(*Next Generation Sequencing)
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1 (*Next Generation Sequencing) Patricia Aguilar Martinez, MD, PhD CHU de Montpellier, FRANCE & ENERCA WP leader 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals 1
2 2 Disclosures Company name Research support Employee Consultant Stockholder Speakers bureau Advisory board Other Nothing to disclose 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
3 3 This talk is applicable for: Thalassaemia Sickle cell disease Membrane disorders (e.g. spherocytosis) Enzyme defects (e.g. G6PD,PKD) PNH Other forms of rare anaemias Definite Probable 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
4 4 outline Why do we perform genetic tests (for Rare Anaemias)? What has changed in 2015? Are genetic tests available on the internet reliable? What can we expect from NGS (next generation sequencing)? 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
5 1-Whydo weperformgenetictests for rare anaemias? Pastand present 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals 5
6 6 Rare anaemias Most rare anaemias(ras) are inherited The driver of heredity is DNA Genetic tests can be useful for people carrying a RA 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
7 7 DNA is present in our cells cell Chromosomes nucleus
8 8 Chromosomes are made of DNA 46 2 x DNA X Y Protein* * e.g.: G6PD, pyruvate kinase, (haemo)globins
9 9 DNA (deoxyribonucleic acid) 4 subunits (A, T G, C) : nucleotides or bases 3 billion bases ACTGTAATGGGCGTGACATTACCCGC DNA sequence (arrangement of bases) of Human beings is 99.9% identical-only 0.1% is unique
10 10 Genes DNA contain genes Genes code for proteins Genetic diseases Ex: globin genes code for globin chains (haemoglobin) DNA
11 11 Genetic testing (analysis of DNA) Diagnosisof a disease Confirm a (difficult) diagnosis : Unstable hemoglobins Blackfan Diamond Anemia(DBA) Prenatal /pre-implantation diagnosis Preparation of prenatal diagnosis : DNA analysis of the carrier parents Prognosis of a disease Ex : (type of mutation, genetic modifiers ) Thalassemia major or intermedia Sickle cell disease
12 12 Genetic testing : methods DNA Sequencing (Sanger) Analysis of portions of genes or fragments of DNA CCTCACATGTGGAGCCACACCTA mutation? Genetic disease
13 13 2 -What has changed in 2015? Present (& future) 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
14 14 Main revolutions in genetic testing i. The role played by the web ii. Next generation sequencing (NGS) 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
15 15 i. Are genetic tests available on the internet reliable? 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
16 16 Traditional prescription of genetic tests prescription Officially labelled of genetic diagnosis laboratory Blood sample Parents, patients Specialized physician, geneticist Specialized (authorized) biologists GENETIC RESULTS GENETIC RESULTS
17 17 Direct To Consumer genetictesting(dtc) Order genetic test online Saliva sample Laboratory Parents, patients GENETIC RESULTS
18 18 DTC genetic tests : what can you order online? Disease risk DTC > Ancestry research Paternity or maternity tests Companies 23andme Navigenetics DeCODEme DNAexplain. Market (2009) : 20,000 30,000 people US $ per test Total around US $10 20 million* *Genetics IN Medicine Volume 12, Number 9, September 2010
19 19 Example of DTC Provider: decodeme Price: from EUR 840 Duration: Website: about 21 days 47 disease risks and genetic predispositions are analysed. Ancestry tests: Origin analysis Paternity test Paternity test without sample of the father Maternity test Maternity test without sample of the mother Prenatal paternity test Test with Trace Samples Reconstruction Test for Twins Lifestyle Gene Tests: GenePartner- Love is no coincidence! Warrior-Gene test Lifestyle Gentest Package (Warrior Gene & Factoids) Baby Gender DNA test Diagnostic Gene Tests: Genetic Health Tests Animal DNA Tests:
20 20 DTC genetictests in the USA
21 21 Problems with DTC genetic tests (1) 1. Risk of the method? Ex: contamination of the sample by another DNA 2. Safety of the result? Ex 1: Expertise of the laboratory analysis? Ex 2: Expertise of the biologists?
22 22 Problems with DTC genetic tests (2) 3. Interpretation of the result? Ex: complexity of the genetic results no doctor to explain Ex: Legal issues : for some illness it is mandatory to inform the relatives (e.g. France) 4. Privacy & related questions? My genome data available online? To whom? For what purpose? Insurance Legal issues
23 23 DTC genetictests in Europe
24 24 Genetictests in Europe
25 Information on genetictests 25
26 26 ii. Next Generation Sequencing (NGS) 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
27 DNA sequencing: Sanger method Analysis of fragments of DNA / portions of genes DNA Time consuming Cost
28 28 Next generation sequencing (NGS) High number of DNA fragments High number of genes
29 29 Next generation sequencing (NGS) All the coding regions of a gene : exome All the genome(coding and non coding regions)
30 30 International HumanGenomeProject (HGP) International scientific research project (> 20 labs : USA, UK, France, Australia, China and other spontaneous relationships.) Goal : determine the sequence of human DNA and mapping all the genes. $3 billion Begun in 1990(15 year-project) Declared completed in April : 1 genome $1,000 in one day
31 31 Next generation sequencing (NGS) Interest? Genetic diseases due to very big genes Genetic diseases due to several genes Ex: Blackfan Diamond anaemia Complex associations : multigene disorders Diseases with genetic modifiers Rapidity Decreased cost
32 32 Next generation sequencing (NGS) Problems? Too much data (bioinformatics) New ways of working for biologist New ethical and legal issues
33 33 «Incidentalfindings» in genescreens inadvertent discoveries made while looking for something else.
34 34 «Incidentalfindings» in genescreens The American College of Medical Genetics and Genomics (ACMG) recommended that every time a lab conducts DNA sequencing, the lab should also test for several dozen specific genes associated with other disorders should report the incidental findingsto anyone who ordered the tests, usually a physician. published a list of variants to be reported (does not include any RA)
35 35 Future is now NGS allows analysing the whole genome of an individual predicting diseases (even at birth) making a complete genetic card of an individual A new way to use genetic testing Probably a new area in medical practice 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
36 Laboratoire d hématologie, CHU de Montpellier, France Molecular Biology unit Collaborators Patricia Aguilar Martinez Séverine Cunat Muriel Giansily-Blaizot Olivier Guillot Grégory Moulis, Fabienne Danton Florence Rousseau Jean-François Schved Catherine Badens, Marseille Nathalie Couque, J Elion, Paris Lydie Da Costa, Paris Philippe Joly, Lyon Véronique Picard, Bicêtre Serge Pissard, Paris Jacques Rochette, Amiens Dimitris Loukopoulos, Greece (Hematimage),France Andrea Mosca, Italy Lydie da Costa, France Achille Iolascon, Italy Clara Camaschella, Italy Mayka Sanchez, Spain L Ribeiro, Portugal Mirela Ranglova, Bulgaria MD Capellini, Italy Panayiotis D Bamidis,Greece Didi Jasmin (ESH), France Beatrice Gulbis, Belgium Swee Lay Thein, UK JL Vives/Maria Manu, Spain Richard van Wijk, NL Barbara de la Salle, UK Marina Kleanthous, Cyprus 36
37 37 Thank you for your attention bedankt voor je aandacht 6 th European Symposium on Rare Anaemias-1 st Dutch-Belgian meeting for patients and health professionals
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