Genome sequencing, what's it worth?

Evaluating the Outcomes Associated with Genomic Sequencing: A Roadmap for Future Research

The health economic evidence base for WES -whole exome sequencing- and WGS -whole genome sequencing- is very limited . A recent literature review identified just eight economic evaluations of either WGS or WES, six of which were cost-effectiveness analyses using diagnostic yield as the outcome measure. Only two publications presented cost-utility analyses using quality-adjusted life-years (QALYs) as the measure of health outcomes, as recommended by most health technology assessment (HTA) agencies. However, neither of these cost-utility analyses provides information on health outcomes that HTA agencies can use to inform the translation of NGS technologies into clinical practice for specific disorders.

Last May I wrote a post on this topic. Now James Buchanan and Sarah Wordsworth provide a roadmap for future research with three steps.

First, it is crucial that health economists generate evidence on the clinical utility of genomic sequencing using the methods and metrics that are recommended by HTA agencies. Here, we are primarily referring to the use of preference-based HRQoL instruments such as EQ-5D questionnaires to generate utility weights that can be used to calculate QALYs 

If there is reason to believe that patient wellbeing will change after undergoing genomic sequencing (for example, supportive qualitative evidence), but commonly used HRQoL instruments show no effect, a second step would be to explore the use of alternative health-state valuation techniques to generate utility weights within the QALY framework. The time-trade-off (TTO) technique is one such approach

A third step would be to make full use of existing evidence on the diagnostic yield of WGS and WES. Studies that link this evidence to patient survival and quality of life (for example, trials or observational studies with long-term follow-up), could inform decision making regarding the translation of these technologies into clinical practice.

Unfortunately, it is easier said than done. I'm dubious regarding the potential of QALYs on assessing value of such technology, despite I have no alternative solutions right now.

Exhibition at Saatchi gallery

Geisinger (it is not any fiord)

A suggestion for weekend reading: excellent interview by Eric Topol with the Geisinger Health System CEO, in Medscape.

Regarding genetics in clinical practice:

Our approach is based on asking, "What if we did whole-exome sequencing on our entire population?" We started this to see whether we could find medically actionable genetic conditions that we could do something about. We are 200,000 patients into it—or I should say, research subjects, because we started with research—and we have found that 3.5%-4% of those people have something actionable: BRCA, malignant hyperthermia, Lynch syndrome, genes associated with cardiac arrhythmia.

They are unique.

And this is what happens at Sotheby's after the purchase for$1.4m

Banksy is a genius 

As time goes by

The order of time

I've just finished the book I started this summer: The order of time. It's quite difficult to enter in physicists territories, and time is the last frontier and a mystery. But Carlo Rovelli does a great job explaining in easy terms such complicated things.

This is the disconcerting conclusion that emerges from Boltzmann’s work: the difference between the past and the future refers only to our own blurred vision of the world. It’s a conclusion that leaves us flabbergasted: is it really possible that a perception so vivid, basic, existential—my perception of the passage of time—depends on the fact that I cannot apprehend the world in all of its minute detail? On a kind of distortion that’s produced by myopia? Is it true that, if I could see exactly and take into consideration the actual dance of millions of molecules, then the future would be “just like” the past? Is it possible that I have as much knowledge of the past—or ignorance of it—as I do of the future? Even allowing for the fact that our perceptions of the world are frequently wrong, can the world really be so profoundly different from our perception of it as this?

All this undermines the very basis of our usual way of understanding time. It provokes incredulity, just as much as the discovery of the movement of the Earth did. But just as with the movement of the Earth, the evidence is overwhelming: all the phenomena that characterize the flowing of time are reduced to a “particular” state in the world’s past, the “particularity” of which may be attributed to the blurring of our perspective.

 As The Guardian review says, the book is "an expression of the scientific desire to know and understand the world". Rovelli's message: time doesn't go by, time doesn't really exist as we imagine, it is only our construct.

La rumba del temps by Joan Miquel Oliver