Ep. 9: How Useful Is Genetic Testing When We Don’t Have Cures for Diseases?

In 2004, after 14 years of research, The Human Genome Project was concluded. 99,9% of the human genome was sequenced and we learned that people have between 20,000 and 25,000 genes.

Tjaša Zajc
Faces Of Digital Health
2 min readApr 19, 2017

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Genes are seen as a map to people’s health and diseases; the ultimate source of our health problems and wellbeing. Expectations of what could be explained with genetic testing are high. Nonetheless, genes are still a universe of the unknown.

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Even if a person has a predisposition for something, it is very often the environment which will or will not trigger it. Many diseases are polymorphous — more genes are included in their expression and severity.

We are far from knowing all the correlations. So where are we?

“10 years ago we were only thinking about correlations between genes and diseases. It has become clear by today, that a lot more than diseases can be predicted through genetic testing,” says Sooraj Ratnakumar, from Swagene.

“Hundreds of genes are included in diseases such as diabetes or cardiology disorders. Analytics is not developed enough yet to make specific conclusions. But even in these diseases there are genes that lead to monogenetic expression. This means that when a mutation or problem is detected on one of these specific genes, we can says with a higher certainty what the risk for a disease expression is,” he explains.

We are still in very early stages of what we know about our genes. A decade ago we only used genetics for diagnosis. Today tests can already help doctors with determining the prognosis of a patient, predict disease progression and consequently make informed treatment decisions. Pharma companies are leveraging from genetic testing to search for better therapy targets. Thanks to genetic testing, precision medicine is on the rise.

Sooraj Ratnakumar is a scientist with a PhD in Biotechnology from the University of Cambridge. He is also the CEO of Swagene — an Indian company for medical genetics. Wondering what he thinks? Listen to the 9th episode of Medicine Today on Digital Health.

You can find, listen and subscribe to the podcast in iTunes or Podbean, or use the RSS feed.Suggestions, comments will be highly appreciated either here or on Twitter.

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