WO2001050214A2

WO2001050214A2 - Methods for collecting genetic material

Info

Publication number: WO2001050214A2
Application number: PCT/EP2000/013355
Authority: WO
Inventors: Ivo Van Den Maagdenberg; Christophe Van Huffel
Original assignee: Starlab Nv/Sa
Priority date: 1999-12-30
Filing date: 2000-12-27
Publication date: 2001-07-12
Also published as: AU2370901A; WO2001050214A3

Abstract

A method and system for an information collector to collect information from information suppliers and provide an incentive for the information suppliers to provide the information is described. The method and system are suitable for gathering many types of information, and are particularly useful for gathering information that increases in value over time or at least has the potential to increasing in value over time. The method of the invention, which is typically implemented using a server computer system and a client computer system, entails rewarding each information supplier with an ownership share in value created by or associated with the information provided by the aggregate of information suppliers.

Description

METHODS FOR COLLECTING GENETIC MATERIAL

TECHNICAL FIELD

This invention relates to methods, e.g., computer-based methods, for collecting information and material. In particular, this invention relates to methods for collecting medical and genetic information and material.

BACKGROUND

There is a growing consensus in the scientific community that many diseases have a genetic basis and that the variation from individual to individual in the severity of a given disease can be explained, at least in part, by genetic variation. The 60,000- 140,000 genes of the human genome are distributed over 3 billion bases of DNA. The genome displays considerable diversity. Current information indicates that approximately 0.1% of the bases in the genome differ between any two individuals (i.e., are polymorphic). Thus, developing an understanding of the genetic basis of any given disease may require sequencing several genes in a large population of individuals. The identification of genes and gene sequences associated with particular diseases is the first step in the development of new diagnostic assays and new therapeutic regimes.

The collections of genetic material currently held by pharmaceutical companies and other entities are, for the most part, obtained from isolated or narrowly specified populations, e.g., a population of individuals afflicted with a particular disease and their blood relatives or a population of individuals in a selected community or ethnic group. Accordingly, current collections of genetic material are generally derived from populations where a large founder effect is expected. It is rather unlikely that such collections of genetic material are representative of the worldwide population of disease related genes. The analysis of collections of genetic material obtained from isolated populations has led to the identification of genes associated with several monogenic diseases. For example, researchers recently reported that mutations in a gene called AIRE are associated with autoimmune polyglandular syndrome type I (APS 1 ), a rare autosomal recessive disorder that maps to human chromosome 21. However, the vast majority of diseases are multigenic and complex. In order to understand the genetic basis for such diseases, genetic material from significant number of individuals from diverse populations must be collected and analyzed. The analysis of such genetic material can lead to the identification of genes and particular gene sequences associated with various diseases. Larger and more diverse collections of genetic material are useful in other ways. For example, it is now recognized that a patient's response to a given therapeutic regime is, to some extent, dependent on the patient's genetic make-up. Thus, it can be desirable to tailor a patient's therapy to their genetic make-up. Doing so requires identifying the variations in gene sequence that are associated with a particular response to a therapeutic regime.

Genetic information can be used to develop new diagnostic assays, new therapeutic regimes, and individually tailored therapeutic regimes. This genetics- based approach to disease diagnosis and treatment is widely expected to revolutionize health care. However, this genetic-based approach is likely to be fully realized only after sequencing significant portions of the genomes of a diverse population of individuals.

Thus, it can be seen that in order to develop a greater understanding of most diseases and to develop diagnostic assays and safe and effective therapies for diseases, it is important that genetic material be first collected from a diverse population of individuals. It is important that the collected genetic material be associated with information about the individual from which it has been collected. The associated information can include such basic information as the individual's age, gender, and place of residence. It can also include detailed medical information, both present and historical.

There is a vast private and public effort underway to sequence the entire human genome, but in the short term the DNA of only a few individuals will be sequenced. Currently, there is no repository of genetic material and medical information available that will allow the human genome to effectively be accessed as universal information resource. Providing such a repository is an important step in hastening the coming health care revolution. SUMMARY

The present invention provides a method and system for an information collector to collect information from information suppliers and to provide an incentive for the information suppliers to provide the information. The method and system are suitable for gathering many types of information, and are particularly useful for gathering information that increases in value over time or at least has the potential to increase in value over time. The method of the invention, which is typically implemented using a server computer system and a client computer system, entails rewarding each information supplier with an ownership share in value created by or associated with the information provided by the aggregate of information suppliers, e.g., by giving an information supplier with a ownership share or an option to purchase an ownership share in an entity having rights in the information provided by the information supplier. The system and method of the invention can be implemented using a computer system accessible for on-line interactive communication.

The method of the invention makes it feasible for an information collector to obtain a considerable amount of information at relatively little present cost. This is particularly valuable where the value of the information provided by each information supplier is, at the time it is collected, of little value or an indeterminate value, at least to the information collector. Of course, information that is of little value or indeterminate value to the information collector can be of value to the information supplier. The information supplier may require an incentive, e.g., a payment, to provide the information to the information collector. As a result of these factors, there can arise a disequilibrium between the value to the information collector of the information provided by an individual information supplier and the value to the information supplier of the information provided. This disequilibrium makes it difficult to set a payment for the information supplied by an individual information supplier that is acceptable to both the information collector and the information supplier. The methods of the invention address this problem by granting information suppliers an ownership share or an option on an ownership share in an entity having rights in the information collected. The methods of the invention are quite useful where an information supplier requires or prefers an incentive to incur the cost of providing the information. This cost might be, e.g., the time required to provide the information, the loss of privacy associated with providing the information, or the loss of the exclusive use of the information.

An information supplier that is rewarded with an ownership share or an option on an ownership share in an entity having rights in the information collected has an incentive to provide complete and accurate information. In addition, because the information supplier has an ownership share in an entity or body of information which may grow in value over time, the information supplier has an incentive to both remain in contact with the information collector and to provide additional information.

In the preferred methods of the invention, the incentive given to an information supplier in exchange for the information provided is akin to an ownership share or an option on an ownership share in an entity that possesses or has rights in the provided information. Since the entity will typically possess information from a large number of individual suppliers and because the value of the aggregate information can be much higher than the value of the information obtained from each individual supplier or even the sum of the values of the information obtained from each of the individual suppliers, an ownership share in the entity can be of significant value. In addition, because the value of certain types of information grows over time, the providing of information in exchange for an ownership share or an option on an ownership share in the aggregate information can be a form of investment.

In one embodiment, the method of the invention is used to obtain medical information and genetic material. The method can be implemented using a computer system that includes a server system and a client system. For example, the method can be implemented using interconnected computers that exchange information using services such as electronic mail or the World Wide Web ("WWW"). However, the method of the invention can be implement by any means of communication, e.g., by conventional mail or by telephone. In one embodiment, a client system displays a questionnaire designed to elicit identification information and medical information from an information supplier, eg., in the form of a Web page which is sent from a server system to a client system. The information supplier electronically completes or partially completes the questionnaire. The information is sent from the client system to the server system, where it is analyzed for sufficiency. The server system then issues an order to send a genetic material collection kit to the information supplier along with instructions for using the kit and returning the kit to an information collector. The server system also issues a unique identifier which can be used to a associate the genetic material with the identification and medical information provided by the information supplier. The "kit" can be sent electronically because it can be in the form of instructions for collecting and transmitting a biological sample containing DNA. The genetic material can be any suitable biological sample, e.g., a sample of hair, blood or saliva.

The methods of the invention are particularly adapted to collecting this type of information. Although it is possible to sequence part or all of the DNA recovered from a small biological sample, it is not presently cost effective to sequence significant portions of the DNA obtained from a large number of individuals. However, automated sequencing methods will rapidly reduce the cost of carrying out such sequencing. This reduction in cost will make it feasible to sequence significant portions of the DNA of numerous individuals. Thus, the value of a collection of genetic material (i.e., biological material containing DNA) will increase in value. The methods of the invention are useful for building a database of genetic material and rewarding the suppliers of the genetic material. In essence the suppliers of the genetic material and medical information, by exchanging the genetic material and medical information for a share in the value of the aggregate information, are each making an investment in the value of a genetic database that will, over time, become increasingly useful in medical research and thus, increasingly valuable. Thus, the invention features a method for obtaining genetic material from a plurality of individuals. The methods includes: (a) providing on-line access to a questionnaire comprising a plurality of questions; (b) providing on-line access to a genetic material collection kit request form; (c) allowing an individual to electronically complete the questionnaire; (d) allowing an individual to electronically complete the genetic material collection kit request from; (e) in response to completion the request form, providing each individual with: (1) a genetic material collection kit including instructions for providing a sample of genetic material from the individual and transmitting the provided sample to a collector of genetic material; and (2) a unique identifier which matches the sample of genetic material to the completed questionnaire; and (f) obtaining the transmitted genetic material provided by the individual, whereby genetic material is obtained from the plurality of individuals.

In a preferred embodiment, the method includes making a payment to the individual upon obtaining the transmitted genetic material. In various embodiments the payment can include an option to purchase an ownership share in an entity possessing the genetic material transmitted by the individual an ownership share in an entity possessing the genetic material provided by the individual, the payment to each individual comprising the plurality of individuals is the same, and the payment to at least a first individual in the plurality of individuals differs from the payment to a second individual in the plurality of individuals.

The details of one or more embodiments of the invention are set forth in the accompanying drawings and the description below. Other features, objects, and advantages of the invention will be apparent from the description and drawings, and from the claims.

DESCRIPTION OF DRAWINGS

Figure 1 illustrates a system for collecting genetic and medical information. Figure 2 illustrates a genetic material collection kit.

Figure 3 illustrates one embodiment of a hierarchical data entry form. Figure 4 illustrates one embodiment of a hierarchical data entry form with the Identification Information section expanded (shown in part only).

Figure 5 illustrates one embodiment of a hierarchical data entry form with the Medical History section expanded (shown in part only).

Like reference symbols in the various drawings indicate like elements.

DETAILED DESCRIPTION

The present invention provides a method and system for collecting information from information suppliers. The system of the present invention provides an incentive for information suppliers to provide complete and accurate information and is particularly useful for obtaining information that is, at the time it is collected, of low or indeterminate value. The system of the invention provides a cost-effective means for obtaining such information by exchanging the information for a payment that is linked, directly or indirectly, to either the value of the information provided by the information supplier or the aggregate value of the information provided by a plurality of information suppliers or both. This is accomplished, e.g., by granting information suppliers with an ownership share or an option on an ownership share in an entity having rights in the information collected or by granting information suppliers with an ownership share or an option on an ownership share in the mformation collected.

Because the value of certain types of information grows over time, the value of the payment made to information suppliers can increase over time as well. Because the value of the information obtained from an individual can increase as the total number of individuals providing information grows, the value of the payment made to an individual can grow as additional individual information suppliers provide information.

Figure 7 is a flow diagram illustrating an embodiment of the invention used to collect medical information and genetic material. In step 201, the information collector sends a medical questionnaire to a potential information supplier. This can be accomplished by causing a server computer system send a web page to a client computer system. In step 202 an information supplier completes the questionnaire, e.g., by completing data fields in web page sent to client computer system. In step 203 the information supplier returns the completed questionnaire to the information collector, e.g., by sending a electronic message to the server computer system. In step 204 the information collector sends a genetic sample collection kit to the information supplier. The kit can be used to collect any biological sample containing the information supplier's DNA. For example, the kit can be used to collect a sample of hair, a sample of blood, or a sample of saliva. In many embodiments the collection kit will be accompanied by instructions for collecting the sample. In addition to the genetic sample collection kit, the information supplier will be sent a unique identifier which is used to link the information provided in response to the questionnaire with the genetic material. Importantly, the genetic sample collection kit can be sent to the information supplier electronically, e.g., as a web page sent to a client server system. Such electronically transmitted kits are in the form of instructions for collecting a genetic sample. In step 205 the information supplier collects a genetic sample using the genetic sample kit. In step 206 the information supplier sends the collected genetic sample to the information collector. In step 207 the information collector issues a payment to the information supplier. This payment can include a share in or an option to purchase a share in an entity having rights in the information provided.

Figure 2 illustrates a simple genetic sample collection kit that can be electronically transmitted to an information supplier for collecting a sample of, e.g., saliva. The kit is a piece of paper 210 marked with a target 220 for spitting onto. The target 220 is sized such that when covered with saliva, sufficient DNA is deposited on the paper for extraction and sequencing. The piece of paper 210 can be folded along lines 230 to protect the sample. The piece of paper will also be marked with the unique identifier. The marked piece of paper can be created by the information supplier using instructions transmitted electronically or can be printed from a web page transmitted to a client computer system. The information supplier will be provided with instructions for collecting a saliva sample. For example, the supplier might be instructed to not collect the saliva sample immediately after food or beverage (other than water) intake. The supplier might be instructed to drink a glass of water, wait five minutes, place the collection paper on a flat surface, spit onto the paper so as to fill the target with saliva, allow the saliva to dry, fold the paper, and place the folded paper in an envelope and send it to a particular address.

The data entry for the medical questionnaire as implemented on a Web page can be in the form of a hierarchical data entry form. This type of form is useful where, as often the case, the entire questionnaire cannot fit on the user's display at one time without scrolling. When this happens, it can be difficult for the user to understand the nature and organization of the information to be entered. Moreover, completion of the questionnaire can appear to be a more difficult and time-consuming process than is actually the case. Figure 3 illustrates one embodiment of a hierarchical data entry form with various sections identified by their title: Identification Information 301, Medical History 302, Medical History of Relatives 303, Environmental Information 304. As shown in Figure 4, when the user selects the Identification Information section 301, that section expands to display data entry fields for basic identification information such as age 401, gender 402, height 403, weight 404, country of residence 405, country of birth 406, and e-mail address 407. In some cases reply buttons, e.g., for replying "yes" or "no" can be used in the place of a data entry field.

When the Identification Information section is expanded, the other sections remain unexpanded, yet visible in title form 302, 303, and 304. Once the user has completed one section, e.g., the Identification Information section, the user can click on the title of another section, e.g., the Medical History section 302. The selected section will expand and the other sections will be visible in title form 301, 302, and 304.

Figure 5 illustrates a portion of the display when the Medical History section 302 has been expanded. The Medical History section contains data entry fields for responding to inquiries about various medical conditions, e.g., speech impairment 501, hearing impairment 502, vision impairment 503, and diabetes 504. Reply buttons can replace the data entry fields, as shown. Of course, may more questions can be asked. Replies to some questions, or even all questions, can be optional.

A payment can be made to the information supplier once the information has been sent to the information collector. The payment can be in any form. The preferred payment is an ownership share or an option to purchase an ownership share in an entity possessing or having rights in the information collected. The value of the payment can vary. For example, an information supplier who provides very complete information could receive a payment that is greater than an information supplier who provides relatively incomplete information. For example an information supplier who provides relatively complete information could receive a lower cost option than an information supplier who provides less complete information. It might also be useful to vary the payment depending on the nature of the information provided. For example, in the context of medical information and genetic material, it might be relatively difficult to obtain information and material from individuals suffering from a relatively rare disease. As a result, the medical information and genetic material obtained from these individuals can be of relatively high value. Accordingly, an information supplier suffering from a rare disease could receive a greater payment than one who does not. It may also be desirable to make the size of the payment dependent on the timing of the receipt of the information provided by the information supplier. For example, in order to give information suppliers an incentive for providing information at an early time, the payment given in exchange for the information provided could decrease over time. In a variation on this approach, the payment made to an information supplier would vary depending on how many information suppliers have already provided information. For example, an information supplier who provides information after 10,000 other information suppliers have already provided information might receive a lesser payment than an information supplier who provides information after only 1,000 other information suppliers have provided information.

Some information providers may have privacy concerns and may prefer that the identification information (i.e., the information that could link the provider to the genetic material or to the medical information). Accordingly, the various databases can be maintained separately. In addition, a party that does not have access to the databases themselves could hold the identification codes which link identification information, medical information, and genetic material. Those skilled in the art will be aware of various methods that can be used to protect the privacy of information suppliers. A number of embodiments of the mvention have been described. Nevertheless, it will be understood that various modifications may be made without departing from the spirit and scope of the invention. Accordingly, other embodiments are within the scope of the following claims.

Claims

WHAT IS CLAIMED IS:

1. A method for obtaining genetic material from a plurality of individuals, comprising:

(a) providing access to a questionnaire comprising a plurality of questions;

(b) providing access to a genetic material collection kit request form; (c) allowing an individual to electronically complete the questionnaire;

(d) allowing an individual to electronically complete the genetic material collection kit request from;

(e) in response to completion the request form, providing each individual with: (1) a genetic material collection kit including instructions for providing a sample of genetic material from the individual and transmitting the provided sample to a collector of genetic material; and

(2) a unique identifier which matches the sample of genetic material to the completed questionnaire; (f) obtaining the transmitted genetic material provided by the individual, whereby genetic material is obtained from the plurality of individuals.

2. The method of claim 1 further comprising:

(g) making a payment to the individual upon obtaining the transmitted genetic material.

3. The method of claim 2 wherein the payment comprises an option to purchase an ownership share in an entity possessing the genetic material transmitted by the individual.

4. The method of claim 2 wherein the payment comprises an ownership share in an entity possessing the genetic material transmitted by the individual.

5. The method of claim 2 wherein the payment to each individual comprising the plurality of individuals is the same.

6. The method of claim 2 wherein the payment to at least a first individual in the plurality of individuals differs from the payment to a second individual in the plurality of individuals.