26 February 2011

EMR in Ny Times

THE United States is embarking this year on a grand experiment in the government-driven adoption of technology — ambitious, costly and potentially far-reaching in impact. The goal is to improve health care and to reduce its long-term expense by moving the doctors and hospitals from ink and paper into the computer age — through a shift to digital patient records.
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In Walsenburg, Colo., the Spanish Peaks Family Clinic aims to complete conversion to digital records later this year.

Step back from the details and what emerges is a huge challenge in innovation design. What role should government have? What is the right mix of top-down and bottom-up efforts? Driving change through the system will involve shifts in technology, economic incentives and the culture of health care.

“This is a big social project, not just a technical endeavor,” says Dr. David Blumenthal, the Obama administration’s national coordinator for health information technology.

This year is when the project really takes off. In the 2009 economic recovery package, the administration and Congress allocated billions — the current estimate is $27 billion — in incentives for doctors and hospitals to adopt electronic records.

Now, a new Congress with Republicans looking for budget cuts could take back the money. Legislation has been introduced by Representative Tom Latham, an Iowa Republican, to reclaim unspent stimulus dollars — and money for accelerating the adoption of electronic health records could be a target.

Still, steps to encourage adoption of computerized health records have had bipartisan support over the years, though only the Obama administration has pushed for big financing. Most health policy analysts say it is unlikely that the legislation will be overturned.

When well designed and wisely used, computerized records have proved valuable in improving care. Doctors have more complete information in treating patients, reducing the chances of medical errors and unneeded tests.

But the success stories to date have come mainly from large health care providers, like Kaiser Permanente, the Mayo Clinic and a handful of others. Most physicians are in small practices, lacking the financial and technical support the big groups provide for their doctors. So it is scarcely surprising that less than 30 percent of physicians nationwide now use digital records.

Late last year, the administration, working with health professionals and the technology industry, set out a roadmap for what digital records should include and how they should be used, for doctors to qualify for incentive payments, typically up to $44,000. The program begins this year, and the requirements for using the records to report and share health information increase in stages through 2015. After that, penalty payments from Medicare and Medicaid kick in for doctors who don’t meet the use and reporting rules.

The initial requirements to qualify for “meaningful use” are minimal, including being able to collect and electronically report basic information, like vaccinations for children or blood glucose levels for diabetes patients.

The long-range vision is that computerized patient data is a step toward what health care specialists call a “learning health system.” That means data across populations of patients can be analyzed to find what treatments are most effective or to get early warnings on dangerous drug interactions.

“Islands” of such learning networks already exist, notes Charles P. Friedman, chief scientist in the federal health information technology office. By mining its patient data, Kaiser, for example, was first to identify a link between the pain-relief drug Vioxx and a higher risk of heart failure, well before Merck pulled the drug off the market in 2004.

Yet the road to a national computer-enabled learning system, specialists agree, promises to be long. A major obstacle is that so many doctors, especially in small practices, are leery of technology they see as needlessly hard to use and time-consuming. “Doctors don’t want to become clerks,” says Dr. Isaac Kohane, a health technology specialist at the Harvard Medical School.

And complex technology — designed for big health groups, not small practices — could well increase medical mistakes, specialists say.

Such issues, Dr. Blumenthal says, are a reason that the government’s standards, and perhaps even the timetable for adopting electronic health records, will evolve and remain flexible.

The government, he adds, is looking closely at safety and usability. Dr. Blumenthal’s office gave the Institute of Medicine a grant of nearly $1 million for a yearlong study of electronic health records and patient safety. And his office is working with the National Institute of Standards and Technology to develop a “usability assessment tool” that can be used to evaluate the digital records offered by different companies.

Under Dr. Blumenthal, the office has tried to gradually build consensus on policy and technical standards rather than issuing edicts. However, the President’s Council of Advisors on Science and Technology, an independent group of academic and industry experts, said in a report last December that the time had come for more “top-down design choices,” which it called “an appropriate government role” and one that “requires a more aggressive approach than has been taken in the early stages.”

THIS month, the health information technology office announced a step that showed its preferred approach to setting standards, one that borrowed from the Internet model of open-source software development in an initiative called the Direct Project.

Many companies and groups contributed to the government-endorsed Internet-based tools for exchanging health data among institutions. Developers wrote code and suggested ideas, and a consensus built around an approach that was selected by the government. The design was inspired by the Web, with its minimal specifications that leave ample room for innovation, says Dr. Douglas Fridsma, head of standards at the health technology office.

Without a brisk market in information exchange, the campaign to adopt electronic records cannot really pay off. And more is needed than data-sharing standards and privacy and security protections, Dr. Blumenthal says.

The incentives have to change as well. Two hospitals a few miles apart, he notes, do not now view themselves as allies, but as competitors. To a doctor or a hospital, a patient is, among other things, a financial asset — and holding a patient’s information is valuable.

Insurers, he suggests, will have to pay for providers to share data or penalize them if they don’t. “Information exchange has to be a business goal, rather than a competitive threat, for this to work,” he says.

16 February 2011

09 February 2011

It is the network of developmental interactions, rather than the gene, that is the focus of selection.


Well THE hot new topic around will be Epigentics. So lots of what is being arguing 'round here may be only part of the story.
Back when Thomas Kuhn published on science thinking, someone came along with the notion of the "anomaly box". When trying to form basic theory, anomalies are stored away. Later when things are more settled, the box is dusted off and exceptions are examined. It may be Genetics time to look at its anomaly box


Quote:


The late 20th century version of the Modern Synthesis assumed:

1. Heredity occurs through the transmission of germ-line genes. Genes are discrete units of DNA that are located in chromosomes. Hereditary variations are the result of differences in DNA base sequence. There are no inherited variations that cannot be expressed in terms of inherited genetic differences.
2. Hereditary variation is the consequence of (i) the many random combinations of pre-existing alleles that are generated by the sexual processes; and (ii) new variations (mutations) resulting from accidental changes in DNA. Hereditary variation is not affected by the developmental history of the individual. There is no “soft inheritance.”
3. Heritable variations usually have small effects, and evolution is typically gradual. Through the selection of individuals with phenotypes that make them slightly more adapted to their environment than are other individuals in the population, some alleles increase in frequency. Mutation pressure is not an important factor in evolution. With a few exceptions, macroevolution is continuous with microevolution, and does not require any additional processes.
4. The ultimate unit of selection is the gene. Although genes interact and the interactions are often non-linear, the additive fitness-effects of single genes (which can be extracted from the fitness effects of the developmental networks in which they participate) drive evolution by natural selection. The genetic-developmental network and the phenotype it generates is not heritable and cannot be a unit of evolution.
5. Morphological innovations, like all innovations, are the results of gene mutations that, when beneficial, accumulate over time and lead to a qualitatively new form. Generic, physical-chemical properties of biological matter, which underlie plasticity, have no role in morphological and physiological innovations other than specifying the boundaries of the forms that are possible.
6. The targets of selection are individuals, which are well-defined entities. Although conspecifics in groups interact and may co-evolve with each other as well as with their symbionts and parasites, group selection and community selection are rare. Species selection may exist but is of marginal significance. The community is only rarely a target of selection, and species selection cannot explain the main patterns of macroevolution.
7. Evolution occurs through modifications from a common ancestor, and is based on vertical descent. Horizontal transfer of genes or other types of information has only minor significance, and does not alter the basic branching structure of phylogenies. The main pattern of evolutionary divergence is, at all times and for all taxa, tree-like, not web-like.

Biologists are now questioning each of these assumptions, arguing that:
1. Heredity involves more than DNA. There are heritable variations that are independent of variations in DNA sequence, and they have a degree of autonomy from DNA variations. These non-DNA variations can form an additional substrate for evolutionary change, and also guide genetic evolution (Jablonka and Lamb, 1995, 2005; Jablonka and Raz, in press).
2. Soft inheritance, the inheritance of developmentally induced and regulated variations, exists and is likely to be important. It involves both non-DNA variations and developmentally-induced variations in DNA sequences (Jablonka and Lamb, 2005, 2008).
3. The rate at which heritable variations appear is sometimes higher in stressful conditions, and the spectrum of variations may be different, involving amplification, transposition, and massive, heritable, gene-activation and inactivation (see for example Levy and Feldman, 2004; Cullis, 2005). Such changes can lead to saltational evolution (Jablonka and Lamb, 2008; Lamm and Jablonka, 2008). Furthermore, variations in the expression and organization of a small set of genes that seems to be common to the development in all animal phyla can have dramatic phenotypic effects (Carroll, 2005). Macroevolution may be a consequence of changes in these core genes as well as the operation of stress-induced mechanisms that result in systemic mutations and genome re-patterning.
4. It is the network of developmental interactions, rather than the gene, that is the focus of selection. A gene’s expression and the scope of its effects depend not only on its own intrinsic nature, but also – and often much more – on the regulatory structure of the developmental network in which it is integrated (Wilkins, 2002; West-Eberhard, 2003; Wray, Purugganam and Gavrilets, chapter ??). Developmental networks are commonly modular, and are usually stable during phenotypic evolution.
5. Generic and evolved mechanisms that generate phenotypic plasticity have played a major role in evolution, initiating morphological and behavioral transformations (Forgács and Newman, 2005; Kirschner and Gerhard, 2005; Newman and Müller, 2006; Newman, chapter?; Müller, chapter ?; Kirschner, chapter ?; Pigliucci, chapter ?).
6. Group selection, involving selection of interactions among cooperating group members, is common (Sober and Wilson, 1998; Wilson, chapter ?). Since many organisms (including humans) contain symbionts and parasites that are transferred from one generation of the “host” to the next, it may be necessary to consider such communities as targets of selection (Zilber-Rosenberg and Rosenberg, 2008). Many patterns of macroevolutionary change are the outcome of selection at the species level and above (Jablonski, 2005, chapter ?).
7. The “Tree Of Life” pattern of divergence, which was supposed to be universal, fails to explain all the sources of similarities and differences between taxa. Sharing whole genomes (through hybridization, symbiosis and parasitism) and partial exchange of genomes (through various types of horizontal gene transfer) lead to web-like patterns of relations (Arnold, 2006; Goldenfeld and Woese, 2007). These web-like patterns are particularly evident in some taxa (e.g. plants, bacteria), and in special circumstances (e.g. during the initial stages that follow genome sharing or transfer). Co-evolution between viruses, and between viruses and their cellularized hosts, is an ongoing feature of evolution (Villarreal, 2005).
In this chapter we are focusing mainly on the first two of these challenges and some aspects of the third, but epigenetic inheritance undoubtedly also has significant implications for all of the other challenges to the Modern Synthesis that we have listed.

The epigenetic turn
Epigenetic-oriented approaches to evolution all have the developing phenotype rather than the gene as their starting point, and focus on aspects of development that lead to flexibility and adjustment when the environment or the genome changes. Although their roots are old, these approaches became influential during the 1990s, and today are an important part of the alternative view of evolution that is taking shape. We call this revival, extension and elaboration of epigenetic approaches to evolution the “epigenetic turn.”


http://www.mfo.ac.uk/files/images/Jablonka-ms_MPGM_EEEMclean.doc

now expanded into
Jablonka et al. Transgenerational Epigenetic Inheritance: Prevalence, Mechanisms, and Implications for the Study of Heredity and Evolution. The Quarterly Review of Biology, 2009; 84 (2): 131 DOI: 10.1086/598822