Hi John, i just wanted to write down any questions.
Surely also other forum members will want to formulate such questions. I will do what i can, to find even more questions And at the end, we will choose which questions would be submitted as the most "burning".
The three specialists have published such a lot of review, articles,.. that one must be overwhelmed by that.
Maybe there is not so much echo on your request because of that. Also the materia is difficult to understand. Maybe members hesitate to ask, because the questions would be too basic. But i think, the experts should know, on which level of information the patients really are.
Partly forum members might have had much more contact with all this whole genome sequencinge, exome sequencing, second generation sequencing than me. I just met the subject occasionally in 2010 when i tried to report recent advances with mutation detection for diagnosis and therapy planning for patients with MDS/Myelodysplastic Syndrome: 5q-, TET2... and so are the mutations considered there.. But i was standing alone with my fascination for all that, maybe not the usual patient (because i had so many diseases and i am now a sort of professional patient).
But beyond all fascination i am in sorrow, whether mankind will deal with this new potential /possibility of personal genome sequencing and data collection for that, also implementation in the clinical practice, with all the necessary responsibility. What happens if in the genome of a child would be detected a "gen-of-probable murderer - to be", how will be dealt with neuropsychological diseases? Will the result of the Genome sequencing decide one day, if a person would be held in detention for prevention of crimes?..
From the few reports i read (fast reading) with the contribution of Misha Angrist i learned that he/she must be a deeply honorable scientist, ready to consider and discuss all the sensible topics, also with the patients. From the other respondents i have not read anything up to now.
This scientific field is very young, and so it will supposedly last for some years, till the general discussions have lead to a clear end. For example: Whats about patents and exclusive licences for gen-testing? Who will take the lead in the research?
Will it be in the full free choice of pharmaceutic enterprises to determine, how much gene tests will cost, or if they would let fall down specially small patient popolations of rare diseases by not conducting further research, but instead not renewing their licencing applications or withdrawing them, with the result that this group will be without access to these new techniques? Many questions..