How genetics can improve diagnostics

BiogeniQ, Health

15 June 2017

Any answer to the question of how genetics will make us healthier must inevitably centre on, first, prevention and then diagnosis. This question (and the resulting answer) is proof that genetics is not simply a new fashion, but rather a revolution.


In fact, it is such a revolution that Dr. William Neil Hait, Global Head, Research & Development at Janssen (a Johnson & Johnson pharmaceutical affiliate) said: “In the future there will not be patients as we think of people with disease today. Rather, we will have prevented, blocked/intercepted a process that if left unchecked would have led to illness. […] A hundred years from now, someone's going to look back on us and say, ‘Can you believe they waited until you got a disease and then did something?’” 


This is called Disease Interception. It is so clearly the way of the future that Janssen has made this field its number-one priority in researching and developing new treatments.

As we have heard so often of late, we are moving towards a not-so-distant future where the term “patient” will no longer exist. The new standard in healthcare will be to halt the progress of the disease in healthy individuals.

For example, a 2015 article by Drs. Ziegler and Sosenko in Diabetes Care discussed insights from prospective, longitudinal studies of individuals at risk for developing type 1 diabetes. The authors were able to show that the disease is a continuum that progresses sequentially at variable but predictable rates, even prior to the onset of symptoms. Adoption of this staging classification will aid the development of personalized therapies in the early stages of the disease and allow us to imagine a future where we may be able to prevent the onset of symptomatic disease.


In a previous article, we discussed how HIV diagnosis is improved by screening for the virus’ DNA rather than its proteins. The improved sensitivity of DNA-based diagnostics means diagnoses are not only more accurate, but also much faster.

Read the first article in the series

Genome sequencing has the potential not just to improve the diagnosis of conditions caused by DNA mutation, but also to reveal what treatments could be ineffective. The first and most important step is to understand what biological effect each genetic mutation has on a person’s health.

Healthy people are relieved to know that genetic testing can show them how to improve their health. It is now common practice to use genetics to ascertain which individuals have a high risk of developing breast, ovarian, or bowel cancer. In these instances, high levels of surveillance coupled with medical interventions such as surgery can detect cancer early and even prevent it altogether. Predictive testing also offers some interesting opportunities.

In the future, anyone can choose to have genomic sequencing so they can learn more about their risk and take appropriate measures to reduce it.

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Étienne Crevier