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Trends in Genetic Testing Patrick Willems GENDIA Antwerp, Belgium

Trends in Genetic Testing Patrick Willems GENDIA Antwerp, Belgium. Disclosure CEO and shareholder of GENDIA (private lab offering genetic tests) NO financial relationship with research bodies, medical

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Trends in Genetic Testing Patrick Willems GENDIA Antwerp, Belgium

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  1. Trends in Genetic Testing • Patrick Willems • GENDIA • Antwerp, Belgium

  2. Disclosure • CEO and shareholder of GENDIA • (private lab offering genetic tests) • NO financial relationship with research bodies, medical • or pharmaceutical companies, hospitals or government • or

  3. Trends in Genetic Testing • 1. From testing in university genetic labs • to testing in private medical labs • 2. From patient testing • towards population screening

  4. Current Organisation Genetic testing • Small local labs : small portfolio of tests ( < 50) • Same spectrum of tests : common + easy tests • Majority academic labs : research -diagnostic setting

  5. Future Organisation Genetic testing From small university genetic labs to : 1. Large private genetic labs 2. Large private medical labs

  6. Trends in Genetic Testing From small university genetic labs to : 1. Large private genetic labs • Prenatal testing : NIPT : Ariosa, Natera, Illumina, BGI Carrier testing : Counsyl • Cancer testing : Germline risk test : Color, Myriad Liquid biopsy : Pathway Genomics 2. Large private medical labs • Quest (Athena Genetics, Genzyme) • Labcorp (Correlagen) • Bioreference (GenedX) • Sonic • Eurofins (Emory Genetics)

  7. www.GENDIA.net

  8. GENDIA Network 1Central lab 100 Test labs 1000 Referral labs

  9. GENDIA network

  10. Advantages GENDIA network • 1lab to send samples to • 1lab to get results from • > 3.000 genetic tests • Large portfolio • Easy selection of first test • Best Reflex testing

  11. Trends in Genetic Testing • 1. From testing in university genetic labs • to testing in private medical labs • 2. From patient testing • towards population screening

  12. From patient testing towardspopulation screening Form testing of 1 gene in 1 % of the population suspected of a genetic disorder to : • wholegenometesting of the wholepopulation to identifygermlineinheritedmutations(WES/WGS) 2. Repeated screening forcancer DNA to identifysomatic non-inheritedmutations (liquid biopsy)

  13. Current paradigm • Patientwithsuspectedgenetic disorder • visit • Pediatrician-neurologist-gynecologist • visit • Geneticist • Genetic test

  14. Future paradigm • Healthyindividual • visit • Physician Dr. Google • Genetic screening test visit Physician • Geneticist Dr. Google

  15. New genetic tests • GERMLINE MUTATIONS • NIPT • STID • CANCER RISK • WES / WGS • 2. SOMATIC MUTATIONS IN CANCER • CT-DNA (liquid biopsy)

  16. NIPTNON – INVASIVE PRENATAL TESTING Prenatal testing of cff DNA (cell free fetal DNA) from maternal blood for trisomy 21 (Down syndrome), Trisomy 18, trisomy 13, and fetal sex NIPT is worldwide the most frequent genetic test with > 1 million tests per year (GENDIA : > 33.000 NIPT)

  17. NIPT cff DNA • <<< 1 % of total DNA in maternal circulation is fetal • 5 - 40 % of cell-free DNA (cf DNA) in maternal circulation is fetal

  18. NIPT NIPT currently is most common genetic test More NIPTs than all other genetic tests together Approximately 1 millionNIPTs per year worldwide Future Market value : 4 billion US / year (price : 250 – 500 Euro per test)

  19. STIDSCREENING TEST for INHERITED DISEASE Testing of future parents for common recessive diseases such as cystic fibrosis, thalassemia, fragile X, SMA (overall frequency : 1/200) before or during pregnancy CARRIER SCREENING is worldwide the second most frequent genetic test If both parents carry a mutation in the same gene the risk of an affected fetus is 25 % and prenatal testing by CVS or AC is offered

  20. STID

  21. Genetic screening in Askhenazi jews

  22. New genetic tests • GERMLINE MUTATIONS • NIPT • STID • CANCER RISK • WES / WGS • 2. SOMATIC MUTATIONS IN CANCER • CT-DNA (liquid biopsy)

  23. CANCER RISK TESTING The cancer risk test identifies patients with a germline mutation that have a high risk to develop cancer

  24. Cancer tests Minority of cancers is inherited due to germline mutations CANCER RISK TEST Majority of cancers is not inherited and due to somatic mutations in the tumor LIQUID BIOPSY

  25. Inherited Cancer due to Germline mutations • Ovarian Cancer : 15 % • Breast Cancer : 10 % • Colon cancer : 5% • Prostate cancer : low • Lung cancer : very low

  26. Cancer risk test Analysis of 30 cancergenes : BRCA1, BRCA2, APC, ATM, BAP1, BARD1, BMPR1A, BRIP1, CDH1, CDKN2A CDK4, CHEK2, EpCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11 and TP53 Involved in genetic predisposition to + Breast and Ovarian cancer, + Intestinal and uterine, + Pancreas, stomach, skin and prostate cancer Most likely third common test worldwide Price : 359 Euro (10 Euro per gene)

  27. CANCER RISK test

  28. WES / WGS WES (Whole Exome Sequencing) WGS (Whole Genome Sequencing) To identify the genetic cause of a presumed genetic anomaly

  29. DNA Sequencing 1980-1990 1990-2005 > 2005 Radio - gel Fluorescent - capillary Next generation Thousand bp / day Million bp / day Billion bp / day

  30. Finding the one pathogenic variant that is the needle in the hay stack

  31. The power of WES CASE 1 : Recurrent attacks of metabolic acidosis, psychomotor retardation and microcephaly. Her metabolic profile was normal. Diagnosis unknown. A pathogenic homozygous WDR73:c.287G>A variant was identified in exon 4 of the WDR73 gene. Mutations in this gene lead to Galloway-Mowat syndrome. In > 70 % of cases with presumed monogenic disease the disease gene and mutation are identified by WES. Price : 1500 Euro

  32. WES / WGS 1. To identify the genetic cause of a congenital anomaly eci 2. To identify carriership for recessive disorders (expanded STID) 3. To identify monogenic mutations causing adult-onset disease • Neurological disease • Cardiovascular disease • Cancer 4. To identify risk factors for multifactorial disease

  33. Trends in Genetic Testing • Patrick Willems • GENDIA • Antwerp, Belgium

  34. New genetic tests • GERMLINE MUTATIONS • NIPT • STID • CANCER RISK • WES / WGS • 2. SOMATIC MUTATIONS IN CANCER • CT-DNA

  35. CT DNA testing CIRCULATING TUMOR DNA testing screens for somatic mutations in cell-free DNA (cf DNA) from cancer cells in blood

  36. CT DNA test : screening for germline mutations • CT DNA test screensCell-free DNA from the cancercells in blood(liquid biopsy) • DNA fromcancercellscontainspatient-specificoncogenicmutations • Cancer therapy is dependent upon the specific mutation (Personalised medicine) • Liquid biopsies are therefore “thera-diagnostic” tests • Estimatedmarket of liquid biopsies : 40 billionUSD per year

  37. Targeted treatment for cancer Personalised targeted treatment inhibits specific mutations that cause cancer These mutations are patient-specific Mutations can be detected by molecular studies of : . tumor material (biopsy) : FFPE, fresh or frozen . blood (liquid biopsy) Therapy is dependent upon the specific mutation Personalised medicine

  38. Advantages liquid biopsies • No tissue biopsy needed • No FFPE fixation • Profiling the overall genotype of cancer • primary cancer • circulating cells • metastases • Better evaluation of : • reaction to therapy • development of resistance • Also screening of patients without tumor but high cancer risk

  39. Current indications for liquid biopsy • Follow up of patientswithcancer as a follow up of treatment treatment • Screening of individuals at high risk forcancer (BRCA, HNPCC carriers)

  40. Future indications for liquid biopsy Every adult every year as a general cancer screening

  41. Looking into the future NIPT WGS CT-DNA

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