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Mini Med School XI - Clinical Genomics

Human genomics - what you need to know
- Jan Friedman, Samuel Aparicio, Neal Boerkoel
New genomic technologies such as next generation sequencing (NGS) and high throughput SNP genotyping are now being used extensively in research studies of genetic disease. Furthermore, rapid advances in these technologies are allowing costs to come down at an incredible rate. Soon these technologies will have not only RESEARCH applications but practical CLINICAL applications as well. Learn how they work and what kind of testing you may be offered next time you’re in the doctor’s office!
Your questions answered
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Genomics and medicine - should you be afraid?
- Anita Ho, Nancy Makela, Shelin Adam
While the development of new genomic technologies offers the promise of identifying mutations that underlie many diseases, this same technology is also likely to uncover many unexpected genetic changes that have important medical or social implications unrelated to the disease for which the testing was obtained. What are some non-technological issues around genomic testing (parental/ethical perspectives), and what should be done with these unexpected findings?
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A genomics revolution - personalized medicine
- Colin Ross, Clara van Karnebeek, Carlo Marra
Envision the medical system in a few years, when doctors will use information from a whole genome scan to predict those individuals who will be at increased risk for certain conditions, or to diagnose individuals. They will then be able to determine a course of treatment specific to each person, or choose a drug that will be most effective and have the least adverse effects for that particular person. Discover the reality today and the potential for tomorrow.
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Metagenomics - the microbes in you
- Rob Holt, Patrick Tang, Stuart Turvey
Did you know tiny organisms you can’t even see, live in us, on us and with us? Some of these are very useful to us, and perform important roles in our bodies. But sometimes this delicate balance is disrupted and this can cause disease or ill health. We have had difficulty in the past studying these microbes. Metagenomics is a powerful new technique for identifying microorganisms in biological samples using genomics, and thus has the potential to revolutionize our understanding of the microbial environment within us.
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Your questions answered
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Now that I know what should I do? Up, close and personal with Genetic Counsellors
- Christele du Souich, Susan Creighton
There are many social, familial and ethical issues related to genetic testing, including who has access to genetic testing and the results that are generated, how the information is used and stored, and how we prevent possible discrimination on the basis of genetics. There are also issues around testing minors and within families where finding the best solution for everyone isn't always easy. You will get a chance to delve into your own family history and if you wish to discuss it with a genetic counsellor.
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The great debate - buying genetic tests on the web
- Tracy Tucker, Millan Patel, Sylvie Langlois
Traditionally, genetic tests have been available only through healthcare providers such as physicians, but now direct-to-consumer genetic testing is becoming readily available. This form of testing refers to genetic tests such as those for ancestry, health and paternity testing that are marketed directly to consumers via television, print advertisements, or the Internet. Consumers are notified of their results by mail, over the telephone, or posted online, and may never see a health professional. A spirited debate on the many benefits and concerns around direct-to-consumer genetic testing will be followed by an interactive discussion on the topic.
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| Course Glossary |
Sponsorship provided by the BC Clinical Genomics Network

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Film Competition |
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Wanted, short film depicting the life of a CFRI research trainee |
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