There have been significant investments at an ever-increasing rate – both in academia and industry – to develop new therapies in therapeutic areas and scientific approaches. In 2019, the US pharmaceutical industry invested $83 billion in research and development, about 10 times the amount invested in the entire 1980s (adjusted for inflation) (1).
Yet the challenges of bringing potential therapies through preclinical and clinical studies and through the regulatory pathway are many. With 90% of drug candidates failing clinical trials (2), investing in biomedical science – however promising – carries substantial risks. However, some overlooked technologies can help reduce market access risks, especially for clinical-stage biotech companies. Genetic analysis tools are an example; in my opinion, genetic testing can make certain clinical studies more efficient and, ideally, accelerate drug candidates through the clinical development pathway.
According to a 2020 publication exploring the cost-effectiveness of clinical trials involving new therapies, the two most important factors influencing the cost of the trial are i) the number of participants needed to demonstrate a treatment effect and ii) the number of visits providers taken by these participants throughout the trial (3).
The first challenge is one that drugmakers can potentially address with genetic testing by better screening participants to identify those most likely to respond. Genetic testing technologies can identify disease and drug response biomarkers and pathogenic genes that may either put a person at risk or suggest a positive outcome, helping to screen participants early and optimize cohorts to maximize the efficiency of the tests. Genetic information can also reveal risk factors that can be used to ensure participant safety and enable quantitative analyzes to assess efficacy and dosages. With more rigorous cohort screening, clinical researchers could accelerate the pace of clinical trials, propelling drug candidates through the pipeline and minimizing expense.
Until now, clinical trials in oncology have dominated the playing field for studies using genetic analysis. It is easy to understand this prevalence; clinical attrition rates are particularly high in cancer trials. With risk stratification and pharmacogenomics offering enormous benefits for clinicians and patients, drug developers are using genetic analysis to explore all therapeutic modalities to prevent and treat cancer.
In the field of infectious diseases, the demand for vaccines and treatments against COVID-19 has led to an increase in clinical studies of new vaccines and therapeutics. Genetic analysis has been essential in these trials to locate points of infection, quantify viral load, assess response to vaccine or treatment, and investigate reasons for significant differences in individual responses. Genetic association studies help determine drug priorities by identifying variants associated with COVID-19 susceptibility and severity, increasing the chances of demonstrating a response to treatment.
Genetic analysis has also been used in trials for sickle cell disease and malaria and may also help increase the chances of success in bringing new treatments for these diseases to market.
There is significant evidence that the use of genetic analysis has shortened enrollment periods for clinical trials. In 2021, trials using genetic technologies recruited participants 1.84 months faster than those who did not, and projections estimate that trials launched in 2025 with genetic analysis could recruit 3.53 months faster (4).
Companies of all sizes around the world are using genetic analysis tools to accelerate their clinical trials. Some companies, such as Novartis, Johnson & Johnson, Celgene and Amgen, have started more than 20 such trials each dating back to 2014 (4). From 2014 to 2021, 1,700 clinical trials relied on genetic analysis (4). During this period, the number of clinical trials using genetic tools increased by 56% year-on-year, with 172 trials initiated in 2014 and 269 by the end of 2021. This trend suggests that a an increasing number of clinical trials will use genetic analysis in the future.
Genetic analysis offers a myriad of opportunities to increase the productivity and efficiency of clinical development. As competition in the biotech and pharmaceutical industries continues to soar, companies are expected to increasingly turn to genetic analysis tools to speed up trials and improve time to market.
Director of Strategy and Market Intelligence, Genetic Sciences Group at Thermo Fisher Scientific