge faced in California, Malaysia, the Netherlands, and Italy is the limited understanding of genetic testing among healthcare professionals (Amini et al., 2014; Qian et al., 2019; Baars et al., 2005; Mar-zuillo et al., 2013). However, to promote the benefits of genetic testing without running into problems, we need a balance between what scientists know & what the public understands. Remember, not everyone in the public is a scientist, so the information about genetic testing should be easy for everyone to grasp.

Strength and limitations

The results of the study may not apply to the broader population of Bangladesh or other nations as it solely focused on undergraduate and graduate students from a limited number of universities in Bangladesh. The study neglected to investigate the reasons that underlie the participants opinions and attitudes towards genetic testing, which could have furnished a more profound comprehension of their perspectives. Although the study achieved a complete response rate of the 100%, there may be inaccuracies and biases due to selection of the study location and respondents. The chosen participants are aged between 18 to 50 years & consi-dered to have a greater capacity to comprehend the studys subject matter. Despite limitations in respon-dent selection, this survey was conducted on a large scale, covering the entirety of Bangladesh, which sets it apart from other comparable research that was con-ducted on a smaller scale. In addition, this study repre-sents the update on Bangladeshis knowledge, aware-ness, and perceptions of genetic testing for hereditary disorder. As a result, this study revealed the basis for future similar studies that can be conducted on an even large scale, providing a more precise assessment of Bangladeshis attitudes towards genetic testing.

Globally, the acceptance of genetic testing for inheri-ted illnesses is increasing, including in Bangladesh. This survey revealed that most of the participants were familiar with genetic testing and willing to undergo it. Individuals with backgrounds in life science and health science demonstrated a stronger grasp of genetic test-ing for hereditary diseases in comparison to those from different fields. Despite this, a small number of respon-dents held unfavorable views on genetic testing. To diminish this stigma, efforts should focus on enhancing public knowledge and awareness. Public education about the benefits of genetic testing could be bolstered through media campaigns and initiatives organized by both government and non-governmental entities, such as seminars and workshops. Furthermore, the imple-mentation of laws and policies is essential to ensuring the secure and efficient utilization of genetic testing practices.

The authors extend their heartfelt gratitude to the participants of this study. They would also like to the express their appreciation to the esteemed faculty members of various universities who played a pivotal role in encouraging their students to take part in this research in Bangladesh.

Each author affirmed that they do not have any com-peting interests.