Review: Challenges of Personalised Genomics Information for Health Management

The paper reviewed here is ‘From Utopia to Science: Challenges of Personalised Genomics Information for Health Management and Health Enhancement’ by  Hub Zwart, Professor of Philosophy and which is freely available here. I thought it would be interesting to look at this paper because the sequencing of human genomes is becoming increasingly accessible as sequencing technologies improve. Zwart addresses the use of information from the genome and gene therapy. I was particularly interested in the former. Zwart broadens the initial part of his inquiry by examining various forms of biotechnology and referencing Huxley’s classic ‘Brave New World’. He raises some intriguing questions about the evolution of culture and a move away from anthropomorphism. After reading this paper, there were a number of questions that seemed to suggest themselves.

What happens if a person has access to their full genome sequence outside of the medical environment?

Speculating, there are a number of possibilities

– A person will respond appropriately to this knowledge. The appropriate response will vary according to context. Having this level of information is unprecedented and it will take some time to identify what an ‘appropriate’ response is. For instance, it might be usual for a person to have an initial period of focusing on the information followed by a sharp decline in this focus but research will be needed to characterise this response.

– A person might become overly anxious about having this information. Even if they have no known illness disease  related alleles, they might anticipate further information becoming available about their alleles. The information might be incorporated into a prior somatoform disorder. I did a quick medline search combining ‘genetic counselling’ and ‘somatoform’ which produced one reference which didn’t seem too relevant. However a more detailed search might have picked up some relevant papers.

– A person might feel a loss of control if they are found to have a predisposition to a certain illness. Indeed this has been well explored and genetic counselling has been utilised for a number of genetic conditions. Outside of a supportive medical environment if a person learns of newly identified relationships between their alleles and specific diseases they might be unable to judge the appropriate risk.

– There may be a number of reasons why the information may be more complex – genes are differentially expressed in different tissues, there may be small inaccuracies in a genome sequence, the interactions between gene products may be more important than having the disease allele.

How will Health Services respond to Personal Genomics?

While this isn’t the case at the moment, it wouldn’t be too unreasonable to suppose that in 10 years time, a sizeable proportion of the population will have access to their genome sequences. People might approach health services to help them interpret this information. Thus there might be an increasing role for geneticists in managing this aspect of healthcare although this will depend on health service configuration and responses. Additionally primary care may develop specialised services for managing this aspect of healthcare. Within mental health services there may be a role for prevention although any service responses would need to be evidence based. Various studies have identified degrees of risk associated with specific genes but also emphasise the importance of the environment.

How will this impact on culture?

If a person has information to about their genome sequence then one important question is how will this influence their relationship with others? Obviously this will become exceedingly complicated and there will be countless examples that could not have been anticipated. There are a number of broad possibilities. Many people will want to keep this information private as with other aspects of their healthcare information.  Others may advertise this information to others if they think it will be to their advantage and certain self-selected ‘types’ will be known by the genes they do or do not have and it may therefore confer an additional layer of identity.  Many aspects of an emerging genomics culture have been examined in the film ‘Gattaca‘. This information may combine in complex ways with other technologies such as the internet.

One thing is clear and that is that this field will need to be regulated and the ethical implications engaged in ongoing debate.

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