Genetic Testing (Eastern Biotech & Life Sciences)

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Eastern Biotech is offering all kinds of Genetic Testing Services.

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Genetic Testing (Eastern Biotech & Life Sciences)

  1. 1. Genetic Diagnostics <ul><li>Cytogenetic tests </li></ul><ul><li>FISH </li></ul><ul><li>Molecular tests </li></ul>
  2. 2. Molecular Diagnostics <ul><li>Diagnosis of infectious diseases </li></ul><ul><li>Genetic identification </li></ul><ul><li>Diagnosis of genetic diseases </li></ul>
  3. 3. Diagnosis of infectious diseases <ul><li>HPV </li></ul><ul><li>Chlamydia </li></ul><ul><li>Hepatitis </li></ul><ul><li>HIV </li></ul><ul><li>Toxoplasmosis </li></ul>
  4. 4. Genetic Identification <ul><li>- Paternity Testing </li></ul><ul><li>- Forensics </li></ul>
  5. 5. Paternity Testing
  6. 6. Forensic testing
  7. 7. Diagnosis of genetic diseases <ul><li>- Somatic rearrangements in cancer </li></ul><ul><li>- Genetic risk factors </li></ul><ul><li>Pharmacogenetics </li></ul><ul><li>- Mutations in monogenic diseases </li></ul>
  8. 8. Rearrangements in Cancer Cells Chromosomal breaks produce fusion genes These cause leukemias and lymphomas D iagnosis determines treatment and prognosis
  9. 9. Rearrangements in Cancer Cells <ul><li>Lymphocytic Leukemia </li></ul><ul><li>t(9;22) : BCR - ABL </li></ul><ul><li>t(12;21) : TEL - AML1 </li></ul><ul><li>t(1;19) : E 2 A - PBX1 </li></ul><ul><li>t(4;11) : MLL - AF4 </li></ul><ul><li>Myeloid Leukemia </li></ul><ul><li>Inv(16) : CBF - MYH11 </li></ul><ul><li>t(8;22) : AML - ETO </li></ul><ul><li>t(9;22) : BCR - ABL </li></ul>
  10. 10. Diagnosis of genetic diseases <ul><li>- Somatic rearrangements in cancer </li></ul><ul><li>- Genetic risk factors </li></ul><ul><li>Pharmacogenetics </li></ul><ul><li>- Mutations in monogenic diseases </li></ul>
  11. 11. Genetic Risk Factors <ul><li>Monogenic diseases are caused by a </li></ul><ul><li>deleterious mutation in a single gene: </li></ul><ul><li>Disease-causing mutations </li></ul><ul><li>Multifactorial diseases are caused by a </li></ul><ul><li>combination of variations in multiple genes: </li></ul><ul><li>Genetic Risk Factors </li></ul>
  12. 12. Genetic Risk Factors <ul><li>Deep venous thrombosis </li></ul><ul><li>Cardiovascular disease </li></ul><ul><li>Alzheimer disease </li></ul><ul><li>Osteoporosis </li></ul><ul><ul><ul><ul><ul><li> </li></ul></ul></ul></ul></ul>
  13. 13. Genetic Risk Factors <ul><li>Most single risk factors </li></ul><ul><li>have NO clinical significance </li></ul><ul><li>in individual patients </li></ul><ul><ul><ul><ul><ul><li> </li></ul></ul></ul></ul></ul>
  14. 14. Genetic Risk Factors <ul><li>Deep venous thrombosis </li></ul><ul><ul><ul><ul><ul><li> </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>Factor V </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li> Factor II </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li> MTHFR </li></ul></ul></ul></ul></ul>
  15. 15. Diagnosis of genetic diseases <ul><li>- Somatic rearrangements in cancer </li></ul><ul><li>- Genetic risk factors </li></ul><ul><li>Pharmacogenetics </li></ul><ul><li>- Mutations in monogenic diseases </li></ul>
  16. 16. Pharmacogenetic tests <ul><li>Drug specificity </li></ul><ul><li>Drug efficacity - toxicity </li></ul>
  17. 17. Drug specificity <ul><li> Herceptin : HER2 </li></ul><ul><li> Tyrosine kinase inhibitors </li></ul><ul><ul><ul><ul><ul><li>BCR / ABL </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>KIT </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>PDGFR A/B </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>EGFR </li></ul></ul></ul></ul></ul>
  18. 18. Drug efficacity / toxicity <ul><li> Cytochromes </li></ul><ul><li>CYP2D6 </li></ul><ul><li>CYP2C9 </li></ul><ul><li>CYP2C19 </li></ul>
  19. 19. Diagnosis of genetic diseases <ul><li>- Somatic rearrangements in cancer </li></ul><ul><li>- Genetic risk factors </li></ul><ul><li>Pharmacogenetics </li></ul><ul><li>- Mutations in monogenic diseases </li></ul>
  20. 20. Diagnostic bottle necks <ul><li>Number of diseases </li></ul><ul><li>Nature of disease mutation </li></ul><ul><li>Technology </li></ul><ul><li>Cost </li></ul><ul><li>Number of samples </li></ul><ul><li>Organisation </li></ul>
  21. 21. Monogenic Diseases <ul><li>> 4.000 monogenic diseases </li></ul><ul><li>> 2.000 disease genes isolated </li></ul>
  22. 22. Gene testing <ul><li>Most countries : limited number </li></ul><ul><li>(< 50 genes) </li></ul><ul><li>Few countries : large number </li></ul><ul><li>(300-500 genes) </li></ul><ul><li>Nowhere : network complete availability </li></ul><ul><li>(> 1000 genes) </li></ul>
  23. 23. Diagnostic bottle necks <ul><li>Number of diseases </li></ul><ul><li>Nature of disease mutation </li></ul><ul><li>Technology </li></ul><ul><li>Cost </li></ul><ul><li>Number of samples </li></ul><ul><li>Organisation </li></ul>
  24. 24. Disease Mutations <ul><li>Easy tests : Single - common mutations </li></ul><ul><li>Difficult tests : Private mutations </li></ul>
  25. 25. Disease Mutations <ul><li>Single mutations Fragile X Sickle Cell Anemia </li></ul><ul><li>Common mutations Deafness Hemochromatosis </li></ul><ul><li>Panel of mutations Cystic Fibrosis </li></ul><ul><li>Private mutations Breast Cancer </li></ul><ul><li>Colorectal cancer </li></ul>
  26. 26. Easy tests 1 exon HBB Beta thalassemia 1 common mutation SMN1 Spinal muscular atrophy 1 common mutation HBB Sickle cell anemia 1 common mutation PMP22 Hereditary neuropathy (HNPP) 2 common mutations HFE Hemochromatosis type1 1 common mutation GJB2 Deafness Common mutations CFTR Cystic fibrosis 1 common mutation PMP22 Charcot-Marie-Tooth Type 1A 2 common mutations PI Alpha 1 antitrypsin Repeat SCA1,2, 3, 6, 7, 8,10, 12,17 Spinocerebellar ataxia Repeat DMPK Myotonic dystrophy type 1 Repeat AR Kennedy Repeat HD Huntington type 1 Repeat DRPLA Haw River Repeat FRDA Friedreich ataxia Repeat FMR2 FRAXE Repeat FMR1 Fragile X Mutation Gene Disease
  27. 27. Difficult tests Private MSH6 Private MSH2 Private MLH1 Colon cancer Private BRCA2 Private BRCA1 Breast cancer Mutation Gene Disease
  28. 28. BRCA testing <ul><li>BRCA1 : 23 exonen, 1863 AA, 6.200 bp </li></ul>BRCA2 : 28 exonen, 3418 AA, 10.300 bp Totaal : > 17.000 bp sequence
  29. 29. Diagnostic bottle necks <ul><li>Number of diseases </li></ul><ul><li>Nature of disease mutation </li></ul><ul><li>Technology </li></ul><ul><li>Cost </li></ul><ul><li>Number of samples </li></ul><ul><li>Organisation </li></ul>
  30. 30. Mutation Detection <ul><li>1. Point mutations, frame shifts : </li></ul><ul><li>A. Sequencing </li></ul><ul><li>B. WAVE </li></ul><ul><li> 2. Deletions : MLPA </li></ul>
  31. 31. Diagnostic bottle necks <ul><li>Number of diseases </li></ul><ul><li>Nature of disease mutation </li></ul><ul><li>Technology </li></ul><ul><li>Cost </li></ul><ul><li>Number of samples </li></ul><ul><li>Organisation </li></ul>
  32. 32. Cost <ul><li>Single mutations : cheap </li></ul><ul><li>Prevalent mutations : cheap </li></ul><ul><li>Panel of mutations : moderate </li></ul><ul><li>Private mutations : expensive </li></ul>
  33. 33. Cost <ul><li>Socioeconomic situation </li></ul><ul><li>Social security </li></ul><ul><li>Reimbursement by insurance </li></ul>
  34. 34. Diagnostic bottle necks <ul><li>Number of diseases </li></ul><ul><li>Nature of disease mutation </li></ul><ul><li>Technology </li></ul><ul><li>Cost </li></ul><ul><li>Number of samples </li></ul><ul><li>Organisation </li></ul>
  35. 35. Common genetic diseases Easy / cheap Only 1 exon HBB variable variable Beta Thalassemia Easy / cheap Only 1 mutation SMN1 1 / 10.000 1 / 10.000 SMA Easy / cheap Only 1 mutation FMR1 1 / 5.000 1 / 5.000 Fragile X syndrome Easy / cheap 1 common mutation GJB2 1 / 4.000 1 / 1.500 Prelingual deafness Easy / cheap Common mutations CFTR 1 / 2.500 1 / 2.500 Cystic fibrosis Complicated / expensive Mutations in 19 exons Mutations in 16 exons Mutations in 10 exons Mutations in 15 exons Mutations in 16 exons MLH1 MSH2 MSH6 APC MUTYH 1 / 1.000 1 / 25 Colorectal Cancer Complicated / expensive Mutations in 16 exons LDLR 1 / 750 1 / 500 Hypercholesterolemia Complicated / expensive Mutations in 23 exons Mutations in 28 exons BRCA1 BRCA2 1 / 500 1 / 20 Breast Cancer Easy / cheap 2 common mutations HFE 1 / 400 1 / 600 Hemochromatosis Conclusion Mutations Genes Mutation Frequency Disease
  36. 36. Most frequent DNA tests <ul><li>Thalassemia </li></ul><ul><li>Cystic fibrosis </li></ul><ul><li>Breast cancer </li></ul><ul><li>Colorectal cancer </li></ul><ul><li>FRAXE </li></ul><ul><li>SCA </li></ul><ul><li>F5 Leiden </li></ul><ul><li> </li></ul>

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