Abstract:
A genomics home test kit has a sample container having two absorbent sample holding pads impregnated with chemicals to lyse cell membranes and immobilize nucleic acids, a pair of buccal cell sampling swabs and instructions for collecting, applying and submitting a patient&#39;s buccal cell sample for genomic analysis to customize a medical therapy. The first holding pad has a first indicia and the second holding pad has a second indicia. The first sampling swab has indicia linking the first sampling swab to the first holding pad. The second sampling swab has indicia linking the second sampling swab to the second holding pad.

Description:
BACKGROUND OF THE INVENTION  
         [0001]    1. Field of the Invention  
           [0002]    The present invention relates generally to medical diagnostic test kits.  
           [0003]    2. Description of the Prior Art  
           [0004]    Numerous medical test are commercially available for use in the home. Two illustrative examples include medical test kits that are used to discover an individual&#39;s blood sugar, i.e. glucose, level at a particular time, or an individual&#39;s hormone level at a particular time.  
           [0005]    The glucose test kit allows a diabetic to test his/her blood sugar and adjust his/her daily insulin dosages accordingly without consulting a doctor or other medical personnel. To initially learn to take blood and use a personal glucose test kit, a diabetic may get trained by a nurse or other medical personnel. Not all personal test kits require the taking of blood or other internal body fluid. For example, personal pregnancy test kits are commercially available that allows a woman, in the privacy of her own home, to test her urine for the presence of a pregnancy hormone, human chorionic gonadotropin.  
           [0006]    DNA test kits that are used to determine familial relationships are also commercially available. DNA test kits use DNA sequencing technology to determine the familial relationship of an individual. DNA sequencing is the determination of the order of nucleotides (the base sequence) that exists in a DNA molecule of an individual.  
           [0007]    As one example of DNA lineage testing, GeneTree™ offers DNA Personal Paternity Tests. DNA Personal Paternity Tests can be used in the home to statistically determine the likelihood of a particular man being a child&#39;s father. The GeneTree™ DNA Personal Paternity Tests utilize cheek cells collected with colored swabs where one color indicates an alleged father and a second color indicates the subject child. The colored swabs are placed in coordinating colored envelopes that match the color of the user&#39;s swab. The envelopes are then sent to a laboratory where genetic testing is performed according to standard procedures.  
           [0008]    Unfortunately, most medical test kits on the market today are used for determining events that have already occurred. These test kits determine the existence of a condition such as low blood sugar, pregnancy, etc., or to determine the statistical probability of a genetic link between two or more individuals.  
           [0009]    There exists today a problem with the system used for the development of new drugs and drug treatments. Currently, pharmaceutical companies are limited to developing drugs using a one-size-fits-all system. This system allows for the development of drugs to which the average patient will respond. Unfortunately, some patients have a severe negative reaction to a prescribed drug. In the industry, this is called an adverse drug reaction.  
           [0010]    A 1998 study of hospitalized patients published in the Journal of the American Medical Association reported that in 1994, adverse drug reactions accounted for more than 2.2 million serious cases and over 100,000 deaths. An adverse drug reaction is one of the leading causes of hospitalization and death in the United States. Currently, there is no simple way to determine if people will respond well, badly or not at all to a medication.  
           [0011]    With the advent of the Internet and the proliferation of medical-related information, patients are becoming more aware of the seriousness of adverse drug reactions. They may even know someone who has suffered such an event. Harvard Business School Professor Regina Herzlinger, writing in the July 2002 issue of the Harvard Business Review, reports that patients are demanding better, more tailored treatments. The article further notes that a report in the Journal of the American Medical Association showed that screening drugs against a person&#39;s genetic makeup could reduce many dangerous reactions. The AMA report revealed that more than half of the 27 drugs frequently cited for causing adverse reactions were linked to genetic variations in a patient&#39;s ability to metabolize the drugs.  
           [0012]    Therefore what is needed is a minimally-invasive test kit that can be used without the assistance of medical personnel. What is further needed is a test kit that can be used in the user&#39;s home while preventing contamination of the sample. What is also needed is a test kit that is used to predict a patient&#39;s potential of an adverse medical reaction to a particular drug treatment. What is even further needed is a test kit that is used to predict the efficacy of a particular medication within the user&#39;s body.  
         SUMMARY OF THE INVENTION  
         [0013]    It is an object of the present invention to provide a diagnostic genomics home test kit. It is also an object of the present invention to provide a simple genomics home test kit that can be utilized by any individual. It is further an object of the present invention to provide a minimally-invasive genomics home test kit that can be used without the assistance of medical personnel. It is an even further object of the present invention to provide a genomics home test kit that can be used in the user&#39;s home while preventing contamination of the sample. It is still a further object of the present invention to provide a genomics home test kit that will predict the likelihood of a patient&#39;s adverse medical reaction to a particular drug treatment. It is another object of the present invention to provide a genomics home test kit that will predict the efficacy of medications within the user&#39;s body. It is yet another object of the present invention to provide a genomics home test kit for determining the likelihood of potential liver dysfunction in individuals as well as cardiac toxicity, pulmonary toxicity and other organ toxicity.  
           [0014]    The present invention achieves these and other objectives by providing a personal genomics home test kit with a sample container comprising a hinged folder having a first and a second sample holding pad, a first and a second cell collection device corresponding to the first and second sample holding pads, and an instruction sheet. The genomics test kit may also include a desiccant pillow and an outer pouch sized to contain both the utilized sample container and desiccant pillow.  
           [0015]    The hinged folder of the sample container has a first surface with locations for the first and second sample holding pads, and a second surface that overlays the first surface. The sample holding pads of the sample container first surface are protected by the second surface. The sample container first surface has indicia markings below the first and second sample holding pads. The indicia markings indicate the proper location for placing a first and a second cell sample upon the appropriate sample holding pad. The first and second surfaces of the sample container are approximately of equal size.  
           [0016]    The second surface may have an extended portion, i.e. a securing tab, for securing the second surface to the first surface. The securing tab may either fold over a lower portion end of the first surface or may be inserted into a slit of the first surface below the first and second sample holding pads. The securing tab may also have a pressure-sensitive adhesive to secure the tab against the back side of the first surface of the sample container near the lower portion end of the first sample container surface below the first and second sample holding pads. Alternatively, the second surface may have a coating of a pressure-sensitive adhesive along a portion adjacent an edge of the second surface for adhering to the first surface.  
           [0017]    The sample holding pads on the first surface of the sample container are sized and shaped to allow enough quantity of cell sample to achieve accurate results for the desired pharmacogenomic use. In this instance, it is to determine the presence of risk markers in a person&#39;s DNA that predicts a high probability of possible liver dysfunction or other organ dysfunction leading to an adverse drug reaction. First and second sample holding pads may be any shape and may each be a different shape. The sample holding pads are absorbent and impregnated with chemicals to lyse cell membranes on contact, to immobilize and stabilize nucleic acids (DNA and RNA), and to inactivate bacteria and viruses. The sample holding pads allow biological cell samples to be collected, transported and stored at room temperature.  
           [0018]    The first and second cell collection devices specifically correspond to the first and second sample holding pads. The first and second cell collection devices are generally flat, elongated rectangular swabs composed of an inert, i.e. non-reactive, material that will not introduce contaminants onto the sample holding pad. The cell collection devices have indicia markings on both sides that indicate the correct location of finger placement to pick up and utilize the device, and the location of cell collection. The indicia for locating finger placement is important to prevent inadvertent sample contamination to the first and second cell collection locations on the cell collection device. Examples of contaminants that can damage the cell collection location include finger oils and dirt, hand soap and hand lotion residues, fingernail polishes and other cosmetic product residues commonly found on the fingers or on the hand of a home user. The cell collection locations of the cell collection devices may also contain outer protective wrappings to protect the cell collection locations from external contamination until the user understands the instructions and is ready to proceed with cell collection.  
           [0019]    The instruction sheet of the genomics home test kit may be either a separate sheet within the kit or may be an integral part of one of the surfaces of the sample container. For instance, the instructions may be printed on the outside surface of the foldable sample container. The instructions provide a sequence of detailed informative steps teaching the proper use of the genomics home test kit to achieve accurate results. For example, detailed information about the proper method of picking up the first cell collection device, obtaining a sample from the inside surface of a user&#39;s first cheek, placing the cell sample onto the indicia coordinated first holding pad of the sample container, and repeating the procedure for the same first cheek using the reverse side of the first collection device. Next, the previously described procedure is then followed for obtaining a sample for the inside surface of the user&#39;s second cheek using the second cell collection device and transferring the sample to the second holding pad of the sample container. Should a user be left-handed instead of right-handed, additional instruction about changes to the method of picking up and using a first and second cell collection device for use by a left-handed user are given. If the cell collection locations on the cell collection devices contain outer protective wrappings, the instruction sheet would also contain additional instructions about the proper time of removal and method of removal of the outer protective wrapping before cell collection. The additional instructions about the outer protective wrapping would be inserted at the appropriate location within the sequence of instructions.  
           [0020]    An outer pouch of the genomics test kit is sized to contain the sample container, which has coded indicia markings that indicate the identity of the user of the kit. The coded indicia markings may be used for several purposes such as, for example, maintaining user privacy, maintaining correct sample identity during preliminary sample preparation and analysis by the testing laboratory, and returning the specific genomic test results to the correct user.  
           [0021]    A desiccant pillow of the genomics test kit may be included to maintain a relatively dry atmosphere within the outer pouch. The desiccant pillow includes a material for absorbing excess moisture from the atmosphere in the pouch. This prevents moisture from adversely affecting the cell samples that are disposed onto the sample holding pads located inside the folded sample container.  
           [0022]    The genomics home test kit incorporates indicia to alert a user that the kit is used to identify risk markers for predicting the probability of an adverse drug reaction. Particularly, it is the risk markers associated with the cytochrome P450 enzyme family. The cytochrome P450 enzymes are used in the metabolic processing of medication. Cytochrome P450 enzymes include the CYP3A gene family and CYP2D6. Identification of a user&#39;s risk markers is important because adverse drug reactions can result in liver dysfunction in some individuals. The risk markers are identified by examination of an individual&#39;s structural genes. In addition to the examination of the structural gene, genotypic testing of the regulatory/promoter regions, certain transcription factors and the gene sequences important for correct splicing will be performed. By this examination, the risk of dangerously large changes in liver function will be determined. By knowing what risk markers are present, the genomic analysis can be correlated to an effective drug therapy that minimizes the potential for an adverse drug reaction.  
           [0023]    In order to maintain user privacy, a peelable label containing a tracking indicia is removably affixed to the back side of the sample container. The sample container also includes matching tracking indicia to that on the peelable label. Each genomics home test kit has a unique tracking indicia. 
       
    
    
     BRIEF DESCRIPTION OF THE DRAWINGS  
       [0024]    [0024]FIG. 1 is a perspective view of one embodiment of the present invention.  
         [0025]    [0025]FIG. 2 is a top plan view of another embodiment of the present invention.  
         [0026]    [0026]FIG. 3 is a top plan view of the present invention showing different shaped sample holding pads.  
         [0027]    [0027]FIG. 4 is a back plan view of the present invention showing the tracking indicia.  
         [0028]    [0028]FIGS. 5A and 5B are enlarged front plan views of the present invention showing the indicia on the buccal cell swabs. 
     
    
     DETAILED DESCRIPTION OF THE PREFERRED EMBODIMENT  
       [0029]    The preferred embodiment(s) of the present invention are illustrated in FIGS. 1-5. FIG. 1 illustrates front planar views of the genomics home test kit  10 . The genomics home test kit  10  is specific for determining the presence of adverse drug reaction risk markers in a user&#39;s DNA. Genomics home test kit  10  includes a sample container  20 , a pair of buccal cell swabs  30 , instruction sheet  40 , an outer pouch  50 , and a desiccant  60 . Sample container  20  includes a first sample holding pad  22  and a second sample holding pad  24 . Sample container  20  is generally a hinged folder having a creased fold  26 . Creased fold  26  divides sample container  20  into an upper portion  26   a  and a lower portion  26   b  of approximately equal size. Upper portion  26   a  has a securing tab  27  that may either fold over lower portion end  29  of lower portion  26   b  or inserted into a lower portion slit  29   a . Securing tab  27  may also have a pressure-sensitive adhesive  28  to secure tab  27  against the back side (not shown) of lower portion  26   b  near lower portion end  29 .  
         [0030]    Sample holding pads  22  and  24  are generally impregnated with chemicals to lyse cell membranes and immobilize nucleic acids. Buccal cell swabs  30  are used for obtaining a buccal cell sample. Typically, buccal cell swabs  30  are made of wood to scrape a sample of epithelial cells from the inside cheek of a user. It is particularly important to include indicia  32  on each of cell swabs  30  to prevent sample contamination and to increase the probability of proper user compliance. Swabs  30  include indicia  32  on each side of the swab. Indicia  32  link the test sample to be collected with the associated sample holding pad  22  or  24 .  
         [0031]    Instruction sheet  40  includes instructions  42  that provide a sequence of detailed informative steps instructing in the proper use of the test kit  10  to achieve accurate adverse drug reaction risk marker test results. The instructions include the use of linking indicia  32 ′ to guide the user in use of swabs  30  and proper sample collection and transfer techniques as well as disclosing the type of test kit, i.e. to identify in a person&#39;s DNA the presence of risk markers that increase the probability of a particular drug causing liver dysfunction and leading to an adverse drug reaction. Instructions  42  provide detailed information about picking up the first swab or cell collection device  30 , obtaining a sample from the inside surface of a user&#39;s first cheek and placing the obtained sample onto the proper holding pad  22 ,  24  as identified by the indicia  32  and  32 ′.  
         [0032]    Outer pouch  50  is a sealable container sized to receive sample container  20  for transfer to another location. Desiccant  60  is a standard moisture-absorbent pillow sized for placement within outer pouch  50  along with sample container  20 . Desiccant  60 , when placed within outer pouch  50  with sample container  20 , maintains a relatively dry atmosphere within outer pouch  50 . The desiccant material is typically a substance having a high affinity to water molecules that binds and holds the water molecules found in the atmosphere within outer pouch  50 .  
         [0033]    Turning now to FIG. 2, there is shown another embodiment of the sample container of the present invention. Sample container  80  includes a first sample holding pad  82  and a second sample holding pad  84 . Sample container  80  is generally a hinged folder having a creased fold  86 . Creased fold  86  divides sample container  80  into an upper portion  86   a  and a lower portion  86   b  of approximately equal size. Upper portion  86   a  has a securing tab  87  that may either fold over lower portion end  89  of lower portion  86   b  or inserted into a lower portion slit  89   a.    
         [0034]    In this embodiment, instructions  42  are imprinted on a second surface  86   a ′ of upper portion  86   a . Indicating indicia  92  and  94  links the sampling instructions  42  for first and second cheek samples with the properly identified first and second holding pads  82 ,  84 . Sample container  80  also has indicia  96  clearly identifying the adverse drug reaction risk marker kit.  
         [0035]    [0035]FIG. 3 shows yet another embodiment of the sample container of the present invention. Sample container  120  includes a first sample holding pad  122  and a second sample holding pad  124 . Sample container  120  is generally a hinged folder having a creased fold  126 . Creased fold  126  divides sample container  120  into an upper portion  126   a  and a lower portion  126   b  of approximately equal size. Upper portion  126   a  has a securing tab  127  that may either fold over lower portion end  129  of lower portion  126   b  or insert into a lower portion slit  129   a.    
         [0036]    Like the embodiment in FIG. 2, instructions  42  are imprinted on a second surface  126   a ′ of upper portion  126   a . Indicating indicia  132  and  134  may also connect the sampling instructions  42  for right and left cheek samples with the properly identified first and second holding pads  122 ,  124 . Additional linking indicia  135  may be used to further link relevant portions of instructions  42  to sample holding pads  122  and  124 . Sample container  120  also has indicia  136  clearly identifying the adverse drug reaction risk marker kit. Sample container  120  further includes a first holding pad  122  that has a different shape than second holding pad  124 . In this example, the first holding pad  122 , labeled Left Cheek, has a square shape. Second holding pad  124 , labeled Right Cheek, has a circular shape. This shape differentiating indicia  135  is also included on swabs  30 , which further helps the user in reducing contamination by visually connecting the additional indicating indicia to the swabs  30  for use with the proper holding pad  122  or  124 .  
         [0037]    [0037]FIG. 4 is a back view of sample container  20 . On a back surface  21 , there is imprinted indicia  96  to indicate the type of test, indicia  72  for tracking the sample, a mailing address of the place for analysis, and a removable, peel-off sticker  70 . Removable sticker  70  includes tracking indicia  72  for the user to obtain the results of the test while maintaining user privacy.  
         [0038]    [0038]FIGS. 5A and 5B illustrate the indicating indicia on swabs  30 . Turning now to FIG. 5A, right cheek swab  30 ′ has a first swab side  34  and a second swab side  36 . Swab sides  34 ,  36  have imprinted thereon adjacent a swab end  33 , indicia  32  indicating the sample holding pad associated with right cheek swab  30 ′. In this particular example both the shape and the word symbols indicate the proper sample holding pad for receiving the right cheek sample. In FIG. 5B, left cheek swab  30 ″ also has a first swab side  34 ′ and a second swab side  36 ′. Adjacent a swab end  33 ′, indicia  32  are imprinted to indicate the sample holding pad associated with left cheek swab  30 ″.  
         [0039]    To use the genomics home testing kit  10 , the user opens kit  10  and removes swabs  30  that have indicating indicia  32  on each side. In this case, indicating indicia  32  are “Right Cheek # 1 ,” “Right Cheek # 2 ,” “Left Cheek # 1 ,” and “Left Cheek # 2 .” The user takes swab  30  marked “Right Cheek # 1 ,” places the user&#39;s thumb over the words that say “Right Cheek # 1 ,” and puts the swab into the user&#39;s mouth placing the flat surface against the inside of the right cheek. The user then gently rubs the tip of the swab up and down five times with a motion of about one-half of an inch. This motion results in a few cells lining the inside of the right cheek to stick to swab  30 .  
         [0040]    The user removes swab  30  from the mouth and swirls the tip of swab  30  containing the cells about ten times onto the second holding pad  24  marked “Right Cheek.” Using the same swab  30 , the user is instructed to repeat the process by now placing the user&#39;s thumb over the words that say “Right Cheek # 2 .” After rubbing the tip of swab  30  against the inside of the right cheek, the user swirls the tip of swab  30  containing more cells about ten times onto the first holding pad  24 . This process is repeated for the left cheek using swab  30  marked “Left Cheek # 1 ” and “Left Cheek # 2 .” 
         [0041]    Upon completion of sample collection, the sample container  20  is sealed by folding upper portion  26   a  over lower portion  26   b  and securing upper portion  26   a  to lower portion  26   b  using securing tab  27 . The user then removes the peel off tracking number and retains it for reference purposes, and mails the sample container  20  to the indicated address for analysis.  
         [0042]    Although the preferred embodiments of the present invention have been described herein, the above description is merely illustrative. Further modification of the invention herein disclosed will occur to those skilled in the respective arts and all such modifications are deemed to be within the scope of the invention as defined by the appended claims.