Pharmacogenomics & Personalised Medicine

As promised – here is the second post of two to begin my hopefully-more-regular posting of blog posts!

As a change of pace from the “Problems in Pharmacology” series of posts, I thought it would be good to provide a solution. Pharmacogenomics is a merging of pharmacology and genetics, wherein genetic information from the patient can be used to determine their response to a drug.

Personalised medicine is a proposed method of healthcare that involves tailoring a patient treatment to that patient. This seems like a no-brainer: surely every form of healthcare should be personalised? However, in order for healthcare to be fully personalised, we must use pharmacogenomics. Conventional medicine treats a patient’s symptoms, and perhaps biomarkers (such as chemicals found in their fluid samples), with therapeutic drugs known to reduce these signs, and therefore likely the disease the patient has.

The current healthcare system is reactive, requiring evident symptoms to treat conditions, and thus blocks innovation and inherently finds it tricky to treat conditions with little to no symptoms. The future of healthcare therefore lies in treating the mechanisms of disease, based on evidence found inside the patient.

In order to obtain this “evidence” professionals need to be have genome-based training, and we must integrate the technology necessary into our healthcare system. Instead of looking for symptoms, we should also look at a patient’s risk factors – factors which would enable the development of risk patterns for understanding the various differing diseases leading to a patient’s condition.

Unfortunately these steps are extremely costly: it’s unlikely we’ll get to these stages in the near future. But changes in thinking could do a lot to enhance our current understanding of medicine.

We can’t get data from everyone – but we should understand that we don’t know everything about a patient, and that their condition is dynamic.
Incidental findings are not anomalous – they are misunderstood.

Hopefully a paradigm shift from the treatment of “common complex diseases” to “multiple rare diseases” would help medical professionals and researchers to fully acknowledge the depth of complexity in even our common diseases.
Cliché though it may be, we can paraphrase Socrates in this issue: The only thing that we know is that we know nothing.

This post is entirely my own opinion, based on my own experiences – feel free to disagree and share your thoughts in the comments!

 

A note from the author: As my posts sometimes touch on emotive subjects, comments are disabled after 4 days. This is because, at this stage, I feel that ongoing discussions tend to stagnate.

Problems in Pharmacology: Data Collection and Consent

After an extended hiatus, I decided to do two quick posts to sum up some the most contested general issues in current pharmacology. Firstly: data collection and ethics.

In order to overcome some of the boundaries faced by the modern doctor, it is essential that they have access to data and private information regarding the condition and treatments of other patients. It therefore follows that, in order to fully examine research into future treatments of human diseases, pharmacological researchers should also have access to a certain amount of data – at least to avoid them wasting their time or making the same mistakes as doctors in the past.

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Patient data obtained in the hospital is extremely delicately handled. As someone who has personally dealt with this data, I’ll lay it out in a basic form below.

The first step is obtaining consent, in every situation. This means that a researcher must outline all possible uses for a patient’s samples and obtain the patient’s permission.

This consent form must be stored indefinitely in a fashion that anonymises it. This may be through filing certain personal data in a form, then making that form inaccessible to the researchers so that they might only refer to the patient as “patient x” for example.

This data is kept so that, in the future, an authorised person may go back to it and cross-reference any particular qualities the patient may have (their age for example) against other relevant patients to determine whether these qualities may have any effect on their condition. Anonymisation means that researchers have access only to information relevant to their work and not to any other information – their address, for example. Complete anonymisation is difficult, however.

Ways around this consent issue could be use of cell lines (cells cultured from known sources) or the use of samples from deceased patients. However, the latter still does require consent, and the former is only appropriate for certain kinds of research. Clinical pharmacological research requires clinical samples (such as saliva, urine) from living patients. Therefore researchers very much appreciate consenting patients – they really do help a lot!

A lot of useful data is also found in Biobanks (such as: http://www.ukbiobank.ac.uk ). These Biobanks collect relevant samples (blood, urine, saliva) from patients, which allows them to follow the health of these patients. This allows the generation of a database following the treatment of patients with a vast range of diseases: cancer, stroke, diabetes, arthritis, the list goes on!

Why, you might ask, are these banks not used universally then? The issue is simply: ethics.

Different countries require different forms of ethical approval and data processing. In order for data exchange between authorities worldwide, there must be a worldwide ethical framework.

In addition to these issues, there is another at the forefront of research worldwide: procurement and exchange of genetic information. To fully understand many conditions (especially those most prevalent such as cancer and heart disease) it may be necessary to examine the genetics of a patient. There would therefore need to be a consensus between not only biobanks but genetic databases as well.

The future of this research thus requires streamlining of the process of consent, and a greater understanding in patients of what giving consent really can achieve.

This post is entirely my own opinion, based on my own experiences – feel free to disagree and share your thoughts in the comments! Please also note that I have only extremely briefly summarised the process of consent and anonymisation above for the sake of space and tedium!

 

A note from the author: As my posts sometimes touch on emotive subjects, comments are disabled after 4 days. This is because, at this stage, I feel that ongoing discussions tend to stagnate.