System, method, and apparatus for storing, retrieving, and integrating clinical, diagnostic, genomic, and therapeutic data
A data and database technology, applied in medical data mining, medical data management, instruments, etc., can solve problems such as lack of effective search data
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example 1
[0103] Example 1: Long QT Syndrome
[0104] A physician enters the following clinical information to determine a patient's disease risk and susceptibility patterns and / or drug response variability:
[0105] The first and second generation relatives of a 42-year-old patient had a family history of cardiac arrest. Patients occasionally have syncope. Clinical evaluation was normal, and EKG was normal except for mild prolongation of the QT interval. The patient was taking antihistamines for seasonal allergies.
[0106] The system informs the doctor that the patient may have partially penetrating long QT syndrome. The system suggested genetic testing, and the patient was tested for one of the five genes associated with long QT syndrome. The patient was found to have a mutation in LQT2, which affects potassium channels. The system recommends avoiding all drugs that prolong cardiac repolarization, including antiarrhythmics, gastrokinetics, antipsychotics, antihistamines, and cer...
example 2
[0107] Example 2: Arthritis and anemia: Thiopurine S-methyltransferase mutation
[0108] A physician enters the following clinical information into the system to determine a patient's disease risk and susceptibility patterns and / or drug response variability:
[0109] A 70-year-old woman was prescribed azathioprine by her GP for arthritis. Three months after treatment started her doctor discovered that she was anemic. Progressive GI anemia has negative effects.
[0110] The system produced a result set that included a recommendation that the doctor test the location of her Thriopurine S-methyltransferase (TPMT) gene. The patient was found to be heterozygous for the TPMT mutation, which would have resulted in severe hematopoietic toxicity with the end result being anemia. The system produced a result set that suggested to the physician that the patient had a genetic polymorphism that prevented her from receiving azathioprine, and recommended non-TPMT-metabolized anti-arthriti...
example 3
[0111] Example 3: Colon neoplasia and rapid metabolic phenotypes of transacetylases and cytochrome P4501A2
[0112] A physician enters the following clinical information into the system to determine a patient's disease risk and susceptibility patterns and / or drug response variability:
[0113] A 50-year-old male patient had a colonoscopy examination. The patient had a family history of colon cancer. Dietary history records that he eats red meat at every meal. Eight polyps were found, which have been removed. Because of the polyps and family history, his gastroenterologist recommended annual colonoscopy. The set of results generated by the system includes recommendations for physicians to test for N-transacetylase-2 (NAT2) and hepatic cytochrome P4501A2 (CYP1A2). Both findings in the patient were found to be polymorphic, resulting in the patient being a rapid metabolizer of a heterocyclic amine. Heterocyclic amines are present in overcooked red meat. Rapid metabolizers of ...
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