POLYCYSTIC KIDNEY DISEASE DIAGNOSIS AND TREATMENT BASED ON DETECTION OF PKD1/PKD2 VARIANTS

1 . A method for selectively treating a patient for Polycystic Kidney Disease (PKD), the method comprising:

determining whether the patient is genetically prone to development of kidney cysts, by:

obtaining or having obtained a biological sample from the patient; and

performing or having performed sequencing on the biological sample to determine if the patient has at least one qualifying variant in either a gene PKD1 or a gene PKD2, the qualifying variant selected from the group consisting of Loss of Function (LoF) variants and coding variants; and

obtaining results of a blood pressure test upon the patient;

if the results of the blood pressure test indicate hypertension for the patient:

if the patient has a qualifying variant in the gene PKD1 or the gene PKD2, triggering a PKD intervention; and

if the patient does not have a qualifying variant in the gene PKD1 or the gene PKD2, refraining from triggering the PKD intervention.

2 . The method of claim 1 further comprising:

reviewing an Electronic Health Record (EHR) of the patient to determine whether the results of the blood pressure test indicate hypertension for the patient.

3 . The method of claim 2 wherein:

reviewing the EHR comprises searching the EHR for at least one item selected from the group consisting of: a medical vocabulary code indicating hypertension, a systolic blood pressure measurement above 129 millimeters of mercury, and a diastolic blood pressure measurement above 79 millimeters of mercury.

4 . The method of claim 1 wherein the PKD intervention is selected from the group consisting of:

prescribing angiotensin-converting enzyme (ACE) inhibitors, prescribing angiotensin II receptor blockers, prescribing diuretics, prescribing erythropoietin, prescribing statins, prescribing calcium, prescribing vitamin D supplements, prescribing tolvaptan, and implementing a protein-reduced diet.

5 . The method of claim 1 wherein:

the blood pressure test is performed before the sequencing, and results of the blood pressure test are stored in an Electronic Health Record (EHR) for the patient.

6 . The method of claim 1 further comprising:

in response to the sequencing, generating a report indicating that the PKD intervention be performed for the patient if the patient is later determined to have hypertension.

7 . The method of claim 1 further comprising:

triggering the PKD intervention by generating a report recommending the PKD intervention.

8 . A method for selectively treating a patient for Polycystic Kidney Disease (PKD), the method comprising:

determining whether the patient is genetically prone to development of kidney cysts, by:

obtaining or having obtained a biological sample from the patient; and

performing or having performed sequencing on the biological sample to determine if the patient has at least one qualifying variant in either a gene PKD1 or a gene PKD2, the qualifying variant selected from the group consisting of Loss of Function (LoF) variants and coding variants; and

obtaining results of a biomarker determination for the patient;

if the results of the biomarker determination meet a predefined criteria:

if the patient has a qualifying variant in the gene PKD1 or the gene PKD2, triggering a PKD intervention; and

if the patient does not have a qualifying variant in the gene PKD1 or the gene PKD2, refraining from triggering the PKD intervention.

9 . The method of claim 8 further comprising:

reviewing an Electronic Health Record (EHR) of the patient to determine the results of the biomarker measurement.

10 . The method of claim 8 wherein the PKD intervention is selected from the group consisting of:

prescribing angiotensin-converting enzyme (ACE) inhibitors, prescribing angiotensin II receptor blockers, prescribing diuretics, prescribing erythropoietin, prescribing statins, prescribing calcium, prescribing vitamin D supplements, prescribing tolvaptan, and implementing a protein-reduced diet.

11 . The method of claim 8 wherein:

the biomarker determination is performed before the sequencing, and results of the biomarker determination are stored in an Electronic Health Record (EHR) for the patient.

12 . The method of claim 8 further comprising:

in response to the sequencing, generating a report indicating that the PKD intervention be performed for the patient if the patient is later determined to have a biomarker amount higher than the predefined threshold.

13 . The method of claim 8 wherein:

the biomarker is selected from the group consisting of creatinine, urea, cystatin C, and estimated Glomerular Filtration Rate (eGFR).

14 . The method of claim 13 wherein:

the biomarker is eGFR, and the predefined criteria are defined as a calculation that indicates less than 90 milliliters per minute per 1.73 square meters, and greater than 60 milliliters per minute per 1.73 square meters.

15 . The method of claim 13 wherein:

the biomarker is urea, and the predefined criteria are defined as exceeding 20 milligrams per deciliter.

16 . The method of claim 13 wherein:

the biomarker is cystatin C, and the predefined criteria are defined as exceeding 7.3 milligrams per deciliter.

17 . The method of claim 13 wherein:

the biomarker is creatinine, and the predefined criteria are defined as exceeding 1.2 milligrams per deciliter.

18 . A method for selectively recommending treatment for a patient for Polycystic Kidney Disease (PKD), the method comprising:

reviewing sequencing data for the patient to determine if the patient has at least one qualifying variant in a gene PKD1 or a gene PKD2, the qualifying variant selected from the group consisting of Loss of Function (LoF) variants and coding variants;

if the patient does not have a qualifying variant in the gene PKD1 or the gene PKD2:

generating a report recommending a first set of criteria for performing a PKD intervention; and

if the patient does have a qualifying variant in the gene PKD1 or the gene PKD2:

generating a report recommending a second set of criteria for performing the PKD intervention.

19 . The method of claim 18 wherein:

the first set of criteria comprises confirmation of a polycystic condition; and

the second set of criteria comprises a determination of hypertension for the patient.

20 . The method of claim 18 wherein the PKD intervention is selected from the group consisting of:

prescribing angiotensin-converting enzyme (ACE) inhibitors, prescribing angiotensin II receptor blockers, prescribing diuretics, prescribing erythropoietin, prescribing statins, prescribing calcium, prescribing vitamin D supplements, prescribing tolvaptan, and implementing a protein-reduced diet.

21 . A method for selectively treating a patient for Polycystic Kidney Disease (PKD), the method comprising:

determining whether the patient is genetically prone to development of kidney cysts, by:

obtaining or having obtained a biological sample from the patient; and

performing or having performed sequencing on the biological sample to determine if the patient has at least one qualifying variant in either a gene PKD1 or a gene PKD2, the qualifying variant selected from the group consisting of Loss of Function (LoF) variants and coding variants;

obtaining results of a blood pressure test upon the patient; and

if the results of the blood pressure test indicate hypertension for the patient:

if the patient has a qualifying variant in the gene PKD1 or the gene PKD2, directing a biomarker determination for the patient, the biomarker determination selected from a group consisting of a creatinine measurement, a urea measurement, a cystatin C measurement, and an estimated Glomerular Filtration Rate (eGFR) calculation for blood measurements from the patient; and

if the patient does not have a qualifying variant in the gene PKD1 or the gene PKD2, refraining from directing the biomarker measurement.