xxGenGenCloudCloud

Cloud service intended for automatic Cloud service intended for automatic interpretation of genetic tests results, allows interpretation of genetic tests results, allows to form detailed genetic conclusion.to form detailed genetic conclusion.

Authors and developersAuthors and developers:: Igor Ugarov Igor Ugarov, , MD, PhDMD, PhD ee--mail: mail: iugarov@yandex.ru

xxGenGenCloCloudud

Business model IBusiness model I

NEEDS OF CLIENTS WHICH WILL BE NEEDS OF CLIENTS WHICH WILL BE PROVIDED BY SERVICEPROVIDED BY SERVICE

1.1. Automatic formation of the individual list of necessary genetic Automatic formation of the individual list of necessary genetic analyses for the patient depended on his (her) phenotype, family analyses for the patient depended on his (her) phenotype, family history, drug consumption, and environmental factors. history, drug consumption, and environmental factors.

2.2. Automatic interpretation of genetic tests results and formation of Automatic interpretation of genetic tests results and formation of detailed genetic conclusion.detailed genetic conclusion.

xxGenGenCloCloudud

Business model IIBusiness model II

1.1. Increasing of sales volume of genetic analyses;Increasing of sales volume of genetic analyses;2.2. Decreasing of expenses for clinical geneticist in staff of clients Decreasing of expenses for clinical geneticist in staff of clients

business;business;3.3. Development of such modern and perspective field of knowledge as Development of such modern and perspective field of knowledge as

predictive (personalized) medicine allows clients business to remain predictive (personalized) medicine allows clients business to remain competitive;competitive;

4.4. Increasing of sales volume of all other services offered by medical Increasing of sales volume of all other services offered by medical center (medical consultations by doctors of various specialties, other center (medical consultations by doctors of various specialties, other laboratory tests, and instrument investigations) – this will be laboratory tests, and instrument investigations) – this will be provided by including special recommendations in every genetic provided by including special recommendations in every genetic conclusion for the purpose of prevention of this or that complex conclusion for the purpose of prevention of this or that complex disorder.disorder.

ADVANTAGES OF USING xGenCloud SERVICEADVANTAGES OF USING xGenCloud SERVICEFOR BUSINESS OF CLIENTSFOR BUSINESS OF CLIENTS::

xxGenGenCloCloudud

PRICE POLICY:PRICE POLICY:

Monthly feeMonthly fee11. . Payment for automatic formation of list of required genetic tests.Payment for automatic formation of list of required genetic tests.22. . Packages of certain number of interpretations of genetic tests Packages of certain number of interpretations of genetic tests

results.results.

It is also possible to pay for each interpretationIt is also possible to pay for each interpretation* * The price is depended on number of tested genes The price is depended on number of tested genes

(polymorphisms).(polymorphisms).

xxGenGenCloCloudud Business model IIIBusiness model III

SCENARIO OF SERVICE USING:SCENARIO OF SERVICE USING:

Medical consultation of patient by the doctor of certain medical center (hospital).Medical consultation of patient by the doctor of certain medical center (hospital).↓↓

Using service Using service xxGenGenCloudCloud during consultation the doctor gets individual list of genetic during consultation the doctor gets individual list of genetic tests (genes and polymorphisms) which should be done for the patient depending on tests (genes and polymorphisms) which should be done for the patient depending on

phenotype, family history, drug consumption, and environmental factors (all these phenotype, family history, drug consumption, and environmental factors (all these factors need to be entered into the software).factors need to be entered into the software).

↓According to the list of administered genetic tests patient sample is analyzed by any According to the list of administered genetic tests patient sample is analyzed by any

genetic laboratory.genetic laboratory.↓↓

After receiving genetic results the doctor enters results into the software After receiving genetic results the doctor enters results into the software xxGenGenCloudCloud and gets automatically generated detailed genetic conclusion which explains him and gets automatically generated detailed genetic conclusion which explains him what kind of genetic predisposition his patient has and what should be done to what kind of genetic predisposition his patient has and what should be done to

prevent the disease.prevent the disease.↓↓

Finally patient receives text file with genetic conclusion which includes individualized Finally patient receives text file with genetic conclusion which includes individualized recommendations regarding supervision and examination by certain doctors , also recommendations regarding supervision and examination by certain doctors , also

list of additional laboratory tests and instrument investigations which should be 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 carried out to decrease risk of the disease. As a result patient continues to attend

medical center (hospital) on regular basis.medical center (hospital) on regular basis.

xxGenGenCloCloudud

Business model IVBusiness model IV

POTENTIAL CLIENTS:POTENTIAL CLIENTS:- Genetics laboratoriesGenetics laboratories- Medical-genetic consultationsMedical-genetic consultations- Research institutesResearch institutes- Medical centers offering genetic testing:Medical centers offering genetic testing:Hospitals (centers) of reproductionHospitals (centers) of reproductionCenters of anti-age medicineCenters of anti-age medicineSanatoriumsSanatoriumsOther Other

The system is intended to help doctors of various specialties who The system is intended to help doctors of various specialties who consult patients with common disorders (multifactor diseases), allows consult patients with common disorders (multifactor diseases), allows to test patients for genetic predisposition correctly and to receive to test patients for genetic predisposition correctly and to receive automatically generated conclusion by results of genetic testing.automatically generated conclusion by results of genetic testing.

MARKETING STRATEGYMARKETING STRATEGYxxGenGenCloClo

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ADVANTAGESADVANTAGESBASIC ADVANTAGES OF BASIC ADVANTAGES OF xxGenGenCloud Cloud AGAINST COMPETITORSAGAINST COMPETITORS::

Complex data analysisComplex data analysis

Using of possible data maximumUsing of possible data maximum

The most extensive databaseThe most extensive database

Constant updating of the service Constant updating of the service

More thanMore than 10 10 years experience in the field of development years experience in the field of development of software for medical geneticsof software for medical genetics

More than 5 years experience in the field of predictive medicineMore than 5 years experience in the field of predictive medicine

The volume of interpretations is not limited (service can provide as much The volume of interpretations is not limited (service can provide as much interpretations as clients business needs)interpretations as clients business needs)

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- Catalog of signs includes 10 000 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 20000 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 IDESCRIPTION IxxGenGenCloClo

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Program based on platformProgram based on platform

xGen IDSxGen IDS

which is registered in the State register of which is registered in the State register of programsprograms

№№ 20086122602008612260

May 07,May 07, 2008 2008

DESCRIPTION IIDESCRIPTION IIxxGenGenCloClo

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EXAMPLES IEXAMPLES I

Examples of input of phenotype signs, family history, and Examples of input of phenotype signs, family history, and prescribed medicinesprescribed medicines

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Result of genes selectionResult of genes selectionin the form of list after entering certain parametersin the form of list after entering certain parameters

EXAMPLES IIEXAMPLES IIxxGenGenCloCloudud

Catalog of gene networks Catalog of gene networks (example of searching for gene network of an acute (example of searching for gene network of an acute

nonlymphocytic leukemia)nonlymphocytic leukemia)

EXAMPLES IIIEXAMPLES IIIxxGenGenCloCloudud

Catalog of genetic associationsCatalog of genetic associations

EXAMPLES IVEXAMPLES IVxxGenGenCloCloudud

AUTOMATICALLY GENERATED AUTOMATICALLY GENERATED GENETIC CONCLUSIONGENETIC CONCLUSION

1. 1. Introduction (short description of genetic testing carried out for Introduction (short description of genetic testing carried out for the patient)the patient); ;

2. 2. Table with results of genetic analyses (genes, rs, genotype, etc);Table with results of genetic analyses (genes, rs, genotype, etc);3. List of p3. List of practical recommendations regarding prevention of ractical recommendations regarding prevention of

diseases to which genetic predisposition is revealeddiseases to which genetic predisposition is revealed;;4. Scientific explanation of interpretation of genetic results:4. Scientific explanation of interpretation of genetic results: 4.1 S4.1 Short description of all analyzed genes and their hort description of all analyzed genes and their

polymorphismspolymorphisms;; 4.2 Frequency of revealed genotypes in population;4.2 Frequency of revealed genotypes in population; 4.34.3 Terminological dictionaryTerminological dictionary;; 4.4 References.4.4 References.

TEXT FILE WHICH CONSISTS TEXT FILE WHICH CONSISTS ::

xxGenGenCloCloudud

xxGenGenCloCloudud

EXAMPLE of INTERPRETATION EXAMPLE of INTERPRETATION (fragment of short description of gene)(fragment of short description of gene)

Cardiovascular system:F2Gene F2 is localized on the 11th 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.

xxGenGenCloCloudud

xxGenGenCloudCloudAuthors and developersAuthors and developers:: Igor Ugarov Igor Ugarov, , MD, PhDMD, PhD ee--mail: mail: iugarov@yandex.ru