Abstract
This paper will explore the general relation between genetic diseases and contemporary medicine. However, genetic and genomic studies are predominantly based on general populations in the Middle East. The literature review is based on a quantitative research design and uses Google Scholar and PubMed as the main sources for information. The findings of the research depend on a questionnaire that revealed that women in Bahrain were knowledgeable about genetics. The results showed that around 83.2% were quite knowledgeable about Down syndrome, while 16.7% were not. In conclusion, the role of genetics in modern medicine is transformative, offering new pathways for diagnosis, prevention, and treatment. While challenges remain, a general connection towards modern medicine in many ways.
Introduction
Two decades ago, the sequence of the first human genome was published. In 1949, the first textbook of human genetics was published, and the American Journal of Human Genetics was founded. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in subsequent years revealed that many human diseases, including cancer, have genetic causes. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. Genetic counseling, as a new concept, became a basis for improved patient care. Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders. There were major successes, including chromosomal analysis, prenatal diagnosis, and newborn screening for inborn errors of metabolism. The Human Genome Project improves our understanding of the molecular genetic basis of inherited and complex diseases such as diabetes, schizophrenia, and cancer. Information from the human genome sequence is essential for several antenatal and neonatal screening programmes.
Furthermore, this research will discuss Preventive Medicine: Integrating genomic sequencing into routine healthcare transforms contemporary medicine from disease management to true preventive care. Contemporary medicine faces the critical challenge of ensuring equitable access and preventing genetic discrimination in healthcare systems. Increasingly, that is how genetics and contemporary medicine are fundamentally intertwined.
Literature review
Genetics started as a real science after 1900, when scientists began studying traits in fruit flies, bacteria, and viruses. Around 1949, textbooks and professional organizations were created to teach people about genetics. Scientists found that many diseases, including cancer, have genetic causes.
Since 2011, research programs utilizing next-generation sequencing for the management of different genetic diseases and cancer, other multigenic conditions, the workup of undiagnosed conditions, and the evaluation of disorders of the newborn period have been initiated, along with projects that identify clinically actionable variants and exploring the ethical and social implications of reporting these findings.
The National Human Genome Research Institute, in close collaboration with its research community, is pursuing an ambitious research agenda to facilitate and promote the implementation of genomics in clinical care.
A physician can now perform chromosomal analysis (checking DNA structure), including parental karyotyping before conception, prenatal diagnosis, and newborn screening. Recently, NIFTY testing (Non-Invasive Prenatal Testing) has become a crucial tool and a marker test for detecting chromosomal abnormalities during pregnancy. Genetic counseling has become a foundation for better patient care and personalized medicine treatments tailored to each person's DNA. Genetics has transformed the landscape of modern medicine, offering profound insights into the mechanisms of health and disease. As our understanding of DNA, genes, and heredity has expanded. Modern genetic research has unveiled the molecular underpinnings of various conditions, including cancers, cardiovascular disorders, and inherited diseases. This knowledge enables healthcare professionals to approach diagnosis and treatment with unprecedented specificity.
Genetic testing has revolutionized the diagnostic process. Techniques such as whole-genome sequencing and exome analysis allow for the identification of mutations responsible for hereditary diseases. For instance, the detection of BRCA1 and BRCA2 mutations has become a cornerstone in assessing breast and ovarian cancer risk. Additionally, prenatal genetic screening provides early insights into chromosomal abnormalities, helping families make informed decisions about it. Clinical genomics exists at the intersection of sequencing-led discovery within genetics in population cohorts and historical low-throughput approaches to genetic diagnosis in patients.
Translation of genomic discoveries into patient care is slowly becoming a reality in developed economies around the world. In contrast, low- and middle-income countries (LMIC) have participated minimally in genomic research for several reasons, including the lack of coherent national policies, the limited number of well-trained genomic scientists, poor research infrastructure, and local economic and cultural challenges. Recent initiatives, such as the Human Heredity and Health in Africa (H3Africa), the Qatar Genome Project, and the Mexico National Institute of Genomic Medicine (INMEGEN), that aim to address these problems through capacity building and empowerment of local researchers, have sparked a standardized shift.
Since the decoding of the human genome in 2001-2003, there has been a rapid development in genetic testing technologies. Many countries have been competing to establish population genetic maps, represented by national genome programs specialized for each country, such as the United Kingdom, Singapore, Japan, and others.
In the context of this, the Kingdom of Bahrain took pioneering steps, launching the National Genome Program in 2019, which aimed to collect 50,000 samples from citizens to draw Bahrain’s genetic map and create a comprehensive database that contributes to monitoring and preventing genetic diseases. The collection of the required number of samples was completed before the specified period. The rapid recruitment of participants highlights the high level of public awareness and institutional support for genomic initiatives within Bahrain.
Methods
This study employed a quantitative research design to examine how women in Bahrain are informed regarding modern genetics and medicine. A sample of 19 women from diverse ethnic backgrounds residing in Bahrain was selected for the study. Data collection was conducted by utilizing a structured Google Forms questionnaire distributed via targeted digitally by whatsapp to ensure a varied demographic representation.
The pie chart shows ages 20 to 45. Out of the 3 sections, 52.6%(40-45) is the main age range of the participants.
In this study, the researcher compared women’s knowledge of genetics and genetic counselling. The researcher chose women specifically because they go through these situations, such as being diagnosed with genetic diseases when they’re pregnant. The researcher aims to determine how knowledgeable women in Bahrain are about genetics. The researcher distributed the questionnaire to 19 people; the mean (age group) was 20 to 45. The researcher presented the results as bar graphs and pie charts. Around 83.2% were quite knowledgeable about Down syndrome, 94.7% have not been diagnosed with a genetic disease, while 16.7% don’t know Down syndrome, and 5.3% have been diagnosed with a genetic disease. 15.8% of the women were pregnant during the questionnaire, while 84.2% weren't.
Limitations
In terms of a research perspective, genetics was rarely integrated into medical contexts, as historical perspectives often decoupled the two fields. This separation stems from early misconceptions regarding hereditary traits, such as an overemphasis on single-gene traits rather than complex, polygenic variations influenced by multiple genes and environmental factors. While modern precision medicine successfully bridges this gap by shifting healthcare from reactive treatments to proactive, individualized care, significant limitations remain. Specifically, despite advances in DNA analysis for predicting disease risks and tailoring drug dosages, the clinical application of precision medicine is often constrained by high socioeconomic costs, data privacy concerns, and the immense difficulty of accurately mapping multi-gene interactions in diverse populations. Though single-gene disorders are easier to target, predicting risks for complex diseases (like heart disease or diabetes) remains limited because environmental factors and lifestyle choices still heavily interact with genetic data. Current genetic databases are overwhelmingly based on populations of European descent, limiting the clinical efficacy and accuracy of these proactive treatments when applied to globally diverse patient demographics. The research in this paper also contains different limitations. First, the study is constrained by a relatively small sample size, which may limit the generalizability of the findings. Second, due to time constraints, the scope of the literature review was narrowed due to project constraints. Third, this study utilizes a cross-sectional design rather than a longitudinal approach, preventing the tracking of data trends over an extended period.
Discussion
The exponential growth of diagnostic technologies in genetics in the past decade has enabled state-of-the-art evaluation of newborns and infants. Nowadays, the technology provides genetic testing on a single cell in an embryo before implantation and to extract fetal DNA from maternal plasma to test for significant genomic imbalances. With the growing awareness of the role of genetics in human diseases, susceptibility to complex diseases, and innate responsiveness to environmental triggers such as drugs and toxins, it is crucial for physicians to implement individualized medicine in clinical practice and apply the best diagnostic and therapeutic tools for pediatric care.
An illness or health condition caused by an abnormality in a person's DNA is known as a genetic disease. There are many ways to get diagnosed with genetic diseases these days. In this research, once the distributed questionnaire was completed, it provided another way to understand how many people know about Down syndrome. The researcher found that during pregnancy, a mother can do a blood test called the NIFTY test to rule out Down syndrome or other genetic problems or other different syndromes. Research focused on Down syndrome has continued to gain momentum in the last several years and is advancing our understanding of how trisomy 21 (T21) or other syndromes or genetic problems can be diagnosed on time.
Figure 1A: shows neonatal karyotyping for female infants, which shows chromosomal study evaluating 23 pairs of chromosomes. It's a standard test to confirm aneuploidy, such as Down syndrome.
Figure 1A: Diagnostic tests available for neonatal testing. (A) A normal karyotype in a female infant (resolution of 5–7 Mb). Chromosomal study evaluating 23 pairs of chromosomes is the standard test for confirming aneuploidies such as Down syndrome (trisomy 21) and Turner syndrome (45, X) in newborns.
In Bahrain, the exact number of newly diagnosed Down syndrome cases in Bahrain, 2024 is not published officially. However, local health organizations and the Bahrain Down Syndrome Society estimate the overall affected population at roughly 800 individuals, with 16 to 20 babies born with the condition each year and for other genetic diseases, such as Thelisima, The precise number of thalassemia patients actively receiving care fluctuates due to ongoing diagnoses and treatments, though historical records indicate a total of 88 Bahraini patients and 21 non-Bahraini patients (under 35 years old have been documented in overview studies, Sickler cells have no "exact" amount, but officials estimate that over 6,700 to 8,500 people are living with sickle cell disease (SCD) in Bahrain.
The study by Christine Patch, Anna Middleton (2018), about Genetic counselling in the era of genomic medicine, states that, ‘‘Genomic technology can now deliver cost-effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. In this research we found that there are many women's age within 20 and 45 years of age from 83.3% are women who know about Down syndrome, and they had genetic counselling, almost 10.5% and 89.5% they did not go through the genetic counselling, either because they don't need it or they don't prefer to go through the counselling process. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.’’
Newborn Genomic Screening Research Program,(2025): This program aims to test all newborns in Bahrain to proactively identify genetic diseases early, enhance early interventions, and build a national genomic database for future generations.
It is a pioneering genomic Newborn Screening Research Program that includes all newborns in Bahrain. A small blood sample is taken from the umbilical cord and stored in the biobank using specialized methods to conduct whole genomic sequencing in the gradual phases of the program. This program aims to achieve several sustainable goals, including:
Early detection of genetic diseases and the development of a comprehensive national health outlook for future generations.Enhancing treatment opportunities and early interventions to reduce mortality rates and long-term complications.
Further, supporting genetic research and advancing personalized medicine and its applications in Bahrain and the region. Assessing the healthcare costs of genetic diseases and formulating comprehensive policies for proactive healthcare.
Conclusion
In conclusion, the role of genetics in modern medicine is transformative, offering new pathways for diagnosis, prevention, and treatment. While challenges remain, a general connection towards modern medicine in many ways. A majority of women are knowledgeable about genetic testing.
The integration of genetic insights into healthcare systems promises a future where medicine is not only reactive but also proactive and tailored to individual needs. The ongoing advancements in this field underscore the importance of continued research, ethical vigilance, and public engagement to fully realize the potential of genetic medicine.
During the advancement in modern medicine has given us options to get a genetic disease diagnosis early, as pre-counselling is very important to know, and people should be aware of before getting any planning a pregnancy. During pregnancy, women should do the proper genetic testing to confirm the diagnosis at an early stage. Those who already have a family history of genetic diseases should go to genomic centers. In all of the Gulf countries, they have this type of setup to prevent future complications.
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