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All-in-one genetic test for fast and accurate diagnosis of the causes of infertility

Periodic Reporting for period 1 - One4Two (All-in-one genetic test for fast and accurate diagnosis of the causes of infertility)

Reporting period: 2019-02-01 to 2019-07-31

KronosDNA is a biomedical SME, spin-off of University of Naples Federico II, specialized in Reproduction Genetics. It is founded by 3 female researchers with technical and scientific skills who have been involved in scientific and translational research for the development and optimization of prenatal and pre-implantation diagnosis. In this context, the One4Two project is born and developed.
One4Two is an integrated system designed to optimize the genetic diagnosis of infertile couples, looking for infertility cause and preventing further genetic alteration transmission.
It consists of a kit with laboratory reagents for molecular analysis + a software specially designed for data analysis and report generation.
Today, infertility affects 1 out 6 couples, 25 million citizens in Europe and nearly 90 million couples worldwide. The current diagnosis process is a long-lasting and exhausting process for the couple, which goes through a series of genetic tests each designed to tackle genetic diseases which have infertility as side-effect: on one side this forces the couple to undergo several batteries of test for the most frequent to rarer mutations through several blood sampling, often in different labs, which turns into long diagnosis times (up to 9 months); on the other side, as there are hundreds of genes that influence the reproductive function and contribute to infertility and is currently unfeasible to run a comprehensive analysis assessing all of them, the genetic causes of infertility remain unexplained for 20% of patients.
One4Two is the first all-in-one system that provides a comprehensive diagnostic test for the infertile couple, able to cover all the phases of diagnostic path from the laboratory analysis (through a specific lab protocol to analyse the DNA of the couple) to the diagnostic report (by means of a proprietary analysis software).
The objectives of the project are both technical and business. The company aims to complete the technical development of One4Two and study the performance/specifications to obtain CE Mark. Moreover KronosDNA focuses its effort on completing a deeper market analysis in 4 target countries, and consolidate the business plan validating the current business model, price and marketing strategy by interacting with key stakeholder in the fertility sector.
The system optimization started from the study of the actions that are undertaken in fertility risk identification and treatment. The result of this study was published by the team on J Transl Med.
The core system, which is the screening engine, was further developed and the v1.0 version now includes 15 families of pathologies, covering Male, Female and Both pathologies.
The report graphic interface was reviewed taking into account the indications/needs of gynaecologists consulted through a questionnaire of utility and satisfaction.
The team carried out a laboratory validation by blindly assessing a cohort of 100 samples previously analysed using traditional laboratory methods.
The reporting system on which One4Two software is based makes it possible to interpret the genomic variants by supporting the assignment of the correct risk categories according to the ACMG standard, generating a report that includes:
• Integration of the specific literature for infertility
• Integration of the knowledge acquired by the laboratory over time
• Results of the prediction tool
• Alteration of peptide features
• Frequency data in public databases (EXac, 1000GP, dbSNP).

A deep study over Certification path and Regulatory framework allowed to identify the path to follow to certificate using the Regulation MDR 2017/745 for medical device, identifying the system as Class IIb. KronosDNA started the research to identify the most suited partner for dealing with Regulation filings and Clinical Trials. During the Feasibility Study KronosDNA identified a global consultant for these activity, validating even the forecasted costs.
The market analysis allowed to refine TAM and SAM. Then the team undergone a series of analysis which leaded to upgrading the business plan with SWOT and PESTEL analysis, Customers and key partners segmentation, Competition analysis, Pricing (cost/benefit) and distribution strategy, value chain refining and including measures for risk management.
On the market there is a large number of genetic tests available, each directed to investigate whether a subject is affected by (or is a carrier of) a specific disease, like cystic fibrosis, thrombophilia mutations (e.g. Roche LightCycler based on colorimetry for thrombophilia), Y chromosome microdeletion, etc. These tests are provided to couples by laboratories and genetic clinics, but unfortunately rarely a laboratory can provide all the required tests, thus gynecologists need to work with many different laboratories. Their cost can vary depending on the laboratory (a single test for a gene mutation can cost up to 500€), reaching an average cost for couple of 2,500€ for two complete genetic tests (diagnostic and preventive purposes).
Compared to actual competitors, One4Two is the first kit that allows laboratories to offer a complete diagnostic service to infertile couples with a reduction in time and costs.
The main features that underline its competitive advantage over the traditional methods currently used are high performance (simultaneous analysis of more than 30 genes), greater reliability of results (> 99.9%) with the reduction of the incidence of false positives (<0.1%) and the highest sensitivity with the reduction of the incidence of false negatives <1%.
Overall One4Two is poised to reduce the time for diagnosis for a couple down to few days, which is revolutionary in this sector. Moreover all the results are gathered in a single report with a simple and clear data presentation, which will help gynaecologists in the interpretation reducing the human error caused by the adoption of many different tests, one for each pathology.
One opportunity highlighted by some stakeholders is related to National reimbursement: currently to have a complete clinical frame a specialist needs a lot of different diagnostic exams, which can be reimbursed by National System (for example in Italy) but are only available on certain labs. Thus a couple needs to travel across the country to go to different labs, and each lab will then send the reports to the specialist. This situation leads to unbelievable expenses for the whole value chain (the couple, the labs and the National System). There is a clear space to apply for National Reimbursement for One4Two, due to this improvement for results/money ratio, especially for National Health Systems.
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