Genetic Testing: A new era in personalised healthcare
Your Weekly Shortcut to Deeptech Investing—Exclusive Trends & Startup Reports for VCs & Angels in Just 5 Minutes
By Suraj Nair, Deeptech Contributor - Deep Science and Technology Investments, Ankur Capital.
What is going on?
As more genetic information has become available, personalized medicine has come to the fore as treatment for genetic diseases. These could be either drugs or gene therapies. These therapies are targeted towards very specific biomarkers identified by extensive genetic testing. As of 2022, there were 13 cell or gene therapies with US FDA approval, 5 of which were approved in 2022 itself. 12 new drug molecules identified as personalized medicine were approved in 2022, which represented a third of the total number of drugs approved by the US FDA.
What does it mean?
The cost of sequencing the entire human DNA has dropped from $10,000 dollars in 2011 to less than $1000 today. The drop in cost can be attributed to new technological breakthroughs such as ‘Next Generation Sequencing’, which can sequence millions of DNA strands in parallel, thus increasing throughputs and reducing costs. Secondly, availability of these NGS machines such as those provided by Illumina and Oxford Nanopore has increased across the world due to rising demand for sequencing services, leading to economies of scale kicking in, further reducing the cost of sequencing.
Lower costs and higher throughput means faster data generation and in large quantities. This genetic data is being used to understand specific genetic markers responsible for various diseases. For example, while BRCA1 & 2 are genes identified for hereditary breast and ovarian cancer in more than 70% of the cases, many new genes have also been identified with the availability of genomic data for breast cancer: ATM, CHEK2, PALB2, PTEN, TP53. Scientists have now been able to study the entire genome to identify more such biomarkers for many rare diseases as well.
As of November 2022, a total of 197,779 genetic tests have been uploaded in the genetic testing registry including updated versions of previously existing tests. This data has been used to develop personalized therapy solutions.
Why does it matter?
💸For markets:
The genetic testing industry has grown significantly over the past few decades and was worth more than $8 billion in 2022. From the early 1950s where changes in chromosome count was found to be related to certain genetic diseases such as down’s syndrome or turner’s syndrome, the industry has matured to a great extent.
A number of first generation companies including the likes of Medgenome, Foundation Medicine, Personalis carry out genetic testing in their own CLIA accredited labs. These companies have built an extensive database of genetic biomarkers, cancer genomic variants and similar databases for rare diseases and offer disease specific gene panels for diagnostic purposes. These companies are creating a differentiation in the market by the sheer volume of patient samples being tested, the extensive data being generated and the personalized results provided to patients. Medgenome has raised a total of more than $185 million, while Foundation Medicine was acquired by Roche for a total of $3.4 billion.
Some companies are operating in the D2C space, focused on genetic testing to identify heredity, paternal identification, pharmacogenomics and other predictive analysis. Ancestry.com, 23&me, Mapmygenome are examples of companies in this space. 23&me collects patients’ genetic and health data for research purposes and has been able to ink a deal with Genentech for $60 million for the use of this data for developing new medicines. The growth of the D2C sector has been slow due to the high cost of the tests and the lack of knowledge on the need for genetic testing.
🧑🏿🤝🧑🏻For society:
There are ten different types of genetic tests available in the market today based on their use cases: diagnostics, monitoring, pre-symptomatic testing, screening, drug response (pharmacogenomics), prediction, prognosis, therapeutic management, recurrence and risk assessment. While most tests before 2015 were focused on pre-symptomatic testing, risk assessment testing, or screening, diagnostic tests have been on the rise post 2015, driven by availability of more data around genetic biomarkers for diagnosing cancers, epilepsy or some rare diseases. These tests are providing valuable information for the development of personalized therapy for cancers as well as a number of rare diseases.
🔮What’s next?
Demand for genetic testing has picked up in recent years, especially during the COVID-19 pandemic. There are more than 10,000 identified genetic diseases, of which only around 650 diseases have genetic biomarkers identified. There are an estimated 400 million people with rare diseases, around 80% of which have a genetic origin. This presents a significant opportunity for startups in this space to discover new biomarkers and develop targeted diagnostics solutions. New age companies focused on multiplexed diagnostics such as GRAIL and Freenome are developing tests for detecting multiple biomarkers simultaneously, thereby reducing the turnaround time for diagnosis. These developments are expected to accelerate new targeted drug development over the next decade.
Note: Read more about Ankur Capital and our work in deep science technologies at Ankur Capital TechSprout.
✨ That’s all for today. Thanks for reading !
💖Like, follow and subscribe to our Community ! Stay tuned for our next Deeptech Analysis coming up with our Deeptech Insights Newsletter.
Much love Deeptechers!👋