CN106228017A - Medication management system based on genome - Google Patents

Medication management system based on genome Download PDF

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Publication number
CN106228017A
CN106228017A CN201610608613.2A CN201610608613A CN106228017A CN 106228017 A CN106228017 A CN 106228017A CN 201610608613 A CN201610608613 A CN 201610608613A CN 106228017 A CN106228017 A CN 106228017A
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human genome
management system
drug use
genome
drug
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詹姆士·普朗特
大卫·贝克
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PARSWAY GENOMICS Corp
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PARSWAY GENOMICS Corp
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Priority to CN201610608613.2A priority Critical patent/CN106228017A/en
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    • CCHEMISTRY; METALLURGY
    • C40COMBINATORIAL TECHNOLOGY
    • C40BCOMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B20/00Methods specially adapted for identifying library members
    • C40B20/04Identifying library members by means of a tag, label, or other readable or detectable entity associated with the library members, e.g. decoding processes

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  • Organic Chemistry (AREA)
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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
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  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

The present invention relates to medication management system based on genome.Medication management system based on member's genomic data is coupled with the external computer system cooperated by object server, and described object server exports result establishment for the drug use report automatically sent according to the data of member database.According to the rule of storage in rule base, query engine with identification and meets the condition specified to member's hereditary information testing results of storage.

Description

Medication management system based on genome
The application is filing date JIUYUE in 2009 30, Application No. 200910174594.7, invention entitled " based on The medication management system of genome " the divisional application of application.
Technical field
The present invention generally relates to the system based on genome of the automatization of drug use management, and specifically relate to And the genomic information of storage is performed computer-implemented rule to control the exploitation of medicine, to apply and use.
Background technology
Recently, patient's drug administration tamoxifen () more than 2 years, it is desirable to prevent breast carcinoma Recurrence.But a new test shows, due to her genetic constitution, she is had no benefit by this medicine.This test is at her This manually carried out under the most alert and the most resourceful and suggestion of the doctor that highly catches up with latest developments is the most common in average case.
This patient claims that it feels to defeat and cut out this medicine, and begins the evaluation at alternative medicine.She is taking always This medicine, until learning absolutely void later.
All too generally be not only present in these national thousands of names takes the women of tamoxifen to this situation In.For no other reason than that general doctor is unaware that contacting between medicine and any specific genetic constitution, and then common patient controls Treatment scheme does not include thinking over patient's genome, therefore unnecessarily uses medicine but to have no benefit with high cost Place.
Some expert may say whatsoever disease, and the people that about half is only taken by a lot of medicines is effective.This not only makes The annual medicine spending of about 300,000,000,000 dollars of this country is much wasted, and countless patient unnecessarily faces side effect. Therefore, many hope are placed in the prospect of " personalised drug ", and wherein genetic screening and other test can be that doctor provides more It is patients design treatment that many evidences are used for according to the genetic constitution of patient oneself, it is possible to improves nursing and also saves money.But, This Nursing Concept is not that common patient can touch, and the most current state-of-the-art therapy can not reach.Only in example In outer case, patient and the artificial customized heredity test of doctor thereof, and its result also can only be acquired relevant based on this doctor The degree of concrete knowledge of contact between medicine and genetic abnormality and used.Before below this paper teaching, never occurred Automated system according to individual's genome comparison drug use.
A lot of policy experts are appealing that the effectiveness of different therapy is compared in more research.One defect is these researchs Easily becoming " general-purpose good recipe ", the therapy won is recommended to everyone.Will including the personalised drug considering patient's genome It is determined by which kind of medicine and a certain specific genetic constitution is had optimum curative effect to overcome this defect, and non-hope benefit " commonly sick People " and continue in kind to treat everyone.
Such as, colon cancer drug Erbitux and Victibix (Vectibix) have the 40% of specific genetic mutation to tumor Patient is invalid.FDA (Food and Drug Adminstration) FDA has held a session discussing recently and whether has tackled patient and carry out reducing medicine The use of thing, the use of described medicine monthly spends 8000 to 10000 dollars.Even if the step for by FDA as policy in addition Adopt and recommend, it is still desirable to doctor manually performs almost to determine and low adopts rate.Patient-doctor cooperates with in treatment side Time needed for adopting in this way in case is considerable, and the case of doctor burden cannot coordinate this cooperation.Doctor must Enforceable preferred plan must be given in 15 minutes or shorter time and continue with next patient.
For considering the automated system of human genome doctor can be helped to determine, medicine American the most up to a million uses Blood thinners warfarin () optimal dose.These people annual there is ten hundreds of people because excess is used Internal hemorrhage that medicine causes or the thrombosis that underdosage causes and be in hospital.At present, doctor can not distribute time enough to check appearance The genetic marker easily differentiated, the prompting of this genetic marker uses warfarin abnormally dangerous.Result patient is in default of implementing this Step and not the automated system of extra consumption doctor time and dead.
Tamoxifen shows the prospect and current defect that artificial genetic tests.In 2003, tamoxifen was used After 25 years, the research worker of Indiana University's medical college finds that tamoxifen is converted into by human body and is referred to as The another kind of material of endoxifen.Actually endoxifen has played anticancer function.This conversion is referred to as by human body The enzyme of CYP2D6 or referred to as 2D6 completes.But the variation of people's 2D6 gene means that this enzyme has the activity of varying level.Depend on Rely, in its group, the at most people up to 7%, there is inactive enzyme, and the people of other 20% to 40% only has moderate activity Enzyme.Consequence is serious.A lot of women obviously could not avoid the recurrence of cancer, because tamoxifen can not be converted to by they endoxifen.But, by the drug use system based on genome of automatization, people can greatly improve medication application, and Cuing down expenses, described system can process the heredity change of described dependency and multiple dependence by the algorithm of exploitation meticulously simultaneously Different.
Imitation medicine tamoxifen only spends 500 dollars in treatment in common 5 years.But major part American patients make at present A lot of Drug therapy that update by a class, expensive, described medicine is referred to as aromatase inhibitor, and it spent greatly within 5 years About 18,000 dollars.Before the effect of 2D6 is construed broadly, such medicine shows in clinical trial and is better than tamoxifen. If only assessing the women of active 2D6, tamoxifen may be identical with this efficacy of new drug or more excellent.But due to basis The genomic data of each patient manages so application of described medicine and excessively bothers for doctor, and we only have his Moses The fragrant effectiveness information for the general public, and do not account for hereditary variation.
Summary of the invention
Now, medication management system based on genome, described system have been invented in James's Prandtl and David Bake System include for by the Logic application of the storage set to member's genomic data with control drug development, apply, prescribe, The equipment managed and control and method.The major function of these systems is to provide the medicine automatically made decision according to a human genome Property management reason system.Being contrasted with the method and apparatus of prior art, the system that the present invention provides first is considering medicine The guess of high level overview is not relied on during the application of therapy.Can find the present invention's when considering it to the dependence of individual human genome The basic distinction of other management systems of automatization's medication management and this area.Therefore, the medication management of these systems is height Personalized, and well-designed specifically for individual according to individual inheritance's composition.
The application provides drug use based on human genome management system, comprising: genome scanning instrument;Member's number According to storehouse;Analyzing module, it includes storing well-regulated rule base;And object server, wherein, described genome scanning instrument is set It is set to read the genetic sequence feature of mankind member DNA the numeral of the individual human genome to the output generation of described member database Changing and represent, described member database is configured to receive and store the digitized representations of described human genome, and makes described meeting Member is associated with the digitized representations of this human genome, and described analysis module is connected with described member database, is configured to Based on the described member database of one or more inquiries in described rule, and produce and the one or many in described rule The response that individual defined situation adapts, described object server is configured to receive described response and this response be processed into " object ", then " object " will should be sent to the computer system of cooperation in order to improve the drug use strategy of described member.? In one embodiment, described analysis module also includes query engine and results processor, and this query engine carries out described inquiry, And the result set of generation is transported to this results processor, this results processor produces described and in described rule one Or the response that situation defined in multiple adapts.
In one embodiment, described genome scanning instrument has receiving port, and it receives described mankind member DNA.
In one embodiment, the genetic sequence feature of described DNA includes gene, allele, polymorphism, copy number Deng.
In one embodiment, described member database can also store the out of Memory of described member.A reality Executing in scheme, other information described include contact and address information, medical history, life style type, family history etc..
In one embodiment, described response is therapeutic scheme, drug prescription or medicine conflict definitions etc..
In one embodiment, the computer system of described cooperation is pharmacy, doctor's office, drug manufacturer research The calculating system used in laboratory etc..
Goal of the invention
The main object of the present invention is to provide the automatization's medication management system depending on a human genome.
Another object of the present invention is to provide medication management by registration/member's scheme, a human genome in the program Stored and constituted the basis that drug use determines.
Further objective is that and the automated system that couples with doctor's office, pharmacy and drug manufacturer is provided, with Drug use and exploitation aspect improve the management of medicine.
By the present invention can be better understood with reference to the detailed description of preferred embodiment and reference accompanying drawing.Herein The embodiment presented is to realize the concrete grammar of the present invention, but does not include all possible method.Accordingly, it is possible to there is some Embodiment, it is without departing from the spirit and scope of the invention as set forth in appended claims, but not at this Literary composition occurs with specific embodiment.It should be understood that substantial amounts of replacement scheme is possible.
Accompanying drawing explanation
The various features of the present invention, side will be better understood when by following description, appended claims and accompanying drawing Face and advantage, wherein Fig. 1 is the overall structure figure of a kind of exemplary scenario according to these systems instructed.
Specific term table
Refer to some term in present invention full text, the definition in this article of these terms may be with it at common dictionary In definition identical or incomplete same.For providing public information more accurately, provide following art for purposes of clarity Language defines, so that real range and scope are easier to understand.Although try one's best to reach accurate and comprehensive, but must It is understood that all implications not associated with each term can be fully elucidated.Therefore, each term expection also include its from The conventional implication derived in the common usage of correlative technology field or dictionary meanings.If definition provided herein and dictionary or Definition in technical field conflicts mutually, it is necessary to consider use environment and freer and judge to obtain intended implication.For comprehensively Understand the full depth of described teaching and understand all intended changes, answering the term meaning used by careful attention to expand and produce Error.
" individual human genome "
" individual human genome " refers to the whole or one part of the DNA of any concrete individual.
Detailed description of the invention
With reference to accompanying drawing, specially Fig. 1, it is a kind of example side of these drug uses based on genome management system 1 The overall structure figure of case.The general public can participate in becoming by submitting to DNA sample 2 to process for genome scanning instrument 3 voluntarily System member.Receive DNA at receiving port 4 and at this, it carried out chemistry and electrooptics process with the genetic sequence reading this DNA Feature, including such as gene, allele, polymorphism, " copy number " etc..This genome scanning instrument is output as a people's gene The digitized representations of group.Although this possible and incomplete genome sequence in some cases, but modern system can be constructed Becoming to read 10,000,000 features in single cheap processing procedure easily, therefore the genome of system member can show as Millions of genome sequence of subsets.
The output of genome scanning instrument is coupled with member database 5 carefully.Build data base so that it is there is support and deposit The structure of member's genome that storage is a large amount of unique and structure and setting genome being identified according to its belonging member. Therefore, database scheme is built to strengthen member and the genome received from genome scanning instrument by unique identifier index Digitized representations between one-to-one relationship.It addition, this data base can store the related data of member further, such as, join System and address information, medical history, life style type, family history etc..In some scheme, most important address information includes electricity Sub-addresses of items of mail, this address can realize specific function disclosed below.It will be appreciated that the knot of under any circumstance this member database Structure is all configured to reliably single genome and single member connected and keep the association between them.Pass through This mode, drug use function as herein described is directed to suitable individual.
By building data base in the manner described above, the analysis module 6 of these drug uses based on genome management system Also member database it is connected to.Analyzing the module composition basic framework of this system, described module mainly comprises rule base 7 and looks into Ask engine 8 and results processor 9.
Rule base contains the logic of storage, and this logical constitution uses program with Drug therapy and other medicines and asks Inscribe relevant rule and parser.These rules and parser can be worked out according to aims of systems in advance, and can enter further Row updates and often debugging.They can often be updated and debug, and this rule base is suitable for accommodating more rule, because They may be exploited for recent studies on.Rule can be created as make it depend on, and the heredity that can find in human genome is special Levy.In simplest example, rule can be created as considering depositing of specific single nucleotide polymorphism (SNP) in genome ?.Owing to drug use program can be depending on the mark found in a human genome, the presence or absence of certain known SNP can be used for Adjustment drug use is treated.The compound rule of higher level is likely to be dependent on multiple different characteristics of genome.Such as, can be by certain Specific rules is built into the two or more features representing digitized genome and carries out Boolean logic operation to find that certain has The existence of body SNP and copy number (occurrence number) thereof.Multiple rule can be worked out and as the storage code in rule base to accommodate The unlimited possibility of the feature that can find in genome.In some concrete scheme, the family history of member and medical history are as meeting The part preservation of member's record, it is possible to additional designs compound rule is so that it depends on those data.In this case, data base Pattern includes accommodating discrete family history data and the structure of discrete lifestyle data, such as, accommodate by certain way and make institute State data to be sorted by electronics, index and search for.Rule according to these data organizations is produced according to genetic data further Give birth to other drug use plan.Therefore, can set completely rule to retrieve member and record and identify all meet following The member of condition: 1) " once heart attack " (medical history);And 2) " being smoker now " (life style);And 3) " have with The SNP that heart disease is associated ".Such rule to be compiled into the form of computer code and can be stored in rule base as function In.
In rule base, the rule of storage constitutes the basis of query engine inquiry member database.Query engine is according to data base Program and function management computer can perform to inquire about the formation of 10, so that these inquiries can be fixed to the data of storage in data base Phase is run to produce result output 11.Result output can include the subset of the data of storage in member database.Such as, design is used The basis that SQL " selects " to inquire about may be constituted, such as in the rule selecting all members with celiac disease genetic predisposition:
" SELECT* [members] WHERE [HLADQ2] OR [HLADQ8]=TRUE "
(note: " selecting * [member] as [HLADQ2] or [HLADQ8]=true ")
" HLADQ2 " and the genetic marker that " HLADQ8 " is the genetic marker of celiac disease, i.e. celiac disease exist and those members Have because celiac disease suffers from the risk of complication.Member database can be run inquiry and have this sufferer disease to identify by query engine The member of tendency.Inquiry can run once, according to periodically planning periodic operation or being set as according to instruction operation.
It addition, query engine supports specific event such as " recruit " event.When a recruit adds fashionable, to this new meeting It is useful that member's genome runs whole inquiry combinations.Therefore, query engine being arranged to responds recruit and adds data base And run special query statement.
As the response to performed inquiry, produce result set and send it to result treatment module.This result set Comprise all " Search Results (hits) " or there is the member of the data matched with the ad hoc rule being run.This result treatment Module produce with described rule defined in the response that adapts of situation, and it can be to be found to have defined in rule Each member of inherited character ad hoc produces response;And this response can be according to being stored as the details of files on each of customers and to often Individual is different.
In first illustrative embodiment, result treatment module can produce therapeutic scheme, for example, has and implies certain The individual of the genome planting specified disease tendency produces therapeutic scheme.
In view of the false information found in member's heredity archives, it is possible to provide drug use prescription or therapeutic scheme.This includes It is more suitable for the combination of the medicine of the special characteristic of hereditary archives paid close attention to.The therapeutic scheme output of these systems can be passed Deliver to the office of doctor, further to be checked according to the normal processes of doctor's operation and to consider.
Result treatment module can receive performing the response of result set that inquiry is obtained, so that obtain can be at concrete medicine One group of member of Fang Shouyi.Such as, include using acetylcholine esterase to press down for alleviating early senile dementia offer in results processor Preparation medicine: donepezil (aricept), galantamine (Razadyne) or the therapeutic scheme of rivastigmine (Exelone) Time, the member of genome hint senile dementia will be benefited.
In this embodiment, it is possible to provide include the report of individual's name and address, these people have and suffer from certain disease more It is inclined to greatly but there is no any symptom.This report can transmit market service company, and these companies can provide education material and nursing After being proposed to, most probable needs the people of these data.Although the management information sending senile dementia to the general public is poor efficiency Rate, but provide these materials by much effective to the people with the genetic predisposition suffering from this disease.In some scheme, to knowledge The one group of member not going out to benefit from certain medicine responds and the report output that produces is sent to drug manufacturer, with It is made can preferably to arrange drug packages, market and for promoting the advertising campaign of this drug use.
It addition, result treatment module can receive result set and work out grinding about research work and drug use statistical data Study carefully the reference report of set, such as, consult for member.
The interesting member further appreciating that medicine that they are currently in use can receive this scheme warp according to the present invention The report often updated.Therefore, after member database is performed inquiry, object server can provide the data bag of research work to Member maximally related with this data.
Object server is configured to preparation and transmits polytype telecommunications " object ", and described telecommunications is " right As " carry the hereditary information of payload and comprise additionally in the target machine of cooperation or the management operation of computer system.Such as, Response can be compiled into " com object " by object server, and it can be such as based on Windows operating system at multipad Program uses.Or, " Web object " can be processed into XML (extensible markup language) bag, and it can be in general-purpose web browser System uses.It addition, drug use report and Informational Expression can be POJO or claim " at the beginning of simply by some scheme of these systems Beginning Java object ", its with can run the computer system interface of Java and easily be used by this system.In other scheme, can Report can be bundled in " Email " system and is sent to the email client such as related side's of concern side In " Outlook ".In some concrete scheme, drug use output report can be built into short message by object server and pass through Telephone number is sent to intended recipient.Object server can be arranged through compatible with Twitter platform and pattern " tweet " information of 140 characters sends drug use information.In further important aspect, object server can be by medicine Thing use Report workout becomes to include that the computer documents of the Flash type of high functionality action script is running Run on the computer platform of FlashPlayer.In this way, object server is treated by various forms of electronic medicaments Method couples well with a lot of recipients.
Object server 12 provides to receive information from results processor, such as a part for original computer system Therapeutic scheme, drug prescription or medicine conflict definitions etc., and use OOP (object-oriented programming) model by this information It is processed into " object ", and presents its state according to the output of results processor.Then this object is sent to by this object server The computer system of cooperation, such as, be provided in pharmacy 13, doctor's office 14, the computer of drug manufacturer research laboratory 17 System, this object can be used to improve drug use strategy in a certain way in such systems.In this way, these Automatization's drug use system is suitable for and multiple computer platform and the communication of purpose and interface.
In above-mentioned most important embodiment, it is equipped with the pharmacy of highly advanced medicine conflict system further from information Reception in be benefited because this information relates to the genome of concrete patient.It is to say, nowadays pharmacy is equipped with automated computer System checks the drug use of certain concrete patient and determines whether two kinds of different medicines of use exist any conflict simultaneously.But It is these systems when carrying out medicine conflict and checking it is not intended that the genetic constitution of patient.According to system as herein described, it is equipped with The pharmacy of this system may call for the information of a certain patient, and receives drug use conflict based on hereditary information report, and does not connects Receive the sensitive genomic data of this patient.Results processor is produced medicine conflict definitions and this is determined by object server Justice is sent on pharmacy's computer the special-purpose software run.
Similarly, in second important embodiment, these systems can be soft with what doctor used in its office 14 Part couples.Couple the computer system 15 equipped with a certain priori interface 16 well to receive treatment from object server Solution object.The stand alone software of doctor's private office can use this object, this object based on but may not include complete Heredity is open.The doctor running suitable computer software can get building of the therapeutic scheme according to patient's genome design Doctor is without becoming pharmacogenetic scholar for view, but can constantly obtain renewal by the rule base being continually changing.
In the 3rd important embodiment, drug manufacturer can receive general according to occur in drug use person's genome Pharmaceutical properties data all over feature edit.If pharmaceutical properties research includes being equipped with receives connecing of information by object server The computer system of mouth, then they can more accurately determine problem, subject under discussion, beyond thought benefit etc., and wherein said object takes Business device is through being specifically designed to provide hereditism the pharmaceutical properties data being correlated with to drug manufacturer.It addition, drug manufacturer energy Enough providing feedback 22, it can be used for adjusting further and debugging rule base.New regulation or to the most well-regulated amendment all Can improve whole system, when the definition improved in rule-based storehouse, following inquiry can produce result set more accurately.
Further, drug manufacturer can receive special object, this object be set to carry important inherited characteristic or " group " of abnormal individual.The group belonging to the other individual of identical hereditary class may be preferable to guiding marketing activity, its Can make marketing activity inform more accurately people exist can make its be benefited medicine.Group's object can comprise potential drug benefit Person's list and suitably contact details, such marketing activity may be designed as contacting these most effectively and has appointment inherited characteristic Individual.
Each preferred embodiment according to the present invention, it is provided that based on genetic medication management.Should be appreciated that described Each embodiment includes that the device in device, and a kind of preferred embodiment likely differs from another embodiment Device.Correspondingly, a part for another embodiment should not inherited and be simply assumed to be to the restriction mentioned in one embodiment.
Above example relates to specific embodiment, and these embodiments show the excellent of apparatus and method of the present invention Select scheme.For the sake of completeness, the step that the element comprised about device and device and method and method are comprised is more Comprehensively explanation is by presented below.
Can know well how now to realize the drug use management system of automatization of individual genomic data based on storage System.Although the present invention is described in considerable detail with clear and clear and simple language, and with reference to the present invention some Preferred version, including optimal mode expected from inventor, but other scheme is possible.Therefore, the spirit and scope of the present invention It is not limited to the description of scheme preferred herein, but should be limited to the claims by the appended claims herein.

Claims (8)

1. drug use based on human genome management system, comprising:
Genome scanning instrument;
Member database;
Analyzing module, it includes storing well-regulated rule base;With
Object server,
Wherein, described genome scanning instrument is configured to read the genetic sequence feature of mankind member DNA and to described member's number According to the digitized representations of the individual human genome that storehouse output produces,
Described member database is configured to receive and store the digitized representations of described human genome, and make described member with The digitized representations of this human genome is associated,
Described analysis module is connected with described member database, is configured to based on the one or more inquiry institutes in described rule State member database, and produce with the one or more in described rule defined in the response that adapts of situation,
Described object server is configured to receive described response and this response be processed into " object ", then should " object " pass Deliver to the computer system of cooperation in order to improve the drug use strategy of described member.
2. drug use based on human genome management system as claimed in claim 1, wherein said analysis module is also wrapped Including query engine and results processor, this query engine carries out described inquiry, and is transported at this result by the result set of generation Manage device, the sound that situation defined in the one or more described in the generation of this results processor and in described rule adapts Should.
3. drug use based on human genome management system as claimed in claim 1 or 2, wherein said genome scanning Instrument has receiving port, and it receives described mankind member DNA.
4. drug use based on human genome management system as claimed in claim 1 or 2, the heredity of wherein said DNA Sequence signature includes gene, allele, polymorphism, copy number etc..
5. drug use based on human genome management system as claimed in claim 1 or 2, wherein said member database The out of Memory of described member can also be stored.
6. drug use based on human genome management system as claimed in claim 5, other information wherein said include Contact and address information, medical history, life style type, family history etc..
7. drug use based on human genome management system as claimed in claim 1 or 2, wherein said response is treatment Scheme, drug prescription or medicine conflict definitions etc..
8. drug use based on human genome management system as claimed in claim 1 or 2, the calculating of wherein said cooperation Machine system is the calculating system used in pharmacy, doctor's office, drug manufacturer research laboratory etc..
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