Genomics and its Rapid Evolution

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Life is a mystery, but genomics can help us solve it. Genomics studies all organisms’ genes and how they affect health and well-being.

Genomics has many applications in health and medicine. It can help us find cures for diseases, develop new drugs and vaccines, and explore the diversity of life. But genomics is not only a science for everyone. It is also a science for everyone’s needs.
The Middle East needs genomics more than ever. The region has the highest rate of genetic disorders in the world. This is because of the high marriage rates between relatives and genetic diversity.

‘The Middle East has the highest rate of genetic disorders globally. They affect about 2.5% of live births: World Health Organization’

Some common genetic diseases are thalassemia, sickle cell anaemia, cystic fibrosis, haemophilia, and muscular dystrophy.

This blog will explore how genomics is changing health care in the Middle East. We will learn about some of the region’s best genomic research centres and projects. We will also discuss the benefits and risks of genomic screening and testing. Finally, we will see how genomics can offer new and better ways of fighting diseases.

Genomic Research in the Middle East

The Middle East has seen a lot of genomic research in recent years. Many governments, institutions, and scientists have worked hard to improve health outcomes in the region. Some of the region’s top genomic research centers and projects are:

1. King Faisal Specialist Hospital and Research Centre (KFSH & RC) in Saudi Arabia:

This is one of the biggest and best medical and research facilities in the Middle East. It has a special Department of Genetics that does cutting-edge genomics research. The KFSH & RC has also started a Saudi Genome Program. It aims to sequence 100,000 genomes from Saudi people. It will help to make an extensive database of genetic diseases and variants in the country.

2. National Genome Strategy in the UAE:

This is a national plan launched by the UAE government in 2020. It will sequence 1 million genomes from UAE people by 2025. The project aims to boost genomic research and innovation. It will also support personalised medicine and preventive health care. The plan will also make a genomic database for the UAE population.

3. Qatar Genome Project:

The Qatar Foundation started this national project in 2013. The project aims to sequence 60,000 genomes from Qatari people and residents. It will also find genetic variants linked to common diseases in Qatar. Diseases such as diabetes, obesity, heart disease, and cancer.

These genomic research centres and projects have faced significant challenges. Some of their achievements are:

  1. Finding new genes and variants linked to rare diseases, such as Alagille syndrome. Other rare diseases include Bardet-Biedl syndrome, congenital adrenal hyperplasia, and retinitis pigmentosa.

2. Making new tools for diagnosis and treatment, such as

  • A test for prenatal diagnosis of chromosomal problems
  • A gene panel for hereditary breast cancer.
  • A gene therapy for spinal muscular atrophy.
  • A stem cell therapy for corneal blindness.

3. Solving ethical, legal, and social issues related to genomic data and privacy, such as

  • Making guidelines for informed consent.
  • Making biobanks for storing genomic samples.
  • Creating data sharing and protection policies.
  • Talking with stakeholders and communities.
Genomic Research

Genomic Screening and Testing in the Middle East

Genomic screening and testing use genomic technologies to check DNA samples. Genomic screening is done on healthy people or groups to find genetic risk factors. It is also used to find carrier status for some diseases or traits. Genomic testing is done on sick people or families to confirm or rule out a diagnosis. It is also done for the prognosis of a specific disease or condition.

Genomic screening and testing have many pros and cons for different purposes. Some of these purposes are

Premarital Screening:

This is a must-do program in some countries in the Middle East. Countries like Saudi Arabia, Bahrain, Kuwait, Oman, Qatar, and UAE do it to stop marriages between relatives. Thus lowering the risk of genetic diseases among children. Premarital screening tests are done for common genetic disorders. These disorders include thalassemia, sickle cell anaemia, cystic fibrosis, and G6PD deficiency.

The pros of premarital screening are:

  • Increasing awareness and knowledge about genetic diseases.
  • Lowering the rate and burden of genetic diseases.
  • Helping couples to make informed choices about having children.

The cons of premarital screening are:

  • Not covering all genetic diseases or groups.
  • Low use and follow-up by couples.
  • Social stigma and discrimination against carriers or affected people.
  • Ethical dilemmas and conflicts between personal rights and social norms.

Prenatal and Newborn Screening:

This is a choice program offered by some countries in the Middle East. Such as Saudi Arabia, UAE, Qatar, Kuwait, Bahrain, and Oman. It is done to find congenital disabilities and enable early help. Prenatal screening tests for chromosomal problems, such as Down, Edwards, and Patau, are done. Safe methods, such as ultrasound or cell-free fetal DNA analysis, are employed. Newborn screening tests for metabolic disorders are also done. Using blood samples taken from the newborn‘s heel, such as phenylketonuria, congenital hypothyroidism, and galactosemia.

The pros of prenatal and newborn screening are:

  • Improving affected babies’ life quality and survival.
  • Lowering the sickness and death of genetic diseases.
  • Saving health care costs and resources.

However, there is

  • Low parental awareness and acceptance.
  • High false positive and negative rates.
  • Lack of follow-up and treatment options.
  • Ethical issues and challenges related to abortion, disability rights, parental choice, etc.

Cancer Screening and Targeted Therapy:

Cancer is one of the leading causes of death in the Middle East. Cancer screening uses genomic tests to find mutations that show a high risk or presence of cancer in people. For example, BRCA1 and BRCA2 genes are tested for hereditary breast and ovarian cancer syndrome. Cancer-targeted therapy uses genomic tests to choose the best treatments based on the tumour’s molecular profile. For example, the EGFR gene is tested for lung cancer patients. It shows their response to tyrosine kinase inhibitors.

The pros of cancer screening and targeted therapy are:

  • Improving the accuracy and effectiveness of diagnosis and treatment.
  • Enhancing the survival and life quality of cancer patients.
  • Lowering the toxicity and side effects of chemotherapy.

The cons of cancer screening and targeted therapy are

  • High cost and complexity of genomic technologies.
  • Low availability and accessibility of genomic services.
  • Variability and uncertainty of results.
  • Ethical implications and controversies related to genetic testing, informed consent, data privacy, etc.

Genomic Treatments and Medicine in the Middle East

Genomic treatments and medicine use genetic information to treat or prevent diseases. They have many new and promising ways in the Middle East, such as

1. Gene therapy:

This technique uses genes to fix or replace faulty genes that cause diseases. Various methods, such as viral vectors, non-viral vectors, gene editing, or gene regulation, can give Gene therapy. Gene therapy has been used to treat several genetic diseases in the Middle East, such as spinal muscular atrophy, haemophilia A, beta-thalassemia, and Leber’s congenital amaurosis. Gene therapy has also been used to treat some cancers in the Middle East, such as glioblastoma.

2. Pharmacogenomics:

This branch of genomics studies how genetic differences affect drug response. Pharmacogenomics can adjust drugs based on individual genetic profiles, such as dosage, effectiveness, and toxicity. Pharmacogenomics has been applied to several drugs in the Middle East, such as warfarin, clopidogrel, tamoxifen, and imatinib. Pharmacogenomics has also been used to make new drugs for specific diseases or groups, such as a new anti-malarial drug for Plasmodium vivax malaria, which is common in the Middle East.

3. Regenerative medicine:

This field uses stem cells or organoids to fix damaged tissues or organs. Stem cells can change into different types of cells, while organoids are mini-organs grown from stem cells in a lab. Regenerative medicine has been used to treat several diseases and injuries in the Middle East, such as corneal blindness, diabetes, liver failure, and spinal cord injury.

However, Genomic treatments and medicine have many opportunities and challenges in the Middle East, such as:

  • The cost-effectiveness and affordability of genomic interventions
  • The safety and efficacy of genomic therapies
  • The regulation and oversight of genomic products and services
Genomic Treatment

Conclusion

Genomics has a substantial potential impact on improving health outcomes. It can help find new genes and variants linked to diseases. Also, aid in making new tools for diagnosis and treatment and provides personalised and preventive health care.

However, there is a high cost and complexity of genomic technologies. Whereas there is low awareness and acceptance of genomic services.

Therefore, we suggest that more action or research on genomics in the Middle East should focus on:

  • Increasing the collaboration and coordination among governments and institutions to share resources and experiences on genomics.
  • Enhancing education and communication about genomics to raise awareness among policymakers, health professionals, students, media, the public, and religious leaders.
  • Making ethical, legal, and social rules for genomics that respect human rights, dignity, autonomy, and diversity; protecting personal data, privacy, and confidentiality.

We hope you have learned something new and exciting about this fascinating field of science and medicine. To read more such blogs, follow AIMS Healthcare on our website, Facebook, Twitter, and Instagram.

Frequently Asked Questions

Genomics is the study of all genes in an organism. It is essential for the Middle East because many people in the region have rare and inherited diseases. Due to high rates of marriage between relatives and genetic diversity.

Some common genetic diseases are

  • Thalassemia
  • Sickle cell anaemia
  • Cystic fibrosis
  • Haemophilia
  • Muscular dystrophy.

Some of the leading genomic research centres and projects are

  • King Faisal Specialist Hospital and Research Centre (KFSH & RC)
  • Saudi Genome Program in Saudi Arabia
  • National Genome Strategy in the UAE, and the Qatar Genome Project in Qatar.

Some benefits of genomic screening and testing are

  • Reducing the prevalence of certain diseases,
  • Enabling early intervention
  • Devising suitable treatment plans.

Some emerging and promising genomics applications are

  • Gene therapy
  • Pharmacogenomics
  • Regenerative medicine

These applications use genetic information to

  • Correct or replace defective genes
  • Tailor drugs based on individual genetic profiles
  • Repair damaged tissues or organs

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