Should you get your genome sequenced?

July 6th,2017

For people that would like to get their genome or exome (the subset of the genome that mainly deals with protein encoding genes only, about 1% of the genome) sequenced, some interesting questions are raised.

One can get very simple consumer driven genomic listing done by a group like 23andme.com for about £149. Or one can pay £1,000 and upwards to have your full genome sequenced. The 23andme listing can identify some traits and characteristics, perhaps identify relatives, and your percentage of Neanderthal and so on. It may also identify things to watch out for, like your proclivity to Alzheimers (APOE3 and APOE4 gene mix).

However what they, and others, do not tell you is that genes can be switched on or off, or “expressed more, or expressed less”. This is called epigenetics (Greek “epi” means “over”), and means that you could have a gene that has a terrible effect, but it is turned off, so you never be afflicted by that ailment.

So until they learn how to read the genes and whether they are turned on or off, and then how they can turn them on or off, one must wonder how much use having your genome / your genes read will be. For some it however may provide comfort if you do not have a gene that is known to cause issues eg the BRCA2 gene, for breast cancer, which Angelina Jolie apparently had and took drastic action to prevent the likelihood of her getting breast cancer.

Craig Venter, San Diego based, who first sequenced the human genome, has an organisation in San Diego called Human Longevity Inc (HLI) http://www.humanlongevity.com/ and the Health Nucleus https://www.healthnucleus.com/ . They will sequence your genome, and also add to it a full battery of tests, eg MRI, analyse your microbiome (your gut bacteria that can have a big influence on your health), and metabolome (see below), all looking for health issues or clues to what you should be doing to be in full health. Looking holistically, ie at the whole person, is IMHO the right way to go .

The cost of the analysis aside, getting all of this done may provide a good baseline for comparison to in later years. However one cannot help thinking that all of this is very early days, and so much has yet to be learned and discovered, so unless you are extremely flush with cash or a very curious person, or perhaps very ill and trying to find out what is wrong with you, it may pay to wait a while until more is learned.

(Metabolomics is the measurement and analysis of metabolites in your body. Metabolites are small chemicals such as sugars, fats, hormones, signalling molecules, and intermediate and end products of the processes and biochemical reactions that take place within your cells, or from bacteria in your gastrointestinal system. Your metabolites gives a direct functional readout of your physiological state. Analyzing metabolites can assess physiological imbalances that are the precursors to disease. The complete set of metabolites is referred to as the metabolome. A blood draw is needed for metabolomics analysis).