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Afternoon session 07.23.09 July 23, 2009

Posted by Scott Erdley in conference, education, health informatics, SINI2009, speaker, USA.
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Concurrent session 2, Jim Turley, titled “The impact of genomics on nursing care”. In the nether region of the School of Nursing (7th floor). Good attendance despite weather (very rainy – pouring more like it) and immediately post-lunch (about 17 so far). This is listed in the program as being at the ‘expert’ level. It is a session to generate questions and create discussion more than inform. Future and research involve genomics in health, individuals and society. Health & lifestyle facts indicate controllable variables versus genomics. So, the question, what to focus on? We understand behavior but not how to do it ‘well’ regarding behavior. How much can we txt via genomics and what might be ‘leftover’ or influenced by environment? Fair use is the discriminating question de jour.Presentation

Genomics & new conceptualization of health & illness; genomics -> study of all the genes in human genome together. . . health & disease no longer defined in terms of function (nursing assist with functional ‘things’ of patients); predictive models of intervention before loss of function; need for targeted care; blur boundary of health & chronic illness. One impact is redefinition of nursing role. Carol Bickford offered comment of nursing as a profession that’s ‘a bit conservative’ (to paraphrase). Knowledge of ‘risk state’: a non0symptomatic state after an individual or family is aware of their genetic risk. Treatments (individual, family), communication (other healthcare providers, other family members, and others). Agreement of baseline issues logically leads to traumatic re-definition of roles (for example nurses and informatics specialists) and therefore responsibilities (for example, informaticists and mathematical models of information delivery). Describes history of genetics, therapeutics and nursing. Discussion of examples include simple and not-so-simple genetic disorders. CF is an example of not-so-simple genetic disorder.

Suggests finding a gene on a chromosome map (see NCBI website). Core data site for computational genomics. SNPs is single nucleotide polymorphisms (individual A, T, G, or C). Humans are 99% identical at the level of genetic sequence. Diversity of remaining 1% variation is mostly due to SNPs. Common examploe is apoE and Alzheimer’s incidence. Also is BRCA1 & BRCA2 & breast cancer incidence and or chance thereof. SNPs we can know women at risk for breast cancer & heart disease, risk for PCN allergy, and kids with ASA trigger for asthma. Question – at what point, or when, does this sort of testing become cost effective? How does all of this impact nursing practice? Bedside technology now includes micro-array testing at POC. Given now able to own genetic testing some of the companies currently doing this are listed as examples by Jim. Questions arise, then. Intention and or quality of science, for example. 23andme (https://www.23andme.com/) and decode genetics (http://www.decode.com/) are examples. 23andme also purchased genetic code of Iceland (entire country), which are linked to the emr of Iceland, too.

Some side effects of all of this testing include the Human Genome Project Information site covering a lot of different issues as well as various articles talking about state regulation of this sort of testing (see Wired magazine) to the UK and regulation of genetic testing. Sharing will become more common (between those who can) so eventually a fair amount will be in the public domain. Postulated questions by Jim include the following:

  • How to display a genome?
  • Include in an EHR?
  • What does it MEAN?
  • What do you do while KNOWLEDGE is evolving?
  • Do companies have the right to ‘buy’ the genomic data of a country?
  • Should genomic data be available without a healthcare referral?
  • Does it, genomic data, covered by HIPAA?
  • Should genomic data be PUBLIC? (does social good out weigh privacy?)
  • Should patients be required to ‘share’ genomic data with their clinicians? (family members, insurance companies, employers/potential or actual)
  • Are we ready for a new paradigm of research (where consumers pay and companies reap)?
  • Is it truly a generational problem? (next generation & privacy)

Understanding the human genome project dvd is a nice information resource on many of these issues. See site >>> Excellent presentation and good Q&A with audience at end of session.

UPDATE – a video from Eric Rivedal >>>

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