Where we are and where we go

Thursday morning, 15th September

This morning the audience got to know what state of the art is today and what we can envisage for tomorrow. Many speakers took the view that the future is today.

Common misconceptions in the media and the society were highlighted: Group statistics, e.g., can’t be broken down to individuals. An increased population-derived risk does not necessarily mean that a certain individual in that group will get sick. Then, do we have to change our thinking of clinical trials as the gold standard of evidence based medicine and are there cases where such clinical trials are contra-productive? One might consider the 50% of phase III clinical trials that fail and cost the pharmaceutical companies enormous amounts of money.

Not only that, but they also exclude drug candidates from the pipeline that might be of some benefit for a subgroup of patients if one would care to reassess the classifications of human diseases, based on an understanding of molecular pathology.

Regardless of that, excellent studies of individual conception of risk in participants are presented by Prof. Robert Green. The REVEAL study on Alzheimer’s disease showed some surprising results: People that know their risk, do respond by changing their behaviour even if the assessed disease is unactionable since there is no treatment. People want to get tested, and more so, they are even willing to pay for it, even though they know that if they are carrier of the risk allele there’s nothing they can do about it. These studies give hints on the answer to the question whether or not we should test people for a genetic predisposition to a disease where there is no treatment.

Obviously, people want to know their risk. Also, interestingly enough: Among those participants who accurately recall their risk disclosure 47.5% still continue to believe otherwise. Some think they’re better off, but even more perceive their risk as even higher than it really is. To avoid such misconceptions a strong physicist-patient interaction is needed.

Wednesday afternoon, 14th September

The afternoon session features a series of excellent talks. Dr. George Church emphasizes the importance of the fact that a trait is the result of the genome AND the environment. Today, the sequencing technology moves six times faster than computer industry, there are 37 next-generation sequencing technologies, 9 of which are already commercially available. The distance between research and application is no more decades but rather weeks. And 2443 diseases are known to be highly predictive and medically accessible.

Prof. Rudolph Aebersold explains a new concept to bridge the gap between genotype and phenotype including a molecular phenotype or network that can be assessed by SWATH mass spectrometry. Preliminary results measuring the applicability of cellular networks for stratifying patients are promising; an 85% accuracy rate was observed in a small study. It will be important, that genomic analysis is complemented by measurements of expressed information (i.e. protein expression) that indicate the acute state of a patient.

During the next talk, Prof. Uta Francke identifies a revolution in medicine from reactive to proactive. The concept of the P4 Medicine (Predictive, Personalised, Preventive and Participatory) shifts the patient (consumer) into the focus of health care. Engaged health care consumers will lead to better health care outcome. Another paradigm shift is from traditional static to participant-driven dynamic genetic research.

James Heywood from PatientsLikeMe closes the afternoon session with his enthusiastic talk. PatientsLikeMe works much like a dating site that includes features from social networks. It enables its members to share condition, treatment, and symptom information in order to monitor their health over time and learn from real-world outcomes. This concept should – according to James Heywood – be an alternative or even to a certain amount replace clinical trials. In the words of Hippocrates: “It far more important to know what person the disease has than what disease the person has.”

Wednesday, 14th September – Opening of the Conference

Today, things actually started with the first scientific talks in the programme. Dr. Ernst Hafen spoke on the topic The Power of Genetics – from Flies to Humans. But before that, Dr. Klaus Hug, Abbot Christian Meyer and Landammann Niklaus Bleiker were giving their respective opening and welcome speeches. Abbot Meyer elaborated on the history of the venue. In 1740, Abbot Emanuel Crivelli supervised the construction of the new baroque ceremonial hall at the Abbey Engelberg. There were many fights between Abbot Crivelli and the stuccoer since the latter was a lazy-bone. In the end the stuccoer eternalized himself in the form of a heron pinching the Abbot’s nose at the halls’ ceiling. So what did Abbot Crivelli do about this? Not only did he refer from destroying the stuccoer’s provocative work, he even dedicated a medallion painting to his opponent. Needless to say that he had the stuccoer depicted drinking and smoking and nowhere near working. That way, Abbot Crivelli found his own personalized remedy for this specific situation.

But now, back to business: From Dr. Ernst Hafen we learn that the 155 Mbp of the X chromosome fit in a huge black book, that individuals differ in one out of 1000 letters of the genetic code and that starving model organisms live longer than their well-fed counterparts. That a defect in the insulin pathway makes Caenorhabditis elegans think it’s starving, and thus live two times longer than the wildtype. Further, that the sequencing of the first human genome cost about $2.7 billion; in a few years the same task should cost no more than a few 100 dollars. At the end, different opportunities and challenges of the ubiquitous availability of DNA sequences are discussed.