xGenCloud

Cloud service intended for automatic interpretation of genetic tests results, allows to form detailed genetic conclusion. Cloud service intended for automatic interpretation of genetic tests results, allows to form detailed genetic conclusion. Authors and developers: Igor Ugarov, MD, PhD xGenCloud

Business model I NEEDS OF CLIENTS WHICH WILL BE PROVIDED BY SERVICE 1.Automatic formation of the individual list of necessary genetic analyses for the patient depended on his (her) phenotype, family history, drug consumption, and environmental factors. 2.Automatic interpretation of genetic tests results and formation of detailed genetic conclusion. xGenCloud

Business model II 1.Increasing of sales volume of genetic analyses; 2.Decreasing of expenses for clinical geneticist in staff of clients business; 3.Development of such modern and perspective field of knowledge as predictive (personalized) medicine allows clients business to remain competitive; 4.Increasing of sales volume of all other services offered by medical center (medical consultations by doctors of various specialties, other laboratory tests, and instrument investigations) – this will be provided by including special recommendations in every genetic conclusion for the purpose of prevention of this or that complex disorder. ADVANTAGES OF USING xGenCloud SERVICE FOR BUSINESS OF CLIENTS: xGenCloud

PRICE POLICY: Monthly fee 1. Payment for automatic formation of list of required genetic tests. 2. Packages of certain number of interpretations of genetic tests results. It is also possible to pay for each interpretation * The price is depended on number of tested genes (polymorphisms). xGenCloud Business model III

SCENARIO OF SERVICE USING: Medical consultation of patient by the doctor of certain medical center (hospital). ↓ Using service xGenCloud during consultation the doctor gets individual list of genetic tests (genes and polymorphisms) which should be done for the patient depending on phenotype, family history, drug consumption, and environmental factors (all these factors need to be entered into the software). ↓ According to the list of administered genetic tests patient sample is analyzed by any genetic laboratory. ↓ After receiving genetic results the doctor enters results into the software xGenCloud and gets automatically generated detailed genetic conclusion which explains him what kind of genetic predisposition his patient has and what should be done to prevent the disease. ↓ Finally patient receives text file with genetic conclusion which includes individualized recommendations regarding supervision and examination by certain doctors, also list of additional laboratory tests and instrument investigations which should be carried out to decrease risk of the disease. As a result patient continues to attend medical center (hospital) on regular basis. xGenCloud Business model IV

POTENTIAL CLIENTS: - Genetics laboratories - Medical-genetic consultations - Research institutes - Medical centers offering genetic testing:  Hospitals (centers) of reproduction  Centers of anti-age medicine  Sanatoriums  Other The system is intended to help doctors of various specialties who consult patients with common disorders (multifactor diseases), allows to test patients for genetic predisposition correctly and to receive automatically generated conclusion by results of genetic testing. MARKETING STRATEGY xGenCloud

ADVANTAGES BASIC ADVANTAGES OF xGenCloud AGAINST COMPETITORS:  Complex data analysis  Using of possible data maximum  The most extensive database  Constant updating of the service  More than 10 years experience in the field of development of software for medical genetics of software for medical genetics  More than 5 years experience in the field of predictive medicine  The volume of interpretations is not limited (service can provide as much interpretations as clients business needs) interpretations as clients business needs) xGenCloud

- Catalog of signs includes terms and allows to describe in detail phenotype of the patient. Catalog of diseases which intended to describe family history includes more than 3000 nosological forms. - More than 2000 pharmacological drugs are included in the medicines catalog. All drugs are in terms of INN (international nonproprietary names) which allows to define medicine exactly and to consider its active components. - Catalog of environmental factors allows to consider habits, life-style of the patient, and influence of various exogenous factors on development of multifactor diseases. - Catalog of genes gives information about genes, 6000 genes are described with their associations with different diseases. - Use of gene networks allows to consider interaction between genes in algorithm of selection for DNA diagnostics. DESCRIPTION I xGenCloud

Program based on platform xGen IDS xGen IDS which is registered in the State register of programs № May 07, 2008 DESCRIPTION II xGenCloud

EXAMPLES I Examples of input of phenotype signs, family history, and prescribed medicines xGenCloud

Result of genes selection in the form of list after entering certain parameters EXAMPLES II xGenCloud

Catalog of gene networks (example of searching for gene network of an acute nonlymphocytic leukemia) EXAMPLES III xGenCloud

Catalog of genetic associations EXAMPLES IV xGenCloud

AUTOMATICALLY GENERATED GENETIC CONCLUSION 1. Introduction (short description of genetic testing carried out for the patient); 2. Table with results of genetic analyses (genes, rs, genotype, etc); 3. List of practical recommendations regarding prevention of diseases to which genetic predisposition is revealed; 4. Scientific explanation of interpretation of genetic results: 4.1 Short description of all analyzed genes and their polymorphisms; 4.1 Short description of all analyzed genes and their polymorphisms; 4.2 Frequency of revealed genotypes in population; 4.2 Frequency of revealed genotypes in population; 4.3 Terminological dictionary; 4.3 Terminological dictionary; 4.4 References. 4.4 References. TEXT FILE WHICH CONSISTS : xGenCloud

EXAMPLE of INTERPRETATION (fragment of short description of gene) Cardiovascular system: F2 Gene F2 is localized on the 11 th chromosome (11p11-q12) and encodes factor of coagulation II – prothrombin. It is one of key factors of blood clotting. The most significant and discussed in literature polymorphism of DNA in F2 gene is G20210A. Polymorphism is situated in 3’ untranslated region of the gene and influences at mRNA level leading to increasing of prothrombin concentration in blood plasma. However among heterozygous carriers of risk allele prothrombin level varies very much, therefore simple quantitative analysis of this marker in blood can't be used for diagnostics of prothrombin thrombophilia. Result: Polymorphism G20210A is not found (genotype G/G). Frequency of allele 20210A in European population is ~3 %. Found genotype is prevailing in population. Prothrombin is one of the main components of coagulative system of blood. At the first stage of process of coagulation prothrombin turns in thrombin by photolytic cleavage and finally promotes formation of fibrin in blood clotting process. Presence of risk allele in F2 gene is characterized by increased level of prothrombin in blood and is associated with increased relative risk of development of thrombosis and as a consequence with increased risk of myocardial infarction and ischemic stroke. Conclusion: In gene F2 requied polymorphism which increases risk of thrombosis isn't found. xGenCloud

Authors and developers: Igor Ugarov, MD, PhD