Emedgene addresses three main issues. Firstly inefficient Clinical Interpretation(a critical analysis of patient laboratory data in order to assist with clinical decision making) is both a complex and labour-intensive task. There is an increasing volume of genetic sequences, bioinformatics methods, variant and mutation data, and research publications to take account of which makes clinical interpretation a costly area of genetic testing, with limited scalability, long turnaround times and low diagnostic yields. Today it can take about 7 years and 8 different specialists before a correct diagnosis is made. Secondly this is not aided by the difficulty in bridging the gap between genomic data and clinicians: Most clinicians are untrained in genomic medicine and are thereby incapable of effectively interpreting genomic data for the purposes of making a clinical decision creating a shortage of qualified people and long wait lists for patients. This is not just a problem in Europe but worldwide, and effects developing regions much more harshly. Thirdly, there are approximately 350 million people around the world who suffer from a rare disease. With only a third of an estimated 7,000 diseases having clearly established genetic basis, many patients lack correct diagnoses. This impacts available treatment and the management of the condition for patients creating further burden's to their suffering.
Clinical Interpretation remains a costly and labour-intensive task, limiting scale, lengthening turnaround times and achieving lower diagnostic yields. It is becoming the major – and rising – cost in genomic medicine. Meanwhile, sequencing costs continue to fall (from ~€15,000 before 2010 to ~€1,000 in 2015 and expected to fall as low as ~€500 by 2025). Customers using Emedgene’s platform benefit from more advanced technology that achieves better results, and is cost-effective at €100 per test. The ability for Emedgene’s solution to assist in developing regions also allows for them to tap into unserved markets and quickly become the only solution available for diagnosing patients through the analysis of their genetic data. Unfortunately due to the lower available funds in these regions, they are unable to have many, if any geneticists at all. By using Emedgene’s decision support, the small population of trained geneticists will be able to serve larger patients population in developing countries.
The next step to achieve commercialization is a systematic survey of stakeholder’s (customers, users, patients, regulatory bodies, etc.) requirements, expectations, and needs. Using this feedback, the specifications and features of a MVP that suits the customers’ and users’ specific requirements will be determined. A development plan for the software updates will be devised and undertaken. Once the algorithms have been rewritten, compliance tests with necessary regulations and standards will be conducted. The forthcoming pilot trial will validate the effectiveness and claims of the solution.
