Ion World in 2017

This year, the 6th annual Ion World event took place in a broadcasting studio in Amsterdam where clinicians and scientists discussed the future of genetic analysis and how it will affect our lives. Guests enjoyed keynote presentations by leaders in oncology, human identification, inherited disease, and reproductive health research. Over 1000 guests joined the conversations via satellite from across Europe.

The potential of precision medicine

Next generation sequencing solutions (NGS) are playing an increasingly vital role in our lives. Dr Anagh Vora MD, Sr. Medical Director at Thermo Fisher Scientific in immuno-oncology and molecular diagnostics started the session talking about the promise of precision medicine. There is a growing attention to genetic testing in the practice of medicine. Thermo Fisher Scientific provides testing solutions to advance precise therapies and personalised patient care. Later in the morning session Andy Felton, Vice President of Product Management and Market Development for Clinical Sequencing introduced the new developments and state of the art of the Ion Torrent technology. Ion Torrent technology is effective for a range of applications including oncology, human identification, clinical microbiology, and genetics research. In 2017 the technology is commonly used in gene expression profiling, chromosome counting, detection of epigenetic changes, and molecular analysis and as such, is driving discovery and enabling the future of personalised medicine. The targeted panels offer customisation using the On-Demand Ampliseq panel designs with the Ion Torrent technology. There are over 3000 pre-validated genes in the new database giving the opportunity for researchers and clinicians to tailor their targeted panel best suited for the studied disease’s genetic analysis. The product portfolio offers Oncomine panels for solid tumor and liquid biopsy sample characterisation. A newer addition is the Oncomine Immune Response Research assay to measure the expression of genes involved in tumor-immune interactions, including the low-expressing genes involved in inflammatory signalling. The Ion AmpliSeq Immune Repertoire Assay Plus, TCR beta, is designed to measure T cell diversity and clonal expansion by sequencing T cell receptor beta chain rearrangements. This assay utilises a newly developed long-read sequencing technology on the Ion S5 and Ion S5 XL platforms. Dr Albrecht Stenzinger (University Hospital Heidelberg, Germany) had further discussion about the potential of immune-oncology therapies. For personalised medicine we need a series of clinically-relevant biomarkers in order to define cancer subtypes, guide treatment options and monitor treatment resistance, as well as to optimise the manufacture and function of therapeutic T-cells. Professor Orla Sheils, (Trinity Translational Medicine Institute, Dublin, Ireland) discussed the possible future of treating cancer as a chronic disease. Utilising multiple molecular diagnostic solutions for cancer diagnosis and preventative therapy with the proper patient management can make medical care more economical and effective in the future.

New approaches to human genetic diseases and transforming reproductive health

Ion Torrent technology in 2017 provides a new approach in studying and diagnosing genetic diseases. Professor Alessandra Murgia (University of Padova, Padova, Italy) focuses on understanding neurodevelopmental disorders, intellectual disability/autism spectrum disorders, early onset epilepsy, and hereditary deafness. Her research could successfully use the On-demand Ampliseq panels and gene database. Dr. Luis Alcaraz (Bioarray, Elche, Spain.) uses next generation sequencing for investigating the causes of reproductive failure (pre-implantation genetic screening, PGS) with the aim of improving success rates of in vitro fertilisation (IVF). Reproductive failure happens when embryos carry the wrong number of chromosomes. We can identify these chromosomal abnormalities and at the same time, detect specific disease-causing mutations in pre-implantation embryos using NGS. The improving molecular diagnostics, CRISPR research and success rate of in vitro fertilisation provoke an interesting discussion and raised ethical concerns about possibilities of curing genetic abnormalities before implantation.

What’s in our gut affects our health

Next Generation sequencing and Ion Torrent technology also mean new ways of looking at microbial communities and discovering relationship between microbiota and human health. Dr. Hugo Roume is a Research Engineer at the French National Institute for Agricultural Research (INRA) in the MetaGenoPolis unit (MGP) at the Research Centre of Jouy-en-Josas. The unit uses molecular biology, high-throughput sequencing for shotgun metagenomics and bioinformatics analysis to rebuild each of the 300-400 bacterial genomes present in our guts. Hugo‘s main research topics focus on modelling microbial interactions at taxonomic and functional levels to better understand the microbial community structure and function relationship. In the last 5 years the MetaGenoPolis Unit has been investigating how the microbial make-up of the human gut can affect health outcomes in a variety of ways. Some of the data is supporting the model that the gut microbiota is a sensitive ecosystem and can influence the immune system and even our neurological system. Recognising dysbiosis links to inflammation, obesity, Crohn’s disease, cardiovascular disease and cancer can improve therapy of these conditions.

Ion World in human identification (HID)

Professor Walther Parson (Institute of Legal Medicine, Innsbruck, Austria) focuses on next generation sequencing techniques in human identification. In the age of NGS not only is human identification possible from forensic or archaeological samples with higher accuracy but the growing human sequence database allows us to predict features of the suspect or the historical figures. Next generation sequencing can be a very powerful tool in investigations but the feature prediction possibilities can raise ethical concerns. The same technology can be used to predict the features of a couples unborn child.

Scientific Creativity

The event closed with Dr. Isaac Garcia-Murillas’s talk (Institute of Cancer Research, London, UK). His focus is on the use of circulating tumour DNA (ctDNA), and other nucleic acids, from plasma and serum. Dr Murillo echoed Prof. Orla Sheils words that cancer and cancer patients can be managed in a new way in the future. Circulating tumour DNA has potential biomarkers for early cancer detection, monitoring risk of relapse following chemotherapy and surgery. It can help stratifying patients to targeted therapies and identify resistance to therapies. Scientists know that insufficient sensitivity, library preparation error or sequencing errors exist however critical thinking and using NGS and other molecular diagnostic methods in a creative way can be powerful tools in early diagnosis and successful therapy.

Gyongyi Lukacs, PhD

Field Application Specialist

Bio-Sciences Limited

The Ion World in 2017