Abstract
Two decades ago, the sequence of the first human genome was published. Since then, advances in genome technologies have resulted in whole-genome sequencing and microarray-based genotyping of millions of human genomes. However, genetic and genomic studies are predominantly based on populations. Clinical trials are crucial to contemporary medicine, offering valuable insight into the safety, efficacy, and appropriate use of new treatments. As a result, the potential benefits of genomic research including better understanding of genetic diseases, early detection and diagnosis, may elude the many underrepresented populations. Here, we describe leveraging our experiences in setting up genomic studies in diverse middle eastern populations (mainly Bahrain), the purpose of the roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates. Next-generation sequencing is increasingly being used for noninvasive prenatal diagnosis, and newborn screening. This review will define some basic genetic terms and concepts, explain the gamut of genetic testing available for early diagnosis of genetic diseases, and describe some common chromosomal abnormalities, genomic disorders, and single-gene diseases relevant to neonatal medicine.
Introduction
Two decades ago, the sequence of the first human genome was published. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells and 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 genetics basis of the 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. Increasingly, genetics and contemporary medicine are fundamentally intertwined.
This research depends on the relation between genetics and contemporary medicine.
Furthermore, in this research, we’ll 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.
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.
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. Since 2011, research programs utilizing next-generation sequencing in the management of cancer and other multigenic conditions, workup of undiagnosed conditions, and evaluation of disorders of the newborn period have been initiated, along with projects identifying clinically actionable variants and exploring the ethical and social implications of reporting these findings.
Doctors can now do chromosomal analysis (checking DNA structure), like, karyotyping for the husband and wife before trying for pregnancy, prenatal diagnosis, (testing babies before birth), and newborn screening (testing babies at birth for genetic problems) , the most important now these days NIFTY test important to rule out genetic chromosome test during pregnancy.Genetic counseling became a foundation for better patient care and personalized medicine-treatments designed specifically for 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 upon 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 2002, 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, in an achievement that confirms the interest of the wise government and the awareness that Bahraini society enjoys in the health aspect.
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 utilizing a structured Google Forms questionnaire distributed via targeted digital outreach 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.
Fig; 1 pie chart shows age %
84.2% have never done a genetics test before, while 15.8% have.
Fig; 2 The pie chart above showcases if the females have ever done a genetics test before.
A majority of the women are not pregnant ( 84.2%), whilst 15.8% women are pregnant.
Fig; 3 Bar graph shows if the women are pregnant during time of survey
52.6% of the women have never done a NIFTY test before, while 47.4% have.
Fig; 4 Pie chart showcases whether the woman have done a NIFTY test before
94.7% have never been diagnosed with any genetic disease, while only 5.3% have.
Fig; 5 Bar graph shows whether the woman have ever been diagnosed with a genetics disease
83.3% have heard of Down Syndrome, while 16.7% have never heard of it.
Fig; 6 Bar graph showcases whether they are aware of Down Syndrome or not
89.5% Haven't gone for Genetic counselling, while 10.5% have.
Fig; 7 Bar graph shows whether they have ever done Genetic counselling or not.
Results
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's aim is to acquire how much women in Bahrain are knowledgeable about genetics. The researcher distributed the questionnaire to 19 people, the mean(Age group) was 20 to 45.The researcher presented the result data 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 sample size in the Methodology is a small quantity. Second, the literature review is not very lengthy, due to the short span of time the paper was done in. Third, this study is not a longitudinal basis.
Discussion
The exponential growth of the diagnostic technologies in genetics in the past decade has enabled state-of-the-art evaluation of newborns and infants. Now, we have the technology to provide 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, this gave another way to understand how many people know about down syndrome, During the researcher found that during pregnancy mothers can do a blood test called NIFTY test to rule out down syndrome or other genetic problems or other different syndromes. Research focused on Down syndrome 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.
Fig; 1A shows neonatal karyotyping for female infants, That shows chromosomal study evaluating 23 pairs of chromosomes. It's a standard test to confirm aneuploidy such as down syndrome.
Fig;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 the 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 shows by Christine Patch,Anna Middleton,(2018), about Genetic counselling in the era of genomic medicine, 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 there are many women's age within 20 to 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 they don't need it or they don't prefer to go through counseling process.The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.’’
Conclusion
In conclusion, the role of genetics in modern medicine is transformative, offering new pathways for diagnosis, prevention, and treatment. While challenges remain, general connection towards modern medicine in manny 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 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, it gives 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 for pregnancy. During pregnancy, women should do the proper genetic testing to confirm diagnosis on an early basis. Those who already have a family history of genetic diseases should go and visit genomic centers. In all of the gulf countries they have this type of setup to prevent future complications.
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