Interview with Giovanni Stracquadaneo, Co-Founder and COO of GenomeUp, the company that developed a digital ecosystem to support the diagnosis of rare genetic diseases

Giovanni Stracquadaneo is the Co-Founder and COO of GenomeUp, the company that developed a digital ecosystem to support the diagnosis of rare genetic diseases.

Prior to GenomeUp, Giovanni worked as Founder and CEO of i2M Factory, an international digital agency licensor of web software for multinational companies and universities consortia. He also has a strong experience in lobbing and public relations.

Giovanni graduated in International Legal Affairs at University of Malta, and received a Master Degree in Lean HealthCare Management at Università degli Studi di Siena.

Q: GenomeUp developed JuliaOmix™ a Software as Medical Device platform that supports the diagnosis and treatment of rare genetic diseases. Can you better explain JuliaOmix™ and its business model?

Giovanni: JuliaOmix™ is a Precision Medicine Solution based on A.I., distributed as a Software As Medical Device (SaMD) platform that allows to standardise the daily disease management workflow, in order to offer a novel approach to patient diagnosis of rare genetic diseases.

Our mission is to diagnose and treat rare genetic diseases in less than 24h, and to be the reference tool for any health body for the acquisition, retention and adherence engagement of rare genetic patients.

GenomeUp was founded in 2017, and developed JuliaOmix™, a solution for the all stakeholders involved in the diagnosis journey: physicians and genetics biologists.

JuliaOmix™ works with two smart tools, the JOMed™ (platform for Hospitals) and JOLab™ (platform for Laboratories), to collect patients’ health data (symptoms, drugs treatment and phenotypes) and combine them with the patient’s omics data (whole genome, exome and microbiome), in order to provide a digital in-cloud interactive clinical interpretation and report of genomic variants.

Therefore, thanks to A.I., JuliaOmix™ digitalises information parlays into “big data” informatics-driven evidence-based medical practice, allowing users to stay updated on modern discoveries, and at the same time to go deeper into the study of the case in question, without spending hours of databases’ research for finding useful correlations.

The SaMD platform is licensed on an annual renewable basis to hospitals and genetic laboratories companies, providers, research and government organisations. It is privacy compliant (GDPR), available in Italian (soon in English), and can be easily integrated with other offerings and white-labelled.

Q: How did the idea of GenomeUp come about? What is the market and its challenges?

Giovanni: GenomeUp was the idea of Simone Gardini, Founder and CEO, PhD in biotechnology at Università degli Studi di Siena. During his studies, Simone realised that, over years, the scientific and technological research in the field of genetics has focused mostly on the extraction of information from the patient’s DNA. Only few international companies were starting working on the genetic interpretation, therapy and trial evidence. No one was dealing with on microbiome interpretation and omics integration. There was a great opportunity to pursue.

In the world, there are 350 million people affected by rare diseases. The 80% of them are due genetic mutation. Currently, there are 7,000 known rare diseases, and the 80% of population with rare disease is children, while for the remaining part, symptoms only appear during adulthood. Moreover, 30% of children won’t live to see their 5th birthday.

The diagnosis journey is a hard and long process, which involves up-to 8 physicians, and lasts almost 5 years. During this time, a patient generally receives 3 misdiagnoses. Therefore, the average time for receiving a diagnosis is 8 years in according to Global Genes, and often it doesn’t provide an accurate solution or therapy.

With GenomeUp we developed a unique product that, unlike other precision medicine software, is addressed not only laboratories involved in the genetic interpretation, but also to physicians. This because our purpose is streamlining the entire diagnosis journey. The fact that we make the clinical genetic interpretation actionable by physicians is our actual competitive advantage.

Giovanni Stracquadaneo and Simone Gardini

Q: What results have you achieved till now? And what are the plans for the future?

Giovanni: The main results that we have achieved till now are:

  • signed notable partnerships, including the ones with Bambino Gesù Children’s Hospitals in Rome (our first-adopter, the second European Hospital for diagnosis on rare disease), University of Rome “Tor Vergata”, Toscana Life Science Foundation and The Bio Art Ltd (biotech start-up based in Malta);
  • published various clinical scientific papers in collaboration with hospitals and universities;
  • analysed 15.000 genomic samples, and 300 microbiome samples;
  • reached a partnership with a notable big pharmaceutical company’s diagnostic unit (listed in the Fortune 500 Global Companies), in order to offer JuliaOmix™ to the physicians and laboratories in its network. Currently the partnership is under non-disclosure agreement, but it will be announced soon.

Since its foundation in 2017, GenomeUp has raised € 630,000 amongst business angels, family offices, club deals, and institutional investors (such as LVenture Group SpA).

We just opened a new fundraising round of € 1 million in order to scale the company in Italy and abroad, and we are looking for visionary investors to support us in our moonshot.

Q: What do you think of doing business in Italy and what difficulties did you have when you started your business?

Giovanni: The Italian healthcare market is very complex due to some main issues.

The first one is the regional fragmentation of the healthcare administration. The Italian healthcare system is managed by the regions, which have set different tender procedures for suppliers. Therefore, sales methodologies can vary a lot between regions.

The second issue is that the Italian healthcare market is reluctant to introduce innovation. But starting from last year, in the misfortune of the pandemic, Covid-19 has accelerated a series of digitisation processes in the healthcare industry for necessity. Italy is far behind other European countries both in terms of digital infrastructure and digital literacy. But some research centres, headed by enlightened directors and researchers, have supported the adoption of new technologies.

Another issue of Italian healthcare system is late payments, which discourage both new ventures – which must be significantly capitalized and able to effectively manage their cash flows to exist – and foreign companies that could enter in the Italian market bringing innovation and stimulating competition.

The last issue that I see is the resistance in technology transfer. Italian research centres have plenty of projects and patents that unfortunately are not transferred to the market and industrialised.

When the barriers to entry into a market are particularly high by nature, there is a great opportunity for a start-up that enters the market in a specific “blue ocean” niche, because it can grow and scale easier, it is usually protected from competitors, which are discouraged.

And I believe that a biotech start-up (“hot” sector all over the world) that demonstrates the validation of its business model in a complex market like the Italian one, it can be of great appeal.


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For more info on GenomeUp, visit: https://www.genomeup.com/