It’s hard to estimate the total size and value of the diagnostics market, however by looking at some of the forecasts available, the scale of the industry is evident. Companion Diagnostics (CDx) is expected to be worth more than $6.5 billion by 2022, with Point of Care (POC) estimated to reach a value of $38 billion in the same period. The biggest market sector, In Vitro Diagnostics (IVD) is predicted by some to reach a value of $99 billion by 2025.
Even conservatively speaking, we’re looking at a global market value of well in excess of $100 billion within the next 4 – 6 years – a staggering figure; the cause of this skyrocketing value is a changing global population. That population is getting larger, people are living longer and need more care as diseases and illnesses are becoming more widespread than ever. For example, it was estimated that 23.5M Americans were living with autoimmune diseases in 2017 and millions more are living with conditions like cancer.
As the number of patients rises, the demand for all forms of diagnostic tests and technology increases as faster, earlier and better diagnoses give physicians the capability to devise a more effective treatment plan.
That’s the external factors creating the demand for innovation in diagnostics, but what about the supply? What should we expect to see from within the diagnostics market over the next 3 – 5 years, making those fantastic figures a reality?
To try and answer that question, I spoke with Professor Paul Harkin, President and CEO of Almac Diagnostic Services. Almac Diagnostic Services is one of seven subsidiaries of the wider Almac Group, which, in addition to diagnostics, provide a range of contract pharmaceutical development and manufacturing services from 17 facilities globally.
Professor Paul Harkin - President & CEO of Almac Diagnostic Service
Full Disclosure: Charlton Morris supports the Group with their expansion.
Professor Harkin has a distinguished background in diagnostics. Having previously worked as a Research Fellow at the MGH Cancer Centre, Harvard Medical School and Professor of Molecular Oncology at Queen’s University Belfast, he’s made the transition from academia to industry after the diagnostics business he started was acquired by Almac in 2004. Today, he maintains a position within the University, as it aligns with Almac Diagnostic Services’ overall strategy to maintain a research base within Queens focused on novel biomarker discovery programs.
Cancer is a huge global problem. It was estimated that the disease was responsible for the deaths of more than 9.6 million people in 2018, so research into the fight against cancer has been extensive.
One of the key elements to effectively fighting cancer is early detection, which means that accurate diagnostic tests can be a physician’s best weapon to fight the disease before it advances. It’s no surprise then that oncology has traditionally been the key area for diagnostic research in recent years, providing multiple significant breakthroughs.
When speaking with Professor Harkin, he believed that the recent advances in mapping the human genome are also opening the door for breakthroughs in other areas too.
“Just like we’re beginning to understand the mutations that underpin cancer after decades of research, we are now starting to get a realunderstanding of some of the mutations that underpin CNS diseases like Parkinson’s and Alzheimer’s. The precision medicine approach in this field, whilst lagging behind oncology, is starting to increase in prominence”.
With recent advancements in genomic mapping and testing, scientists could potentially unlock clues about how the immeasurable complexities of the brain work. He also highlighted immunology as another area of interest with exciting research being conducted into the causes of conditions like Crohn’s Disease and Ulcerative Colitis, both of which are also far easier to treat if detected early.
The microbiome was another area we touched on and how researchers are only just realising the potential that deciphering the intricacies of an individual’s microbiome could have. Professor Harkin said once you can characterise the microbiome, “it doesn’t matter what the disease is” – the information stored there could help with the diagnosis of a range of conditions, both physical and mental.
Diagnostic research over the next 5 years is likely to keep making headlines in oncology but also in other areas. As we understand the human genome in more and more detail, it’s likely that we’ll start to unpick the characteristics of a whole host of conditions that were previously impossible to catch early.
Shift in Mindset
Professor Harkin spoke of a “shift in mind-set” by smaller biotechnology companies over the last 5 years, which looks set to have a significant impact on the next 5. That shift has seen those companies have a desire to identify specifically who their pharma assets would work on as well as what condition the asset treats.
“Five or six years ago, a lot of biotechs had one or two assets, and their business model was all about being acquired. So, they'll take that asset, that drug candidate, to phase one or phase two nd then hope that they're going to be acquired by a larger pharma company”.
Today, market conditions mean that approach is no longer viable, as “it’s not just enough to have an interesting drug candidate, they must also have a good idea about what target population it’s going to work on.”
This means a huge rise in the appetite for companion diagnostics (CDx) and companies like Almac Diagnostic Services, who work alongside the biotech and pharma companies to help identify the who as well as the what. It’s likely that we’re going to see more and more partnerships like this one, in which Almac has joined forces with treatment resistance specialists TP Therapeutics.
Another shift in the market Professor Harkin mentioned, is the increasing uptake of RNA-Seq based biomarkers, which are a largely untapped but hugely beneficial resource. Within the past 8-10 years, there has been a significant rise in the number of NGS publications featuring RNA-Sequencing (RNASeq). This change has been driven by the realisation that researchers cannot solely rely on DNA aberrations to understand tumour biology but also need other omics data such as RNA profiling to capture a more comprehensive view. Further details can be found here in this recent Blog by Almac Diagnostic Services.
This RNA approach has driven the development for one of Almac’s latest products, clara-T, “a unique software-driven solution, classifying biologically relevant gene expression signatures into a comprehensive, easy-to-interpret report”.claraT classifies multiple publicly available gene expression signatures and single gene targets linked to multiple key biologies, alongside Almac’s own proprietary assays, according to the 10 Hallmarks of Cancer.
Trends & Mid-Size Panels
Professor Harkin sees this shift as a major developing market trend we’ll see continue over the next decade, borne out of a “desire to consolidate as much clinically actionable genetic information onto a single delivery platform.”
To give an indication of the coverage requirements for these mid-size panels in oncology, Professor Harkin pointed to the “latest estimates that suggest there are about 600-700 cancer genes that have strong evidence linking them to individual cancers.” However he pointed out that not all the mutations identified by these panels are yet clinically actionable. Another driver for the development of mid-size panels in the range of 500-600 genes is the belief that panels of this size range can provide a reliable estimate of tumour mutation burden (TMB) which is one of the key biomarkers being assessed as a potential predictor of benefit for immune oncology therapeutics.
" It’s more likely that we’ll see the market dominated by mid-sized panels for the next 5 years, before companies are able to make the jump to full genome and exome sequencing further down the line”.
He referenced Illumina’s latest TruSight Oncology 500 gene panel , launched in January of this year, as being indicative of that trend.
The Long Run?
What about after the next 5 years? The next 10 or 20? What are the aims of the diagnostics sector in the long run?
For Paul, it’s “down to the issue of trying to get past the need for multiple testing, where patient samples are difficult to come by, or where the process by which the biopsy, or the tissue sample is obtained, is invasive.”
Ultimately, Professor Harkin believes that testing will be “standardised across a number of large scale panels that can measure the coding/non-coding region of the genome and simultaneously give a full transcriptional profile of the tumour.”
In that future environment the genomic profile for a patient may be generated only once but can be interrogated repeatedly using regulatory approved algorithms that provide both prognostic information on likely outcomes and predictive information on likely benefit from a large number of different therapies.
He added “In that scenario diagnostic companies will function more like software development companies rather than traditional clinical testing laboratories”.
Whatever form it does eventually take, the next 5-10 years will see diagnostics have a bigger impact on global healthcare than ever before.