30. 唾液採取 (6/16)
正座して待つ
結果届く (7/8)
Copyright 2010 Pathway Genomics Laboratory Director: James R. Nickel, MD CLIA Number: 05D1092505 Version: 1.0
All Rights Reserved 4045 Sorrento Valley Blvd., San Diego, CA 92121 Page 1 / 64
31. DNA TEST OVERVIEW
Report for: Masakazu KOHDA Lab #: A0001929
Personal Details
Name: Masakazu KOHDA
DOB: 05/29/1976
Ordering Healthcare Professional
Linda Wasserman MD, PHD
4045 Sorrento Valley Blvd.
Test Performed / Method
Genotyping by array-based
evaluation of multiple molecular
probes
Results:
Overview
Age: 34 San Diego, CA 92121
Laboratory Info
Ethnicity: Asian 877-505-7374
Accession # A0001929
Indication: Population Screening NPI: 1033265780
Lab Director:
Specimen Source: Saliva
James R. Nickel, M.D.
Report Date: 07/07/2010
Carrier Status We tested your DNA for
37 single gene conditions.
劣性遺伝子疾患の
You are a carrier for 0 conditions
変異を保有しているか
Drug Responses We tested your response to
9 Drugs.
You have an atypical response to 7 drugs tested:
Caffeine: Metabolism
Carbamazepine: Hypersensitivity
特定の薬品に対する
Clopidogrel: Metabolism
感受性はどうか
Methotrexate: Toxicity
Statins: Myopathy
Statins: Protection against myocardial infarction
Warfarin: Sensitivity
Health Conditions
特定の疾患 (多因子)
*We tested your DNA for
17 complex health conditions.
Take Action (0)
Be Proactive (4)
Learn More (10)
の遺伝子多型から
推定されるオッズ比
Live A Healthy Lifestyle (3)
*Number of conditions tested will vary
depending on ethnicity and gender.
32. DNA TEST OVERVIEW
Report for: Masakazu KOHDA Lab #: A0001929
Personal Details Ordering Healthcare Professional Test Performed / Method
Genotyping by array-based
Name: Masakazu KOHDA Linda Wasserman MD, PHD
evaluation of multiple molecular
DOB: 05/29/1976 4045 Sorrento Valley Blvd. probes
Age: 34 San Diego, CA 92121
Laboratory Info
Ethnicity: Asian 877-505-7374
Accession # A0001929
Indication: Population Screening NPI: 1033265780
Lab Director:
Specimen Source: Saliva
James R. Nickel, M.D.
Report Date: 07/07/2010
Carrier Status We tested your DNA for
37 single gene conditions.
You are a carrier for 0 conditions
Drug Responses
You have an atypical response to 7 drugs tested:
Caffeine: Metabolism
37 genes
We tested your response to
9 Drugs.
Carbamazepine: Hypersensitivity
Clopidogrel: Metabolism
Methotrexate: Toxicity
Statins: Myopathy
Statins: Protection against myocardial infarction
Warfarin: Sensitivity
劣性遺伝子疾患の変異を保有しているか
Health Conditions *We tested your DNA for
17 complex health conditions.
Take Action (0)
Be Proactive (4)
Learn More (10)
Live A Healthy Lifestyle (3)
*Number of conditions tested will vary
depending on ethnicity and gender.
33. CARRIER STATUS
Report for: Masakazu KOHDA Lab #: A0001929
Condition List
Condition Name Present Not Present
3-Methylcrotonyl-CoA carboxylase deficiency !
Alpha-1 antitrypsin deficiency !
Amyotrophic lateral sclerosis !
Beta-thalassemia !
Biotinidase deficiency !
Bloom syndrome !
Canavan disease !
Cystic fibrosis !
Diabetes, permanent neonatal !
Factor XI deficiency !
Familial dysautonomia !
Familial Mediterranean fever !
Fanconi anemia !
Galactosemia !
Gaucher disease !
Glutaric acidemia, type 1 !
Glycogen storage disease, type 1A !
Hearing loss, nonsyndromic hereditary !
Hemochromatosis !
Hemoglobin C !
Hemoglobin E !
35. Name: Masakazu KOHDA Linda Wasserman MD, PHD
evaluation of multiple molecular
DOB: 05/29/1976 4045 Sorrento Valley Blvd. probes
Age: 34 San Diego, CA 92121
Laboratory Info
Ethnicity: Asian 877-505-7374
Accession # A0001929
Indication: Population Screening NPI: 1033265780
Lab Director:
Specimen Source: Saliva
James R. Nickel, M.D.
Report Date: 07/07/2010
Carrier Status We tested your DNA for
37 single gene conditions.
You are a carrier for 0 conditions
Drug Responses We tested your response to
9 Drugs.
You have an atypical response to 7 drugs tested:
Caffeine: Metabolism
Carbamazepine: Hypersensitivity
Clopidogrel: Metabolism
9 drugs
Methotrexate: Toxicity
Statins: Myopathy
Statins: Protection against myocardial infarction
Warfarin: Sensitivity
Health Conditions *We tested your DNA for
17 complex health conditions.
Take Action (0)
特定の薬品に対する感受性はどうか
Be Proactive (4)
Learn More (10)
Live A Healthy Lifestyle (3)
*Number of conditions tested will vary
depending on ethnicity and gender.
Copyright 2010 Pathway Genomics Laboratory Director: James R. Nickel, MD CLIA Number: 05D1092505 Version: 1.0
36. DRUG RESPONSE
Report for: Masakazu KOHDA Lab #: A0001929
One of the great promises of genetic testing is personalized medicine - allowing
caregivers to prescribe the medication that is optimal for you based on your
genotype. Your genetics can cause some medications to be more or less
effective, suggest optimal dosing levels, or in some cases lead to personal
harm with the wrong medication. The Pathway Genomics Drug Response
Report indicates which medications are optimal for you based on your genotype.
Even if you are not currently taking any of these medications, this information
could be critical in an emergency situation.
Atypical Response
Drug Name Drug Response
Abacavir Hypersensitivity
Caffeine Metabolism
Carbamazepine Hypersensitivity
Clopidogrel Metabolism
Methotrexate Toxicity
Statins Myopathy
Statins Protection against myocardial infarction
Tamoxifen Metabolism
Warfarin Sensitivity
37. DRUG RESPONSE
Report for: Masakazu KOHDA Lab #: A0001929
Warfarin : Sensitivity
Your Results
Patients with your genotype have increased sensitivity to warfarin and require lower initial doses. If you are currently
taking, or considering taking, warfarin, please discuss your genetic results with your physician.
About this medication
Warfarin (Coumadin) is a drug that is widely prescribed for the treatment or prevention of blood clots in conditions such
as arterial and venous thrombosis, pulmonary embolism and before surgical procedures such as heart valve
replacement. Warfarin is a difficult drug to manage because the correct dosage is highly variable in the population.
Both genetic and nongenetic factors, such as food and other medications, can affect an individual’s sensitivity to
warfarin. Determining the correct dosage is critical because too much warfarin can cause bleeding and hemorrhage
and too little warfarin can lead to stroke or other complications. Pathway Genomics tests for common mutations in two
different genes that make individuals more sensitive to warfarin.
Your genetic result *1/*1; AA Your genotype have increased sensitivity to
warfarin and require lower initial doses.
We evaluated the following markers
Gene1 Marker1 Your Genotype2
CYP2C9 rs1799853 C/C
CYP2C9 rs1057910 A/A
VKORC1 rs9923231 A/A
38. DRUG RESPONSE
Report for: Masakazu KOHDA Lab #: A0001929
Warfarin : Sensitivity
Your Results
Patients with your genotype have increased sensitivity to warfarin and require lower initial doses. If you are currently
taking, or considering taking, warfarin, please discuss your genetic results with your physician.
About this medication
Warfarin (Coumadin) is a drug that is widely prescribed for the treatment or prevention of blood clots in conditions such
as arterial and venous thrombosis, pulmonary embolism and before surgical procedures such as heart valve
replacement. Warfarin is a difficult drug to manage because the correct dosage is highly variable in the population.
Both genetic and nongenetic factors, such as food and other medications, can affect an individual’s sensitivity to
warfarin. Determining the correct dosage is critical because too much warfarin can cause bleeding and hemorrhage
and too little warfarin can lead to stroke or other complications. Pathway Genomics tests for common mutations in two
different genes that make individuals more sensitive to warfarin.
Your genetic result *1/*1; AA Your genotype have increased sensitivity to
warfarin and require lower initial doses.
We evaluated the following markers
Gene1 Marker1 Your Genotype2
CYP2C9 rs1799853 C/C
CYP2C9 rs1057910 Replication study で確立しているもの
A/A
VKORC1 rs9923231 A/A
39. 37 single gene conditions.
You are a carrier for 0 conditions
Drug Responses We tested your response to
9 Drugs.
You have an atypical response to 7 drugs tested:
Caffeine: Metabolism
Carbamazepine: Hypersensitivity
Clopidogrel: Metabolism
Methotrexate: Toxicity
Statins: Myopathy
Statins: Protection against myocardial infarction
Warfarin: Sensitivity
Health Conditions *We tested your DNA for
17 complex health conditions.
Take Action (0)
Be Proactive (4)
Learn More (10)
Live A Healthy Lifestyle (3)
*Number of conditions tested will vary
depending on ethnicity and gender.
17 conditions
Copyright 2010 Pathway Genomics
特定の疾患 (多因子) の遺伝子多型から
Laboratory Director: James R. Nickel, MD CLIA Number: 05D1092505 Version: 1.0
All Rights Reserved 4045 Sorrento Valley Blvd., San Diego, CA 92121 Page 2 / 64
推定されるオッズ比
40. HEALTH CONDITIONS
Report for: Masakazu KOHDA Lab #: A0001929
Alzheimer's disease, late onset
Content Provided By: Pathway Genomics
Genetics:
Learn More
Population Risk
13 /100
Will get this disease
within their lifetime
These results are based on your reported ethnicity of: Asian
What We Tested and Your Results
Gene/Locus1 SNP1 Your Genotype2 APOE Genotype
APOE rs429358 T/T 3/3
APOE rs7412 C/C 3/3
See glossary at the back of the document for definitions of these terms
What Should I Do?
Your genetic profile is typical of the general population for Alzheimer's disease, meaning your genetic predisposition
for AD is average. In addition to maintaining a healthy diet and regular exercise plan, engaging in mentally-stimulating
activities has been shown to lower one’s chance of AD ( PMID 16472203, PMID 19671904).
41. HEALTH CONDITIONS
Report for: Masakazu KOHDA Lab #: A0001929
Alzheimer's disease, late onset
Content Provided By: Pathway Genomics
Genetics:
Learn More
Population Risk
13 /100
Will get this disease
within their lifetime
These results are based on your reported ethnicity of: Asian
What We Tested and Your Results
Gene/Locus1 SNP1 Your Genotype2 APOE Genotype
=> APOE3/APOE3
APOE rs429358 T/T 3/3
APOE rs7412 C/C 3/3
See glossary at the back of the document for definitions of these terms
What Should I Do?
Your genetic profile is typical of the general population for Alzheimer's disease, meaning your genetic predisposition
for AD is average. In addition to maintaining a healthy diet and regular exercise plan, engaging in mentally-stimulating
activities has been shown to lower one’s chance of AD ( PMID 16472203, PMID 19671904).
52. ‘‘ Scientists are increasingly aware of
their responsibility to society. But
what is this responsibility?
The winner of Nobel Prize in Chemistry
John Charles Polanyi