Clinicalgenet.slideshare

Genetics testing service
and You

Kohda Masakazu

Saitama medical university

Take home messages

http://www.everystockphoto.com/photo.php?imageId=3021422

既存の$%な遺伝子検査と最先端DTCは別物
本当に人の役に立つものになるかは我々次第

I. About Me

II. 遺伝子検査

III. DTC

Genetics, Bioinformatics
and Molecular Biology

II. ☆$%#、 ☆$%# 遺伝子検査

全国紙で遺伝子検査の話題が!!

ニュースサイトのキャプチャでした
(大人の事情)

8/13の読売新聞オンライン記事

http://www.yomiuri.co.jp/national/news/20100813-OYT1T01215.htm


(大人の事情)

子供の才能!!

知性分野なら、記憶力、理解力など6能力について、
「優秀」「良好」「一般」「不利」の4段階に評価

子供の将来もバッチリ!!!

効率的に子供の才能を開花!!!

サイトのキャプチャ画像でした
見たい人は右下リンク参照
(大人の事情)

http://www.idenshikensa.com/index.php

検査結果の一例

検査結果の報告例キャプチャでした
見たい人は右下リンク参照
(大人の事情)

1つの遺伝子から理解力が高いことが明らかに!!!

http://www.idenshikensa.com/pdf/sample_jp/1st.pdf

怒鳴る波平の画像でした
(大人の事情)

そんなわけあるか!

(大人の事情)

でも現実には200件の申し込みがあった (6月から)

テレビすごい…


(大人の事情)

「日本人類遺伝学会は -(略)-
08年には消費者が直接買える商品について、
公的機関の監督を求める見解を出している」

さすが僕たちの日本人類遺伝学会! (未加入だけど)

と思ったけど、そうでもなかった…

某学会のサイトキャプチャ画像でした
(大人の事情)

2000年の見解が最後ですね☆

怒鳴る波平の画像でした
(大人の事情)

伝わる可能性のない
見解とか意味ないぞ!

ちまたの$%な遺伝子検査
とかホントに何なの…

そう思う人は多い
でも受ける人がいるのも現実

本当にすべてが $% なのか

III. DTC (Direct To Consumers)

最近DTCを
遺伝学コミュニティ
Nature / Lancet
で見かける

Direct To Consumers
直接、顧客に

…何を?

Genetic testing を
23andMe

Pathway Genomics deCODEme

deCODEme
アイスランド deCODE genetics が提供するサービス
タイピングするマーカー数はおよそ100万SNPs

deCODE genetics は130の疾患原因・関連遺伝子の
報告をしている (うち39はNature genetics)

DTCが研究と個人を結ぶ

Service provider(s) Academic research

?

People (include your friends and families?)

高度な研究と技術

Academic research
Genotyping over 1 million (mega-) GWAS

?

Low cost (mainly $300 500)

なんだかすごそう
でも、それってどうなの?

やってみた

Pathway Genomics 23andMe
$490 $499

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

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.

DNA TEST OVERVIEW

Personal Details Ordering Healthcare Professional Test Performed / Method
Genotyping by array-based
Name: Masakazu KOHDA Linda Wasserman MD, PHD
DOB: 05/29/1976 4045 Sorrento Valley Blvd. probes
Laboratory Info
Lab Director:


Drug Responses
37 genes
We tested your response to
9 Drugs.

Statins: Myopathy
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
Take Action (0)

Be Proactive (4)

Learn More (10)


CARRIER STATUS
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 !

CARRIER STATUS Canavan disease (ASPA)
245insA, 433-2A>G, 827delGT, C218X, E285A, F295S,
Condition List
G274R, M195R, P280S, Y109X
Condition Name
Cystic fibrosis (CFTR) 嚢胞性線維症
Present
Not Present
3-Methylcrotonyl-CoA carboxylase deficiency !
Alpha-1 antitrypsin deficiency 1078delT, 1677delTA, 1717-1G>A, 1812-1G>A,
!
Amyotrophic lateral sclerosis 1898+1G>A, 1949del84, 2043delG, 2055del9>A,
!
Beta-thalassemia 2105del13ins5, 2108delA, 2184delA, 2307insA,
!
Biotinidase deficiency !
2789+5G>A, 2869insG, 3120G>A, 3171delC,
Bloom syndrome !
3272-26A>G, 3659delC, 3667ins4, 3791delC,
Canavan disease !
3849+10kbC>T, 3876delA, 3905insT, 394delTT,
Cystic fibrosis !
Diabetes, permanent neonatal
405+1G>A, 405+3A>C, 444delA, 574delA, 621+1G>T,
!
Factor XI deficiency
663delT, 712-1G>T, 846delT, 935delA, 936delTA, A455E,
!
Familial dysautonomia A561E, C524X, D1152H, deltaF311, deltaF508, G1349D,
!
Familial Mediterranean fever G178R, G330X, G551D, G622D, G85E, I148T, K710X,
!
Fanconi anemia L206W, L558S, M1101K, N1303K, P205S, P574H, P750L,
!
Galactosemia Q1100P, Q1238X, Q359K/T360K, Q493X, R1158X,
!
Gaucher disease R1162X, R117H, R334W, R347P, R352Q, R709X,
!
Glutaric acidemia, type 1 S1196X, S1251N, S364P, S549N, S549R (A>C), S549R
!
Glycogen storage disease, type 1A !
(T>G), V232D, V520F/I, W1089X, W1204X, W1282X,
Hearing loss, nonsyndromic hereditary !
Y122X, 711+1G>T
Hemochromatosis !
Hemoglobin C !
Hemoglobin E !

Name: Masakazu KOHDA Linda Wasserman MD, PHD
DOB: 05/29/1976 4045 Sorrento Valley Blvd. probes
Laboratory Info
Lab Director:


9 Drugs.

9 drugs
Statins: Myopathy

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)


Copyright 2010 Pathway Genomics Laboratory Director: James R. Nickel, MD CLIA Number: 05D1092505 Version: 1.0

DRUG RESPONSE

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

DRUG RESPONSE

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

DRUG RESPONSE

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


9 Drugs.
Statins: Myopathy

Take Action (0)

Be Proactive (4)

Learn More (10)

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

HEALTH CONDITIONS
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).

HEALTH CONDITIONS
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).

DTCによって
- 会社から顧客へ直接に
- 非常に安価で気楽に
- 遺伝子テストを行える時代


FDA「おい、ちょっと待て」

DTCの是非について議論沸騰中

医学生が自分のゲノムを読んで遺伝
と倫理を考えるコースがスタート

deCODEme

臨床側を対象したサービス

たぶん時間なので急いでまとめ
http://www.sxc.hu/photo/533310/

DTCはインチキなの?
No.
怪しい検査とは違い、高度
な科学研究に立脚している


DTCは危険なの?
Probably.
専門医紹介のサポートあり
でもリテラシー向上は必要


DTCは万人向けなの?
No, not yet.
- 遺伝に関わる医師
- 疾患・遺伝研究をする研究者
は受けてみると良いと思う

DTCは人のためになる?
Yes, I think so.
これからの使い方次第
可能性は十分だから、むしろ
我々に掛かっているのでは?

‘‘ Scientists are increasingly aware of
their responsibility to society. But
what is this responsibility?

The winner of Nobel Prize in Chemistry
John Charles Polanyi

Thank you

got questions?

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