ESHG Champions Research in Genomic Medicine

Genomic medicine, which enables precision-based therapies that can target mutations at the cellular level, is leading to breathtaking advances in disease diagnostics and treatment.

The European Society of Human Genetics (ESHG), created in 1967 by a small group of geneticists, has developed into Europe’s preeminent annual conference to promote research and encourage best practices in applications of human and medical genetics.

In June, the ESHG held its 2018 conference in Milan to foster this trend. More than 3,500 academics, clinicians, and representatives from diagnostics companies and other medical technology companies from Europe and all around the world gathered to examine the advances in medical genomics. The ESHG is well known for partnerships with some major diagnostic biotech companies and offer a host of presentations from scientists and medical researchers.  

Twist Bioscience’s Announcement: Next-Generation Sequencing (NGS) Expansion

Twist Bioscience (Twist), an ESHG 2018 sponsor, made its mark at the conference, deploying a large booth and presenting a workshop led by CEO Emily Leproust, PhD.

Twist Bioscience also announced the expansion of its NGS Target Enrichment Solutions. The expansion of  Twist’s Human Core Exome Kit includes the capacity for high throughput with the ability to run up to 96 samples simultaneously.

“Our product line enables medical researchers and pharmaceutical developers to target the specific regions in the genome that they want sequenced,” Leproust said. “Building on the successful launch of our target enrichment products earlier this year, we are now introducing our high throughput NGS Solutions to provide researchers with the important tools they need to advance their work rapidly and cost effectively.”

Twist Bioscience’s booth at ESHG

Workshop Presentations

Several of Twist’s customers spoke at the workshop about the benefits they have achieved with the company’s products.

The lineup includes:

• Emmanuel Martin: director, Genomics Services at IntegraGen SA, of Évry, Essonne, France.  IntegraGen  provides genome analysis for the development and commercialization of molecular diagnostic tests for autism and oncology;

• Massimo Delledonne, PhD: co-founder of Personal Genomics SRL a spin-off of the University of Bologna; and

• Tina Han, PhD: team leader for research and development at CeGaT GmbH, a Germany-based global provider of genetic diagnostics and mutation-related disease analysis.

Han said CeGat had sought a more precise genome for its research, and found it with Twist Bioscience’s Exome Kit. Using data from CeGat’s comparative evaluation of exomes from Twist Bioscience and other companies, Han said Twist Bioscience provided unprecedented coverage at minimal sequencing. This higher coverage not only provided more confidence in variant calling, but also made TMB estimation and MSI status more precise.

In a comparison with competitors, Han evoked the World Cup soccer competition. "Twist wins," she said.

More Groundbreaking News From ESHG

A host of researchers chose the conference venue to release results of their studies. Some of the top announcements at ESHG included:

• The Manchester Centre for Genomic Medicine, with Genedrive plc, a molecular diagnostics company, said they developed a rapid genetic test that could prevent hearing loss in newborns with sepsis. The test distinguishes those infants who will have this adverse reaction to the antibiotic gentamicin.

• Scientists at the Institute for Molecular Medicine, University of Helsinki, Finland developed a web-based tool that allows patients and doctors to see and manage genomic information based on 49,000 disease-associated genetic variants and lifestyle-associated risk factors. They said that giving personal genomic information to individuals can have a major, long-term effect on their lifestyle.

• Rady Children’s Institute for Genomic Medicine, of San Diego, presented research showing that rapid Whole Genome Sequencing  (rWGS) is able to return results in 48 to 96 hours, whereas standard genetic testing takes six to eight weeks to provide a result. As rWGS can help diagnosis and reduce healthcare costs for neonates in intensive care.

Our understanding of genomic medicine will no doubt increase as a result of events such as ESHG 2018. “This is an exciting time to be in this field,” said Leproust. “There is a massive acceleration in the rate of discovery and the rate of understanding because of the confluence of multiple forces.”

Featured image: Courtesy of the European Society of Human Genetics