Report

Teaser, summary, work performed and final results

Periodic Reporting for period 1 - ThyroTrust (A novel reliable diagnostic device to avoid unnecessary thyroid surgery)

Teaser

Genomnia was established in Milan in October 2008 focused on building and making the most of strong and solid knowhow in the main fields of genomics. The company is based in Italy with headquarters and laboratories located in Bresso (MI). In 2011 Genomnia became one of the...

Summary

Genomnia was established in Milan in October 2008 focused on building and making the most of strong and solid knowhow in the main fields of genomics. The company is based in Italy with headquarters and laboratories located in Bresso (MI). In 2011 Genomnia became one of the first Italian ISO 9001 certified SME for projection and delivery of Next Generation Sequencing Services for nucleic acids and Bioinformatic analysis by exploiting High–Throughput (SOLID 5500Xl, ION Torrent) sequencing technology. Thanks to the active participation in both Italian and international projects, Genomnia has developed and validated analytical models and proprietary algorithms that have enabled the company to achieve high standards of consistency and strong analytical reproducibility. Our team includes highly experienced professionals in the fields of Pharmacology, Oncology, Molecular Biology and Bioinformatics. Corporate skills cover the design of experiments, the production of Next Generation Sequencing (NGS) data and the field of Bioinformatics applied to biomedicine projects with special focus on DNA and RNA applications. Fine needle aspiration cytology (FNAC) is the best procedure for a timely and reliable diagnosis of either a benign or malignant thyroid lesion. However, the management of patients with indeterminate cytology (10-26%) is a frequent clinical and social problem, as this cytological category is associated with a 15 to 30% prevalence of malignancy, forcing most of these patients to diagnostic surgery. However, for the 80% of these patients the surgery is unnecessary as the postoperative histology reveal a benign lesion. The negative social and financial consequences of this approach are relevant in Europe (44000/year thyroidectomy only in Italy) as well as the adverse influences on the quality of life of the patients due to surgical complications and hormone replacement. We will introduce in the market the first clinically validated CE-IVD targeted Next Generation Sequencing diagnostic kit ThyroTrust for the correct diagnosis of thyroid nodules with indeterminate cytology. Our kit is the first to include a considerable number of variations in genes point mutations, rearrangements and gene expression level measured at the same time and associated with malignant outcome. This will avoid diagnostic surgery if a risk of malignancy <5%. In the present feasibility study we have tried to assess - Technology innovation opportunity and business idea - Development planning and partner search - IPR, quality, organization and manufacturing route - GO-TO-MARKET strategy and finally a business plan has been sketched. The technical and market feasibility have been fully assessed during Phase 1 and the outcomes of this assessment have endorsed the decision to go ahead with the clinical validation. At the end of Phase 2 we will launch on the market Thyrotrust, a tools of clinical utility in performing accurate diagnoses of thyroid nodules of indeterminate origins, currently requiring thyroidectomy, thus leading to improvement of patient management. The positive effects resulting from such tool are measurable in several terms:
Reduce a considerable amount of unnecessary thyroidectomy surgeries - Surgery costs has an average cost of €15,000 per patient. For Europe alone, this may lead to annual savings of €2 Billion. ,
Increased quality-of-life of patients, avoiding consequences such as thyroidal hormonal replacement and vocal cord palsy.

Work performed

In this phase we nourished the initially planned Phase 1 activities, which were namely:
1. Technological feasibility study: The gene panel has been optimized and we have acquired standard materials to evaluate the performance. Moreover, relating to the software development, we have modelled the business process, identifying the actors involved and the flow of the information and samples and identified a key partner for software development. The software will be integrated in the everyday routine handling of molecular diagnostic data and electronic reporting.
2. Market analysis: Analysis of user needs, competitive scenario, client segmentation, potential target, market dimension, competitor scenario has been started. This task has been e supported by the study of specialized reports, comparing information on potential competitors and alternative products, survey different potential users from industrial sectors, conducting exploratory meetings with industrial associations and professionals). Results show that as a whole the NGS market is valued at an estimated USD 4,031.7 million in 2016 and is poised to grow at a CAGR of 20.8% during the forecast period of 2016 to 2021. This is a dynamic market in nature and is witnessing many changes with new technologies and products being introduced to improve the efficiency and accuracy of the process.
3. Risk assessment: A preliminary analysis of the risks that are expected to be encountered during the validation, assessment and dissemination activities has been performed and results have been reported in the SWOT analysis planning actions to mitigate those risks, specifically: Delays in the clinical study validation; Delays in CE-IVD approval; changes in guidelines, protocols; Poor reception/ acceptance by healthcare professionals
4. Intellectual Property analysis: To determine the position of the technology developed in relation to the existing state-of-the-art a prior art search was conducted on more than a hundred patent databases to obtain sets of results relevant to the chosen subject of study. Based on the prior art search, although similar patented technologies offer solutions for a differential diagnosis of thyroid malignancy using FNA samples, the biomarkers to make this differentiation are diverse our invention has novelty compared to the state-of-the-art. Moreover Thyrotrust after the clinical study will rely on other several competitive advantages in respect to other similar technologies
5. Quality and regulatory routes: standard regulations and medical devices directives have been analysed and addressed to ensure the quality compliance, at the scope to obtain the CE mark. The clinical validation study has been designed and possible CROs has been identified to conduct the study on more than 4000 patients. Moreover a workplan and cost analysis for the validation study has been implemented with the CRO and clinical centers involved in the study have been selected.
6. Dissemination and exploitation strategy: the task regards dissemination and exploitation strategy, in order to maximize the impact coming from the expected results and an early economical and financial plan have been sketched and possible partners to maximixìze this task. To assess the operational and economic viability of the solution, the company has set a 5 year plan
in order to achieve a net profit of more than 2 million euros in 2023. the company has made the sales forecast, which at the same time permits to identify the associated operation cost and direct cost of developing and exploiting the solution. The results of this analysis conclude that the company will start having a small but significant profit aready 1 year after the end of the clinical validation.
launching the solution into the market
8. Partner search. The identification of partners for the panel and software production and distributors is in progress but we have achieved significant goals.

Final results

At the end of Phase 2 we will launch on the market Thyrotrust, a tools of clinical utility in performing accurate diagnoses of thyroid nodules of indeterminate origins currently requiring thyroidectomy, thus leading to improvement of patient management.
In ThyroTrust particular the positive effect resulting from such tool are measurable in several terms:
• Reduce a considerable amount of unnecessary thyroidectomy surgeries: Surgery costs has an average cost of €15,000 per patient. For Europe alone, this may lead to annual savings of €2 Billion. ,
• Increased quality-of-life of patients, avoiding consequences such as thyroidal hormonal replacement and vocal cord palsy.

Website & more info

More info: http://www.genomnia.it.