Your SlideShare is downloading. ×
0
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Clinicalgenet.slideshare
Upcoming SlideShare
Loading in...5
×

Thanks for flagging this SlideShare!

Oops! An error has occurred.

×
Saving this for later? Get the SlideShare app to save on your phone or tablet. Read anywhere, anytime – even offline.
Text the download link to your phone
Standard text messaging rates apply

Clinicalgenet.slideshare

1,737

Published on

All rights reserved. …

All rights reserved.

Published in: Education, Technology, Design
0 Comments
3 Likes
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total Views
1,737
On Slideshare
0
From Embeds
0
Number of Embeds
2
Actions
Shares
0
Downloads
0
Comments
0
Likes
3
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
No notes for slide

Transcript

  • 1. Genetics testing serviceand YouKohda Masakazu Saitama medical university
  • 2. Take home messages http://www.everystockphoto.com/photo.php?imageId=3021422
  • 3. 既存の$%な遺伝子検査と最先端DTCは別物本当に人の役に立つものになるかは我々次第 http://www.everystockphoto.com/photo.php?imageId=2095855
  • 4. Agenda
  • 5. I. About Mehttp://www.everystockphoto.com/photo.php?imageId=237995 II. 遺伝子検査http://www.everystockphoto.com/photo.php?imageId=237994 III. DTChttp://www.everystockphoto.com/photo.php?imageId=237992
  • 6. Genetics, Bioinformaticsand Molecular Biology http://www.everystockphoto.com/photo.php?imageId=237920
  • 7. II. ☆$%#、 ☆$%# 遺伝子検査 http://www.everystockphoto.com/photo.php?imageId=243488
  • 8. 全国紙で遺伝子検査の話題が!! ニュースサイトのキャプチャでした (大人の事情) 8/13の読売新聞オンライン記事 http://www.yomiuri.co.jp/national/news/20100813-OYT1T01215.htm Saitama medical university
  • 9. ニュースサイトのキャプチャでした (大人の事情) 子供の才能!!知性分野なら、記憶力、理解力など6能力について、「優秀」「良好」「一般」「不利」の4段階に評価 子供の将来もバッチリ!!! http://www.yomiuri.co.jp/national/news/20100813-OYT1T01215.htm
  • 10. 効率的に子供の才能を開花!!!サイトのキャプチャ画像でした見たい人は右下リンク参照 (大人の事情) http://www.idenshikensa.com/index.php
  • 11. 検査結果の一例 検査結果の報告例キャプチャでした 見たい人は右下リンク参照 (大人の事情)1つの遺伝子から理解力が高いことが明らかに!!! http://www.idenshikensa.com/pdf/sample_jp/1st.pdf
  • 12. 怒鳴る波平の画像でした (大人の事情)そんなわけあるか!
  • 13. ニュースサイトのキャプチャでした (大人の事情)でも現実には200件の申し込みがあった (6月から) テレビすごい… http://www.yomiuri.co.jp/national/news/20100813-OYT1T01215.htm
  • 14. ニュースサイトのキャプチャでした (大人の事情)「日本人類遺伝学会は -(略)-08年には消費者が直接買える商品について、公的機関の監督を求める見解を出している」さすが僕たちの日本人類遺伝学会! (未加入だけど) http://www.yomiuri.co.jp/national/news/20100813-OYT1T01215.htm
  • 15. と思ったけど、そうでもなかった…某学会のサイトキャプチャ画像でした (大人の事情) 2000年の見解が最後ですね☆
  • 16. 怒鳴る波平の画像でした (大人の事情)伝わる可能性のない見解とか意味ないぞ!
  • 17. ちまたの$%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
  • 18. 本当にすべてが $% なのか
  • 19. III. DTC (Direct To Consumers) http://www.everystockphoto.com/photo.php?imageId=879661
  • 20. 最近DTCを遺伝学コミュニティNature / Lancet で見かける
  • 21. Direct To Consumers 直接、顧客に …何を?
  • 22. Genetic testing を 23andMe Pathway Genomics deCODEme
  • 23. 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SNPsdeCODE 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)
  • 24. DTCが研究と個人を結ぶService provider(s) Academic research ? People (include your friends and families?)
  • 25. DTCが研究と個人を結ぶService provider(s) Academic research ? People (include your friends and families?)
  • 26. 高度な研究と技術 Academic researchGenotyping over 1 million (mega-) GWAS ? Low cost (mainly $300 500)
  • 27. なんだかすごそうでも、それってどうなの?
  • 28. …えっ?
  • 29. やってみたPathway Genomics 23andMe $490 $499
  • 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: 1.0All 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 !
  • 34. CARRIER STATUS Canavan disease (ASPA) 245insA, 433-2A>G, 827delGT, C218X, E285A, F295S, Report for: Masakazu KOHDA Lab #: A0001929 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 !
  • 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 #: A0001929One of the great promises of genetic testing is personalized medicine - allowingcaregivers to prescribe the medication that is optimal for you based on yourgenotype. Your genetics can cause some medications to be more or lesseffective, suggest optimal dosing levels, or in some cases lead to personalharm with the wrong medication. The Pathway Genomics Drug ResponseReport indicates which medications are optimal for you based on your genotype.Even if you are not currently taking any of these medications, this informationcould 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 #: A0001929Warfarin : SensitivityYour ResultsPatients with your genotype have increased sensitivity to warfarin and require lower initial doses. If you are currentlytaking, or considering taking, warfarin, please discuss your genetic results with your physician.About this medicationWarfarin (Coumadin) is a drug that is widely prescribed for the treatment or prevention of blood clots in conditions suchas arterial and venous thrombosis, pulmonary embolism and before surgical procedures such as heart valvereplacement. 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 towarfarin. Determining the correct dosage is critical because too much warfarin can cause bleeding and hemorrhageand too little warfarin can lead to stroke or other complications. Pathway Genomics tests for common mutations in twodifferent 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 Genotype2CYP2C9 rs1799853 C/CCYP2C9 rs1057910 A/AVKORC1 rs9923231 A/A
  • 38. DRUG RESPONSE Report for: Masakazu KOHDA Lab #: A0001929Warfarin : SensitivityYour ResultsPatients with your genotype have increased sensitivity to warfarin and require lower initial doses. If you are currentlytaking, or considering taking, warfarin, please discuss your genetic results with your physician.About this medicationWarfarin (Coumadin) is a drug that is widely prescribed for the treatment or prevention of blood clots in conditions suchas arterial and venous thrombosis, pulmonary embolism and before surgical procedures such as heart valvereplacement. 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 towarfarin. Determining the correct dosage is critical because too much warfarin can cause bleeding and hemorrhageand too little warfarin can lead to stroke or other complications. Pathway Genomics tests for common mutations in twodifferent 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 Genotype2CYP2C9 rs1799853 C/CCYP2C9 rs1057910 Replication study で確立しているもの A/AVKORC1 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 conditionsCopyright 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: 1.0All 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 Alzheimers 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 Alzheimers 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 Alzheimers 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 Alzheimers 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).
  • 42. 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 Saitama medical university
  • 43. FDA「おい、ちょっと待て」
  • 44. DTCの是非について議論沸騰中
  • 45. 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
  • 46. deCODEme臨床側を対象したサービス
  • 47. たぶん時間なので急いでまとめ http://www.sxc.hu/photo/533310/
  • 48. 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 Saitama medical university
  • 49. 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 Saitama medical university
  • 50. 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 Saitama medical university
  • 51. 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? Saitama medical university
  • 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
  • 53. Thank youhttp://www.everystockphoto.com/photo.php?imageId=238810
  • 54. got questions? http://www.everystockphoto.com/photo.php?imageId=2433714

×