Vishvajyth Ponnambalam
The origins of genetic testing can be seen as early as the 1950’s, where chromosomes were individually counted per cell, being used to diagnose certain chromosomal diseases such as Downs Syndrome. It has now expanded to be able to detect changes in genes, proteins, and even single nucleotide letters (the bases which make up our DNA), from which cellular changes can be identified. Thanks to advancements in genomics and molecular genetics, we can now test for over 2,000 genetic conditions and some cancers. Vishva explores the benefits and potential downfalls of genetic testing in humans…
Genetic testing involves collecting a sample of blood or spit, from which DNA is extracted and analysed for any mutations. If a gene has been mutated, it may decrease or increase the likelihood of a genetic disorder. This means that taking a simple swab could possibly lead to a life-altering diagnosis.
…Wishing to seek reassurance about one’s health when a close family has suffered through something can could potentially be passed down
Because of the complexity of genetic testing and the nature of individuality, commercial genetic testing has traditionally been an expensive service few could afford. Nowadays, as science continues to advance and new technologies are developed, genetic testing has become more accessible. Though it is worth noting that the singer Rita Ora was recently criticised for promoting a $2500 full body MRI scan by Prenuvo, a company which has specialised in this area since 2018 , promising to detect over 500 genetic diseases and cancers. Ora, who is a brand ambassador for Prenuvo, said she was inspired by watching her mother’s fight against breast cancer to get herself checked. Irrespective of the controversy surrounding the price of the MRI scan, Ora is not alone in wishing to seek reassurance about one’s health when a close family has suffered through something can could potentially be passed down.
It is important that all arguments are equally considered, and an informed decision is made before going through this process
There are varying opinions about the actual benefits of genetic testing, and the anxiety and stress that could come in the aftermath of a diagnosis of a condition. It is important to note that genetic testing is not perfect and a positive diagnosis for a certain genetic condition or cancer does not mean that symptoms will appear, and cannot accurately predict the severity and progression of the disease if it does, which means someone can undergo unnecessary worry and paranoia. On the flip side, people who have had siblings with cancer have been able to have tumours detected in themselves and safely removed thanks to genetic testing, which in the long term saves them from a lot of emotional trauma and physical pain.
There are various reasons for and against genetic testing; it is important that all arguments are equally considered, and an informed decision is made before going through this process.
What may encourage one person to get tested may well dissuade another
Some reasons that support genetic testing include:
- Finding out whether you have inherited a hereditary genetic condition before displaying symptoms
- Detect a genetic condition if you or your child has symptoms
- To discover the possibility a current/future pregnancy will have a genetic condition
- To support your cancer prevention or treatment plan
On the other hand, concerns regarding genetic testing include:
- Potential for genetic discrimination in employment or insurance
- Genetic testing only provides limited information regarding an inherited condition
- There is a lack of treatment strategies for many genetic disorders, so early screening may not lead to successful treatment of the condition.
- Genetic testing can reveal information about family members, not just the individual who gets tested, which could lead to tensions
Genetic testing is a personal decision, and so should be left up to the individual to ultimately decide. That being said, there are resources online (from trustworthy sources) from specialised clinics, as well as your GP that can provide information and advice. In the UK, there are specific counselling sessions, that can be attended voluntarily, where the councillor will go through the implications, positive and negative, of getting genetic testing done. These sessions can provide support and expert advice on a personal level to people who may have a reason to look into getting genetic testing done. What may encourage one person to get tested may well dissuade another.
Vishvajyth Ponnambalam
Featured image courtesy of National Cancer Institute via Unsplash. Image license found here. No changes were made to this image.
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