Genomics are giving people greater control over their health

January 01, 2019

In June 2000 the human genome — the entire genetic code contained in our cells — was published for the first time. There are more than three billion letters in the human genome, and identifying them all took 1,000 scientists more than 15 years. Since then, the genetic testing industry has developed rapidly.

It’s becoming more common for patients to choose genetic tests that assess risk for diseases such as breast cancer, Alzheimer’s, Parkinson’s, diabetes and other conditions, especially if there’s a family history. And after years of being on the fringes of healthcare as far as many consumers were concerned, genetic testing and genomic sequencing is finally coming of age.

Applications of genomics — reading and analysing the DNA that stores genetic information in all living cells — are moving from laboratory research into clinical practice for diagnosis and therapy. It’s not just an increasingly accurate predictive tool, but one that is frequently cited by healthcare professionals as essential in helping to make more informed and faster treatment decisions. In addition, such a data-driven personalised approach, utilising both artificial intelligence and genetic sequencing, has enabled consumers to take greater control of their health.

Broadly, three types of genetic testing exist:
  • Single gene analysis, which is mostly used for rare and inherited disorders.
  • Whole genomic sequencing, an analysis of the approximately 25,000 genes of the human cell, so as to better understand the mechanisms behind many common diseases and create more accurate and earlier diagnoses, and
  • Direct to consumer genetic tests, simpler products that are used at home and then sent to laboratories, with results that are becoming increasingly more accurate.

There are now more than 75,000 genetic tests on the market – from wellness to specific disease diagnosis – with new ones being introduced every day.

Unlike a simple blood test, a genetic test analyses the composition and functioning of a single gene, and identifies any susceptibility to a specific disease at some point in an individual’s life.

Meanwhile, genomics analyses all of the genes in a human body and how they interact with each other to assess the combined influence that they may have on how an individual’s health may develop. This allows for much more precise diagnosis, targeted treatments, disease prediction and prevention.

Not only do people feel empowered, but healthcare professionals are also provided with crucial data that enables them to provide more targeted and personalised strategies for patients.

Genetic sequencing initially started as a means to detect genetic aberrations that would result in a hereditary condition. Then, it developed further to detect damage in specific genes that could cause cancer. That insight paved the way for the development of so-called “targeted drugs” that can enlist the patient’s own immune system to recognize and attack cancer cells. The challenge is to identify with precision which patients would benefit from these high cost drugs and which would not.

And as genome sequencing becomes more widely adopted – and the data from around the world more complete, detailed and accurate – the technique will be as useful for ordinary patients as it will be for those who require genetic testing for more specific conditions.

At Allianz Care, we constantly endeavour to align ourselves with cutting edge medical trends so that we can reflect the changing nature of healthcare with our products and benefits packages. For instance, coverage of genetic analysis before cancer treatment is routine if a direct family history of a hereditary condition or pre-disposition is suspected. It means that, for instance, where the specific benefit applies, some of our customers have undergone preventative procedures – such as mastectomies – after the discovery and analysis of rogue genes.

A number of large-population based projects are already looking at the potential of genomic data for new diagnostic possibilities, treatments and healthcare strategies. In the UK a national programme has been launched to sequence up to 100,000 genomes from patients and to combine this with clinical data from the UK’s National Health Service. Similar schemes are being launched in countries such as China, the US and India.

Together with falling costs, big data technologies, advancing computing power and analytical capabilities are providing the catalysts for a genomics data revolution.

It is a field that is beginning to deliver on its vast medical promise, ushering in a new era of precision healthcare, in which treatments, prevention strategies and health advice will reach the right person at the right time. Shifting the emphasis onto prevention rather than late treatment, from crisis response to health management.

This article first appeared in Health Insurance & Protection.