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« Back to White Paper PageComments on "NHGRI Long-Range Planning"Given the mission of the NHGRI, these are appropriate questions that need to be answered and can be used for future direction. One most important issue that should be integrated throughout is a comprehensive content/information on ELSI (Ethical, Legal and Sociocultural Issues) on genetics data collection and testing for front line health practitioners. This content should include well-developed and consumer-tested evidence-based talking points for consumers and health practitioners. Another issue is the cost factor. In a market-driven economy, private and government sectors should drive the cost of genetics testing down. If we truly value genetics testing as a hope for the future globally we should make it available, accessible, and affordable. In addition, general health care providers, not just physicians or few limited specialized professionals, can understand and explain the results to the public in an understandable way. Information technology can be harnessed such as virtual practice including genetics informed consent, ELSI, collection, recording, chain of custody, testing, analysis, reporting of findings to the consumer, etc. (184) Tuesday, February 24, 2009 5:20 PM A critical factor in implementing genetic testing is convincing people to participate in such testing. Recent legislation may help, but there is still reluctance to provide genetic data that people believe could be used to deny insurance, employment or other opportunities. The public needs to be convinced that genetic testing is risk free. A discussion of this issue could be added to Paper 1 or Paper 3. (185) Tuesday, February 24, 2009 5:34 PM In the NICHD Collaborative Pediatric Critical Care Network, we have had very open and collegial relationships with NHGRI staff who have attended our Steering Committee meetings, and expressed an interest in our work. We are a 10,000 annual-admission collaborative research network with unique ethnicity and geographic distribution, and with a great interest in candidate genes, as well as triggers and patterns of gene expression in critically ill and injured children. While all of our NIGRI contacts have been positive about our work, they have made it clear that their mission really focuses on whole genome analysis studies in large populations, on problems that affect large populations of adults (e.g., colon cancer). So, the ability to support, for example, our look at candidate genes in sepsis (or critical asthma, critical pertussis/pulmonary hypertension, MRSA following influenza, or many other critical conditions) is not present. This means that an important scientific opportunity is being missed, i.e., to look at pathogenesis in the young, at stages in the developmental trajectory before adulthood where such suggested research, in pediatric morbidity and the development of disability, might truly lead to research to improve the health of all children with special needs and chronic illnesses. (186) Tuesday, February 24, 2009 5:36 PM For the points made involving the target individuals/patients, it seems important that the identification of research needs, the research interpretations and clinical applications of genomics, and the education/training of all stakeholders, should acknowledge more strongly the changing dynamics of a person over the lifespan. These dynamics include not only changes during development (e.g., pediatrics as addressed by some comments) and aging, but also after a life-changing list of medical conditions. Those conditions should also include disabilities, not found in any of the papers. (187) Tuesday, February 24, 2009 5:37 PM February 27, 2009 (191) Friday, February 27, 2009 9:55 AM When targeted vectors are able to modify a viable line of stable stem cells the medical needs of small percentage dependent genetic disabilities may be used to help increase the medical chances for success. Orphan diseases may be used to herald dicoveries or to justify funding if there is a known probable outcome that is scientifically justifiable. (222) Monday, March 23, 2009 8:51 AM I just discovered this Site; It is very informative. Keep doing what you do! (225) Thursday, March 26, 2009 12:50 AM I've written columns about this but here's a summary of my thoughts: (250) Wednesday, April 29, 2009 7:36 PM Genome wide functional experiments are now possible, even in challenging primary cells such as neurons. The development of systems to integrate the results of phenotypic screens of the sort done via High Content Screening (HCS), with other assays and public data sources is essential. The lack of established standards within given fields, such as HCS, prevents an easy integration with orthogonal experiments and public data sources such as PubChem or Kegg. The lack of standardized statistical methods to analyze HCS data is also problematic. Developing comprehensive solutions to these problems will require a community effort and workshops including bioinformatics experts, chemical biologists, end-users, equipment manufactures and software providers are likely to be essential. From a business perspective of instrument and software manufacturers, the risk of investing into developing and adopting standardized nomenclatures that will not become the community standard needs to be minimized. Even simple naming conventions of HCS analysis parameters will require some software development effort. This is another reason why a community effort is required. There are many examples of successful community and industry standards. One of the main driving forces and success criteria will be the enormous gain of productivity resulting from the ability to integrate various internal and external data sets and public data sources. This will ultimately improve our ability to development of novel therapeutics for complex indications for which there is no cure or treatment today. (251) Wednesday, April 29, 2009 11:17 PM « Back to White Paper Page |
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