Genomics and medicine - should you be afraid? Q & A

Q: Where are genomic testing services provided? Are they only provided in more developed countries such as Europe, Canada and the USA or are they also available in less developed countries like Asia? Genomic testing services seem to be a race between more developed countries like the space race of the 60's, is this true? Competition of development?

A: Genomic testing is available in varying degrees in many countries in the world. In general, countries that are still struggling with providing basic healthcare to all their residents are less focussed on developing genomic technology, however others like India and China have developed some huge and very productive genome sciences centres that are being utilized by investigators in many other countries. There is some competition to develop these new genomic testing services. This is sometimes driven by the desire to be the first to make new discoveries and sometimes driven by large pharmaceutical and technological companies because there are financial implications for them.

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Q: How long has the study of genetics been around and how long have scientist been able to sequence genes?

A: Genetics can be said to have started in 1866 when Gregor Mendel published the results of his investigations of the inheritance of "factors" in pea plants. Thus, genetics is not a new area of science. The first DNA sequences were obtained in the early 1970s by academic researchers using extremely laborious methods. But it was in 1995 that a team of researchers managed to complete a genetic map of the bacterium Haemophilus influenzae, which was the first map of the complete genome of a free-living organism.

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Q: How do institutes ensure no errors in diagnosis?

A: Although much effort is invested in reducing errors during genomic testing, there are 2 possible types of errors. The first is sample mix-up. To try to reduce this type of error, samples are barcoded at the beginning of the testing process and that code is checked and verified at each step of the process. Sometimes the staff ID is recorded against each step as well. Furthermore, internal controls are utilized like knowing the sample is from a male and ensuring that genetic material from the Y chromosome (the “male” chromosome) is seen in the results, or ensuring that when an entire family is tested that the results are congruent with the familial relationships.

The second type of error is the error inherent in a particular test. While the industry strives to be as accurate as possible, not every test is 100% accurate. One of the ways that this is dealt with in sequencing is by having many-fold coverage of a sequence so that each one can be checked against each other for accuracy.