Personalised Genome: The Good, the Bad and the Ugly

As new age technology, such as high-throughput sequencing and nanopores, slashes both costs and time needed for genomic analysis, the age where commercialisation of individual one thousand pound gemones dawns. With its inevitable manifestation around the corner, it has never been more pressing to assess impacts, both social and clinical, so that we can truly be prepared for the changes in how the genetic world interacts with everyday life.


As 10,000 new germline mutations are identified annually, and 300 new inherited disease genes highlighted, personalised genomic sequencing could be used to locate, monitor and understand further disease-associated mutations, though this will only be possible if the data is in fact made public. Inheritance of disease will be better understood, which is a very exciting prospect for potential parents, as current prenatal tests only identify a fraction of potential defects. Currently personalised genome sequencing is used for prenatal and preimplantation genetic testing of conditions such as Turner’s syndrome and muscular dystrophy; however these tests are currently available only to high risk children. With the potential commercialisation of sequencing, testing may be readily available to everyone, undeniably changing the way in which these tests are implemented and as with most change, the line between it being positive and negative lies thin.

‘All creatures would agree that it was better to be healthy than sick… well fitted than ill fitted for their part in life; in short that it was better to be a good rather than a bad specimen of their kind’ – Galton

Global screening of embryos for disorders could lead to self directed human evolution, in other words, eugenics. The risk of profitable ‘designer babies’ could lead personal genomics to encounter ethical scrutiny, therefore a balance will have to be struck:

‘Given the power and the authority granted to parents to seek to improve or better their children… at least (by) some forms of genetic selection or alteration (it) seems equally ethically defensible if they are undertaken freely and do not disempower or disadvantage their children’ – Galton

Certain countries have banned inappropriate preimplantation diagnosis, such as that for sex selection in the UK.

After heart disease, cancer and stroke, adverse drug reaction is the fourth most common cause of death for americans, the fast growing field of pharmacogenetics will find genomic profiles vital in the production of personalised medication. Not only would personalised medication reduce deaths from undesirable reaction, but these tailor made gems would benefit both diagnosis as well as treatment efficiency. While focusing on disease, it must be said that it’s susceptibility is complex, often involving multiple genes, with a partial influence of environmental exposure to certain substances, such as carcinogens. Shedding light on perhaps a limitation of sequencing is the reality that it is not likely to have a great deal of predictive power; a study analysing over 53,000 pairs of monozygotic twins for the incidence of 24 diseases, ranging from autoimmune to obesity associated diseases and cancer, implied 2% of women undergoing whole genome sequencing would have mutations linked to ovarian cancer detected; at least a one in ten chance of developing ovarian cancer. However, the remaining 98% having found no mutations would still be at a 1.4% risk, that of the general public; it would be fair to say that the day when sequences produces infallible figures is a while away.

Unfortunately sequencing may also reveal to patients more than they were prepared to know, diagnosing age-onset, incurable diseases such as Alzheimer’s disease. And once the diagnosis has been confirmed, who else has the right to know? New guidelines issued by the UK GMC allow disclosure of patient information, given the diagnosis of a genetically heritable disease to family members if it is ‘justified in the public interest’. Genetic availability dawns a problematic issue as the UK lacks a counterpart to the USA Genetic Information Nondiscrimination Act.

There also remains the risk of people missing out on potentially life-saving intervention; as genomic sequencing enable quick, cost-efficient diagnosis and family history has long been collected as a means of assessing risk, individuals may not get tested in the fear of employment and insurance discrimination. Although comfort can be taken in the fact that the US Department of Energy and the National Institute of Health devotes 3-5% of their annual Human Genome Project budget towards studying the ethical, legal and social issues surrounding genetic availability, illustrating how research into the issue is currently active.

Sequencing potentials are astounding; from revolutionising diagnosis of disease to screening embryos for chromosomal abnormalities. Personal genomic sequencing allows useful deviations from the reference genome to be analysed. In turn, these incentivise an increase in the sophistication of modern technology. The ethical issues of pharmacogenetics, eugenics and social discrimination dawn as a result of personal genomic sequencing; although there is evidence that research is going towards investigating problematic issues, with rules and regulations already in place. As time progresses, so will our knowledge, all that remains is the hope that we are prepared for the double helix’s dormant revelations.

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About Sumaya Anwar

Sumaya Anwar is a student of biological sciences at UCL, with a special interest in genetics. Having previous experience as a broadcast journalist, producer and researcher, she now actively works as a presenter and writer. An outgoing, sociable person, she is always interested in finding out others opinions in the pursuit of seeing an issue from every angle. This is reflected in her writing, with a versatile style that would suit a multitude of different topics. Holding a strong belief that a combination of ambition and hard work make anything possible, Sumaya perseveres to make science assessable as well as understandable to everyone.
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