Could He Be Conscious? Part 1

Sciknow

A patient with severe brain injury lies in a hospital bed, on life support. He shows no outward sign of consciousness, and the level of brain damage this person suffered, and subsequently his prognosis, is unknown.  He is diagnosed as being in an “Unresponsive Wakefulness State” (UWS), the politically correct term that has replaced the more familiar but unpalatable “vegetative state”.

Ultimately, this patient’s life hangs on the decision to prolong or end his life-support. Whilst already an emotionally and ethically difficult situation for the family, the possibility that this patient might in fact be conscious and unable to reveal his awareness to the outside world makes the effort to reliably detect consciousness a vital mission for the clinician in charge. But it is gruellingly difficult because there is a long way to go with detecting consciousness accurately: alarmingly, in one study, researchers found that up to 41% of patients who were initially deemed to…

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Bioethics; UK Cancer Patient DNA Mapping Project to Proceed

At the beginning of 2013, I wrote a bioethics-assignment report about a planned scheme to create a genetic database of cancer (and “rare disease”) patients’ DNA in the UK, announced in 2012 by the BBC news and Cancer Research media. It is a topic laced with ethical and practical issues, which has subsequently captured my ongoing interest. Whilst in my discussion I focused on the cancer-treatment aspect of the topic, the ultimate aim of the project is to allow personalised treatment of patients with rare diseases as well as cancers. 

At the time of writing, the available details about the proposed plans were scarce, however in July 2013 a government press release confirmed further details of this planned project (https://www.gov.uk/government/news/dna-mapping-to-better-understand-cancer-rare-diseases-and-infectious-diseases). Allegedly, whole genome screening has not yet begun; as of 20th Dec 2013, blood samples from five “rare-disease” patients have been screened, but the plan is to map thousands of genomes over the next five years. A new Department of Health organisation, Genomics England (http://www.genomicsengland.co.uk/), has been established for regulating this project, and can be followed on Twitter: https://twitter.com/GenomicsEngland

Whole-genome sequencing;

obstacles and opportunities of mass-mapping Cancer.

Author: Rebecca Hock (February 2013) 

BBC news clip: “DNA mapping for thousands of cancer patients”: http://www.bbc.co.uk/news/health-20666736

Summary:

For the first time, a large-scale project aiming to sequence the entire genomes of patients with cancer and other rare diseases has been planned in England. The results should generate genetic databases that will allow researchers to identify patterns in the genetic mutations associated with the diseases. This will potentially accelerate and expand on the production of personalised therapies targeted at individual patients.  The scheme aims to sequence the DNA of up to 100,000 volunteers, but when the project will begin is not yet confirmed. Although sequencing has already identified a few gene mutations that could be specifically targeted for therapy, due to the falling expense of DNA mapping, this will be the first project in the world that involves cancer-sequencing of patients’ entire genomes on mass-scale. With a cost of £5000 to £10,000 per genome at the time of planning, the British government is investing £100 million in this research (see fig. 1).

Commentary

The main ethical and practical concerns revolve around the usefulness and privacy protection of the genetic data that will be generated from this study. Other issues arise from the practicality and feasibility of making personalised medicine an accessible treatment option for patients.

Proponents of the project state that being able to compare the genetic profiles of a huge number of patients, lead to greater understanding of the disease, and will allow more efficient treatment that targets the particular needs of the individual patient (Walsh, 2012; Kalia, 2013). Personalised therapies would be tailored to the particular genetic profile of an individual with a particular type of cancer. However, the development of such therapies is still a distant objective; while the sequencing project itself will take an undefined number of years, the subsequent research into therapies using the generated data is expected to produce tangible therapeutic results in a few decades’ time, benefitting at the earliest the next generation of cancer sufferers (Walsh, 2012). This may therefore cause concerns that the current generation of cancer patients, including the participants of study, will not personally benefit from it.

Coupled with this is that, due to the sensitive nature of collecting genetic information, the scheme will rely on obtaining enough volunteers to supply their DNA (Walsh, 2012). That of course will have practical implications. Furthermore, successfully collecting enough participants will depend upon the critical issue of privacy. Recent discussions have been made about whether traditional medical confidentiality can be applied in this new area of genomic-healthcare research, given that the very nature of DNA allows an individual to be identified from their genome alone (Lunshof et al, 2008). Genetic information is considered highly sensitive compared to other medical information, as it reveals a person’s predisposition to various traits (Beauchamp and Childress, 2009). Therefore a common concern with collecting such information is that, if not kept in strictest confidence, it could be used by, for example, insurance companies to discriminate against participants and their relatives (Walsh, 2012); in this case particularly, given the hereditary links in many types of cancer. A related ethical concern is that of respecting the individual’s autonomy; their control over the use of their personal data (Beauchamp and Childress, 2009). This concern is reduced by using only volunteers’ information, thus obtaining participants’ informed consent for the use of their DNA.  Nevertheless, such concerns can be enough to discourage potential volunteers (NHGRH, 1998). To gain enough volunteers, significant changes to public perception of these issues will need to be encouraged (Bell, 2012).

Figure 1- “Plummeting” cost of whole genome sequencing (National Human Genome Research Institute, [online at www.genome.gov ] updated Oct 29, 2013)

cost_per_genome_apr

Another potential issue may be that of the justice of personalised therapies; that, once developed, they will only be available to those patients who have enough financial funds to buy them. However, as with the concern that the project will cost a lot of money, it can be argued that the decreasing cost of genetic screening will be hopefully associated with cheaper drug development, with the aim of making personalised treatments affordable to everybody (Ruiz et al, 2012). In the UK, this would require such treatments being made available on the NHS. Reforms to the NHS would be required to prepare it for “taking the lead” in the genetic healthcare “revolution” (Gallagher, 2012). As a healthcare system, this would therefore require improvements to the NHS’s infrastructure to incorporate large-scale genomic healthcare, for instance by retraining healthcare providers like GPs and nurses in genetic therapeutics (Bell, 2012; Robertson, 2003).

At the moment much of this is still futuristic, and will require time and money, however moves are already being made to prepare the NHS in training and infrastructure; for instance with the establishment of the UK Genetic Testing Network to support the NHS in delivering small scale genetic tests (UKGTN, 2013).

There is much potential for genetic screening to greatly improve current understanding of the vast variety of cancers via revealing the specific mutations associated with each disease; as demonstrated recently by a study that sequenced tumours from over 2000 women and discovered that breast cancer may be classified as at least 10 diseases based on differing genotypes (Curtis et al, 2012). Results from this particular study will take 3 years to become useful in the clinical setting (Walsh, 2012), but at least the opportunity exists for genomic analysis of the generated data that would aid in more accurate diagnosis, prognosis and pharmacogenomics (Kalia, 2013; Ruiz et al, 2012).  Genomic analysis is by now considered an important contributor to personalised oncology, supporting the growing approach of using biomarkers to predict drug sensitivity of tumours, and hence allowing accurate treatment (Kalia, 2013).

Despite the longitudinal nature of the research, and the associated adjustments to the healthcare and legal system that will be required, ultimately one can make the point that the long term benefits of the results, once generated, could by far outweigh the time and financial cost of the project; it will take time but, arguably, the sooner such a scheme is started, the better.

References:

Beauchamp T L, Childress JF (2009) Principles of Biomedical Ethics 6th Ed. New York, Oxford University Press Inc.

Bell J (2012) Building on our inheritance; Genomic technology in healthcare A report by the Human Genomics Strategy Group. January 2012 [http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_132382.pdf]

Curtis C, Shah SP, Chin SF, Turashvili G, Rueda OM, Dunning MJ, Speed D, Lynch AG, Samarajiwa S, Yinin Y, Gräf S, Ha G, Haffari G, Bashashati A, Russle R, McKinney S et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups.  Nature, 486; 346-352Volume:Pages:

Gallagher J (2012) Genetic testing: NHS “must back revolution”; http://www.bbc.co.uk/news/health-16725032  Accessed 23rd Feb 2013.

Kalia M (2013) Personalized oncology: Recent advances and future challenges. Metabolism. 62, S11-S14.

Lunshof J, Chadwick R, Vorhaus D, Church G (2008) From Genetic Privacy to Open Consent. Nature Reviews Genetics 9, 406-411, doi:10.1038/nrg2360

National Human Genome Research Institute (2013) DNA Sequencing Costs; Data from the NHGRI Genome Sequencing Program (GSP); http://www.genome.gov/sequencingcosts/ – accessed 23 Feb 2013

Robertson, J (2003) The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals. The American Journal of Bioethics 3: W35-W42.

Ruiz C, Tolnay M, Bubendorf L (2012) Application of personalised medicine to solid tumours: opportunities and challenges. Swiss Med Wkly. 142:w13587

UK Genetic Testing Network, UKGTN (2013): www.ukgtn.nhs.uk accessed 20 Feb 2013.

Walsh F (2012) DNA mapping for Cancer patients; http://www.bbc.co.uk/news/health-20663090  Accessed 20th Feb 2013).

Evolution of a Biology Logo

Evolution of a Bio Logo

This story tags onto Al’s blog about the design of the current BioSET logo; a joint endeavour between Al and myself, and voted on by the rest of the BioSET team.

With Al being better at using the picture-editing software GIMP, it was agreed that whilst I would help to come up with a few initial logo designs, Al would demonstrate his creative skill with computer graphics in editing and refining my hand-drawn sketches and ideas.

The photo shows some of the initial, rough stages of the logo’s development, which spawned several design ideas (not shown here) which either had to be discarded due to being either over-complicated (I didn’t want to make the job of digitalising the image too difficult), unclear, or both. Yet I was aware that with the name “BioSET” – being short for Biological Science Student Employability Team – designing a logo that was both attractive in design and visually descriptive would be challenging, though full of possibilities.
For instance, in designing an image to convey a message to an audience, popular recognisable symbols are useful to include; for instance, my initial idea to design the “B” and the “S” as a modified DNA double-helix, along with the neural cell body for the “o”, aimed to convey the idea that “Bio” would refer to general bioscience research , rather than, say, eco-friendly washing powder.

Coming up with an image to represent “student employability” was more difficult; the arrow stemming from the “ET” of SET was an attempt at symbolising the future-orientated nature of student career development.

The neuron “o” was also added to give a sense of balance to the layout of the lettering, as well as being a point of interest and add colour.

The colour scheme of blue/green and yellow/ orange was primarily based on the green and orange used in Al’s earlier designs, which, as complementary colours, work well together. Furthermore, given the limited colour range of my fine-liner pens, I also had to keep things more or less simple.

About 2 hours of re-tracing, out-lining and pencil-colouring led to the final product; an A4 hand-coloured version, scanned and sent to Al for approval and digitalisation, and posted on the Digital Literacies Project Facebook page.

However, though well-received by the team, it turned out that in my enthusiasm to create I overlooked one important factor; due to the fine, delicate nature of this design with it’s many features, the logo would not be easily readable at smaller sizes. Thus it was decided to keep the helical “B”, whilst having the rest of the letters as simple text, which fortunately turned out to be a more popular, practical design.