Abstract:
The present invention is directed to a method of increasing the speed at which diagnostic DNA test results are provided and a kit to streamline the process and paperwork of the method. The kit includes all of the components required by the diagnostic DNA testing lab in order for them to perform the diagnostic DNA test.

Description:
CROSS-REFERENCE TO RELATED APPLICATIONS 
       [0001]    This application claims the benefit of, and incorporates by reference, U.S. Provisional Application No. 62/333,307, filed May 9, 2016. 
     
    
     FIELD OF INVENTION 
       [0002]    This invention is directed to a method of increasing the efficiency and decreasing the speed at which diagnostic DNA test results are provided and a kit to streamline the process and paperwork of same. 
       BACKGROUND OF INVENTION 
       [0003]    Malignant hyperthermia (“MH”) is a rare, but life-threatening, disease that is triggered by certain anesthetic drugs (or triggering agents), including succinylcholine and general anesthetics. An episode of malignant hyperthermia may include some or all of the following symptoms: a fast rise in body temperature (105° F. or higher), severe muscle contractions, bleeding, tachycardia, hyperthermia, acidosis, dark brown urine, muscle ache, muscle rigidity, and muscle stiffness. 
         [0004]    MH is not particularly common, occurring in 1 in 5,000-50,000 instances in which individuals are given a triggering agent. Triggering agents include: inhaled general anesthetics; desflurane; enflurane; ether; halothane; isoflurane; methoxyflurane; sevoflurane; and succinylcholine. Nonetheless, MH is particularly problematic because in many cases it isn&#39;t diagnosed until the patient has had an MH episode as the result of exposure to one of the trigger agents during anesthesia. After a presumed episode of MH, it is very important to confirm that the patient actually does have MH. 
         [0005]    Most people with MH are not aware that they have the disease. Because most patients don&#39;t know they have MH, an anesthesiologist will only learn that a patient has the disease when an MH episode occurs as a result of exposing the patient to one of the triggering agents. As can be imagined, it is beneficial for the anesthesiologist and the patient to know about the presence of MH in advance through a diagnostic test. If the patient has MH, he or she can wear a medic alert bracelet so that the anesthesiologist can avoid using triggering agents during anesthesia. Moreover, because MH is hereditary, this information is helpful for the patient&#39;s family members. If the patient&#39;s family members learn that the patient has MH, then they know there is a chance that they also have MH and they can also get tested for the presence of MH. 
         [0006]    Currently, the process of diagnosing MH is inefficient. As a result, there is a significant delay between the time of obtaining the sample from the patient and diagnosis of the disease. This is because of the piecemeal steps and paperwork required by the testing lab. To begin the testing process, the physician or hospital fills out a paper form with information, sends it to the lab, then the lab responds by requiring another paper form with additional information. The extensive back and forth between the physician or hospital and the lab becomes burdensome and very time consuming and causes a lot of delays. 
         [0007]    Diagnosis of MH requires either a muscle biopsy or a DNA sample. In the case of the muscle biopsy, the test performed is called contracture. For this test, a 3-5 cm long and 1-1.5 cm in diameter muscle sample is taken from the patient on an outpatient basis. The muscle sample is then exposed to halothane (a known triggering agent for MH). If the muscle is susceptible to MH, then it will contract more frequently than an unsusceptible muscle and will develop a sustained force generation known as a contracture. This type of test is approximately 95% accurate for diagnosing MH. Because taking a muscle biopsy from a patient is uncomfortable and invasive, other diagnostic tests have been developed, in particular, DNA testing for genetic markers of MH. 
         [0008]    In the case of a DNA sample, genetic testing is used to ascertain whether the person has the genetic markers that indicate the presence of MH. MH is inherited as an autosomally dominant trait with variable expression and incomplete penetrance. Recently, a mutation in the RYR1 gene has been identified as contributing to the presence of MH. Additionally, other gene markers are being identified and in the future these markers may be used to diagnose MH. Thus, MH is a genetically diagnosable disease. 
         [0009]    When an MH episode occurs after patient exposure to a triggering agent, an emergency situation develops. As mentioned above, an MH episode is life threatening. Thus, the response needs to be immediate. A drug called dantrolene is administered to the patient to counter the MH symptoms. MH episodes involve an increased release of calcium in the system, which causes a rise in body temperature and rigidity of muscles. The dantrolene blocks the calcium from being further released and ultimately drops the patient&#39;s temperature and relaxes the muscles. During an MH crisis, the patient&#39;s blood chemistry is constantly monitored. 
         [0010]    In some cases, there are other events that look like an MH episode, including a sepsis reaction or an overdose of illicit drugs such as amphetamines. Dantrolene will help in these cases as well, but ultimately, these other events require different medical responses and it is important to ascertain whether the event was actually an MH episode or something else. This is the case because of the heritability of MH as discussed above. It is important for the patient&#39;s family to know whether they should be tested for MH or not. 
         [0011]    At the time of a presumed MH episode, a doctor will want to take a DNA sample and send it to the lab for genetic testing. As mentioned above, it is important to know whether the episode was an MH episode or something else because if the genetic markers are present in that patient, the patient&#39;s family can also be tested and if those individuals also have MH genetic markers, they can start wearing a medic alert bracelet so that a physician will know to avoid the triggering agents when treating that patient. The triggering agents are very efficient and effective, but there are alternatives available. 
         [0012]    Currently, there is a huge time delay from the time of the MH episode to the actual DNA testing and test results. This is due to all of the piecemeal steps and paperwork involved in genetic MH testing. Much of the paperwork involves back and forth between the doctor or office and the testing lab. 
       SUMMARY OF THE INVENTION 
       [0013]    Accordingly, it is the objective of this invention to streamline the process and paperwork for obtaining a positive or negative MH diagnosis by providing a kit that can be used to significantly reduce the amount of time required for obtaining a diagnostic DNA test result. As mentioned above, when a presumed MH episode occurs, the physician can obtain a sample and use the kit of the present disclosure to assemble everything that is required by the testing lab. 
         [0014]    The problem of delay and inefficiency in diagnostic DNA testing is solved by streamlining the process and paperwork required by the lab for DNA testing. 
     
    
     
       BRIEF DESCRIPTION OF THE DRAWINGS 
         [0015]      FIG. 1  depicts a kit of the present disclosure. 
       
    
    
     DETAILED DESCRIPTION OF THE INVENTION 
     Parts List 
       [0000]    
       
         
           
             Kit  10   
             Box  12   
             Cover  14   
             Box Seal  15   
             Pocket  16   
             Sides  18   
             Bottom  20   
             Foam padding  22   
             Indentations  24   
             Collection Vessel  26   
             Collection Vessel Fill Line  26   a    
             Collection Vessel Seal  27   
             Paperwork  28   
             Instruction Sheet  30   
             Envelope  32   
             Patient Information Form  34   
             Completed Patient Information Form  34   a    
             Informed Consent Form  36   
             Completed Informed Consent Form  36   a    
             Sticker  38   
             Address Label  40   
             Postage Label  41   
             Medical History Form  42   
             Completed Medical History Form  42   a    
             Waiver Form  44   
             Completed Waiver Form  44   a    
             Requisition Form  46   
             Completed Requisition Form  46   a    
             Return Box seal  48   
           
         
       
     
         [0045]    One method of streamlining the process and paperwork for obtaining diagnostic DNA testing results, includes the step of providing an easily accessible kit  10  for a physician to utilize at the location of obtaining a blood sample, saliva sample, or another DNA sample. In particular, this kit  10  can be easily accessible during administration of an MH triggering agent in the event that an MH episode occurs. If a suspected MH episode occurs, then the physician can use the kit  10  immediately to obtain a blood or saliva sample for purposes of diagnostic DNA testing to determine whether the patient has MH. Of note, the kit  10  includes a box  12  for containing all of the items necessary to send to the genetic testing laboratory. 
         [0046]    Turning now to  FIG. 1 , a kit  10  of the present disclosure is depicted, wherein the kit  10  includes a box  12  having a cover  14 , wherein the cover  14  has a box seal  15  used to seal the box  12  before it is used. The cover  14  also contains a pocket  16 . The box  12  also has sides  18  and a bottom  20 , wherein the bottom  20  and sides  18  contain foam padding  22 , wherein the foam padding  22  defines indentations  24  sized for receiving a collection vessel  26  (of which there can be more than one). Collection vessel  26  has fill line  26   a  and is sealed with collection vessel seal  27 . Pocket  16  contains paperwork  28 . 
         [0047]    Paperwork  28  includes at least one of the following: instruction sheet  30 ; envelope  32 ; patient information form  34 : informed consent form  36 ; sticker  38 ; address label  40 ; postage label  41 ; medical history form  42 ; waiver form  44 ; requisition form  46 ; and return box seal  48 , and in one embodiment, paperwork  28  includes all of the above. 
         [0048]    In a preferred embodiment, the instruction sheet  30  has instructions for how to use the kit  10  and how to complete the rest of the forms of paperwork  28 . Preferably, envelope  32  is large enough to contain box  12  so that once the DNA sample is obtained and deposited into the collection vessel  26 , collection vessel  26  can be sealed with collection vessel seal  27 , placed back into indentations  24 , and sent to a genetic testing lab (not shown). Patient information form  34  allows the physician to input the patient&#39;s insurance information and other relevant information required by the genetic testing lab. Informed consent form  36  provides the patient with all of the known risks of the testing procedure and the patient signs this form after reviewing everything. Sticker  38  can be used to write or print the patient&#39;s name thereon. Address label  40  contains the address for the designated genetic testing lab and postage label  41  has prepaid postage thereon and both are preferably placed on envelope  32  prior to mailing. 
         [0049]    In a preferred embodiment, the kit  10  has two indentations  24  for receiving two collection vessels  26 . The collection vessels  26  may be blood tubing or two sets of salivary tubing. 
         [0050]    In a preferred embodiment, the pocket  16  is comprised of a clear plastic panel that forms the pocket  16 . In another embodiment, the pocket  16  may be made of another material such as cardboard paper or paper. 
         [0051]    In a preferred embodiment, the paperwork  28  contains patient information form  34 , informed consent form  36 , medical history form  42 , and waiver form  44  wherein these forms include checkboxes so that the physician can save time by checking the appropriate checkbox rather than having to fill in all of the information by hand. In another preferred embodiment, the kit  10  contains two sets of the paperwork  28  so that one copy is easily and quickly retained for the patient&#39;s records. In another embodiment, the instruction form  30  includes all of the steps the physician must take in order to complete the kit  10  and return it to the lab. In another embodiment, the instruction sheet  30  is laminated. 
         [0052]    A method of using the kit  10  is also disclosed including the steps of: opening a kit  10  for diagnostic DNA testing by unsealing box seal  15  from box  12 , wherein the box  12  contains a collection vessel  26  for receiving a DNA sample, collection vessel holder  24 , collection vessel seal  27 , and paperwork  28 . Paperwork  28  further includes an instruction sheet  30 , envelope  32 , patient information form  34 , informed consent form  36 , sticker  38 , address label  40 , postage label  41 , medical history form  42 , waiver form  44 , requisition form  46 , and return box seal  48 . 
         [0053]    The method further comprises removing the paperwork  28  from box  12  and completing or filling in patient information form  34 , thereby forming a completed patient information form  34   a  (shown in dashed lines), completing informed consent form  36 , thereby forming completed informed consent form  36   a  (shown in dashed lines), completing medical history form  42 , thereby forming completed medical history form  42   a  (shown in dashed lines), completing waiver form  44 , thereby forming completed waiver form  44   a  (shown in dashed lines), and completing requisition form  48 , thereby forming completed requisition form  48   a  (shown in dashed lines). 
         [0054]    In a preferred embodiment, completed patient information form  34   a  is sent to the diagnostic DNA testing lab so that they can bill the insurance company. Preferably, the completed informed consent form  36   a , the completed medical history form  42   a , and completed waiver form  44   a , are kept by the physician with the patient&#39;s medical records. 
         [0055]    In a preferred embodiment, the requisition form  46  is completed prior to the step of obtaining a saliva sample, blood sample, or other DNA sample. In another preferred embodiment, the requisition form  46  is a letter of necessity. In another preferred embodiment, the kit includes an informed consent form  36 . Finally, in another preferred embodiment, the kit contains both a letter of necessity  46  and an informed consent  36 . The letter of necessity  46  can be sent to an insurance company at the time of testing so that the insurance company will agree to pay for the diagnostic DNA test. The informed consent form  36  explains the risks of the testing to the patient and requires them to authorize the testing. 
         [0056]    The method further includes the step of obtaining a blood sample, saliva sample, or other DNA sample from a patient. 
         [0057]    In the embodiment wherein the sample is blood, the blood is drawn directly into the collection vessel  26 , wherein the collection vessel  26  is a test tube containing an anti-coagulant and the method further includes the step of shaking the test tube so as to mix the blood sample with anticoagulant. 
         [0058]    In the embodiment wherein the sample is saliva, the saliva may be collected by a dry procedure, wet procedure, or non-invasive procedure. The dry procedure requires a cytobrush, buccal swab or other collection device to be inserted into the mouth to scrape tissue from the gum or cheek and the cytobrush, buccal swab or other collection device is placed in the collection vessel. The wet procedure requires swishing liquids in the mouth and spitting them into the collection vessel  26 . The non-invasive procedure requires spitting into the collection vessel  26  and adding a solution to stabilize the DNA. In this embodiment, the collection vessel further  26  comprises at least one of: a cytobrush, a buccal swab, another collection device, a liquid, and stabilizing solution. 
         [0059]    The method further includes the step of placing the collection vessels  26  into the indentations  24  in the foam padding  22  of the bottom  20  of box  12 , optionally placing the completed patient information form  34   a  in the pocket  16  of box  12 , and sealing the box  12  with the return box seal  38 . The method further includes the step of: enclosing the sealed box  12  in the envelope  32 , placing address label  40  and postage label  41  on envelope  32 , and mailing the envelope  32  and box  12  to a DNA genetic testing facility. 
         [0060]    In another preferred embodiment, the collection vessel or test tube (optionally with anti-coagulant) is marked to show the minimum amount of sample required. In another preferred embodiment, the collection vessel  26  or test tube is filled to at least the collection vessel fill mark  26   a , which indicating the minimum amount of sample required. 
         [0061]    In another preferred embodiment, a patient copy of some of the paperwork  28  is provided to the patient or patient&#39;s family. In another embodiment, the sticker  38  is used to identify the patient on some of the paperwork  28 . 
         [0062]    Some advantages of the present disclosure include a significant decrease in the amount of time it takes for the diagnostic DNA test results to return. Typically, it takes several weeks for everything to be completed because of the piecemeal steps and paperwork. By using the kit  10  of the present disclosure, there is significantly less back and forth as all of the steps are completed at the same time and provided to the lab in one efficient kit  10 . This also provides the advantage of saving physicians and staff time. 
         [0063]    It is envisaged that the kit will be beneficial to hospitals, physicians offices, and emergency centers. Essentially, it would be beneficial for any place that does surgery or may administer an MH triggering agent to a patient to have the kit of the present disclosure easily accessible. 
         [0064]    It is to be understood that the above-described kit  10  is capable of being used to detect any other genetically diagnosable diseases without limitation. For example, many cancers and other diseases can be genetically diagnosable. 
         [0065]    It will be appreciated by those skilled in the art that while the Method of Decreasing the Time for Obtaining Diagnostic DNA Test Results and Kit for Same has been described in detail herein, the invention is not necessarily so limited and other examples, embodiments, uses, modifications, and departures from the embodiments, examples, uses, and modifications may be made without departing from the process and all such embodiments are intended to be within the scope and spirit of the appended claims.