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Human genome helping medicine – how far is it going?

I recently read a blog by Veronica Combs and the Mayo Clinic list of advancements possible by the human genome mapping. While there are obvious advances already making a difference in people’s lives, some of them are only a possibility, which will hopefully soon materialize. Here are just some of the thoughts on the topic. 

2. It’s making sure your doctor is giving you the right drug at the right dose.
Do all the doctors really check which drug and what dose should you be taking? Some definitely do, but even then it is not necessarily up to them if you will be taking that drug. Insurance companies in the US not always easily accept this type of personalized medicine, so if you can pay yourself for the drug there is no problem. But is this approach really available to everyone? Do all the doctors even know how to use it? 
4. It may be helping you prevent an illness.
Slowly we are making progress in that area. It is better for some diseases than others. Definitely we need to know a lot more to be able to assess everyone’s risk really well. Part of this is doing more whole genome sequencing, analysis of not just genomic data but also phenotypic data to co-relate them to each other. This aspect leads right into the next point.
 
7. It may help you pick the right foods for your digestive system.
Nutrigenomics has been recently labeled as the worst evil when it comes to DTC diagnostic, so how are we to really look at it? In my opinion it is one of the most important tools that can help people with their attempts to lead healthier lifestyle and banning DTC nutrigenomics by the FDA is not helping. Maybe a better approach would be to get more doctors familiar with it and have them assist people who want to use the method even if it has a limited utility. If we consider some of the genetic disorders that can be treated with proper diet it becomes clear that nutrigenomics can provide also an average healthy person with benefits in respect to choosing their diet. 
 
8. It may help in tailoring your cancer therapy. 
The door is definitely open for companion diagnostics, personalized medicine and unique ways of helping people with cancer. How frequently are the doctors crossing the threshold though? We need better access to the genome based diagnostics and better diagnostics, but even more importantly better understanding of what the observed changes mean for a given patient. Your or mine cancer do not have to be the same even if they attacked the same tissue and have the same origin. We are probably getting closer to be able to apply personalized treatments in oncology than we were a decade ago. My concern is though that not all patients have the chance of the advanced treatment, because of their location, insurance or other reasons. While personalized treatments can appear to some as luxury, they would be actually better for patients and can lower the overall costs long term.
 
9. Family health and family planning
This has definitely been embraced by the general public and doctors alike. While it is posing some ethical questions, it is definitely the area that is moving forward rapidly.
 
10. Genomic information in your medical record will help doctors diagnose and treat you in the future.
I do not think that anyone will argue with this promise. Yet, if we thought that family planning raises some issues, the storing of the genome information is raising a lot more questions. One big issue is security of the data, second – who and how will be able to access the information, especially of you are identified as being at increased risk of cancer, cardiovascular disease, Alzheimer’s or Parkinson’s just to list a few. An even more disturbing prospect was that some big diagnostic companies are storing your samples and even your results to create their proprietary databases and tests. In my opinion this promise of the human genome mapping is one of the most important ones but it also needs very clear regulation to ensure that we all feel satisfied with security of our genetic data and access to it.
 
In summary we are living in great times, we can easily get answers to lots of questions that 5 or 10 years ago were a total mystery to everyone. However, it has to be clear there is a long road ahead of us to use the information we have to its full potential. 
 
 

 

 

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