Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences

Abstract

Background

Advances in clinical genetics have significantly impacted modern healthcare, making genetic knowledge essential for today’s medical professionals. It is crucial for general physicians to recognize when genetic or genomic testing is appropriate for guiding treatment decisions. In response to this need, Dow University of Health Sciences (DUHS) has initiated a two-week dedicated clinical genetics module for 4th-year medical students, to enhance the curriculum with more focused approach. This comprehensive module covers basic genetics, inheritance principles, molecular genetics, genetic epidemiology, and the clinical application of genetic knowledge. It also addresses the social, legal, and ethical implications of genetic information, preparing students for patient communication and genetic counseling. This article discusses the importance of teaching clinical genetics to medical students, presents survey findings, examination results, and underscores the significance of including genetic education in medical curricula to enhance clinical utility and patient care.

Methods

The genetic module was constructed to equip students with skills for personalized medicine and online tutorials for navigating genomic databases. Upon completion, students from both Dow Medical College (DMC) and Dow International Medical College (DIMC) completed a survey. Examination results and the student’s responses of the survey were analyzed using SPSS version 23.

Results

Among the 125 surveyed students, 72% were from the DMC and 28% were from the DIMC, with a median age of 22 years and predominantly male (79.2%). Approximately 59% had previous exposure to genetics. The module received positive feedback: 58.4% rated it excellent, and 37.6% rated it good. Content clarity and lecture engagement were highly rated, with over 90% finding them clear and engaging. According to 90.4% of the respondents, learning objectives were well met. The inclusion of more genetic content in the MBBS curriculum was considered important by 87.2%. Medical genetics was deemed highly relevant to future practice by 93.6%. The module significantly enhanced understanding of patient care, with strong overall student satisfaction. In the Genetic Module Exam, DMC students had a pass rate of 95.69%, while DIMC students had a pass rate of 79.62%. Overall, 91.46% of students passed the exam.

Conclusion

The clinical genetics module at DUHS was well received, effectively enhancing students’ understanding of genetic principles and their clinical applications. Students highly rated the module for content clarity, lecture engagement, and relevance to future medical practice. There is a strong demand for more genetic education in the MBBS curriculum, highlighting its importance in preparing future healthcare professionals.

Supplementary Information

The online version contains supplementary material available at 10.1186/s12909-025-07784-6.

Introduction

With tremendous advancements and research in the field, knowledge of clinical genetics has become a necessity for modern-age healthcare providers [1]. It has transformed the dynamics of the diagnosis, cure, and prevention of hereditary and rare diseases [2]. Personalized medicine has already come into play in terms of genetics-based therapeutic practices, and it is also shifting the way healthcare will be provided in the future [3]. Due to technological advancements and the bioinformatics revolution in molecular biology research, medical professionals are now able to screen for DNA, RNA, and protein markers [4]. Although medical professionals can now use internet databases and alternatives to receive tailored genomic information, these resources are helpful only if the user has a firm grasp of contemporary genetics and genomics [5]. Approximately 10% of the population seeking primary care are affected by genetic conditions or may carry pathogenic variants in their genome. Therefore, general physicians should be aware of circumstances in which genetic or genomic investigations may be useful in guiding treatment decisions. This underscores the need for a dedicated genetic module to be incorporated into medical curricula, providing crucial insight into medical genetics [6]. To overcome these challenges, Vice Chancellor DUHS has taken initiative and decided to use a clinical genetics module for 4th -year medical students. It was first of its kind in our region, and for the purpose we created and executed a thorough medical genetics module to provide medical students with the information and abilities they needed. This module was thoughtfully designed to address a wide range of topics relevant to modern medical education, including basic genetics, inheritance principles, molecular genetics, genetic epidemiology, and the clinical use of genetic knowledge in the diagnosis and treatment of hereditary diseases with examples of real-life scenarios. We tend to embrace certain topics of cultural sensitivity, such as the social, legal, and ethical consequences of genetic information, and trained students to address the challenges of patient communication and genetic counseling.

It is highly important to incorporate robust genetic education into the medical curriculum. Medical personnel need to be well equipped because in this era genetics are continuously evolving in a variety of areas of medical practice, from pediatrics and neurology to cardiology and oncology. The next generation of doctors needs to be well equipped to provide customized care for patients and develop precision medicine [7].

This study was designed to evaluate the effectiveness and relevance of the Medical Genetics Module in enhancing medical students’ knowledge, confidence, and preparedness for clinical practice. In this article, we describe the importance of teaching clinical genetics to medical students and present the findings from our survey. Our results defined the significance of including genetic education in medical curricula and explained how it can enhance the ability of passionate doctors to demonstrate how it might improve aspiring doctors’ aptitude for the clinical utility of genetic knowledge. The authors hope this study will expand the inclusion of thorough genetic curricula in other medical schools as well.

Methodology

The module was designed and crafted by the senior clinical geneticist Dr. Salman Kirmani from Agha Khan University, with input from ACMG (American College of Medical Genetics) guideline, and the final version was re-evaluated by the curriculum review committee DUHS. The curriculum outline for a two-week Medical Genetics module for 4th-year medical students in Pakistan. It emphasizes fundamental principles, common genetic disorders, and their clinical implications, with a particular focus on the role of consanguinity in autosomal recessive disorders prevalent in the region. The curriculum also incorporates aspects of cancer genomics and equips students with the skills to not only understand genetic disorders but also to translate their knowledge into actionable insights for patient care, a crucial skill for effective practice in the age of personalized medicine (Table 1). The course instructors provided students with access to online tutorials or resources for navigating specific genomic databases, emphasizing the importance of remaining updated with the rapidly evolving field of medical genetics and the ongoing development of new databases and interpretation tools. By the completion of the module conducted separately in lecture halls of the both campuses, students from both the campuses DMC and DIMC of DUHS were requested to complete the survey (supplementary file attached as appendix). Analysis of the responses was performed by using SPSS version 23 for social sciences. Further, the results of the module examination were also analyzed and reported which included a total of fifty multiple-choice questions designed to assess students’ understanding of the module content.

Table 1.

Module content

Topic	Content	Hours	Instructor
Introduction to Medical Genetics	1. History of Medical Genetics, 2. Chromosomal structure and function 3. Cell division and Mitosis vs. Meiosis 4. Basic principles of DNA structure and function 5. Introduction to Mendelian inheritance patterns (autosomal dominant, autosomal recessive) with emphasis on autosomal recessive disorders 6. Introduction to pedigrees and their use in genetic analysis	2 h	Dr. Salman Kirmani/Dr. Misbah Hanif
Consanguinity and Its Role in Autosomal Recessive Disorders	1. Definition and types of consanguinity (first-cousin marriage, etc.) 2. Increased risk of autosomal recessive disorders with consanguinity 3. Calculating recurrence risks based on parental consanguinity 4. Importance of premarital counseling and carrier screening in high-risk populations	2 h	Dr. Salman Kirmani/Dr. Misbah Hanif
Mendelian Disorders	1. Common autosomal recessive, dominant and x-linked disorders prevalent in Pakistan (e.g. Neurofibromatosis Type 1, Beta-Thalassemia, Familial Hypercholesterolemia, G6PD Deficiency etc.) 2. Penetrance, expressivity, and genetic heterogeneity in Mendelian disorders 3. Introduction to genetic counseling for Mendelian Disorders	2 h	Prof. Furqan Bari
Chromosomal Abnormalities	1. Types of chromosomal abnormalities (aneuploidy, structural abnormalities) 2. Down syndrome, Turner syndrome, Klinefelter syndrome, and other common examples 3. Prenatal and preimplantation genetic diagnosis of chromosomal abnormalities, including noninvasive prenatal screening (NIPS)	2 h	Prof. Furqan Bari
Non-Mendelian Inheritance and Complex Traits	1.Polygenic inheritance, multifactorial disorders, and environmental interactions 2. Examples of complex traits (e.g., cardiovascular disease, diabetes, cancer etc.) 3.Introduction to pharmacogenetics and personalized medicine	2 h	Prof. Mushtaq Hussain
Molecular Genetics and Genetic Testing	1.DNA mutations (point mutations, insertions/deletions) 2.Techniques for mutation detection (e.g., Sanger sequencing, next-generation sequencing) 3.Types of genetic tests (diagnostic, carrier screening, prenatal diagnosis) with emphasis on tests relevant to autosomal recessive disorders in Pakistan 4.Ethical considerations in genetic testing and counseling	2 h	Prof. Mushtaq Hussain
Genetic Disorders by Organ System - Focus on Pakistan	1.Cardiovascular Genetics (e.g., Familial Hypertrophic Cardiomyopathy) 2.Neurological Genetics (e.g., Canavan disease) 3.Metabolic Genetics (e.g., Urea Cycle Disorders) - Focusing on prevalent diseases in Pakistan	2 h	Dr. Salman Kirmani/Dr. Misbah Hanif
Genetic Disorders by Organ System – Continued	1.Musculoskeletal Genetics (e.g., Osteogenesis Imperfecta) 2.Hematological Genetics (e.g., Beta Thalassemia) with emphasis on regional variants 3.Dermatological Genetics (e.g., Albinism)	2 h	Dr. Salman Kirmani/Dr. Misbah Hanif
Introduction to Cancer Genomics	1.The role of genes and mutations in cancer development 2.Types of cancer-associated genes (oncogenes, tumor suppressor genes) 3.Understanding somatic vs. germline mutations in cancer 4.Applications of cancer genomics in diagnosis, prognosis, and treatment selection	2 h	Prof. Furqan Bari
Introduction to Precision Medicine and Gene-based therapies	1. Personalized Medicine based on genetic information 2. Introduction to gene therapy and its applications 3. Anti-sense oligonucleotide therapy 4. Gene-editing therapies 5. Ethical considerations in gene-based therapies	2 h	Dr. Salman Kirmani/Dr. Misbah Hanif
Clinical Integration: Utilizing Genomic Databases and Interpreting Genetic Data	This session will bridge the gap between theoretical knowledge of genetic disorders and their practical application in patient care. 1. Introduction to major human genomic databases relevant to clinical practice (e.g., ClinVar, OMIM, gnomAD etc.) 2. Interpretation of genetic variants: pathogenicity prediction tools, variant classification systems (ACMG)	2 h	Prof. Mushtaq Hussain
Case Studies	1.Students will be presented with 6 real-world cases studies involving genetic testing results 2.Cases will include Down Syndrome, Spinal Muscular Atrophy, BRCA1/2 related Hereditary Breast Cancer, Huntington Disease, Hemophilia and Cystic Fibrosis 3.Students will practice interpreting the data and applying it to patient care decisions, such as diagnosis, counseling, and potential treatment options	2 h	Dr. Misbah Hanif

Learning Objectives of the module:

• To understand the basic principles of Mendelian inheritance patterns (autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive), with a focus on autosomal recessive disorders.

• To explain the concepts of chromosomal abnormalities, non-Mendelian inheritance and complex genetic disorders.

• To analyze pedigrees for the identification of modes of inheritance and genetic risks, particularly in the context of consanguinity.

• To recognize the role of consanguinity in increasing the risk of autosomal recessive disorders.

• To critically appraise the role of genetic testing in diagnosis, carrier screening, and prenatal diagnosis, considering the specific needs of a population with high consanguinity rates.

• To describe the clinical presentations, diagnosis and management of common genetic disorders across different organ systems, with a focus on prevalent autosomal recessive diseases in Pakistan.

• To apply the knowledge of medical genetics to patient care and genetic counseling, including premarital counseling for couples with a family history of genetic disorders.

• To outline the fundamental concepts of cancer genomics and its role in cancer development and progression.

• To describe the role of genomic databases and the criteria used to apply clinical interpretation of genetic test results.

Results

Among the 125 students who participated in the survey, the majority (72%; n = 90) were from DMC campus, and the remaining (28% n = 35) were enrolled on the DIMC campus. Approximately 59% of the students claimed that they had previous exposure to genetics (n = 74) in the curriculum. Module was well received by the students, the content presented in the module was perceived as understandable. Lectures were considered very engaging and learning objectives were met. The inclusion of more genetic content in the MBBS curriculum was deemed important and relevant to future medical practice. The genetic module was perceived to have enhanced understanding of patient care (Table 2). Overall, feedback indicated a high level of student satisfaction with the inaugural genetic module in medical school, as shown in Fig. 1. The 2024 Genetic Module exam results highlight the effectiveness of the current teaching methodology. The exam, with a passing score set at 50%, saw 375 out of 410 students achieve this benchmark, resulting in an impressive overall pass rate of 91.46% (Table 3).

Table 2.

Survey variables and responses of Fourth-Year medical students on genetics module evaluation at DUHS

Survey variables			N	%
Demographic and Background Information	1. Which campus are you currently enrolled in?	DMC	90	72
		DIMC	35	28
	2. Age	20 21 22 23 24	3 41 54 22 5	2.4 32.8 43.2 17.6 4.0
	3. Gender	Male	99	79.2
		Female	25	20
		Prefer not to say	1	0.8
	4. Have you had any previous exposure to genetics before this module?	Yes	74	59.2
		No	42	33.6
		May be	9	7.2
Module Quality and Delivery	5. How would you rate the overall quality of the genetic module?	Excellent	73	58.4
		Good	47	37.6
		Fair	5	4.0
	6. How clear and understandable was the content presented in the module?	Very clear	56	44.8
		Clear	62	49.6
		Neutral	7	5.6
	7. How engaging did you find the lectures?	Very engaging	63	50.4
		Engaging	58	46.4
		Neutral	4	3.2
	8. Were the learning objectives of the module clearly defined and met?	Strongly agree	54	43.2
		Agree	59	47.2
		Neutral	11	8.8
		Disagree	1	0.8
Curriculum Integration and Relevance	9. How well did the module integrate with other subjects in your curriculum?	Very well	36	28.8
		Well	64	51.2
		Neutral	23	18.4
		Poorly	2	1.6
	10. How important do you think it is to include more genetic content in the MBBS curriculum?	Extremely important	60	48
		Very important	49	39.2
		Somewhat important	16	12.8
	11. How relevant do you think learning medical genetics is to your future medical practice?	Extremely relevant	81	64.8
		Relevant	36	28.8
		Somewhat relevant	8	6.4
Confidence and Application	12. How confident do you feel in applying genetic knowledge in clinical scenarios after completing this module?	Very well	25	20
		Well	73	58.4
		Neutral	24	19.2
		Poorly	3	2.4
	13. Do you believe that this genetic module has enhanced your understanding of patient care?	Strongly agree	52	41.6
		Agree	66	52.8
		Neutral	7	5.6

Fig. 1.

Satisfaction analysis of the inaugural genetic module at the DUHS

Table 3.

Genetic module exam results 2024: performance analysis of DMC and DIMC students

Campus	Pass	Fail	%
DMC (Dow Medical College)	289/302	13/302	95.69
DIMC (Dow International Medical College)	86/108	12/108	79.62
Total	375/410	35/410
Over all pass rate			91.46

Discussion

According to the result of the 2024 module examination at DUHS, the introduction of a specialized clinical genetics module at DUHS showed a high degree of student satisfaction and a great alignment between learning objectives, instructional methodologies, and assessment outcomes. Students appreciated the clarity and the relevance of the lecture, interactive case based sessions, and faculty’s ability to engage them effectively.

In contrast, some students faced difficulties due to the extensive syllabus, long lectures, and complex subjects. A variety of recommendations were made by students to improve the genetics module for upcoming classes, including small group discussions and the addition of more case-based learning and quizzes. Additionally, students recommended cutting lecture lengths, making evaluation rules more explicit, and enhancing study aids and resources. Better communication on module logistics and exams was also requested. Overall, students expressed positive feedback about the module, particularly praising the teaching faculty but also provided constructive suggestions for improvement.

The need of clinical genetic education is crucial for cultivating competent medical practitioners, ensuring ethical practice, informed decision-making, and the responsible integration of scientific advancements and well supported in literarure [8, 9]. In recent decades, there has been remarkable progress in clinical genetics, particularly in genetic testing and precision medicine, which has greatly impacted and demanded the workforce [10, 11]. Modern medical practitioners have exceptional access to a wide range of tools that can be utilized to diagnose and treat patients based on genetic information. It also brought a variety of web tools to skillfully combine Mendelian and molecular data for precise risk assessment [5, 12] Medical students need to have a thorough understanding of genetics to provide more precise and modern care. Understanding the risks associated with preconception and pregnancy, family history and cancer, and adult-onset illnesses such as diabetes, hypertension, stroke, and osteoporosis should all be part of this information. Many medical professionals feel ill prepared to diagnose genetic disorders, make appropriate referrals, or provide genetic counseling because of fragmented medical school curricula, rapidly evolving genetics knowledge, and the misconception that genetics only applies to rare disorders. These factors have led to a greater focus on the teaching of genetics in medical school curricula [5, 8, 13]. Similar findings have been reported by The National Genetics Education and Development Centre (NHS) was established in response to the need for a coordinated strategy to integrate genetics into clinical practice; Farndon and Bennett (2008) described the Center’s approach to this end [14, 15]. In 2011, the American College of Medical Genetics (ACMG) launched a new initiative in genetics education for healthcare professionals online (ACMG Online Live Learning Center (http://tinyurl.com/3hpyuyw) [16]. The American Society of Human Genetics (ASHG) and the Association for Professors in Human and Medical Genetics (APHMG) proposed a core curriculum for medical students in late 2022 [7, 17]. More recently Ashfaq M. et al. in 2022 also highlighted the need for core clinical genetic education in terms of genetic counseling certification or master’s programs in Pakistan [18].

To set an example for integrating genetics into the curriculum, DUHS has now introduced a separate genetic module for fourth-year students, which builds on genetics concepts previously taught within other subjects. When developing modules, an evidence-based strategy was applied to maximize the impact by better meeting the needs of learners and integrating future challenges with a flexible approach [19]. The module was conducted separately in the lecture halls of DMC and DIMC, both constituent colleges of DUHS in Karachi. DIMC generally serves international and Pakistani students, while DMC mainly enrolls Pakistani students, especially those who reside in Karachi. As a result, both campuses have a diverse student base and a significant difference in the results of the module examination.

Despite their addition to the existing curriculum, the students’ responses were quite motivating for the instructors. Through the feedback of the genetic module, we received an overwhelming response from the students on both campuses. The students provided positive feedback on the course content and structure of the genetic module. They found the topics interesting and engaging, with some considering genetics as a potential career path. They mentioned the relevance of the content, particularly real-life scenarios and the use of genetic databases; moreover, they admired personalized medicine and genetic counseling. They appreciated learning about topics such as consanguineous marriage, diagnosing and treating patients, and clinical genetics. These interactive classes with case studies provided insights into real-life experiences. These case studies aimed to expose students to the clinical significance of learning genetics and foster critical thinking. Even though the dedicated session for the case studies was two hours, these six examples were selected carefully to highlight key genetic concepts. Students emphasized the importance of understanding how genetics relates to medical diseases and the significance of genetic counseling, as they will be exposed to more during their ward rotations. Overall, these elements enriched the learning experience and provided valuable insights into genetics in a medical context. Similar findings have already been reported by Falah. N. et al. in 2022 mentioned the high satisfaction of students with genetic education [20]. Haspel. RL. et al. in 2021, and Gates. RW. et al. in 2022 also reported the importance of integration of medical genetics into the curriculum for the comprehensive understanding and ease of practice of physicians [21, 22].

Although our study is limited by its small sample size, it remains crucial to highlight the high level of student satisfaction. This finding can urge others to re-evaluate the inclusion of clinical genetics as a fundamental element within the core medical curriculum for future doctors in Pakistan. In consensus with us many researchers such as Hyland. K. et al. in 2018, Cargonja. P. et al. in 2020, Gates. RW. et al. in 2022, Massingham. LJ. et al. in 2022, French EL. et al. in 2022, have already emphasized the importance of inclusivity of medical genetics in the undergraduate curriculum to cope with rapid advancement in genetics [17, 21, 23–25].

Conclusions

The integration of the clinical genetics module into the medical curriculum at DUHS has been effective and noteworthy. The significance of incorporating genetic knowledge into medical education is underscored by the high scores for lecture engagement, material clarity, and the relevance of genetics to future medical practice. Genetics ought to be presented as one of the key element of medical education right from the outset of the students’ journey into medicine. This approach is vital to shift the mindsets of next-generation medical professionals and equip them to apply foundational genetic concepts and ethical principles in their daily practice. A comprehensive understanding and appreciation of the fundamental principles of clinical genetics will empower medical professionals to navigate the evolving landscape of genomics, leverage molecular biology and bioinformatics resources effectively, and treat their patients with confidence, ethical integrity, and empathy.

Authors’ contributions

(1) MIH: Conceived the study design and research question and administered the student survey, data collection and analysis, manuscript writing. (2) MFB: Study design and data interpretation.3. MH: Study design and data interpretation. 4. NK: Interpreted data related to examination results and contributed to the analysis section of the manuscript.5. NH: Study design and provided the important intellectual concepts for manuscript writing. 6. MSQ: Conceptualization of the study and the overall program. 7. SK: Conceptualization of the study, curriculum development, supervised the integration and execution of the module within the medical curriculum, provided critical input on the interpretation of results and contributed to the overall writing and revision process of the manuscript.

Funding

None.

Data availability

No datasets were generated or analysed during the current study.

Declarations

Ethics approval and consent to participate

Informed consent was obtained from all participants, who were fourth-year medical students from DMC and DIMC. Approval for non-human exempt status for course grades was granted from the Institutional Review Board of Dow University of Health Sciences.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.