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Title: Biomedical Informatics Year in Review Daniel R. Masys, MD


1
Biomedical Informatics Year in Review
  • Daniel R. Masys, MD
  • Professor and Chair
  • Department of Biomedical Informatics
  • Professor of Medicine
  • Vanderbilt University School of Medicine

2
2007 Year in ReviewContent for this session is
athttp//dbmichair.mc.vanderbilt.edu/amia2007/
including citation lists and linksand this
PowerPoint
3
Design for this Session
  • Modeled on American College of Physician Update
    sessions
  • Emphasis on what it is and why it is
    important
  • 1-2 examples of each in detail and others in
    synopsis
  • Audience interaction for each category of item
    discussed

4
Source of Content for Session
  • Literature review of RCTs indexed by MeSH term
    Medical Informatics, Telemedicine
    descendents or main MeSH term Bioinformatics,
    and publication date between November 2006 and
    October 2007 (n42), further qualified by
    involvement of gt100 providers or patients
  • Poll of American College of Medical Informatics
    fellows list

5
Thanks to
It takes a village
  • Betsy Humphreys
  • George Hripcsak
  • Bonnie Kaplan
  • Denis Protti
  • Don Simborg
  • David States
  • Paul Tang
  • Mark Tuttle
  • William Yasnoff
  • Rebecca Jerome
  • Andrew Balas
  • Marion Ball
  • Dominic Covvey
  • Robert Dolin
  • Sherrilynne Fuller
  • Terri Hannan
  • Brian Haynes
  • Bill Hersh

6
Topics
  • Representative New Literature
  • Notable Events the Top Ten list

7
New Literature Highlights Clinical Informatics
  • Unintended consequences of clinical information
    technology
  • Clinical Decision Support
  • Telemedicine
  • The practice of informatics

8
New Literature Highlights Bioinformatics and
Computational Biology
  • Human Health and Disease
  • The practice of bioinformatics

9
Unintended consequences of clinical information
technology
10
(No Transcript)
11
Unintended Consequences of Information
Technologies
  • Reference
  • Linder et al., Arch Intern Med. 2007 Jul
    9167(13)1400-5. Brigham Womens Hospital
  • Title
  • Electronic health record use and the quality of
    ambulatory care in the United States.
  • Aim
  • Assess effects of Electronic Health Records on
    quality of care delivered in ambulatory settings
  • Methods
  • Retrospective, cross-sectional analysis of 17
    quality measures from 2003-2004 National
    Ambulatory Medical Care Survey, correlated with
    use of EHRs.

12
Unintended Consequences of Information
Technologies
  • Reference
  • Linder et al., Arch Intern Med. 2007 Jul
    9167(13)1400-5.
  • Results
  • EHRs used in 18 of 1.8 billion visits
  • For 14 of 17 quality measures, fraction of visits
    where recommended best practice occurred was no
    different in EHR settings than manual records
    settings.
  • 2 better with EHR avoiding benzodiazepines in
    depression, avoiding routine urinalysis
  • 1 worse with EHR prescribing statins for
    hypercholesteremia (33 vs. 47, p0.01)
  • Conclusion
  • As implemented, EHRs not associated with better
    quality ambulatory care

13
Unintended Consequences of Information
Technologies
  • Reference
  • Linder et al., Arch Intern Med. 2007 Jul
    9167(13)1400-5.
  • Importance
  • Received disproportionate media attention due to
    reactionary message
  • Lost in the media hype Less than 40 of EHR
    implementations have all elements important for
    effects on quality (e-prescribing, test ordering,
    results, clinical notes, decision support).
  • Best performance regardless of infrastructure was
    suboptimal (lt 50 adherence to best practice).

14
Clinical Decision Support for Providers
  • Reference
  • Raebel MA et al. J Am Geriatr Soc. 2007
    Jul55(7)977-85. Kaiser Permanente, Denver,
    Colorado
  • Title
  • Randomized trial to improve prescribing safety in
    ambulatory elderly patients.
  • Aim
  • To determine whether a computerized tool that
    alerted pharmacists when patients aged 65 and
    older were newly prescribed potentially
    inappropriate medications was effective in
    decreasing the proportion of patients dispensed
    these medications.
  • Methods
  • 60,000 pts randomized evenly in intervention
    group pharmacists got e-alerts for 11 types of
    medication

15
Clinical Decision Support for Providers
  • Reference
  • Raebel MA et al J Am Geriatr Soc. 2007
    Jul55(7)977-85.
  • Results
  • Over 1 year, 543 (1.8) of intervention groups
    over age 65 were prescribed targeted meds, vs.
    644 (2.2) of usual care group (P 0.002)
  • Statistically significant drop in use of
    amitryptiline and diazepam.
  • Importance
  • Adds to extensive literature on reducing Adverse
    Drug Effects via alerts and reminders
  • Targeting healthcare team members who can modify
    physician orders has beneficial effect
  • Note Similar design study of meds during
    pregnancy reported in JAMIA July-Aug 2007

16
Clinical Decision Support for Providers
  • Reference
  • Bailey T et al. Arch Intern Med. 2007 Mar
    26167(6)586-90. Wash U., St. Louis
  • Title
  • An intervention to improve secondary prevention
    of coronary heart disease.
  • Aim
  • Determine whether alerts sent to pharmacists,
    combined with academic detailing by
    pharamacists, change physician prescribing
    behavior.
  • Methods
  • RCT randomizing patients with acute MI in
    hospital setting to alerts sent to pharmacist
    based on elevated troponin I levels. Pharmacists
    receiving alerts reviewed inpt meds list and
    communicated with care providers.

17
Clinical Decision Support for Providers
  • Reference
  • Bailey T et al. Arch Intern Med. 2007 Mar
    26167(6)586-90.
  • Methods, contd
  • Outcome measures proportion of Pts discharged on
    ASA, beta-blockers, ACE inhibitors, and statins.
  • Results
  • Improved compliance with ACE and statin
    guidelines, no impact on beta blockers or ASA.
  • When all 4 classes of drugs considered together,
    84 (305 of 365 eligible) intervention vs. 70
    (343 of 488) in control received recommended
    therapy (Plt0.001)
  • Importance
  • Routing messages to pharmacists, combined with
    academic detailing, provides useful model for
    systematic improvements in care

18
Clinical Decision Support
  • Reference
  • Chaudhry R et al. Arch Intern Med. 2007 Mar
    26167(6)606-11. Mayo Clinic
  • Title
  • Web-based proactive system to improve breast
    cancer screening a randomized controlled trial.
  • Aim
  • Improve mammography screening rates using alerts
    and reminders directed at appointment
    secretaries.
  • Methods
  • Web-based preventive care reminder system created
    to alert staff making appointments about
    screening mammography.
  • 6600 patients signed up for study, randomized to
    usual care or use of system that sent a letter or
    e-mail message in advance of screening data, and
    provided response status to appt. secretary.

19
Clinical Decision Support
  • Reference
  • Chaudhry R et al. Arch Intern Med. 2007 Mar
    26167(6)606-11.
  • Results
  • Screening rate for annual mammography was 64 in
    intervention group vs. 55 in control group
    (Plt.001)
  • No difference in intervention vs. control on any
    other preventive service.
  • Conclusion
  • Practice re-design to send reminder messages to
    appointment secretary rather than to physician
    provider improved compliance with preventive care
    services guidelines.
  • Importance
  • More evidence that care team members other than
    physicians are better targets for information
    interventions designed to increase consistency of
    care.

20
Clinical Decision Support for Providers
  • 3 RCTs on Tobacco Cessation
  • Unrod et al. Randomized controlled trial of a
    computer-based, tailored intervention to increase
    smoking cessation counseling by primary care
    physicians. J Gen Intern Med. 2007
    Apr22(4)478-84. Mt. Sinai, NYC
  • Wadland WC et al Practice-based referrals to a
    tobacco cessation quit line assessing the impact
    of comparative feedback vs general reminders. Ann
    Fam Med. 2007 Mar-Apr5(2)135-42. Michigan
    State
  • Bentz CJ et al. Provider feedback to improve 5A's
    tobacco cessation in primary care a cluster
    randomized clinical trial. Nicotine Tob Res. 2007
    Mar9(3)341-9. Providence/St. Vincent,
    Portland, OR

21
Clinical Decision Support for Providers
  • Methods
  • Mt. Sinai study Computer tailored one page
    summary to physician and patient re Smoking
    Cessation Guidelines (5As Assess, Advise,
    Assist-written, Assist-referral, Arrange).
    Measured adherence to 5As guidelines, and
    smoking cessation success at 6 months
  • MSU study Provider specific feedback on smoking
    cessation referrals vs. general reminders.
    Measured referral numbers and quit rate at 18
    months.
  • Providence Portland study Provider specific
    monthly feedback reports vs. no feedback from
    state tobacco quitline.

22
Clinical Decision Support for Providers
  • Results
  • All three studies showed statistically improved
    compliance with 5As guidelines by providers and
    increased in referrals for cessation help (Odds
    ratios 2.7 5)
  • All showed increased numbers of patients quitting
    smoking at borderline statistical significance
    levels vs. control groups
  • Conclusion
  • Modest positive impacts of proactive (tailored
    information sheet) and retrospective (regular
    feedback reports on numbers of referrals) smoking
    cessation interventions
  • Interventions judged to be cost effective and are
    continuing
  • Importance
  • Approximately the same results in a CDSS area
    (smoking cessation) from three different sites
    with similar intervention and process/outcomes
    measures
  • Information intervention necessary but not
    sufficient to achieve optimal outcomes

23
Clinical Decision Support for Providers
  • Reference
  • Rothschild JM, et. al. Transfusion. 2007
    Feb47(2)228-39. Brigham and Womens, Boston
  • Title
  • Assessment of education and computerized decision
    support interventions for improving transfusion
    practice.
  • Aim
  • Reduce overuse of blood products via a CDSS
    intervention.
  • Methods
  • Random assignment of junior house officers to
    receiving education and CPOE-based decision
    support at time of ordering blood products.
  • Orders classified as DS-agree or DS-disagree
  • DS-disagree charts reviewed for appropriateness

24
Clinical Decision Support for Providers
  • Reference
  • Rothschild JM, et. al. Transfusion. 2007
    Feb47(2)228-39.
  • Results
  • Inappropriate non-emergent transfusion at
    baseline was 72 in both interventional and
    control groups.
  • Improved to 63 with conventional education.
  • DS intervention group continued to improve to
    59.
  • Physicians accepted 14 of DS-recommended orders,
    especially recommendations to increase dose
    (73).
  • Conclusion
  • Education and CDSS had statistically significant
    reduction of inappropriate transfusion orders,
    though residual amount remained high.
  • Impact
  • Dont be sanguine about expecting CDSS to change
    prescribing

25
Clinical Decision Support for Providers
  • Reference
  • Kheterpal et al. Anesth Analg. 2007
    Mar104(3)592-7. Univ. Michigan
  • Title
  • Electronic reminders improve procedure
    documentation compliance and professional fee
    reimbursement.
  • Aim
  • To evaluate alert system to improve documentation
    of care for increased reimbursement.
  • Methods
  • Automated system scanned EMR for surgical
    procedures using arterial catheters, sent e-mail
    and/or pager reminder to provider if no procedure
    note about catheter placement.
  • Residents and CRN anesthetists randomized to msg
    or no msg

26
Clinical Decision Support for Providers
  • Reference
  • Kheterpal et al. Anesth Analg. 2007
    Mar104(3)592-7.
  • Results
  • Baseline compliance rate 80
  • During 2 month study, 88 of intervention group
    completed documentation requirements vs. 75 of
    control.
  • After RCT ended, all staff got reminder and
    compliance rose to 98
  • Professional fee reimbursement projected to
    increase 40,500 over 12 months.
  • Conclusion
  • Documentation deficiencies amenable to
    alerts/reminders
  • Impact
  • ADSS works in a fashion similar to CDSS, perhaps
    better

27
Clinical Decision Support for Patients
  • Reference
  • Thompson RG et al. Qual Saf Health Care. 2007
    Jun16(3)216-23. Univ Newcastle, UK
  • Title
  • A patient decision aid to support shared
    decision-making on anti-thrombotic treatment of
    patients with atrial fibrillation randomised
    controlled trial.
  • Aim
  • To determine the efficacy of a computerised
    decision aid in patients with atrial fibrillation
    making decisions on whether to take warfarin or
    aspirin therapy.
  • Methods
  • 109 Pts with a. fib randomized to computerized
    DSS vs. pamphlet on ASA vs. warfarin
  • Outcomes decision conflict scale, and therapy
    choice

28
Clinical Decision Support for Patients
  • Reference
  • Thompson RG et al. Qual Saf Health Care. 2007
    Jun16(3)216-23.
  • Results
  • Decision conflict lower in CDSS group (ie.,
    happier with decision made)
  • CDSS Pts agreed to start coumadin only 25 of
    time when recommended by physician, vs. 94 of
    printed guidelines group
  • Conclusion
  • CDSS for patients can empower them to feel
    comfortable about decisions that are medically
    suboptimal
  • Impact
  • Increased understanding mediated by CDSS systems
    is a double edged sword

29
Clinical Decision Support for Patients
  • Reference
  • Saitz R et al. Alcohol Alcohol. 2007
    Jan-Feb42(1)28-36. Boston Univ.
  • Title
  • Screening and brief intervention online for
    college students the ihealth study.
  • Aim
  • To test the feasibility of online alcohol
    screening and brief intervention (BI) by
    comparing (i) two approaches to inviting all
    students to be screened, and (ii) a minimal
    versus a more extensive BI.
  • Methods
  • All freshman students(4008) sent one of two
    e-mail invitations to participate in alcohol
    counseling online application either invitation
    for general health assessment, or invitation for
    alcohol assessment

30
Clinical Decision Support for Patients
  • Reference
  • Saitz R et al. Alcohol Alcohol. 2007
    Jan-Feb42(1)28-36
  • Methods, contd
  • Participants with unhealthy alcohol use randomly
    assigned to minimal or more extensive information
    intervention
  • Follow-up after one month for those receiving
    interventions
  • Results
  • 55 of students completed online screening, no
    difference if invitation specifically mentioned
    alcohol vs. general health.
  • 37 of male students and 26 of female students
    had unhealthy alcohol use.
  • More extensive intervention caused more students
    to expression interest in changing behavior
  • 75 of intervention completed second assessment,
    and of these unhealthy behaviors reduced by 33
    in women and 15 in men.

31
Clinical Decision Support for Patients
  • Reference
  • Saitz R et al. Alcohol Alcohol. 2007
    Jan-Feb42(1)28-36
  • Conclusion
  • Over half of freshman class reached by e-mail and
    completed health risk assessment
  • Mention of alcohol not a deterrent to
    participation
  • Brief online intervention appeared to have
    favorable short term impact.
  • Impact
  • Contibutes to literature on self-reporting of
    health conditions traditionally considered
    stigmatizing

32
Clinical Decision Support for Patients
  • 2 RCTs on Smoking Cessation
  • Strecher VJ et al. Moderators and mediators of a
    web-based computer-tailored smoking cessation
    program among nicotine patch users. Nicotine Tob
    Res. 2006 Dec8 Suppl 1S95-101. Univ. Michigan
  • Japuntich et al. Smoking cessation via the
    internet a randomized clinical trial of an
    internet intervention as adjuvant treatment in a
    smoking cessation intervention. Nicotine Tob Res.
    2006 Dec8 Suppl 1S59-67. Univ Wisconsin
    Madison

33
Clinical Decision Support for Patients
  • Methods
  • Michigan study 3971 smokers who purchased
    nicotine patches randomized to standard web-based
    materials vs. tailored web intervention.Measured
    abstinence at 12 weeks.
  • Wisconsin study 284 smokers randomized to
    bupropion counseling /- access to an online
    support group and information site. Measured
    abstinence at 12 weeks and 24 weeks.

34
Clinical Decision Support for Patients
  • Results
  • Michigan study found tailored program more
    effective by number abstinent in certain
    subgroups (children at home, frequent alcohol
    use, tobacco-related illness present) but not
    significant for groups as whole
  • Wisconsin study found use of online resources
    correlated with smoking abstinence, but no
    overall difference in abstinence between groups.
  • Conclusion
  • Targeted information interventions help a subset
    of smokers to quit who would not otherwise
  • Importance
  • Addiction interventions are a difficult area of
    therapeutics, for which informatics has a modest
    role to play

35
New CDSS RCTs showing no difference for
intervention vs. control
  • Curtis et al. Challenges in improving the quality
    of osteoporosis care for long-term glucocorticoid
    users a prospective randomized trial. Arch
    Intern Med. 2007 Mar 26167(6)591-6.
  • Glassman et al. The utility of adding
    retrospective medication profiling to
    computerized provider order entry in an
    ambulatory care population. J Am Med Inform
    Assoc. 2007 Jul-Aug14(4)424-31.
  • Schapira et al. Decision-making at menopause a
    randomized controlled trial of a computer-based
    hormone therapy decision-aid. Patient Educ Couns.
    2007 Jul67(1-2)100-7.
  • Tuil et al. Empowering patients undergoing in
    vitro fertilization by providing Internet access
    to medical data. Fertil Steril. 2007
    Aug88(2)361-8.

36
Clinical Decision Support
  • Questions and Comments

37
Telemedicine
  • 12 new RCTs published
  • November 2006 October 2007
  • 3 chronic airways disease
  • 2 psychiatric care
  • 2 diabetes care
  • 2 imaging dermatology and ophthalmology
  • 1 each prostate cancer, cardiac rehab,
    hypertension

38
Telemedicine
  • 3 RCTs on airways disease
  • Chan DS et al. Internet-based home monitoring
    and education of children with asthma is
    comparable to ideal office-based care results of
    a 1-year asthma in-home monitoring trial.
    Pediatrics. 2007 Mar119(3)569-78. Tripler Army
    Medical Center, Honolulu
  • Jan RL et al. An internet-based interactive
    telemonitoring system for improving childhood
    asthma outcomes in Taiwan. Telemed J E Health.
    2007 Jun13(3)257-68. National Cheng Kung
    University, Taiwan
  • Whitten P, Mickus M. Home telecare for COPD/CHF
    patients outcomes and perceptions. J Telemed
    Telecare. 2007 13(2)69-73. Michigan State
    University

39
Telemedicine
  • Methods
  • Tripler study 120 asthma pts age 6-17 randomized
    to same clinical pathway with follow-up either
    via office visit or website interaction. Measured
    medication adherence, PFTs
  • Taiwan study 88 asthma pts randomized to either
    Internet care guidance and spirometry reporting,
    or printed materials and spirometry diary.
    Measured self-reported symptoms, spirometry
    results, quality of life, knowledge of disease
  • Michigan State study 161 pts with COPD/CHF
    randomized to home care visits in person or via
    telemedicine unit. Measured SF-36, patient
    perceptions, physiologic status at beginning and
    end of study.

40
Telemedicine
  • Results
  • Taiwanese study found telemedicine group had
    better adherence to meds, better PFTs.
  • Other two studies found clinical equivalence of
    telemedicine and face-to-face visits at home or
    office
  • Impact
  • Adds to substantial literature showing
    therapeutic equivalency of telemedicine vs. in
    person monitoring of chronic airways disease.

41
Telepsychiatry
  • 2 RCTs
  • Fortney JC et al. A randomized trial of
    telemedicine-based collaborative care for
    depression. J Gen Intern Med. 2007
    Aug22(8)1086-93. Epub 2007 May 10. VA Health
    Svcs Research, Little Rock AR
  • O'Reilly R. Is telepsychiatry equivalent to
    face-to-face psychiatry? Results from a
    randomized controlled equivalence trial.
    Psychiatr Serv. 2007 Jun58(6)836-43. Regional
    Mental Healthcare, London, Ontario, Canada

42
Telepsychiatry
  • Methods
  • VA study 395 pts with moderately severe
    depression followed at small VA community clinics
    without psychiatrists. Measured med adherence,
    treatment response, quality of life, pt
    satisfaction with treatment.
  • Canadian study 495 pts referred for initial
    psych consultation randomized to telepsych
    interview or face-to-face consult. Measured
    health status, patient satisfaction, costs

43
Telepsychiatry
  • Results
  • VA study supplementing usual care with
    telemedicine psych consultation improved
    medication adherence and therapeutic response.
    Also found higher patient satisfaction, and
    better quality of life measures in intervention
    group.
  • Canadian study found equivalence for
    telepsychiatry outcomes and face to face
    outcomes, with 10 decrease in overall costs for
    telemedicine based care.
  • Impact
  • Telemedicine technologies can extend subspecialty
    support to primary care settings
  • Telepsychiatry equivalent to F2F as perceived by
    Pts

44
Tele-imaging
  • 2 RCTs
  • Conlin PR et al. Nonmydriatic teleretinal
    imaging improves adherence to annual eye
    examinations in patients with diabetes. J Rehabil
    Res Dev. 2006 Sep-Oct43(6)733-40. Boston VA
  • Pak H, et al. Store-and-forward teledermatology
    results in similar clinical outcomes to
    conventional clinic-based care. J Telemed
    Telecare. 200713(1)26-30. Army TATRC, Fort
    Dietrick MD

45
Tele-imaging
  • Methods
  • VA study 448 pts randomized to annual dilated
    eye exam vs. non-dilated screening image with
    remote interpretation, followed by in person
    consult if indicated. Measured correspondence of
    remote and in person findings, and adherence to
    annual exam schedule
  • Army study 776 pts randomized to face-to-face
    dermatology consult vs. telemedicine via store
    and forward imaging text description

46
Tele-imaging
  • Results
  • VA study Strong but not perfect correlation of
    tele-imaging with dilated in person exam.
    Improvement in compliance with annual screening.
    Patient acceptance high.
  • Army study found equivalence of diagnosis and
    ongoing monitoring of response to therapy for
    teledermatology and in person care.
  • Impact
  • Store and forward telemedicine lends itself well
    to specialties where static images are keys to
    diagnosis and follow-up

47
2006-7 Telemedicine RCTs
  • Continue 30 year history of showing equivalence
    of telemedicine for selected types of home
    monitoring, chronic disease follow-up, and visual
    diagnosis
  • Only 1 of 12 addressed cost vs. benefit
  • Leave unaddressed principal historical
    impediments to telemedicine acceptance
    reimbursement, licensure, liability

48
Telemedicine
  • Questions and Comments

49
Practice of Informatics
  • Reference
  • Beebe TJ et al. Health Serv Res. 2007 Jun42(3
    Pt 1)1219-34. Mayo Clinic
  • Title
  • Mixing web and mail methods in a survey of
    physicians.
  • Aim
  • To assess the effects of two different mixed-mode
    (mail and web survey) combinations on response
    rates, response times, and nonresponse bias in a
    sample of primary care and specialty internal
    medicine physicians.
  • Methods
  • Randomized 500 physicians at Mayo clinic to
    receiving either a mailed paper survey on EMR, or
    web link for online survey, with cross over.

50
Practice of Informatics
  • Reference
  • Beebe TJ et al. Health Serv Res. 2007 Jun42(3
    Pt 1)1219-34.
  • Results
  • Overall response rate higher with mailed survey
    sent first than web link sent first (70 vs.
    63).
  • Results obtained 2 days faster with web survey
  • Key outcome variables no different in paper vs.
    web survey methods
  • Impact
  • Some insight on approaches to surveying
    physicians in large institutional setting

51
Practice of Informatics
  • Reference
  • Tideman R et al. Sex Transm Infect. 2007
    Feb83(1)52-6. Univ. of Melbourne, Australia
  • Title
  • A randomised controlled trial comparing
    computer-assisted with face-to-face sexual
    history taking in a clinical setting.
  • Aim
  • To compare computer-assisted self-interview
    (CASI) with routine face-to-face interview (FTFI)
    for sexual history taking from patients in a
    clinical setting.
  • Methods
  • Randomized 713 new walk-in patients at STD clinic
    to CASI or FTFI initial assessment. CASI
    subsequently had FTFI.

52
Practice of Informatics
  • Reference
  • Tideman R et al. Sex Transm Infect. 2007 Feb
    83(1)52-6.
  • Methods, contd
  • Comparison of self-reported risk behaviors,
    concordance of CASI and FTFI assessments.
  • Results
  • 85 of CASI pts comfortable with method
  • Results equivalent except that women using CASI
    reported more male partners than in FTFI setting,
    and CASI users reported Hep B vaccination more
    often.
  • Conclusion
  • CASI efficient and acceptable method for
    gathering sexual risk data in STD clinic setting

53
Practice of Informatics
  • Reference
  • Bates B, et al. J Cancer Educ. 2007
    Spring22(1)15-20. Ohio Univ.
  • Title
  • The effect of improved readability scores on
    consumers' perceptions of the quality of health
    information on the internet.
  • Methods
  • 519 community participants randomized to receive
    lung cancer prevention level at 8th grade reading
    level, 9th grade, or first year college reading
    level.
  • Measured perceived trustworthiness, readability,
    completeness.

54
Practice of Informatics
  • Reference
  • Bates B, et al. J Cancer Educ. 2007
    Spring22(1)15-20.
  • Results
  • Reducing reading level had no significant effect
    on perceived readability, trustworthiness, or
    completeness.
  • Conclusion
  • Conventional wisdom about relationship of
    readability and effectiveness not supported in
    this study
  • Importance
  • Of potential relevance to IRBs and guidelines for
    informed consent documentation

55
Practice of Informatics
  • Reference
  • Schneider S. et al. Oncol Nurs Forum. 2007
    Jan34(1)39-46. Duke Univ.
  • Title
  • Virtual reality a distraction intervention for
    chemotherapy.
  • Aim
  • To explore virtual reality (VR) as a distraction
    intervention to relieve symptom distress in
    adults receiving chemotherapy treatments for
    breast, colon, and lung cancer.
  • Methods
  • 123 patients in cross-over design, serving as own
    control. Received Virtual Reality headset as
    distraction during chemotherapy at one visit, and
    not the next.

56
Practice of Informatics
  • Reference
  • Schneider S. et al. Oncol Nurs Forum. 2007
    Jan34(1)39-46..
  • Methods, contd
  • Measured symptom distress, fatigue, anxiety, open
    ended questionnaire regarding experience.
  • Results
  • Using VR made chemotherapy treatment seem shorter
    and pts liked VR treatment sessions better than
    std.
  • However, no difference in symptom distress
    immediately or at 2 days post treatment

57
Practice of Informatics
  • Reference
  • Schneider S. et al. Oncol Nurs Forum. 2007
    Jan34(1)39-46..
  • Conclusions
  • VR distraction can make chemotherapy treatments
    more palatable but do not decrease
    therapy-associated symptoms
  • Impact
  • Pharmacology trumps perceptual psychology in
    chemotherapy settings

58
Practice of Informatics
  • Questions and Comments

59
New Literature Highlights Bioinformatics and
Computational Biology
  • Human Health and Disease
  • The practice of bioinformatics

60
Bioinformatics Human Health Disease
  • Reference
  • The Wellcome Trust Case Control Consortium.
    Nature 447, 661-678 (7 June 2007)
  • Title
  • Genome-wide association study of 14,000 cases of
    seven common diseases and 3,000 shared controls.
  • Aim
  • To find genetic determinants of 7 major diseases
    using single nucleotide polymorphism (SNP)
    assessments at 500,000 loci, in 14,000 patients
  • Methods
  • 54 centers in UK enrolled 14,000 volunteers,
    whose DNA was genotyped with Affymetrix 500K SNP
    chip.
  • Case control study design

61
Bioinformatics Human Health Disease
  • Reference
  • The Wellcome Trust Case Control Consortium.
    Nature 447, 661-678 (7 June 2007)
  • Results
  • 24 association signals significant at P lt 10e-7
  • 1 in bipolar disorder, 1 in coronary disease, 9
    in Crohns disease, 3 in Rheumatoid arthritis, 7
    in type I diabetes, 3 in type 2 diabetes
  • 58 other SNP polymorphisms with differences at
    10e-5 to 10e-7
  • Importance
  • The era of genome-wide scans has arrived.
  • Personalized medicine based on individual SNPs
    and linked SNP patterns (ie., haplotypes) will
    significantly inform personalized disease
    prevention, diagnosis and treatment
  • Level of complexity will make decision support
    rules and CDSS essential

62
Bioinformatics Human Health Disease
  • Reference
  • Estivill et al. PLoS Genet. 2007 Oct
    193(10)1787-99.
  • Title
  • Copy number variants and common disorders
    filling the gaps and exploring complexity in
    genome-wide association studies.
  • Aim
  • Discussion of contribution of gene Copy Number
    Variation (CNV) to human disorders.
  • Methods
  • Literature review of GWAS studies and
    contribution of CNV to explaining genetic
    diversity

63
Bioinformatics Human Health Disease
  • Reference
  • Estivill et al. PLoS Genet. 2007 Oct
    193(10)1787-99.
  • Results
  • Reduplicated genes account for some of the
    unexplained variation seen in genome-association
    studies.
  • CNVs not detected by standard SNP technologies,
    but have been shown to contribute to genetic
    variance in Parkinsons disease, Alzheimer,
    Autism, retardation, and chronic pancreatitis
  • Importance
  • Copy Number Variation is an important new genetic
    concept that will have relevance in explaining
    complex traits and some diseases

64
Bioinformatics Human Health Disease
  • Reference
  • Levy et al. PLoS Biol 5(10) e254
  • Title
  • The Diploid Genome Sequence of an Individual
    Human.
  • Aim
  • Full genome sequence of J. Craig Venter, compared
    to consensus published human genome sequence
  • Methods
  • Standard DNA sequencing technologies applied to
    single individual rather than small group of
    reference samples

65
Bioinformatics Human Health Disease
  • Reference
  • Levy et al. PLoS Biol 5(10) e254
  • Results
  • Comparing Venters DNA to NCBI reference human
    sequence shows 4.1 million variants 3.2M SNPs,
    53K block substitutions, 292K heterozygous
    insert/delete events (indels), 559K homozygous
    indels
  • Non-SNP variability accounts for 74 of variant
    bases.
  • 44 of all genes heterozygous for 1 or more
    variants
  • Importance
  • Inter-individual variations may be 3-4 fold
    higher than previously estimated (99.5 vs.
    99.9)

66
The Practice of Bioinformatics
  • Reference
  • Duarte N et al. Proc Natl Acad Sci U S A. 2007
    Feb 6104(6)1777-82. UC San Diego
  • Title
  • Global reconstruction of the human metabolic
    network based on genomic and bibliomic data.
  • Aim
  • Develop a computationally tractable, complete map
    of human metabolism
  • Methods
  • Combine genome annotations of complete human
    genome with 50 years of published literature
    (bibliome) on human metabolic pathways.

67
Bioinformatics Practice of Bioinformatics
  • Reference
  • Duarte N et al. Proc Natl Acad Sci U S A. 2007
    Feb 6104(6)1777-82.
  • Results
  • Systems biology project to create in silico model
    of all metabolic pathways in humans, and their
    genetic determinants
  • Mathematical network analysis of resulting
    relationships show biological insights about
    intracellular compartmentalization (e.g., drug
    accessibility) and many gaps in understanding of
    relationships among metabolic pathways
  • Importance
  • An example of new systems biology tools that
    combine mathematical analysis techniques with
    knowledge derived from the published literature
  • Traditional intermediary metabolism pathways
    (e.g., Sigma chart of cell) have many unexplained
    gaps

68
The Practice of Bioinformatics
  • Reference
  • Lim WK et al. Bioinformatics. 2007 Jul
    123(13)i282-8.Columbia Univ.
  • Title
  • Comparative analysis of microarray normalization
    procedures effects on reverse engineering gene
    networks.
  • Aim
  • Develop a more appropriate method for normalizing
    gene expression data for reconstructing gene
    networks
  • Methods
  • Comparison of commonly used algorithms for
    rendering data from different Affymetrix genechip
    experiments comparable

69
Bioinformatics Practice of Bioinformatics
  • Reference
  • Lim WK et al. Bioinformatics. 2007 Jul
    123(13)i282-8.
  • Results
  • Genechips designed for pairwise comparison of
    gene expression values. Inferring complex
    network relationships is an off-label use that
    can be affected by methodologic errors of
    normalization
  • A better normalization algorithm developed at
    Columbias DBMI is presented
  • Importance
  • Mathematics of high dimensionality data from
    genechips is complex
  • Systems biology requires careful attention to
    making data from multiple experiments comparable

70
The Practice of Bioinformatics
  • Reference
  • Bandeira et al. Proc Natl Acad Sci U S A. 2007
    Apr 10104(15)6140-5. UC San Diego
  • Title
  • Protein identification by spectral networks
    analysis.
  • Aim
  • Develop a better method for interpretation of
    mass spectroscopy signals for proteomics
  • Methods
  • Use modified unmodified versions of the same
    peptide to improve speed and efficiency of
    protein identification

71
Bioinformatics Practice of Bioinformatics
  • Reference
  • Bandeira et al. Proc Natl Acad Sci U S A. 2007
    Apr 10104(15)6140-5.
  • Results
  • Converts protein identification from exhaustive
    database searching problem to fast pattern
    matching problem
  • Importance
  • Proteomics is more complex than genomics (25K
    genes generate 400K proteins) and computationally
    challenging
  • Representative of novel algorithms to rapidly
    identify proteins affected by post-translational
    modification

72
Computational Biology and Bioinformatics
  • Questions and Comments

73
Top Ten List of Notable Events in the Past 12
months
74
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006

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Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online

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Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails

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7 International Terminology Standards
Development Organization Formed April 26, 2007
81
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases

82
AMIA RD funding growthGrants and Contracts
(gt50K)
83
AMIA VisibilityMedia Citations
84
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases
  • 5 NIH redefines scope of CTSA program

85
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86
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases
  • 5 NIH redefines scope of CTSA program
  • 4 Publication of J. Craig Venters DNA
    sequence

87
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88
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases
  • 5 NIH redefines scope of CTSA program
  • 4 Publication of J. Craig Venters DNA
    sequence
  • 3 ONC begins plan to transition AHIC to
    private sector

89
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90
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases
  • 5 NIH redefines scope of CTSA program
  • 4 Publication of J. Craig Venters DNA
    sequence
  • 3 ONC begins plan to transition AHIC to
    private sector
  • 2 Microsoft and Google announce plans for
    Personal Health Records

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92
And the 1 top event of 2007 is
93
Top Ten Events
  • 10 Legislation mandates reporting of results
    in Clinicaltrials.gov 12/2006
  • 9 Public access to genome-phenome correlation
    data begins 10/1/2007 NCBI dbGAP database
    online
  • 8 Patient Safety Institute founded in 2001 in
    response to IOM To Error is Human report
    fails
  • 7 International Terminology Standards
    Development Organization Formed
  • 6 AMIA clout and visibility increases
  • 5 NIH redefines scope of CTSA program
  • 4 Publication of J. Craig Venters DNA
    sequence
  • 3 ONC begins plan to transition AHIC to
    private sector
  • 2 Microsoft and Google announce plans for
    Personal Health Records
  • 1 CMS begins program to reward small practices
    for using EHRs

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95
The Year in Review Summary
  • We is confronted by an insurmountable tidal
    wave of opportunity

Pogo
96
Content for this session is athttp//dbmichair.
mc.vanderbilt.edu/amia2007/including citation
lists and linksand this PowerPoint
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