2014 05 21_personal_genomics_v_n2n_vfinal

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Personal Genomics

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2014 05 21_personal_genomics_v_n2n_vfinal

  1. 1. Wim Van Criekinge UGent 21 mei 2014
  2. 2. Lab for Bioinformatics and computational genomics Overview • Who ? • ^[now][transl comput]ational[epi]genomic⎮ • > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App
  3. 3. Lab for Bioinformatics and computational genomics Overview • Who ? • ^[now] [transl comput]ational⎮ [epi]genomic$ > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App
  4. 4. Lab for Bioinformatics and computational genomics Overview • Who ? • > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App
  5. 5. Lab for Bioinformatics and computational genomics
  6. 6. Actionable Epigenome …. It is estimated that there are more microbes in your intestine than there are human cells in your body!
  7. 7. Lab for Bioinformatics and computational genomics Overview • Who ? Where ? • > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App
  8. 8. Lab for Bioinformatics and computational genomics 107 106 105 104 103 102 101 1108 109 Full genome bp G E N E T I C Whole-genome sequencing Enrichment seq (Exome) PCR Enrichment Targeted Panels Instrument and Assay providers CLIA Lab service providers
  9. 9. The genome fits as an e-mail attachment
  10. 10. Lab for Bioinformatics and computational genomics
  11. 11. Lab for Bioinformatics and computational genomics
  12. 12. Lab for Bioinformatics and computational genomics Overview • Who ? Where ? • > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App
  13. 13. Generic Health advice •Exercise (Hypertrophic Cardiomyopathy) •Drink your milk (MCM6 Lactose intolarance) •Eat your green beans (glucose-6-phosphate dehydrogenase Deficiency) •& your grains (HLA-DQ2 – Celiac disease) •& your iron (HFE - Hemochromatosis) •Get more rest (HLA-DR2 - Narcolepsy)
  14. 14. Generic Health advice (UNLESS) •Exercise (Hypertrophic Cardiomyopathy) •Drink your milk (MCM6 Lactose intolarance) •Eat your green beans (glucose-6-phosphate dehydrogenase Deficiency) •& your grains (HLA-DQ2 – Celiac disease) •& your iron (HFE - Hemochromatosis) •Get more rest (HLA-DR2 - Narcolepsy)
  15. 15. Generic Health advice (UNLESS) •Exercise (Hypertrophic Cardiomyopathy) •Drink your milk (MCM6 Lactose intolerance) •Eat your green beans (glucose-6-phosphate dehydrogenase Deficiency) •& your grains (HLA-DQ2 – Celiac disease) •& your iron (HFE - Hemochromatosis) •Get more rest (HLA-DR2 - Narcolepsy)
  16. 16. Generic Health advice (UNLESS) •Exercise (Hypertrophic Cardiomyopathy) •Drink your milk (MCM6 Lactose intolerance) •Eat your green beans (glucose-6-phosphate dehydrogenase Deficiency) •& your grains (HLA-DQ2 – Celiac disease) •& your iron (HFE - Hemochromatosis) •Get more rest (HLA-DR2 - Narcolepsy)
  17. 17. Molecular Profiling The study of specific patterns (fingerprints) of proteins, DNA, and/or mRNA and how these patterns correlate with an individual's physical characteristics or symptoms of disease.
  18. 18. Lab for Bioinformatics and computational genomics Overview • Who ? Where ? • > Genetics • Technology: Next Gen Sequencing • … Personal Genomics • Manifesto • The App ^[now][transl comput]ational⎮ [epi]genomic$
  19. 19. Lab for Bioinformatics and computational genomics
  20. 20. Lab for Bioinformatics and computational genomics
  21. 21. Lab for Bioinformatics and computational genomics
  22. 22. Lab for Bioinformatics and computational genomics
  23. 23. Lab for Bioinformatics and computational genomics
  24. 24. Lab for Bioinformatics and computational genomics
  25. 25. Lab for Bioinformatics and computational genomics
  26. 26. Lab for Bioinformatics and computational genomics The Technical Feasibility Argument The Quality Argument The Price Argument The Logistics Argument
  27. 27. Lab for Bioinformatics and computational genomics
  28. 28. Lab for Bioinformatics and computational genomics Recreational genomics
  29. 29. Lab for Bioinformatics and computational genomics Recreational genomics • Experimental designs are outdated by technological advances • Genetic background (reference genome) as a concept will need to be updated • Traits dependent on multiple loci are “complicated”: educate and provide tools to deal with it
  30. 30. Lab for Bioinformatics and computational genomics Recreational genomics
  31. 31. Lab for Bioinformatics and computational genomics Recreational genomics • Eye color … why not the ear wax/asparagus or unibrown example • … metabolize nutrients (newborns ?) • … metabolize drugs in case you need it urgently ?
  32. 32. Lab for Bioinformatics and computational genomics Recreational genomics
  33. 33. Lab for Bioinformatics and computational genomics Recreational genomics “several 23andMe users have reported taking the FDA’s advice of reviewing their genetic results with their physicians, only to find the doctors unprepared, unwilling, or downright hostile to helping interpret the data”
  34. 34. Lab for Bioinformatics and computational genomics
  35. 35. Lab for Bioinformatics and computational genomics Recreational genomics
  36. 36. Lab for Bioinformatics and computational genomics
  37. 37. Lab for Bioinformatics and computational genomics Recreational genomics
  38. 38. Lab for Bioinformatics and computational genomics Recreational genomics
  39. 39. Lab for Bioinformatics and computational genomics
  40. 40. Lab for Bioinformatics and computational genomics my genome is too important (for me) to leave it (only) to doctors
  41. 41. Lab for Bioinformatics and computational genomics NXTGNT biohackerspace …
  42. 42. Lab for Bioinformatics and computational genomics PGMv2: Personal Genomics Manifesto
  43. 43. Lab for Bioinformatics and computational genomics Everyone should have the power and legitimacy to be able to discover, develop and find new things about their own genome data. Intelligent exploration, experimentation and trial to push the boundaries of knowledge are a basic human right. PGMv2: Personal Genomics Manifesto
  44. 44. Lab for Bioinformatics and computational genomics Personal genome data access should be affordable to all irrespective of nationality, gender, social background or any other circumstance. Not having access to a personal genetic test is in itself a new kind of discrimination. PGMv2: Personal Genomics Manifesto
  45. 45. Lab for Bioinformatics and computational genomics Whether one wants to share genome data or keep it private should be a matter of personal choice. Whatever attitude a person has towards personal genome privacy, it should be utterly respected. Corporate interest can never compromise any human right. Laws must fully protect individual human rights of equality for every person, irrespective of predicted risks from genetic data. PGMv2: Personal Genomics Manifesto
  46. 46. Lab for Bioinformatics and computational genomics Stating that genetic tests merely provide non- clinical information misses the point of what personal genomics is all about. Most genomic information is uninterpretable and may well be meaningless. But those are not reasons to deny it to people. Genetic test results are not unrelated to someone’s health, one’s ability to respond to certain drugs and one’s ethnic ancestry. PGMv2: Personal Genomics Manifesto
  47. 47. Lab for Bioinformatics and computational genomics Education in risks and opportunities for personal genetic testing should be the primary aim of policy makers. Restricting access to interested people makes no sense and it is virtually impossible to ensure. Access to personal genomics data and tools for its interpretation should become accessible to everyone. PGMv2: Personal Genomics Manifesto
  48. 48. Lab for Bioinformatics and computational genomics Overview • Who ? Where ? • > Genetics • Technology: Next Gen Sequencing • Personal …. Medicine/Genomics • Manifesto • The App ^[now][transl comput]ational⎮ [epi]genomic$
  49. 49. Lab for Bioinformatics and computational genomics
  50. 50. Genomeslikemine

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