Genetics, mcb, and biochemistry society
Having your genome sequenced is now as simple as getting an X-ray. Individuals can have their genetic material sequenced for a whole host of reasons. For example, checking for familial defects, precautions in cancer development and some couples even go as far as checking for genetic defects before having kids. As accessibility improves, is this procedure in danger of becoming too easily prescribed and does it pose a danger of creating a paranoid population?
Genome sequencing is now a very accessible as it has become much cheaper in the last few years. Families with suspected genetic defects can be sequenced to analyse their risk factor and help them in family planning. Now more than ever before, physicians are referring patients for genome sequencing to assess cancer risk in the hope of pin-pointing mutations involved in cancer development .
The question being asked is whether seemingly healthy individuals should be sequenced. Justifications for sequencing healthy individuals assert that if you find that one thing in a few individuals, that information could be used to help a much bigger population . bottom line is that knowing more can never be a bad thing. The concern lies with the physicians. The MedSeq project sequenced the genomes of 50 random patients and also took a full family history report. Upon completion of sequencing, 5000 disease associated genes were found per patient alongside 5 million genetic variants per patient . These huge figures were eventually whittled down by a clinical laboratory team who ended up with 200-3300 genetic variants per patient, much less than the initial 5000. This raises an interesting point, if so much filtering and vetting needs to be done post sequencing is it really time for physicians to be doing this sort of work so soon. Results could take weeks to come back and would require expert analysis by genomicists.
There is also the question of causality. Many people hold what would be classified as mutations or genetic defect that will have absolutely no pathogenic effect. Given the intimate relationship people can now have with their medical condition, we run the risk of having an over sequenced and paranoid population.
On the flipside, whole genome sequencing has revolutionised the way we approach certain diseases. It is a wonder of the 21st century and will continue to hone and develop our knowledge of how our genes and diseases interact. In terms of the rate of sequencing among healthy individuals only time will tell. And with compulsory sequencing being whispered in some corners of the health insurance industry, this issue is surely not done with.
 Vassey J et al (2017) The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. AoIM.