Genetic testing: an exploration

Written by: Dr Anand Saggar
Published: | Updated: 05/06/2024
Edited by: Aoife Maguire

In the vast landscape of medical advancements, genetic testing emerges as a beacon of precision and foresight, offering individuals a glimpse into their own unique genetic makeup. Highly experienced consultant geneticist Dr Anand Saggar explores the fundamentals of genetic testing, its applications, and what it means for you, the patient.



What is genetic testing?


Genetic testing is a diagnostic tool that examines an individual's DNA to identify potential genetic variations or mutations. Your DNA, the building blocks of life, contains instructions for the development and functioning of your body. By scrutinising specific regions of your DNA, genetic testing can reveal insights into your predisposition to certain diseases, your ancestry, and even your response to certain medications.


The process simplified


When you opt for genetic testing, a sample of your DNA is collected, often through a saliva sample or a blood test. This sample is then analysed in a laboratory, where technicians examine your DNA for specific genetic markers. These markers provide information about your risk of developing certain conditions or diseases.


Understanding the results


Receiving the results of a genetic test can be both enlightening and daunting. It's important to remember that genetic predisposition does not equate to certainty. A positive result may indicate an increased risk of developing a particular condition, but it does not guarantee that you will develop it. Likewise, a negative result does not necessarily mean you're in the clear. It's crucial to discuss your results with a doctor who can provide context and guidance tailored to your individual circumstances.


Applications in healthcare


Genetic testing holds immense promise in the realm of preventive medicine. By identifying genetic predispositions early on, healthcare providers can implement personalised strategies to mitigate risks and promote overall health and well-being. For example, if a genetic test reveals an increased risk of heart disease, lifestyle modifications such as diet and exercise can be recommended to minimise that risk. It can also help with family planning and understanding reoccurrence risk for testing other at-risk relatives when a specific mutation is identified


Ethical considerations


As with any medical intervention, genetic testing raises ethical considerations. Privacy concerns, potential discrimination based on genetic information, and the psychological impact of knowing one's genetic predispositions are all factors that must be carefully considered. It's essential for patients to be fully informed and empowered to make decisions that align with their values and preferences.


Moving forward


In conclusion, genetic testing offers a window into the inner workings of our biology, providing valuable insights that can inform proactive healthcare decisions. However, there are some complexities and considerations involved. By fostering open dialogue between patients and healthcare professionals, we can navigate this frontier of medicine with wisdom and compassion, ensuring that genetic testing remains a tool for empowerment and enlightenment.


Remember, knowledge is power, and understanding your genetic blueprint is just one step towards a healthier, more informed future.



If you would like to book a consultation with Dr Saggar, do not hesitate to do so by visiting his Top Doctors profile today.

By Dr Anand Saggar
Clinical genetics

Dr Anand Saggar is a highly experienced consultant clinical geneticist, who forms part of the team at The International Gene Clinic, based in London. He focuses on the diagnosis and treatment of various disorders and syndromes, specialising in genetic disorders and testing, connective tissue disorders, chromosome abnormalities, familial cancer, infertility, and all forms of inherited disease

Dr Saggar undertook his medical studies at the University of London, completing his MBBS in 1982. He was later awarded a fellowship to The Royal College of Physicians. Having recently retired from his work as the senior consultant within the NHS multidisciplinary team responsible for providing services for a population of approximately 2.7 million across the region, Dr Saggar now dedicates his time to seeing patients in his extensive clinics in London and Ireland.

Dr Saggar continues to take part in clinics in both general adult and paediatric dysmorphology alongside specialist clinics for patients with connective tissue diseases, kidney disorders, tuberous sclerosis, cancer family histories and other speciality areas. He was responsible for leading the Marfan/Aortopathy syndrome (connective tissue diseases) clinics at St George’s and the Brompton/ Harefield Hospitals.

During an appointment, Dr Saggar undertakes a thorough assessment of the medical history, family history and symptoms. Utilising state-of-the-art genetic sequencing technologies, he can try and pinpoint the underlying genetic causes of rare conditions. This meticulous approach ensures that patients receive informed opinions and detailed gene tests results in a timely manner.

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