Genetic Counselling in Clinical Genetics

‘Get your DNA test done – such a simple saliva-based test!’

‘Give us a prick of your blood and we will tell you all about the 30,000 genes in your body!’

‘Spit in the tube and we can tell you about your ancestry, or whether your preference lies in sweets or in coffee!’

Do these sentences look familiar? Just try Googling genetic testing and “Poof”! You shall find yourself lost in the different kinds of genetic tests available nowadays. Truly the marvels of genetic testing and the wonders it unfolds are limitless, phenomenal and somewhat enchanting, especially when the results seem so easy to understand and come in all sorts of beautiful colours on our login screens. However, these genetic tests come with their own perks which can prove to be quite challenging to deal with. Sure, it can be fun to know why I like sweets and you prefer coffee instead, but imagine being told about being a ‘carrier’ of a certain disease hidden in the family or having chances of developing a serious condition later on in life, such as a cancer in just a few sentences on your screen or a couple of colourful pages? There is no extent to the shock that one can receive in such a case, isn’t it?

This is where a clear demarcation exists between the kinds of genetic tests that are available off-the-shelves to know about ‘fun’ traits (Direct-to-Consumer Genetic Testing or Consumer Genetics) and the kind that should be offered with health supervision and prescribed by medical experts (Clinical Genetic Testing). The former test mostly ‘screens’ for usually lifestyle-based traits, but the latter is serious business. There are rules and guidelines overshadowing clinical genetic testing. Moreover, these are prescribed and certainly not available off-the-shelf.

Clinical Genetic Testing:

What is ‘Genetics’?

Genetics is the study of the genes present in the body. Genes are the functional parts of the hereditary material known as the DNA, which leads to the formation of important proteins which leads to the ‘characters’ of an individual – such as eye color, hair color, structure and function of several parts of the body. Any problem occurring within the gene can lead to a sudden change or ‘mutation’ in the manufactured protein, which could result in a faulty ‘trait’ within the individual (such as an extra thumb) or a much serious ‘genetic condition’ (such as thalassemia or even cancer).

Who can opt for Clinical Genetic Testing?

Those who wish to know about their risk of developing a disease either running in the family, to know about its prognosis, or the risks associated with passing on the condition to their children. Usually, it requires clinical consent from the referring doctor or a Medical Geneticist, consent from the person being tested (or a guardian, if the person tested is a minor) and a witness (usually an additional family member or a Genetic Counsellor).