Biología Molecular aplicada al Diagnóstico Médico Módulo I: Clase 1. Introducción al curso Dr. Martín Vázquez Círculo Médico de Rosario

Transcription

1 Biología Molecular aplicada al Diagnóstico Médico Módulo I: Clase 1 Introducción al curso Dr. Martín Vázquez Círculo Médico de Rosario

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3 the last ten years ,000 b day 1 equipment 18,000,000,000,000 b day 1 equipment human genomes day 600 human genomes day 100,000,000 USD 1,000 USD

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5 Biological interpretation (social, legal issues) at the backend Technology at the forefront

6 Big Data in genomics Data is not the limit Data Scientists The right question at the right time IS the limit

7 Genomics route to the clinic Research Clinical Diagnostics

8 DRA_SCHWARTZ/ GETTY Genomics route to the clinic NATUREJOBS For t he latest career listings and advice NATUREJOBS For t he latest career listings and advice medical and psychological implications of medical and psychological implications those results. of That includes helping people to those results. That includes helping respond people to proactively to findings for example, for genetic exam- counsellors often encourage early respond proactively to findings ple, genetic counsellors often encourage early cancer screening for women who cancer have screening a for women who have a BRCA1 mutation that strongly elevates BRCA1 their mutation that strongly elevates their risk of breast cancer. risk of breast cancer. The ranks of genetic counsellors The have ranks of genetic counsellors have swelled in recent years. Throughout the swelled in recent years. Throughout the United States and Canada, there are more than 3,500 licensed practitioners, according United States to and Canada, there are more than the American Board of Genetic Counseling 3,500 licensed practitioners, according to (ABGC), the certifying organization the for American these Board of Genetic Counseling two countries. And at least another (ABGC), 300 work the certifying organization for these in the United Kingdom. But there are more jobs than eligible candidates: a 2012 two assessment from the US Bureau of Labor in Statistics the United Kingdom. But there are more countries. And at least another 300 work deter mined that prospects in the jobs field than are eligible candidates: a 2012 assessment the average from the US Bureau of Labor Statistics growing much more rapidly than for other occupations. deter mined that prospects in the field are FROM LAB TOCLINIC growing much more rapidly than the average A genetic counsellor s job straddles for the other fields occupations. of biology and psychology, and the position draws many scientists who are looking FROM beyond LAB TOCLINIC the bench. When people apply to geneticcounselling programmes, their letters A genetic typically say, I love genetics, but the of lab biology isn t for and psychology, and the position counsellor s job straddles the fields me I want to be at the people end draws of things, many scientists who are looking beyond says Austin, now a genetic-counselling the faculty bench. When people apply to geneticcounselling programmes, their letters typi- member at her alma mater and the incoming president of the US National Society of Genetic GENETICS Counselors. cally say, I love genetics, but the lab isn t for Those who wish to pursue the career me need I want to be at the people end of things, a master s degree in genetic counselling says Austin, and a now a genetic-counselling faculty certification or licence to practise. Professional Fluent in DNA member at her alma mater and the incoming societies administer such certification in Australia, North America, Japan, South president Africa and of the US National Society of Genetic GENETICS the United Kingdom; in mainland Counselors. Europe, As genomics migrates to the clinic, job options are emerging individual programmes handle licensing. Those who wish to pursue the career need for genetic Fluent counsellors to explain the meaning DNA in mutations. Worldwide, graduate programmes a emphasize master s degree in genetic counselling and a a similar foundation of genetic-literacy and certification or licence to practise. Professional counselling skills paired with hands-on experience in the clinic. Training focuses societies on the administer such certification in Aus- BY MICHAEL EISENSTEIN degree, she enrolled in a master s programme J in genetic counselling at the University of situations that most commonly require tralia, genetic North America, Japan, South Africa and ehannine Austin spent years the British Columbia Vancouver, Canada. counselling, including hereditary cancer the United risk, Kingdom; in mainland Europe, laboratory As bench genomics developing techniques migrates Clinicians to the routinely clinic, recommend job options genetic prenatal are diagnosis emerging of birth defects individual and earlyonset or developmental disorders in children. programmes handle licensing. for detecting genetic mutations, and was tests as part of diagnosing disease and predicting disease to explain risk, but many people the meaning find it hard The in first mutations. genetic-counselling programme well into her for PhD programme before counsellors dissatis- Worldwide, graduate programmes emphasize a similar foundation of genetic-literacy and DRA_SCHWARTZ/ GETTY CAREERS CAREERS TRANSITIONS From building houses to FUTUREPLANS Three steps to prepare for the building molecules p.153 next five years go.nature.com/bpd1rc FUTUREPLANS Three steps to prepare for the next five years go.nature.com/bpd1rc TRANSITIONS From building houses to building molecules p.153 Genetic Counsellor Is the next big thing in hot professions