Sonntag, 8. März 2015

3.4 Personalized medicine

Clinical genome sequencing

Dangers of personalized medicine through human genome sequencing
The sequencing of one genome could predict various diseases, so that preventive measures can be adopt to avoid or at least to stem the disease. But these chances bring also disadvantages. Through the knowledge of the risk of a disease, health insurances could refuse affected people or raise their contributions.
Beside the financial reason, the ethical question is also very important. Imagine a sequencing of your genome would uncover, that you will die on cancer in 20 years. Although you could react earlier to fight against the cancer, wouldn't it be better if you would receive this information later? Wouldn't you have a better life, not counting your remaining time and knowing when you will get what sort of suffering? It could be even dangerous if there would be a number of people, who know more or less when they die (especially when they die young), because they would live more unrestrained, what could maybe increase the criminal rate.

Better managemant with the genome data
So if this proceed would be apply, the prediction should be kept back from the concerned person until the time when medical measures make an impact. But this moment ought be the latest time to inform the patients, because giving them medicaments without letting them know on what they suffer, would be even more ethical critical.

Societal concerns and lifestyle-change
The main concern of the society, like already mentioned, is the fear of an unfair treatment by the insurance companies in case of a diagnosed disease. Furthermore knowing to become diseased could change the lifestyle of a concerned person. The reactions can be very different. In some cases it could end in self-pity, in a depression, thinking often of one’s own sad destiny. This negative thinking could lead to rude or even criminal behaviour. But it's also conceivable that such a diagnose could enhance the concerned life-quality. People who react in this way want to exploit the healthy rest of their life as much more. It really depends on the character of the affected person. (Up to here, there have no references been used.)

An example how genome data has changed the diagnostic practice
Apart from all these dangers, there are certainly some positive points of the medical application of the genetic fingerprint. For example has this technology changed some cancer-diagnoses (but even more some cancer-therapy). Although the classification of cancer is mainly done through histological analysis of tissue sections or cells, there have also been used molecular markers for years for some tumour types, such as breast cancers and leukaemia. The expression level of mRNA transcript is measured through a microarray-based expression profiling. That leads to a rapid improving of the ability to classify cancers, particularly in early-stage breast cancers, colon cancers and hematologic cancers. (Dave et al., 2006; Lo et al., 2010a; O'Connel et al., 2010; Paik et al., 2004; Rosenwald et al., 2002; Wang et al., 2005). Genes included in particular cellular pathways are frequently mutated due to somatic alterations that directly conduce to the abnormal growth of the cancer cell. Detecting the presence or absence of mutations through sequencing within these genes can help predicting a patient's response to a specific targeted therapy. (Lynch et al., 2004; Paez et al., 2004)

Would this technological change improve the chance of survival of the patient? 
If a disease is referable to a genetic predisposition, it can be identified earlier with genome sequencing, so that the therapy can take place at the right moment and the progression of the disease can be observed anytime. In some cases it is only possible to detect the possibility if a disease will occur. Then the therapy can arrange preventive steps or at least the patient would be observe regularly.
In my opinion personalized medicine through genome sequencing has a big potential to improve the chance of survival of the patient for mentioned reasons. Certainly could the survival-chance of a patient be the same through conventional methods, but then it needs also luck, that the disease will be diagnosed early enough. Many diseases could be diagnosed through genome sequencing early enough, while these could keep hidden without until the patient remarks the first symptoms.

4 Kommentare:

  1. Hi Sven

    Your blog is a very good start for the discussion. I am impressed by your way of writing and discussing. However, I also would like to see a few more scientific citations to ethical topics, but also a full reference list with the full references at the end of the post.
    The topics you discuss are realistic, relevant and a sign of the time. You missed out on the regulatory issues that are already being implemented in this topic. I think you could update by reading and commenting your colleagues' posts.

    Regards

    Theo

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  2. Hi Sven

    Firstly i'd like to say that i like your writing!

    I share your concerns regarding the ethical questions, and obviously also that people, especially in their early years, would be depressed to know that they had to count their remaining days.

    It would be interesting to know if in the end personalized medicine, as you stated, wouldn't be improving the survival-chance compared to early detection with todays medicine. In the future, there will be a lot of research needed which will hopefully give us the answer.

    Regards

    Luca

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  3. Hi Sven

    You have some quite interesting points in your blog.

    I really like your idea, that the criminality would rise, if genome sequencing would be used frequently. But somehow I doubt it. Because as I understood, there’s no 100% security that such a disease really occurs. The sequencing shows only a probability of diseases you could get.
    But nevertheless, it might be possible that some people go crazy as you said, because of the fear of such a disease.
    Well done.

    Greetings, Tobi

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  4. Hi Sven

    It was really rewarding to read about your personal attitudes to this topic.
    As you did very targeted in the first paragraphs, I think, besides the scientific assessment of diverse causal relationships it is worth to think outside the box and face the challenges arising from increasingly complex ethical or sociocultural issues.
    With the aim of avoiding isolated considerations on the one hand and then again too abstract and conceptional ideas, calculation parameters and methods should be tested for adequacy and be adjusted if necessary in the comparision of research findings. Generally, a more interdisciplinary cooperation should be striven, thereby both inductive (based on individual case/ « bottom up ») as well as deductive thinking (normativ approach/ »top down ») may be more encouraged. This migtht be enable to find a good way trough the plethora of regulatory agencies acting.

    Friendly greetings, Carmen

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