Applied Biosystems Genetic Analysis Virtual Conference

Successful sequencing of the human genomic brought great expectations for precision medicine. However, early efforts to understand common diseases under the “one gene; one disease” paradigm resulted in widespread failures in finding simple answers to complex questions, such as “the missing heritability of complex diseases.” This dilemma is part of a larger problem, that of Western medicine built on the germ theory of disease. In this paradigm, cases and controls are defined by the presence or absence of advanced clinicopathologic criteria – a crude “top-down” approach based on clinical features rather than etiology. The solution to improving the management of human disease must begin within a new paradigm of medicine (e.g. a bottom-up mechanistic definition of Precision Medicine), to address the descriptions and uses of genetic data based on mechanistic principles.

The ACMG/AMP and others have defined “pathogenic” genetic variants based on levels of evidence that a variant is associated with a Mendelian disorder (PMID:25741868). However, these high-impact variants tend to be rare, and are only responsible for a subset of common disorders. The challenge is in understanding how to use more common genetic variants that are clearly associated with disease (e.g. in a GWAS), but are neither sufficient nor necessary to cause that disease! We argue that continuing with a population-based, top-down approach alone cannot resolve this question of the “missing heritability” because there are too many variables for too few homogenous patient subsets.

Understanding how common variants contribute to disease demands that genomics, cell biology, physiology, pathophysiology, and medicine be integrated into epidemiology-based disease models. Using mechanistic modeling, we can view risk variants as “pathogenic” with variable impacts and effect sizes under specific conditions. This approach facilitates the determination of complex disease mechanisms in an individual patient.

The utility of Polygenic Risk Scores (PRS) is gaining researchers' attention for identifying individual genetic risk and disease risk prediction in Alzheimer's Disease (AD) at both the early and pre-symptomatic stages of the disease. genoSCORE™ combines Cytox's proprietary technologies variaTECT™, a proprietary single nucleotide polymorphism (SNP) profiling array built on the Axiom platform from Thermo Fisher Scientific, with the SNPfitR™ analytical and interpretive software incorporating algorithms developed in partnership with Cardiff University, to give a PRS that identifies any individual's genetic risk of developing AD from blood or saliva-extracted DNA. This can help in patient stratification for clinical trial research to develop targeted treatments for AD.

As the impact of COVID-19 continues to be felt across the globe, this webinar will review how Sanger sequencing and fragment analysis by capillary electrophoresis are contributing to efforts to understand the biology of the SARS-CoV-2 virus.

Microsatellite instability (MSI) has evolved as a marker of potential hereditary cancer risk and is now a tissue agnostic immune biomarker. Advances in immunotherapy and liquid biopsies have ushered in a new era of cancer treatment. In the expanding immunotherapy era of treating cancer, certain cancers can achieve remarkably durable cancer response and control. MSI-high is the first tissue agnostic predictive immune biomarker achieving FDA approval with immune checkpoint blockade therapy extended across multiple cancers irrespective of the anatomical tissue of origin and solely based upon a confirmed MSI-high status tumor biology. 

Advances in technology have now extended the capability of MSI testing to liquid biopsies. Liquid biopsy testing will be able to extend MSI testing and potential durable immunotherapy survival benefits in the future to patients that otherwise have tissue acquisition limitations. Liquid biopsy MSI can overcome the known heterogeneity of metastatic sites and allow treatment to specifically target the more aggressive metastatic clones. The potential utility of MSI-high based immunotherapy is now extending to earlier stages of cancers.

In our experience, liquid biopsy MSI has a higher incidence than tissue MSI in lung cancers and is associated with high tumor mutational burden (TMB) than microsatellite stable (MSS) cancers. Ongoing research of the potential dynamic changes and integration of liquid MSI with TMB, co-mutations, angiogenesis, and other components of an immune hot versus cold tumor microenvironment (TME) is needed to further extend the potential of cancer curability with immunotherapy.

Cancer is a growing burden in Africa. By 2040, it is estimated that cancer incidence will more than double in Sub-Saharan Africa, and that more than twice as many cancer deaths will occur in low- and middle-income countries compared to upper-income countries. While the majority of cancer cases in the US and Europe are diagnosed at an early (treatable) stage, the majority of African cancer cases are and will likely continue to be diagnosed at late (often untreatable) stages. Therefore, cancer represents a significant and under-appreciated public health problem in Africa. We have developed the Men of African Descent and Carcinoma of the Prostate (MADCaP, www.madcapnetwork.org) to address this emerging public health issue. MADCaP is undertaking research to 1) evaluate African ancestral relationships among African populations, 2) understand the relationship of ancestry with cancer etiology, and 3) understand the role of genetic and non-genetic factors in cancer etiology and aggressiveness. We have established the laboratory, clinical, and epidemiological infrastructure to undertake these studies. We have demonstrated that ancestry and candidate genes are associated with genetic susceptibility to cancer. Therefore, optimal prediction of cancer risk and outcomes may require race-specific marker panels including polygenic risk scores. By expanding the research infrastructure and capabilities of these consortia, we will address an important and increasing cancer problem in Africa, and we will build capacity for research in an underserved continent. In addition, the increase in knowledge about genomic diversity will inform cancer risk, prevention, and treatment for all populations.

Thermo Fisher Scientific is empowering you with the innovative technologies you need for researching reproductive health. From carrier screening to preimplantation genetic testing and prenatal and postnatal applications, our comprehensive research portfolio of reproductive health solutions can help you achieve your goals and positively impact families around the world. We strive to be your trusted partner on this inspiring journey toward better reproductive health.

Copy number variation (CNV) assessment is a critical component of precision medicine in almost all cancer types. For instance, copy number gain is a well described drug resistance mechanism to targeted therapies in several histologies. In patients treated with EGFR inhibitors, as an example, MET gene amplification is associated with resistance to targeted therapy; however, these patients are likely to respond to therapy. CNV assessment may also permit identification of targets for therapy. For instance, FGFR 1, 2, and 3 gene amplifications are recurring findings in urothelial carcinomas and may respond to FGFR- targeted therapies. CNV evaluation may also be of diagnostic value, as in the case of MDM2 gene amplification, which supports a diagnosis of liposarcoma.

Genomic profiling with microarray may also be valuable in hematologic malignancies. In cases of acute B lymphoblastic leukemia in which a karyotype is not attainable, a microarray genomic profile permits exclusion of hypodiploidy with endoreduplication, a known adverse prognostic factor. We have also shown the utility of microarray testing in diagnosing Burkitt-like lymphoma with 11q aberration, a recently recognized entity with aggressive behavior. Here we illustrate several examples of chromosomal microarray (CMA) testing in surgical and hematopathology applications.

Multiple initiatives are currently underway for setting up large biobanks with associated clinical and molecular data. The Million Veteran Program (MVP) was initiated by the VA in 2011 and has collected over 820,000 consented biosamples. The size and diversity of the MVP cohort, as well as the availability of extensive VA electronic health records, make it a promising resource for precision medicine. We report the characterization of the initial set of data for its ethnic diversity and its implications in disease association studies and risk prediction. Over 29% of participants self-report as non-white ethnicity. MVP has substantial diversity in genetic ancestry and is on its way to meets a pressing need for greater diversity in genome-wide association (GWAS) analyses.

The SARS-CoV-2 virus has created an unprecedented challenge to our healthcare system. Our understanding of the disease epidemiology and the causal organism is rapidly advancing with each passing day. Secondary and concurrent bacterial and viral co-infections are well documented for other viral respiratory pathogens, however our knowledge regarding co-infections with SARS-CoV-2 remains limited. The present study encompasses concurrent testing of 50,419 individual samples for the presence of SARS-CoV-2 and other bacterial and viral respiratory pathogens between March and August 2020. A total of 4,259 (8.4%) samples tested positive for SARS-CoV-2. Overall a lower rate of viral co-infection was observed in the SARS-CoV-2 positive population when compared to the population testing negative for the virus. Significant levels of EBV co-infections were detected in the SARS-CoV-2 positive population. Similar levels of bacterial pathogens were detected in both the viral positive and negative populations with significant co-infections of S. pneumoniae, H. influenzae and S. aureus. This is one of the largest surveys looking into the co-infection patterns of SARS-CoV-2 infection. Data from the present study will enhance our understanding of the current crisis.

Polygenic Risk Scores (PRS) have attracted increased attention in recent years as the power of PRS to predict individual disease risk has improved. These advances have been possible because of the development of tools for efficiently generating large genotype-phenotype datasets in European populations. Despite the remarkable advances in the development and application of PRS that have taken place, a significant limitation to their widespread use is the lack of tools and datasets that would allow application of PRS to Asian, African or Native American populations. In this talk I will focus on challenges to the development of PRS in Asian populations. South Asia in particular has a population whose genetics is the least characterized of any of the world’s major populations with a population structure that differs dramatically from that in Europe. I will describe studies that have characterized population structure in South Asia and tools that lay the foundations for economical and accurate genotyping at population-scale. Finally I will lay out the resource that will be built from these foundations and that will accelerate the development of PRS that are broadly applicable.

The presentation will cover our work to identify circulating miRNAs as biomarkers associated to cardiotoxicity both in patients and using an animal model of treatment. I'd like to discuss our recently published results about anti-cancer drug cardiotoxicity in patients and some data on animal models. We analysed the expression of circulating miRNAs in plasma of patients suffering from breast Cancer and treated with two anticancer drugs belonging to the anthracycline’s family: Doxorubicin and Epirubicin. After a screening conducted by open array, we confirmed the data using single miRNAs assays and identified a group of miRNAs which seem to be able to predict cardiovascular damage. This we proposed a model of prediction to be validated by future works. Similar work on an animal model of doxorubicin treatment evidenced the potential of circulating miRNAs as biomarkers of anthracyclines-induced cardiac dysfunction.

The novel highly transmissible human coronavirus SARS-CoV-2 is the causative agent of the COVID-19 pandemic. Thus far, there is no approved therapeutic drug specifically targeting this emerging virus. The aim of our work was to isolate and characterize a panel of human neutralizing monoclonal antibodies targeting the SARS-CoV-2 receptor binding domain (RBD). Peripheral circulatory lymphocytes were collected from patients during the acute phase of the disease. These were used as the basis of an antibody phage display library, from which highly neutralizing antibodies were isolated. These anti-SARS-CoV-2 antibodies recognize distinct epitopes on the viral spike RBD. A subset of these antibodies exert their inhibitory activity by abrogating binding of the RBD to the human ACE2 receptor. Taken together, our findings suggest that these antibodies might serve as an efficient treatment of COVID-19 patients or as a prophylactic immunization.

As more laboratories implement mechanisms to assess copy number aberrations across the genome in neoplastic disorders, a wealth of information has become available. In particular, greater clarity has been attained regarding the significance of certain copy number aberrations within specific tumor types, and paradigms for tumor classification and grading have been shifting to reflect the new findings. In this short discussion I will highlight some of these shifting paradigms and review how we in our lab have refined our approach to copy number data to match.

For the northern hemisphere, flu season is quickly approaching, and this year it will overlap with the ongoing COVID-19 pandemic. With it comes a number of questions: What might this mean for co-infections and how it might impact patient management? How does one distinguish these infections from each other and what role can testing play in this? Where do natural immunity, flu vaccines, and any potential COVID-19 vaccines fit in this equation?

Join us for a conversation with Dr. Manoj Gandhi, MD, PhD, Senior Medical Director for Genetic Testing Solutions at Thermo Fisher Scientific, to get his thoughts on what we may expect to see this coming Fall.

Cancer immunotherapy research is rapidly expanding our knowledge of tumor pathologies. In this talk, we will describe how Applied Biosystems™ TaqMan® gene expression panels, which query sets of genes important in tumor immuno-response, can be used to investigate colon tumor biology. We also analyzed microsatellite instability (MSI) using tumor and normal adjacent samples with the Applied Biosystems™ TrueMark™ MSI Assay. We analyzed the same samples with a TaqMan panel for T cell-inflamed gene expression and an anti-CTLA-4 resistance associated MAGE-A (CRMA) panel. To facilitate these analyses, we used Applied Biosystems™ TaqMan® Fast Advanced Master Mix and RFID-tagged pre-spotted plates on the RFID-enabled Applied Biosystems™ QuantStudio™ 6 Pro Real-Time PCR System. We correlated these expression patterns with MSI status and with PD-L1 antigen expression. Finally, we demonstrate how using RFID-tagged pre-spotted TaqMan Array plates that are run on QuantStudio 6 and 7 Pro Systems, followed by data analysis on Thermo Fisher Connect RQ gene expression analysis app, can streamline the workflow and reduce errors.

For Research Use Only. Not for use in diagnostic procedures.

Immuno-oncology (I-O) is the study of the ways in which body’s own immune system can be used to fight cancer. I-O research aims to develop cancer immunotherapies by enabling the adaptive immune system to recognize and specifically attack cancer cells while leaving healthy ones undamaged. I-O research can potentially uncover ways to enable immunogenicity of all types of cancer and facilitate long lasting, protective immunity against future recurrence. Immunotherapy is considered revolutionary in treating cancers and has become a standard of care along with chemotherapy, radiation, and surgery. Although immunotherapies have shown tremendous success in treating cancers, response rate to these agents is low and often associated with side effects. It is therefore important to find biomarkers which would predict response to immunotherapy with minimal side effects. Biomarker discovery in the immunotherapy space is complicated by the complex interactions between tumors and the immune system and by host and tumor variability. Many bioinformatics tools and new genomic and proteomic technologies are required to predict specific tumor signatures.

In this presentation we discuss the genetic analysis research tools available from Applied Biosystems and Ion Torrent to study biomarkers associated with immune check point inhibitors, adoptive T-cell transfer, and therapeutic cancer vaccines.

For Research Use Only. Not for use in diagnostic procedures.

Pharmacogenomics (PGx) provides meaningful data, and the technology you choose matters. As a provider offering the widest range of PGx research solutions and a leader in developing the PGx testing market, Thermo Fisher Scientific can help you identify your testing requirements, make it easy for you to pick the right technology, and get you started on your way toward the health care revolution.

Cultivated strawberry (Fragaria × ananassa) is one of our youngest domesticates, originating from interspecific hybrids in the early eighteenth century between geographically isolated allo-octoploid (2n = 8x = 56) species (F. chiloensis} and F. virginiana). The global F. × ananassa population has been reshaped through the introduction of alleles from nearly 200 wild octoploid founders, migration, admixture, directional selection, and population bottlenecks. Over the last century, several agriculturally important traits have been enhanced by modern plant breeding, thereby enabling the global expansion of strawberry production. The cultivars grown around the world today have primarily been developed through traditional breeding, partly because the genomics revolution came late to strawberry. Here, we review explosive changes in breeding approaches that have resulted from the assembly of a reference genome for octoploid strawberry, the development of octoploid genome-anchored SNP arrays, and other technical advances. We developed 50K and 850K Affymetrix SNP genotyping arrays to support genome-informed breeding and genetic studies in strawberry. These were constructed by identifying paralog- and homeolog-specific DNA variants across the genome. We will review the applications and importance of these SNP arrays and highlight the range of genome-informed studies that have been enabled by recent technical advances in strawberry. Genomic selection and other predictive genome-informed approaches, in particular, have significant potential to increase genetic gains and accelerate the development of genetically superior strawberry cultivars.

The worldwide spread of COVID-19 has stressed clinical laboratories in numerous dimensions including supply chain management, preanalytical throughput, analytical throughput, and extreme variances in testing demand. Innovative tests, such as the TaqPath COVID-19 Combo Kit, build on the strong technical foundation and substantial manufacturing capacity of Thermo Fisher Scientific while also leveraging the workforce of molecular biologists trained and experienced in real-time PCR techniques in order to address an unprecedented scale-up in test capacity required. Whether in a start-up laboratory or a well-established laboratory, successful ongoing testing with the TaqPath COVID-19 Combo Kit that is responsive to the needs of patients and physicians requires acute attention to detail in traditional areas of laboratory operations including quality control, workflow, labor allocation, standardized processes, and technician training, but the open format of the assay and associated analyses add additional challenges. This presentation will illustrate how the TaqPath COVID-19 Combo Kit is operationalized at a large regional reference laboratory with particular emphasis on the challenges unique to the assay.

In 2011 genomic selection (GS) was implemented in Swiss cattle and large-scale genotyping data became available. This significant change enables now a comparative approach between identification of haplotypes with reduced or missing homozygosity and GWAS for specific traits with available routine phenotype records. Both approaches have been performed using routine Swiss cattle data and have revealed genomic regions at significant level in homozygosity screens and in GWAS runs. WGS data was generated from informative samples and increased coverage of observed genomic regions.

Variants from regions under evaluation were selected for a tailored array design and combined first with known causal variants from the OMIA database but also with genome-wide protein-changing variants with predicted high, moderate or low impact. Array design was carried out using Axiom Microarray Genotyping Technology and resulted in a 310K array, at which 200K new variants were combined with 110K variants from the previously established routine GS system.

After thorough validation of the 310K-array, population-wide genotyping was done under the umbrella of routine GS where segregation in Swiss cattle was observed for a small number of OMIA variants that were believed to be absent before.

Second, genotype archive data was imputed to 310K-density after several thousands of routine samples were genotyped successfully. GWAS runs were repeated on 310K-density and compared with results from routine density. A full comparison of GS prediction accuracy is currently still ongoing, but 310K-based GWAS results indicate already an outperformance of routine results from previously known QTL regions by pinpointing several protein-changing variants as most significant associated markers. For example, the DGAT1 K232A variant for fat yield, or the APOB loss-of-function variant for heifer rearing success illustrate both, a proof-of-concept and the power for the detection of further causal variants in future.

Health disparities exist among various ethnicity groups in the United States, with differences observed in disease prevalence, mortality and medication responses. Together with multiple social-economic factors, genetic variations contribute to the variability across the populations. Pharmacogenomics (PGx) is the study on how genetics explains the individual’s variabilities in responses to medications. Despite the tremendous progress made in PGx research in the past decades, most of the studies have been conducted mainly on populations of European descent. Recently, FDA also issued a draft guidance to address the issue of lack of diversity in clinical trials. Increasing the ethnical diversity in research and clinical trials is an important step to close the health disparity in personalized medicine. The presentation will discuss the advantages and how to overcome the challenges of conducting high-throughput comprehensive PGx testing in order to accelerate ethnicity-unbiased personalized therapies and reduce health disparities among populations.

Molecular breeding can significantly reduce the cost and time required to deliver improved plant and animal species for agricultural use. Advancements in genomic technologies are accelerating these breeding programs by enabling higher-throughput genotyping across large populations than ever before. Applied Biosystems AgriSeqTM targeted genotyping by sequencing (GBS) solutions are our latest innovation that helps our customers economically deliver high-throughput plant and animal genotypes.

The AgriSeq targeted GBS solution utilizes a highly efficient multiplexed PCR chemistry where hundreds to thousands of markers can be targeted and uniformly amplified in a single reaction. The amplicon libraries can then be barcoded and pooled for simultaneous sequencing of hundreds of samples on the Ion Torrent suite of next-generation sequencing (NGS) instruments. One of the powers of this technology is its capability to support multiple types of markers including single nucleotide polymorphisms (SNPs), multiple nucleotide polymorphisms (MNPs), insertions and deletions (InDels), and other structural variants (e.g. inversions, duplications). At a cost of pennies or less per genotype, AgriSeq targeted GBS is capable of generating up to 2.6 million genotypes per day from high-quality NGS data. Whether you’re looking to achieve more accurate marker-assisted breeding selection, or to improve your livestock parentage discrimination and trait monitoring, our solutions can help advance your plant and animal breeding programs.

The talk will detail how AgriSeq™ targeted GBS is successfully being used as a high throughput, customizable and cost-effective genotyping solution in aquaculture, animal and plant breeding studies, parentage testing and genetic purity.

With the on-going COVID-19 crisis, we now know that testing volumes must increase in order to help restore our communities back to some degree of normality. But questions remain: How can labs scale while minimizing costs? How can they be assured of uninterrupted supply of tests and reagents? In this webinar, we introduce the upcoming Thermo Fisher Scientific™ Amplitude™ Solution—a highly-automated molecular diagnostic testing system that can analyze over 6,000 specimens in a single day with the reliability and confidence of assured assay and reagent supply, along with 24/7 world class service and support.

The study of human development and diseases relies on analysis of samples obtained and manipulated ex-vivo. It is critical in such studies to know the provenance and confirm that the identity of these materials is correct. Furthermore, it is critical to confirm that once manipulated, these cells have the desired differentiated characteristics and have maintained genome integrity. In this study, we describe a complete workflow for quality control of ex-vivo manipulated human cells, including cell lines, induced pluripotent stem cells (iPSC) and chimeric receptor T-cells (CAR-T). Analysis of short tandem repeats (STRs) was used as a molecular “fingerprint” to track and confirm the identity of the manipulated cells. Pluripotency of iPCS was determined by analyzing the expression of a panel of differentiation-state specific genes. Genomic integrity was analyzed by molecular karyotyping using high-resolution microarrays. The presence or absence of pathogenic oncogenes in the manipulated cells was determined by sequencing a panel of oncogenic hotspot loci. Together, these results and robust workflows provides a comprehensive quality control of human cells, critical for the establishing clinical research-compliant ex-vivo manipulation methods.

Testing, reporting, and translation of pharmacogenetics (PGx) into clinical recommendations require vast knowledge resources. The Pharmacogene Variation (PharmVar) Consortium catalogs pharmacogene variation and provides standardized nomenclature that is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetic Implementation Consortium (CPIC). PharmVar allele definitions are also widely used for test design and reporting. This presentation provides an overview of PGx resources that are needed in the research setting as well as to facilitate implementation of PGx into clinical practice.

The Clariom GO Screen Assay is a transcriptome profiling solution that provides a high-throughput, low-cost method to directly measure the expression of ~20,000 genes. With relevant probes derived from the Gene Ontology (GO) Consortium and content developed in collaboration with pharmaceutical researchers, this assay helps you quickly assess changes in key genes and pathways. Whether you want to accelerate the development of new drug compounds, reduce reliance on animal testing for toxicological research, examine cellular response to cosmetic or skincare formulations, or rapidly identify immune-response pathways involved in novel infectious diseases such as SARS-CoV-2, Clariom GO Screen Assay is a reliable, low-cost platform that speeds your time from experiment to analysis.

Pharmacogenomics represents a potentially powerful enhancement to current wellness and medication risk management programs. However, challenges must be addressed to successfully implement these programs especially in large populations where the members and their prescribing physicians are naïve or misinformed to the utilization of genetics for personalized prescribing. We will describe the population assessment, program implementation, and outcomes for a 35,000 member, state-run, Medicare-eligible retiree population, and its relevance across poly-pharmacy and working well populations.

Since the first African swine fever (ASF) case was reported in China in August 2018, China has made significant upgrades to their pig industry, including implementing effective biosecurity measures and surveillance testing and progressively restructuring their industry. Dr Lixiang China will talk about the way his customers have used the qPCR test to identify positive animals and remove them from their herd.

The TAILORx clinical trial showed that up to 70% of patients with breast cancer with estrogen receptor (ER+) do not benefit from chemotherapy. However, these patients continue to develop recurrences when treated with endocrine therapy alone. The addition of CDK4/5 inhibitors to endocrine therapy results in significant (8-12 months) delay in progression of disease. There is critical need to understand the mechanisms of resistance and development of novel targets/therapies for prevention of endocrine resistance and recurrences of ER+ breast cancer. We have recently demonstrated that Epithelial Splicing Regulatory Protein 1 (ESRP1), an epithelial cell-specific RNA binding protein and splicing factor, is associated with poor prognosis and endocrine resistance in human ER+ breast tumors (Gökmen-Polar, EMBO Reports 2019). We documented a novel role for ESRP1 in altering metabolic pathways by altering both gene expression and alternative splicing events. ESRP1 silencing further impacted cell/tumor growth and metabolism significantly. CDK4/CDK6 inhibitor effectively decreased the expression of proliferation pathway significantly, but did not block the metabolic alterations. Here we seek to investigate associated molecular mechanisms by performing RNA Binding Protein (RBP) immunoprecipitation followed by Clariom D transcriptomics microarray (RIP-Chip) to identify mRNA binding partners of ESRP1. RIP-Chip analysis identified PHGDH, a key metabolic enzyme, as a binding partner of ESRP1 in ER+ breast cancer. Binding was further validated using RNA electrophoretic shift assay (REMSA) against 5’ UTR probes and RIP-RT-qPCR. Further functional characterization in vitro showed that ESRP1 posttranscriptional regulates PHGDH by affecting its mRNA stability. Seahorse metabolic analyses of the PHGDH knockdown cells significantly reduced oxygen consumption rate (P<0.04) mimicking the effects of ESRP1 knockdown. In conclusion, this study documents a non-mutational pathway in mRNA and protein down regulation and altered cellular metabolism. We anticipate that the insights garnered from these studies will enable a more precise molecular understanding of metabolic pathways of endocrine resistance and facilitate discovery of new therapeutic targets for treatment of endocrine resistance.

Building upon the highly successful PreCISE-Rx clinical implementation program, we recently launched a Pharmacogenomics Center of Excellence to combine expertise and technology in genomics, implementation science, and medication response phenotyping. The Center aims to discover and deploy novel testing technology, validate medication response predictors in patients, overcome clinical implementation barriers and demonstrate the value of pre-emptive PGx testing in routine clinical practice across one of largest health systems in the nation. The lead project will evaluate the value of pre-emptive PGx testing in >150,000 individuals through an innovative research-clinical model and disseminate proof clinical utility, and economic proof points.

This session will describe that model and efforts to return results to the EHRs, to providers, and to individuals to leverage the value of pharmacogenomics to achieve precision prescribing.

Applied Biosystems MagMAX CORE Nucleic Acid Purification Kit is a flexible sample prep solution designed to meet lab’s current and future testing needs. It is optimized to purify nucleic acids from the widest range of animal health sample matrices, and helps make labs more efficient by offering greater convenience, consistent performance, time and cost savings, while resulting in fewer workflow interruptions.

With SARS-CoV-2 infections still spreading around the globe, we will soon be at a point where influenza and RSV infections will overlap with COVID-19. With that knowledge comes a number of questions: What might this mean for co-infections in both adults and children and how it might impact patient management? How does one distinguish these infections from each other and what role can testing play in this? Where do natural immunity, flu vaccines, and any potential COVID-19 vaccines fit in this equation?

Join us for a conversation with Dr. Manoj Gandhi, MD, PhD, Senior Medical Director for Genetic Testing Solutions at Thermo Fisher Scientific, to get his thoughts on what we may expect to see this coming Fall.

The global Precision Medicine (PM) market is projected to reach $134bn by 2025. The recent BEIS PM Science & Innovation Audit (SIA) evidenced a game-changing opportunity for Glasgow to capitalise on this rapidly growing market by harnessing existing strengths and leadership in PM to drive economic growth in one of Glasgow's and the UK's most deprived areas (Greater Govan).

The overarching aim of the "Living Laboratory" (LivingLab) is to create an internationally significant PM campus integrated with the Queen Elizabeth University Hospital (QEUH) - the UK's largest hospital. The campus will be a focal-point for R&D, open innovation, commercialisation and adoption - bringing industry, academics, clinicians/NHS managers, patients and charities together to build on existing achievements and unlock substantial productivity growth opportunities associated with PM. By delivering a highly supportive environment, the LivingLab will address the biggest challenge in PM - translating innovation into clinical practice.

The pharmacogenomics use case is designed to look at a population who are 65 years of age or more and take multiple medications. Preliminary analysis of 165,000 individuals showed that the average number of medications per patient was 8, the most prevalent condition was high blood pressure, and diabetes was the most-costly. Approximately 22% of this cohort are at risk of medication failure or a significant adverse reaction, and 71% are taking at least one drug with known genetic implications. Our preliminary health economic analysis showed cost savings of more than £85 million over a three-year period, encouraging us to move forward with a real-life implementation of pharmacogenomic testing.

LivingLab has been developed by an impressive consortium of public and private sector partners in the local geography, with advice from international PM leaders. All are fully committed to developing a global centre of excellence for the implementation of PM.