Beware of recreational WGS

Clinical Interpretation and Implications of Whole-Genome Sequencing

If some weeks ago I explained the false advertisement case on nutrigenomics, now from JAMA a new alert appears on whole genome sequencing.

Depending on sequencing platform, a median of 10% (Illumina Inc; range, 5%-34%) to 19% (Complete Genomics Inc; range, 18%-21%) of genes associated with inherited disease and a median of 9% (Illumina Inc; range, 2%-27%) to 17% (Complete Genomics Inc; range, 17%-19%) of  ACMG-reportable genes were not covered at a minimum threshold for genetic variant discovery

As far as this is the first time that such differences are reported between two alternative sequencers over the same sample, new uncertainties arise on the value of recreational genomics.

The roots of new governance

Governance in healthcare institutions

As you know, in this blog I quote canadians in many respects. Their "Board of Directors Governance handbook" is a key document for those who want to understand the role of the board in a hospital. I suggest a quick look.
However, last week there was a closer presentation of a document of interest on governance by Consorci Sanitari i Social. The focus is closely related to the current trend towards converting hybrid organizations into public ones following an accounting criteria ESA-95. Some years ago I explained the big transformation in the ownership due to accounting rules! Incredible, but true.
I have always defended management autonomy and these moves were closely related towards less autonomy and more centralization. Right now, I'm repeating the same: we do need a system that is able to introduce the right governance and management. The issue is not only management autonomy it is also a responsible governance, an issue that in the past has been forgotten many times. The document shows the partial roadmap for such evolution. I would prefer to go beyond that and begin a deep review of current ownerhip and contracting in the public system, to improve efficiency.

Finding consensus in health policy

One of the key features of successful health systems is to achieve wide consensus at a societal level. Citizens have to share common values on the health system that they want. Some time ago I quoted the article by Anne Mills on this topic.
Today we can confirm that the foundations for such consensus have been built. Although unions and some parties have rejected the current text, there is a wide representation of organizations of the Catalan Council of Health. From now on, the discussion will take place in Parliament.
This is good news. You may have a look at the document here and here. There are many new insights and prescriptions to be developed.

The seed of efficient genomic sequencing

Technology: The $1,000 genome

Imagine for a moment that you have back ten years, and as the health research responsible in the government you decide to allocate $230 million to achieve a $1000 individual genome sequencing. At that moment there was a monopoly by one company, Sanger. Your effort was to promote genomic applied research, better sequencing, and doing so, the monopoly would be undermined.
This is precisely what the US government did through the Advanced sequencing technology awards and right now has achieved its aim, a more efficient sequencing. They have been extremely successful and are closing the program  (NHGRI) this year: the goal has been achieved.
The funds allowed to break the former monopoly (Applied Biosystems) and at the same time, ten years later, a new quasi-monopoly has appeared (Illumina). This extraordinary story is well explained in Nature:

Researchers are optimistic that another technology will emerge to challenge Illumina. Most think, in fact, that the crucial questions for the field will shift away from technology. Now that sequencing is cheap enough to talk about scanning every patient's genome, or at least the protein-coding portion of it, it is still not clear how that information will translate into improved care (see Nature http://doi.org/rvq; 2014). These more complex issues will require another great leap in genomic science — one that could make the trouncing of Moore's law seem easy.

 

PS. For those that support patents, this is a good example of how prizes substitute patents to spur innovation and confirms Mckinsey article.

Medtech on the profitable road

The 2013 Medtech Value Creators Report
Finding Sustainable Value in a Changing Market

Quick numbers from US stock exchange (2009-2013) for 65 companies in Medtech sector (medical device, medical equipment, medical supply and in vitro):

They generated a TSR (total shareholder return) of 14.8 percent per year. While in terms of value creation its performance trails that of other health-care sectors—such as health care services (at 21.5 percent per year) and biopharmaceuticals (14.9 percent per year)—it has come with less risk (that is, a smaller spread between the TSR values of the best- and the worst-performing companies), thus offering an attractive risk-reward profile for investors.

That's all folks.

Futility labeling

Choosing Wisely — The Politics and Economics of Labeling Low-Value Services

As far as the evidence on effectiveness is uncertain in some cases, somebody has to put an alert on the population. Asymetric information is always moving towards some bias and favour those with better position. This is the moment for an independent body to disseminate information towards patients. In NEJM you'll find an article about Choosing wisely, an initiative already explained in this blog. An interesting objective, although the means could be controversial. Maybe professional associations are not in best position to assume such task. Kassirer (once again) reflected many years ago the relationships with industry and their conflicts of interest. My suggestion would be independent agencies, NICE style. They should inform population about what works, and they are already doing it.

Keep on improving

On the improvement of blood sample collection at clinical laboratories

Efficiency in healthcare management comes as the result of many decisions and actions. Knowledge can improve such decisions. This weekend I was reading this article on clinical labs and how to collect samples with less routes. With operations research techniques, it is possible. Afterwards there is a need to implement them. The results of the article:

The two laboratories in this study previously planned routes manually for 43 and 74  collection points, respectively. These routes were covered by an external carrier company. With the implementation of this algorithm, the number of routes could be reduced from ten  to seven in one laboratory and from twelve to nine in the other, which represents  significant annual savings in transportation costs

The potential for operations research in healthcare is huge. The incentives to apply it, low (unfortunately).