PerkinElmer experts present the top trends in 2023
Society has made slow but steady progress in returning to more normalcy as we learn how to live with COVID-19, but the work around viral surveillance and pandemic preparedness continues as does the tireless efforts to combat and diagnose perennial disease foes in new ways.
Confronting and containing the spread of monkeypox, other sexually transmitted infections, tickborne diseases, cancer, Alzheimer’s, and more, will continue to be top of mind for health care professionals and diagnostics and drug R&D teams. To help, advances in automation and technologies like whole genome sequencing (WGS), gene editing and proteogenomics hold exciting promise for improving the health and wellbeing of humans worldwide. At the same time, advancing technologies can also spur rising volumes, types, and complexity of scientific data, resulting in cloud-based/SaaS data management approaches (to help drive more collaboration, and timely and informed decision making) to become an increasingly important aspect for labs to take into consideration.
PerkinElmer’s experts from around the world have provided their insight on some of the trends and issues helping shape science and healthcare in 2023 and beyond.
Innovation aimed at uncovering the causes of chronic disease
By Yves Dubaquie, senior vice president of diagnostics for PerkinElmer
Long COVID has renewed the scientific community’s interest in diagnostics for chronic disease, and for good reason. An estimated one in five individuals with a confirmed SARS-CoV-2 infection develop post COVID conditions such as fatigue, “brain fog,” difficulty breathing or joint pain, which may last for weeks, months or even longer. Recent research shows that individuals with long COVID were more likely to have autoimmunity markers in their blood than those who had recovered quickly or never contracted the virus. This should tell us that further development of new and existing diagnostic tools to understand immune response at the cellular level will be worthwhile in 2023 and beyond, not only for long COVID, but for other conditions too. Current research around chronic fatigue syndrome (CFS), for example, could lead to improved diagnostics and treatment for more people affected by this lesser understood condition.
Metagenomics in clinical research and the expanding role of WGS in precision medicine
By Dr. Madhuri Hegde, SVP and chief scientific officer, PerkinElmer Genomics
Multiomics is the future of biological analysis. In the year ahead we can expect continued advances in related technologies. Whole genome sequencing (WGS) continues to prove its utility in the diagnosis of rare/complex and common diseases, with some estimates showing that this method improves diagnostic yield by 40 to 60%. The emerging field of metagenomics in clinical research settings also shows promise. Discoveries enabled by this next-generation multiomics approach leading to data convergence from different platforms for clinical care combined with microbial and viral genome analysis, will ultimately help genetic counselors and clinicians reach diagnoses faster and initiate actions to improve health outcomes for patients they serve.
Achieving operational excellence through automation
By Carola Schmidt, general manager of automated robotic solutions, PerkinElmer
Compounding the issues associated with today’s laboratory personnel shortage, labs continue to be challenged by ever-changing quality and regulatory requirements. Fortunately, technological advances have paved the way to combat these obstacles in the form of automation. We will see more automated solutions come to market enabling labs to free up personnel for more sophisticated work where their expertise is needed. These solutions will also be proven to improve the accuracy and throughput needed to enable physicians to make critical, time-sensitive clinical decisions 24/7. It will be important to seek out lab automation that is SMART: scalable, modular, agile, reliable and tailor-made to accommodate various needs.
Newborn screening programmes will become More accessible and robust
By Petra Furu, general manager of reproductive health
In 2023, we should expect newborn screening (NBS) programmes around the world to continue to become more accessible, comprehensive and accurate in diagnosing babies with rare diseases and inherited disorders. This will include the expansion of NBS panels to include disorders such as the progressive neuromuscular disease, spinal muscular atrophy (SMA). In regions of Denmark and Spain, SMA screening is already underway, while pilot studies elsewhere in those countries – as well as in Italy, France and the UK – could eventually spur other regions to follow suit. Furthermore, the Australian Government recently announced an AU$39 million investment to increase the number and consistency of conditions screened across the country, and in Sub-Saharan Africa, Ghana Health Services recognised Newborn Screening as a health priority. There is a strong will to increasing the number of newborns screened for sickle cell disease (SCD) from its current level of 4% to 50% by 2030. Big, bold commitments such as these will hopefully continue in the year ahead.
Furthermore, technological improvements will be a driving force behind future advances in NBS globally. Whole genome sequencing (WGS) studies underway around the world are reaffirming the utility of this approach to NBS, not only as a second-tier test, but to effectively and expediently identify more newborns likely to develop a rare disorder.
High-precision T Cell testing becomes a reality
By Phill Keefe, chief executive officer for PerkinElmer’s Oxford Immunotec
Research aimed at understanding immune responses to SARS-CoV-2 have solidified the critical role T cells play in how the human body responds to infection. As a result, vaccine developers are eager to incorporate T cell testing into their clinical trials not only for future COVID-19 vaccines, but those to help prevent and defend against other infectious diseases too. In 2023, high-precision routine T cell testing will no longer be an aspiration, but a reality.
In the clinical space, T cell testing has been a pillar in diagnosing latent tuberculosis (TB) infection using two methodologies: enzyme-linked immunosorbent spot (ELISPOT) and enzyme-linked immunosorbent assay (ELISA). The World Health Organization’s recently released Guidelines and Operational Handbook on tests for TB infection reaffirmed the benefits ELISPOT-based IGRAs over ELISAs, as the ELISPOT technique measures antigen-specific responses at the single cell level to reduce variability. These capabilities – as well as broader availability of IVD test kits based on this approach – will be essential in both infectious disease diagnostics as well as vaccine development moving forward.
Tick-borne diseases on the rise
By Maite Sabalza, PhD, scientific affairs manager for PerkinElmer’s Euroimmun US business
Tick-borne diseases (TBDs) have become a global public health challenge. In recent years, both tick-borne pathogens and TBD cases have increased globally. TBDs are the most common vector-borne diseases in the USA, with Lyme disease being the most reported TBD. Furthermore, tick surveys have shown that tick populations have expanded to new areas of the country at a rapid rate. As more cases are being reported, it is critical to detect TBDs accurately and rapidly in order to provide early treatment. Emerging TBDs include Powassan virus which is mainly transmitted by the same ticks as Lyme disease. With the expanding territory of I. scapularis, and significant increases in the number of Powassan cases in the last decade, there is an urgent need for methods to detect POWV and other non-Lyme TBDs.