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Platica introductoria 2
- 1. Genética y Genómica: Nuestra herencia, Nuestro futuro
- 2. Nuestra herencia Nuestro futuro Genética ¿el pasado? Genómica El Proyecto Genoma Humano Medicina Genómica Medicina Genómica, genética e investigación Genómica y Sociedad
- 3. ¿Por qué es importante el genoma? El genoma contiene toda la información necesaria para todos los aspectos relacionados con: Embriogénesis Desarrollo Crecimiento Metabolismo Reproducción
- 4. ¿Cómo se organiza el genoma? Los genes, ADN, gracias a diversas proteínas (estructurales y reguladoras) están empaquetados formando los cromosomas. Excepto durante la división celular, la cromatina está homogéneamente distribuida en el núcleo.
- 5. Genética vs Genómica Genética: estudio de los genes y sus efectos (por ejemplo CFTR y la Fibrosis Quística) Genómica: estudio de TODOS los genes del genoma, incluyendo sus interacciones con los factores medio ambientales.
- 6. Genética, ¿el pasado? Enfermedades causadas por la presencia o ausencia de un cromosoma o región cromosómica Enfermedades causadas por mutaciones de un único gen
- 7. Carga Genética El 8% de las personas es diagnosticado antes de los 25 años de una enfermedad que tiene un componente genético Enfermedades Monogénicas 3.6/1000 Autosómicas dominantes 1.4/1000 Autosómicas recesivas 1.7/1000 Ligadas al X 0.5/1000 Anomalías cromosómicas 1.8/1000 Enfermedades Multifactoriales 46.4/1000 Anomalías congénitas 26.6/1000 Otras 1.6/1000
- 8. Enfermedad rara Es aquella enfermedad con una prevalencia de: 1/1350 (National Institute of Health) 1/2000 (Unión Europea) Entre las enfermedades denominadas raras, más del 80% presenta una base genética.
- 9. EFECTO DE LAS ENFERMEDADES DE BASE GENÉTICA Prevalencia en R.N. vivos de EBG > 2% 30-50% de los ingresos pediátricos Afectan a la seguridad reproductiva 5% de la carga de enfermedad en nuestra población Morbimortalidad perinatal, infantil y adulta Dificultad diagnóstica y retraso en el diagnóstico Suponen una gran carga social y familiar Esperanza de Vida. Calidad de Vida. Reproducción. Adaptación Individual, Familiar y Social.
- 10. Enfermedad con Componente Genético Localización del gen T ii e m p o T e m p o Proyecto Identificación del gen Genoma Humano Diagnóstico Función
- 11. Diagnóstico Genético y Medicina Molecular Presintomático Diagnóstico Consejo Genético Diagnóstico Prenatal Tiempo Tiempo
- 12. Síndrome de Wolf-Hirschhorn Región 4p16.3 Tel cen Exon 25a Exon 12b Exon 1 165 Kb WHSCR 90 Kb
- 13. Síndrome de DiGeorge/VCFS 22q11.2 cen Tel N25 D22S75 CLATHRI 3’ TUPLE 1 D22S553 D22S942 D22S609 N CTP LSI TUPLE 1 110 Kb
- 14. Fibrosis Quística Desequilibrio iónico por alteración del transporte del ion cloro lo cual provoca la formación de moco obstructivo en pulmones y páncreas y elevadas concentraciones de cloro en las secreciones sudoríparas. Enfermedad de herencia autosómica recesiva. Gen responsable: CFTR (Cystic Fibrosis transmembrane regulator) Localización molecular: 7q31 Alteración molecular: mutaciones en el gen CFTR
- 15. Análisis de las mutaciones mas frecuentes en Fibrosis Quística ∆F508 G542X G551D R553X 1717-1G>A N1303K R117H 621+1G>T W1282X 1078 del T R334W R1162X A455E 3659 del C 3849+10kbC>T D1507 S1251N R347P D1152H E60X 2183AA>G 711+1G>T 1898+1G>A 3120+1G>A 2184delA G85E 2789+5G>A I148T R560T
- 17. Amniocentesis
- 18. Cáncer hereditario ¿Cual es mi riesgo de desarrollar cáncer?
- 19. Genetic Susceptibility is NOT Health Destiny Genetics is just one piece of the “puzzle”
- 20. Factores que afectan a la penetrancia Genes modificadores Carcinógenos Otros Respuesta al daño factores del ADN No todo el que tiene un gen alterado desarrolla cáncer
- 22. PROVISIÓN DE SERVICIOS DE SALUD Prevención primaria y secundaria en enfermedades de base genética Resultados e impacto de los servicios de genética en pacientes y familias Validez y utilidad clinica de los análisis genéticos Bases de datos de pacientes Integración de la genética médica en la práctica clínica
- 23. QA IN GENETIC TESTING Life Science and Biotechnology - A strategy for Europe Second Progress report and future orientations (07/04/2004) Priorities for future actions by Commission and Member States • to engage in EU-wide co-ordination of efforts to ensure the highest quality of genetic testing in the EU and beyond EU-25, • to establish EU-wide networking of national centres for exchanges of information regarding quality assurance of genetic testing, including training activities, and EU-wide networking for genetic testing of rare diseases.
- 24. Enfermedad con Componente Genético Localización del gen T ii e m p o T e m p o Identificación del gen Proyecto Diagnóstico Función Genoma Humano Medicina Terapia Predictiva Farmacológica Farmacogenética Terapia Génica
- 25. Investigación en Genética Entender la Entender la respuesta enfermedad al tratamiento Individualizar el Nuevas Terapias tratamiento
- 26. Enfermedades complejas o multifactoriales
- 27. De la genética médica a la medicina genómica Identificación de factores Bases moleculares de Identificación y caracterización genéticos involucrados en la neoplasia endocrina molecular de nuevos loci de el desarrollo y progresión múltiple y el cáncer susceptibilidad para la enfermedad de de enfermedades medular de tiroides Hirschsprung y el cáncer medular de complejas familiar tiroides
- 28. Genética y genómica: herramientas disponibles Técnicas de detección de Técnicas de detección de mutaciones: SSCP, análisis de mutaciones: SSCP, análisis de heterodúplex, dHPLC y heterodúplex, dHPLC y secuenciación secuenciación Genotipación de marcadores Genotipación de marcadores microsatélites microsatélites Banco DNA Banco DNA Databases Análisis de SNPs mediante Análisis de SNPs mediante genotipación espectral y genotipación espectral y Herramientas Herramientas minisecuenciación minisecuenciación bioinformáticas bioinformáticas
- 29. “Family history is very genomic” --Sharon Kardia, Univ of Michigan • Shared genes, environments, behaviors,and their interactions The Family History Public Health Initiative http://www.cdc.gov/genomics/activities/famhx.htm
- 30. Perfil genético: preparados, listos, YA!!! Abra la boca y diga: ACGT
- 31. ENFERMEDAD METABOLOMA PROTEOMA TRANSCRIPTOMA GENOMA
- 32. medicina genómica? Historia Bioinformática Genoma Transcriptoma Proteoma Metaboloma clínica Datos del paciente seguros y confidenciales Análisis y cruce de datos en tiempo real • Diagnóstico individualizado • Prescripción mas eficaz • Mejores resultados en salud • Reducción de costes sanitarios Medicina Personalizada Consulta Médica
- 33. medicina genómica? (2020?) - Alzheimer Disease, for example 5 or 6 genetic variations identified that strongly predispose for Alzheimer disease; another 10 or 12 with weaker association Chip-based genetic test gives personal likelihood of developing the condition Chip-based genetic test identifies the drug most likely to be effective for given individual Chip-based genetic test determines individual likelihood of drug side effects
- 34. How Do Health Professionals Prepare for Genomic Medicine? Need to learn to “think genetically” - to: realize when genetic factors play a role effectively use family hx & genetic tests be able to explain genetics concepts deal with “risk” & genetic predisposition realize personal and societal impact of genetic information protect genetic privacy use genetics to individualize patient care use genetics to preserve health
- 35. Misperceptions “Genomics isn’t relevant to me or the area of public health in which I work” Did you know that … 9 of the top 10 causes of death in the U.S. have a genetic component?
- 36. Top 10 Causes of Death in the U.S. (2000) HEART DISEASE CANCER CEREBROVASCULAR DISEASE CHRONIC LOWER RESPIRATORY DISEASE ? ACCIDENTS/UNINTENTIONAL INJURIES DIABETES PNEUMONIA/INFLUENZA ALZHEIMER’S DISEASE KIDNEY DISEASE SEPTICEMIA
- 37. Misperceptions “There are no interventions based on genomics” It’s true, we can’t change our genes. BUT we can use this knowledge to …
- 38. Potential Interventions Modify screening and medical recommendations More Frequent Screenings Genetic Testing/Evaluation Interventions or Prevention
- 39. Potential Interventions Target messages and interventions aimed at changing behaviors of high-risk groups Diet Physical Activity Smoking Cessation Alcohol Avoidance Others?
- 40. Aspectos éticos Equidad Confidencialidad Uso adecuado de la información genética Investigación biomédica
- 41. ¿Cómo preparar a la sociedad en la era de la genómica? Educación e información accesible con los objetivos de entender: La base científica de la genética La utilización de la genética en la práctica clínica Riesgo y predisposición Como afecta la información genética individualmente El impacto de la genética en la sociedad
- 42. La desinformación genética Elija el sexo de su hijo, de forma natural. Al menos el 50% de las veces acertamos.
- 43. “To wrest from nature the secrets which have perplexed philosophers in all ages, to track to their sources the causes of diseases, to correlate the vast stores of knowledge, that they may be quicly avalaible for the prevention and cure of disease - these are our ambitions.” (William Osler, Montreal Medical Journal, 1902).
Notas del editor
- (click) Picture (click) The term “genetics” has been traditionally defined as the study of single genes and their effects. Think of diseases such as cystic fibrosis or Huntington’s Disease. People affected with the Huntington’s gene will get the disease no matter what lifestyle or environmental changes they make, at least at the current time. (click) However with emerging technology, scientists are now beginning to unravel the mysterious of the genome. The term “genome” refers to all the genetic material or DNA in our bodies. The Human Genome Project has accomplished a huge feat, sequencing the entire human genome. Scientists have also begun identifying the estimated 30,000 genes in the genome. This task was completed in April of 2003 and is predicted to bring about a tidal wave of new genomic information into all areas of disease prevention, including public health. Other information on the Human Genome Project: *Collaboration that began in 1990 between NIH and the U.S. Department of Energy *Goals 1) Sequence DNA of entire human genome 2) Identify all the genes 3) Create databases and tools for analysis and sequencing 4) Address the ELSI surrounding this project *Genome sequenced with an accuracy of 99.99% with less than 1 mistake every 10,000 letters!!! *Within the human genome, it is estimated that there are 3 billion base pairs of DNA and 30,000-100,000 genes
- (click) (click) Picture ACTIVITY: Puzzle Pieces Let’s think of this like a puzzle. What factors can cause disease? Possible Answers: *Genes or genetics *Diet *Toxins *Immunizations *Safety (violence, etc) *Air pollutants *Smoking *Level of physical activity Have the group put together the above puzzle pieces with “genetics” in the middle of the completed puzzle. (click) As you can see genetics is just one piece of the puzzle. There are lots of things that can cause disease, including genetics. It’s important to remember this in our activities. We can’t ignore the genetic component of disease in our planning, just like we can’t brush aside the environmental factors either.
- Genoma: Todo el ADN de un organismo Transcriptoma: Todos los transcritos, ARN, de una célula, tejido o de un individuo. Proteoma: todas las proteínas de una célula, tejido o individuo. Metaboloma: Todos los pequeños componentes de una célula, tejido o individuo producidos por el proteoma.
- Now that we have some idea of how genomics can apply to us, let’s discuss some of the misperceptions we may have on genomics. These are important to recognize because it may help us address barriers associated with integrating genomics into public health activities. (click) The first misperception is that “Genomics isn’t relevant to me or the area in public health in which I work”. Genetics has been linked to areas such as newborn screening and children with special health care needs for decades. But what about common, chronic diseases such as heart disease, arthritis, cancer, and diabetes? These diseases affect a large proportion of people each year both in terms of mortality and morbidity. (click) Well did you know that 9 of the top 10 leading causes of death in the U.S. in 2000, have a known genetic component?
- Let’s take a look at this list closer. We all know that these diseases all have significant public health impact. How might genomics relate to Accidents/Unintentional Injuries? Are genes involved in accidents? Possible answers: *Nearsightedness or color blindness are genetic. These may be a factor in car accidents. *Preliminary studies that might show a genetic predisposition to risk taking behaviors, suicide tendency, or violence.
- (click) How many of you have felt this way or have heard someone else say “There are no interventions based on genomics”? (click) While it’s true that we can’t change our genes, we can do things to our modify behavior and surrounding environment to prevent disease. For example …
- (click) Picture (click) Genomics can help us make appropriate screening and/or medical recommendations. We can use genetic knowledge to recommend more frequent screenings for patients at risk for breast or colon cancer. We can also provide referrals for genetic testing or evaluation with a genetic counselor for families at risk from these cancers. This might help identify other family members or target populations at risk for disease who would benefit from public health interventions and prevention programs. Perhaps genetic knowledge will indicate additional screening guidelines are needed for certain individuals or families. This could also indicate messages or additional interventions are needed to effectively target at-risk populations.
- (click) Picture (click) Genomics may also help us target public health interventions or messages aimed at changing behavior more effective. Knowledge about increased genetic susceptibility for certain diseases in the population might allow us to stratify individuals into risk categories. Individuals at high-risk for let’s say diabetes, would then benefit greatly from targeted interventions aimed at increasing physical activity levels and eating a healthy diet. Genomic-based interventions may also be more effective because of the personal nature of the message. For example, people with a family history of lung cancer might be more inclined to avoid smoking based on this knowledge. Nutrigenomics is beginning to come forward. This will help dieticians make individualized diets for those suffering from obesity or other disease. How will this change public health messages? Perhaps certain ethnic groups will benefit from individualized diets, the possibilities are endless and will need lots of revision, discussion, and evaluation! What other similar examples can you think of? How might genomics change current interventions or messages? Will this increase a person’s desire to change behavior based on a family history of disease? Will this knowledge then motivate people to modify their behaviors or their surrounding environment?