DNA Day experts answer your questions about genetic testing

Above: Image © InkaOne, iStockphoto.com

In what areas is DNA testing used?

We DNA test for carrier status of specific disease causing genes. In animals we can screen for low fat body mass. We can test DNA for diseases ( cystic fibrosis) for treatment options. We now using DNA barcoding to determine food inspection. SO that we know what is being transported and eaten is what the packaging says it is.

- Answer provided by Dr. Dennis McCormac

What type of test is performed on DNA for certain diseases?

For genetic diseases it would be DNA genetic test ( cystic fibrosis genetic test would look for mutations in the CFTR gene) . For metabolic disease, we would look for a metabolite. Sometimes we will look at chromosomes to see of they are irregular which could lead to developmental delays. Looking at chromosomes under a microscope helps us diagnose Trisomy where you have an extra chromosome.

- Answer provided by Dr. Dennis McCormac

I have have my DNA tested by a US company--out of pure interest. I personally see issues with people having this information-without medical oversight and counselling - my hypochondriac cousin, for instance. How long do you think it will be before this technology is more easily accessed for preventative patient care?

Two tricky questions: first, in my mind counselling is ABSOLUTELY necessary. What if your screen showed that you were at risk for Alzheimer's? And not just you - what impact might that have on your kids? To your second point: I think it's inevitable that this will open up dramatic changes in patient care. Call it 'personalized medicine" if you want ...

- Answer provided by Jay Ingram

What level of genetic testing analytical validity (accuracy of the test result), clinical validity (use of the test as a diagnostic tool), or clinical utility (use of test result for treatment) should be required for tests offered to the public?

Obviously tests should come with confidence estimates of false +/- rates to determine their reliability. If the tests lack utility, they probably would never make it to market -but ultimately, demand drives commercialization in capitalist economies.

- Answer provided by Dr. Robert Hanner

What is your take on genetic testing? Should individuals have access to their genome?

I haven't thought about this a whole lot, but my first impression is that no one should be able to hold back an individual from obtaining their own personal DNA sequence. The problem arises when others start telling you what that DNA sequence means. How reliable is that information? Might you take drastic actions if you are told about your risk of a particular disease? Here's a good blog on the topic: Law & Biosciences Blog - Hank Greely - http://explorecuriocity.org/Explore/ArticleId/%22http://blogs.law.stanford.edu/lawandbiosciences/tag/hank-greely/%22

- Answer provided by Dr. Sean Myles

Are the genetic test done with nasal swabs on cattle worth it? What exactly can they tell a rancher?

yes they are worth it. There are genes and genetic determinants in your DNA that can make you bigger, more muscle mass so if you are looking for breeding potential then DNA is the way to do it.

- Answer provided by Dr. Dennis McCormac

What stage are we at with personalized medicine using genetic testing/screening?

So, personalized medicine has many different aspects, but there are certainly great advances in research to better diagnose the specific genetic aspects underlying certain conditions and to be able to better tailor the treatment. There are significant advances in cancer. But, we are not at a point where genetics is relevant for every patient that comes to a medical clinic for screening that would detect an underlying medical condition, or test to validate whether the patient has a certain disease.

- Answer provided by Karine Morin

Can you test for a gene that determines if a child will suffer from brittle bone disorder?

- Answer provided by Kofi Adasi

Do genetic counsellors use pedigrees?

yes they do that's how they determine risk associated with specific traits.

- Answer provided by Dr. Dennis McCormac


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