What is Genetic Sequencing?

Gene Therapy

Published in the July 2014 edition of Boomer Times & Senior Life (page 16):

We are all the product of our DNA! In the book Defy Your DNA, the structure of this remarkable molecule is described. Long strands of DNA make up all of our genes, which are then packed on to our 23 pairs of chromosomes, which reside in the nucleus of every cell of our body. The sequence of four letters in these long strands of DNA, millions of letters long, controls every thing that we are.

When the Human Genome was first sequenced in 2000, president Bill Clinton called it “Without a doubt, … the most important, most wondrous map ever produced by humankind “. A map is a good analogy. As we learn to study this map we can see how we can get from A to B, from birth to death, and what towns and cities (diseases and issues) we will need to pass through along the way.

With this map of our genes, doctors can now anticipate what diseases we may get (often the result of multiple genetic risk factors) or what diseases we will get, in the case of diseases caused by a specific mutation.

Each year the cost of generating a personal map of our DNA is falling. The speed with which this map can be produced is increasing and sophisticated technology developed to detect faulty genes. In parallel, the ability to put all this data together and give us the opportunity to make informed decisions about our future health is advancing.

Getting our genes tested may not be for everyone. Not yet – but one day it will replace the heel prick test that babies currently have at birth to detect a small number of important genetic diseases. And the test will not even involve taking blood – just a swab of the inside of a baby’s cheek.

Genetic testing can allow us today to make important life choices. This was highlighted by Angelina Jolie who found she had inherited the genes for breast cancer and opted for a double mastectomy. Not all decisions will be so radical, but involving your trusted physician in this process will help you make the right decision for you. Most genetic testing today does not look at every single one of your ~25,000 genes, but a small subset – often several hundred – that are known to be associated with specific diseases.

If you have a disease in your family, or if you think you have early signs of a disease, then that should trigger a conversation with your doctor. If you have already been diagnosed with a disease and you want to find out which genes caused it that too should be a discussion with your doctor. Your doctor can help you gather more information than ever before through genetic screening about which path you should follow through your life to remain healthy. The choice to follow that path is still yours but today’s genetic testing empowers you to choose the best route.