The science behind innovations in personalised cancer care: spotlight on comprehensive genomic profiling

DNA_strand_740x416

The world of healthcare is evolving, with expertise in different disciplines converging to accelerate progress in personalised healthcare. Some of these trends, for example advances in our understanding of the biology of disease, and the growing availability of real world data and electronic health records, are often talked about.

On this occasion, we would like to shine a spotlight on comprehensive genomic profiling (CGP), a key driver of transformation in personalised cancer care. Where we would have once called this field science fiction, its impact is a reality today.

Our understanding of cancer genomics is dramatically changing cancer diagnostics, leading the way to personalised cancer care

Cancer is no longer seen as just one disease, but a collection of hundreds of diseases, each with unique characteristics and its own genetic make-up (genomic profile). For example, lung cancer was once thought of as a single disease, but we now know it can be categorised into at least 12 distinct subtypes based on the molecular alterations (mutations) that drive its growth.

How did we go from categorising cancer types based exclusively on anatomy and histology (the study of human tissues) to understanding the genetic drivers of cancer with such detail and creating a whole new method of cancer classification in a matter of few years? The emergence of molecular information, made possible by advances in the field of DNA sequencing and the ability to collect and process larger amounts of data quickly, has already played a crucial role in the evolution of cancer research in recent years.

four-genome-changes
The four distinct classes of genomic alterations that can lead to cancer

Advances in the science of molecular biology in the early 2000s allowed researchers to perform multiple tests on limited amounts of tissue. We are now able to apply these learnings to small amounts of cancer tissue to find out which mutations the patient’s cancer is expressing: a time and cost-effective comprehensive genomic profile of cancer unique to each patient.

See how comprehensive genomic profiling (CGP) differs from other tests which are currently available:

  • <strong>Single-marker testing</strong> is currently the most prevalent approach to diagnostics. It identifies one or two classes of alterations within a single pre-specified gene commonly associated with cancer. These routine molecular tests are often cancer type-specific.
    Single-marker testing is currently the most prevalent approach to diagnostics. It identifies one or two classes of alterations within a single pre-specified gene commonly associated with cancer. These routine molecular tests are often cancer type-specific.
  • <strong>“Hot spot” tests</strong> utilise NGS to identify a limited range of pre-specified mutations across several genes, but do not detect all classes of genomic alterations.
    “Hot spot” tests utilise NGS to identify a limited range of pre-specified mutations across several genes, but do not detect all classes of genomic alterations.
  • <strong>Comprehensive genomic profiling</strong> utilises NGS to identify all four classes of alterations across hundreds of genes known to drive cancer. Therefore, these tests are often described as ‘pan-cancer’, or applicable for use across any type of cancer.
    Comprehensive genomic profiling utilises NGS to identify all four classes of alterations across hundreds of genes known to drive cancer. Therefore, these tests are often described as ‘pan-cancer’, or applicable for use across any type of cancer.

The promise of molecular information to cancer patients

As our molecular knowledge of cancer continually evolves and we find new ways to collect and process cancer-related data, we can see the beginning of a new era in cancer care. Molecular information has the potential to offer cancer patients the best chance of truly personalised cancer care as it continues to build on the strong foundations of comprehensive genomic profiling and big data processing.

Using comprehensive genomic profiling, it is possible to map an individual’s unique genomic profile across all four types of alteration, spanning several hundred different types of mutations. These deep insights provide invaluable information to physicians that can help them determine the best possible treatment for each patient, and even map their treatment journey to identify future courses of action should the disease progress. Likewise, the integration of these new data sources on a large scale can help biotech companies make more informed decisions in their R&D investments.

Harnessing the promise of molecular information, developing new strategies with partners to evolve the practice of personalised cancer care, and facilitating comprehensive genomic profiling are significantly advancing cancer care for patients, and we are proud to be leading the way in this area.

DNA_code_370x208

A brief history of DNA sequencing in cancer research

With the emergence of DNA sequencing techniques in the late 1970s, led by Prof Frederick Sanger, scientists gained the ability to sequence a full genome in a reliable, reproducible manner. ‘Sanger sequencing’ became the most widely used sequencing method for the next two decades and is still in use today for small-scale projects.

When the Human Genome Project was initiated in the 1990s, it became apparent that Sanger sequencing would have been too slow and expensive to sequence the whole human genome. In the early 2000s, scientists were able to apply new technology to the project and expedite the sequencing process, so the Human Genome Project concluded its mission to sequence the human genome in 2003.

Back then, the project took over two years and cost three billion Swiss Francs. With further significant efforts to reduce costs and timeframe over the last decade, today an individual’s full genetic sequence of three billion DNA base pairs (or genome) can be analysed in a few hours for a fraction of the original cost, via a method known as ‘next generation sequencing’.

Next-generation sequencing is DNA sequencing on a massive scale, which enables multiple tests to be performed on limited amounts of tissue. In this process, millions of fragments of DNA from a single tissue sample are sequenced in parallel to enable genomic profiling within a rapid timeframe – typically in 2 to 3 weeks. This can be applied to both an individual’s genome to determine whether they are at higher risk than the general population to develop a certain type of cancer, or can be performed on a cancer biopsy to analyse the genetic drivers of that specific cancer.

Tags: Science, Innovation