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Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and Chair Department of Biomedical Informatics Professor of Medicine Vanderbilt University School of

Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

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Page 1: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Biomedical Informatics 2010 Year in Review

Notable publications and events in Informatics since the 2009 AMIA Symposium

Daniel R. Masys, MD

Professor and Chair

Department of Biomedical Informatics

Professor of Medicine

Vanderbilt University School of Medicine

Page 2: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Content for this session is at:

http://dbmichair.mc.vanderbilt.edu/amia2010/

including citation lists and linksand this PowerPoint

Page 3: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Index to all Years in Review

http://dbmichair.mc.vanderbilt.edu/amia/

Page 4: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Design for this Session

Modeled on American College of Physician “Update” sessions

Emphasis on ‘what it is’ and ‘why it is important’

Audience interaction for each category of item discussed

Page 5: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Source of Content for Session

Literature review of RCTs indexed by MeSH term “Medical Informatics”, “Telemedicine” & descendents or main MeSH term “Bioinformatics”, and Entrez date between November 2009 and October 2010 further qualified by involvement of >100 providers or patients

Poll of American College of Medical Informatics fellows list

Page 6: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Thanks to:

Rebecca Jerome David Bates George Hripcsak Ken Goodman Bill Hersh Nancy Lorenzi Betsy Humphreys

Don Detmer Blackford Middleton Bonnie Kaplan Nancy Lorenzi Jim Anderson Charlie Safron Dean Sittig

Page 7: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Session components

Representative New Literature Notable Events – the ‘Top Five’ list

Page 8: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

New Literature Highlights: Clinical Informatics

Clinical Decision SupportTelemedicineThe practice of informatics

Page 9: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

New Literature Highlights: Bioinformatics and Computational Biology

Human Health and DiseaseThe practice of bioinformatics

Page 10: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support

49 new RCTs published meeting search criteria

November 2009 – October 2010

Page 11: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Atlas SJ et. al.. J Gen Intern Med. 2010 Sep 15.[Mass General

Hospital, Boston MA] Title

A Cluster-Randomized Trial of a Primary Care Informatics-Based System for Breast Cancer Screening.

Aim To evaluate whether a primary care network-based informatics

intervention can improve breast cancer screening rates. Methods

Cluster-randomized controlled trial of 12 primary care practices conducted from March 20, 2007 to March 19, 2008.

Women 42-69 years old with no record of a mammogram in the prior 2 years.

In intervention practices, a population-based informatics system was implemented that: connected overdue patients to appropriate care providers, presented providers with a Web-based list of their overdue patients in a non-visit-based setting, and enabled "one-click" mammography ordering or documented deferral reasons.

Page 12: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Atlas SJ et. al.. J Gen Intern Med. 2010 Sep 15..

Methods, cont’d Patients selected for mammography received automatically generated

letters and follow-up phone calls. All practices had electronic health record reminders about breast cancer screening available during clinical encounters.

The primary outcome was the proportion of overdue women undergoing mammography at 1-year follow-up.

Results Baseline mammography rates in intervention and control practices did

not differ (79.5% vs 79.3%, p = 0.73). Among 3,054 women in intervention practices and 3,676 women in control practices overdue for mammograms, intervention patients were somewhat younger, more likely to be non-Hispanic white, and have health insurance.

Most intervention providers used the system (65 of 70 providers, 92.9%).

Page 13: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Atlas SJ et. al.. J Gen Intern Med. 2010 Sep 15.

Results, cont’d Action was taken for 2,652 (86.8%) intervention patients [2,274

(74.5%) contacted and 378 (12.4%) deferred]. After 1 year, mammography rates were significantly higher in the intervention arm (31.4% vs 23.3% in control arm, p < 0.001 after adjustment for baseline differences; 8.1% absolute difference, 95% CI 5.1-11.2%).

All demographic subgroups benefited from the intervention. Intervention patients completed screening sooner than control patients (p < 0.001).

Conclusions A novel population-based informatics system functioning as part of a

non-visit-based care model increased mammography screening rates in intervention practices.

Page 14: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Atlas SJ et. al.. J Gen Intern Med. 2010 Sep 15.

Importance Contributes to literature use of prompting systems for preventive care,

using a population based rather than visit based approach to identify those overdue for the preventive measure.

Represents ‘second generation’ CDS alerts and reminders: one-click reponse to solve problem or document override. (But not third generation: ‘closed loop’ CDS with outcome tracking).

Page 15: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Herasevich V et. al.. Crit Care Med. 2010 Oct 14. [Mayo Clinic and UT

HSC Houston] Title

Limiting ventilator-induced lung injury through individual electronic medical record surveillance.

Aim To improve the safety of ventilator care and decrease the risk of

ventilator-induced lung injury, Methods

Authors designed and tested an electronic algorithm that incorporates patient characteristics and ventilator settings, connected to near-real-time notification of bedside providers about potentially injurious ventilator settings, in three Mayo Clinic ICU’s.

Computer system alerted bedside providers via the text paging notification about potentially injurious ventilator settings.

Alert criteria included ventilator settings, CXR findings, various real time ventilator pressures.

Page 16: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Herasevich V et. al.. Crit Care Med. 2010 Oct 14..

Methods, cont’d Ventilator-induced lung injury risk was compared before and after the

introduction of ventilator-induced lung injury alert. . Results

Prevalence of acute lung injury was 42% (n = 490) among 1,159 patients receiving >24 hrs of invasive ventilation.

System sent 111 alerts for 80 patients, with a positive predictive value of 59%.

Exposure to potentially injurious ventilation decreased after the intervention from 40.6 ± 74.6 hrs to 26.9 ± 77.3 hrs (p = .004).

Conclusions Electronic medical record surveillance of mechanically ventilated

patients accurately detects potentially injurious ventilator settings and is able to influence bedside practice at moderate costs.

Page 17: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Herasevich V et. al.. Crit Care Med. 2010 Oct 14.

Conclusions, cont’d System implementation was associated with decreased patient

exposure to potentially injurious mechanical ventilation settings.

Importance, cont’d Extends literature on ‘critical’ and ‘panic’ alerting technologies with

combination of real time data streams from ventilator, natural language processing of CXR text, and real time messaging.

Page 18: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Co JP et. al.. Pediatrics. 2010 Aug;126(2):239-46. Epub 2010 Jul 19..

[Mass General Hospital for Children, Boston] Title

Electronic health record decision support and quality of care for children with ADHD.

Aim To assess the effect of electronic health record (EHR) decision

support on physician management and documentation of care for children with attention-deficit/hyperactivity disorder (ADHD).

Methods Study of 79 general pediatricians in 12 pediatric primary care

practices that use the same EHR who were caring for 412 children who were aged 5 to 18 years and had a previous diagnosis of ADHD.

A cluster randomized trial of EHR-based decision support that included (1) clinician reminders to assess ADHD symptoms every 3 to 6 months and (2) an ADHD note template with structured fields for symptoms, treatment effectiveness, and adverse effects.

Page 19: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Co JP et. al.. Pediatrics. 2010 Aug;126(2):239-46.

Methods, cont’d The main outcome measures were (1) proportion of children with

visits during the 6-month study period in which ADHD was assessed and (2) quality of documentation of ADHD assessment..

Results Children at intervention sites were more likely to have had a visit

during the study period in which their ADHD was assessed. The ADHD template was used at 32% of visits at which patients were

scheduled specifically for ADHD assessment. Template use was associated with improved documentation of

symptoms, treatment effectiveness, and treatment adverse effects. Conclusions

EHR-based decision support improved the likelihood that children with ADHD had visits for as well as care related to managing this condition.

Page 20: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Co JP et. al.. Pediatrics. 2010 Aug;126(2):239-46.

Conclusions, cont’d Better understanding of how to optimize provider use of the decision

support and templates could promote additional improvements in care.

Importance, cont’d Extends literature on patient-specific reminders contributing to

improved consistency and follow-up. Another study showing that templates improve comprehensiveness of

documentation, and the majority of practitioners choose not to use them.

Page 21: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Longhurst CA et. al. Pediatrics. 2010 Jul;126(1):14-21. Epub 2010

May 3. [Stanford University School of Medicine, Palo Alto] Title

Decrease in hospital-wide mortality rate after implementation of a commercially sold computerized physician order entry system.

Aim To determine the effect on the hospital-wide mortality rate after

implementation of CPOE at an academic children's hospital.. Methods

A cohort study with historical controls at a 303-bed, freestanding, quaternary care academic children's hospital.

All nonobstetric inpatients admitted between January 1, 2001, and April 30, 2009, were included.

A total of 80,063 patient discharges were evaluated before the intervention (before November 1, 2007), and 17,432 patient discharges were evaluated after the intervention (on or after November 1, 2007).

Page 22: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Longhurst CA et. al. Pediatrics. 2010 Jul;126(1):14-21..

Methods, cont’d On November 4, 2007, the hospital implemented locally modified

functionality within a commercially sold electronic medical record to support CPOE and electronic nursing documentation..

Results After CPOE implementation, the mean monthly adjusted mortality rate

decreased by 20% (1.008-0.716 deaths per 100 discharges per month unadjusted [95% confidence interval: 0.8%-40%]; P = .03).

With observed versus expected mortality-rate estimates, results suggested that CPOE implementation may have resulted in 36 fewer deaths over the 18-month post-implementation time frame..

Conclusions Implementation of a locally modified, commercially sold CPOE system

was associated with a statistically significant reduction in the hospital-wide mortality rate at a quaternary care academic children's hospital.

Page 23: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Longhurst CA et. al. Pediatrics. 2010 Jul;126(1):14-21.

Importance Most CPOE results in the informatics literature are from customized

home-grown systems. Paper shows positive results obtainable from a commercial system.

“Big bang” implementation similar to a widely reported ‘unintended consequences article by Han in 2005 that showed increased mortality in academic pediatric hospital. That was a media event. This paper was not.

Page 24: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Schnipper JL et. al. Endocr Pract. 2010 Mar-Apr;16(2):209-18.

[Brigham and Women’s hospital, Boston] Title

Effects of a computerized order set on the inpatient management of hyperglycemia: a cluster-randomized controlled trial.

Aim To determine the effects of a computerized order set on the inpatient

management of diabetes and hyperglycemia.. Methods

Cluster-randomized controlled trial on general medical service of an academic medical center staffed by residents and hospitalists.

Consecutively enrolled patients with diabetes mellitus or inpatient hyperglycemia were randomized on the basis of their medical team to usual care (control group) or an admission order set built into the hospital's computer provider order entry (CPOE) system (intervention group).

All teams received a detailed subcutaneous insulin protocol and case-based education.

Page 25: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Schnipper JL et. al. Endocr Pract. 2010 Mar-Apr;16(2):209-18.

Methods, cont’d The primary outcome was the mean percent of glucose readings per

patient between 60 and 180 mg/dL.). Results

Between April 5 and June 22, 2006, there were 179 eligible study subjects.

Mean percent of glucose readings per patient between 60 and 180 mg/dL was 75% in the intervention group and 71% in the usual care group (adjusted relative risk, 1.36; 95% CI, 1.03 to 1.80).

In comparison with usual care, the intervention group had a lower patient-day weighted mean glucose (148 mg/dL versus 158 mg/dL, P = .04), less use of sliding-scale insulin by itself (25% versus 58%, P = .01), and no significant difference in the rate of severe hypoglycemia (glucose <40 mg/dL; 0.5% versus 0.3% of patient-days, P = .58).

Page 26: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Schnipper JL et. al. Endocr Pract. 2010 Mar-Apr;16(2):209-18.

Conclusions Use of an order set built into a hospital's CPOE system led to

improvements in glycemic control and insulin ordering without causing a significant increase in hypoglycemia.

Importance Glycemic control is a big problem in hospitalized patients. Extends literature showing that structured CPOE via order sets is a

useful technical approach to guiding care where more than one element is needed for the intended outcome.

Page 27: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Riggio JM et. al. Acad Med. 2009 Dec;84(12):1719-26. [Thomas

Jefferson University, Philadelphia] Title

Effectiveness of a clinical-decision-support system in improving compliance with cardiac-care quality measures and supporting resident training.

Aim To improve compliance with quality measures for patients with

myocardial infarction and heart failure, at hospital discharge. Methods

A clinical-decision-support system (CDSS) using an electronic checklist was developed.

The CDSS prompts clinicians at every training level to consistently create comprehensive discharge instructions addressing quality measures.

Compliance with discharge medication prescribing guidelines was measured during 15-month preintervention and postintervention periods.

Page 28: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Riggio JM et. al. Acad Med. 2009 Dec;84(12):1719-26.

Results Delivery of discharge instructions showed significant improvement

from the preintervention period to the postintervention period (37.2% to 93.0%; P < .001).

Compliance with prescription of ACEI or ARB also improved significantly for HF (80.7% to 96.4%; P < .001) and AMI (88.1% to 100%; P = .014) patients.

Compliance with the remaining measures was higher before intervention, and, thus, the modest improvement in the postintervention period was not statistically significant (AMI patients: aspirin, 97.5% to 98.8%; P = .43; and beta-blocker, 97.9% to 98.7%; P = .78; HF patients: LVSF, 99.3% to 99.1%; P = .78).

Page 29: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Riggio JM et. al. Acad Med. 2009 Dec;84(12):1719-26..

Conclusions Implementation of a CDSS with computerized electronic prompts

improved compliance with selected cardiac-care quality measures. The design of quality-improvement decision-support tools should

incorporate educational missions in their message and design. Importance

Although a concurrent randomized design is superior to a sequential design, significant improvements in outcomes of CDSS implementation can be found with either.

Overall compliance with best practice in the 95-100% range is refreshing in an otherwise often dismal literature that tends to focus on percent change because the baseline prevalence of best practice is low.

Page 30: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Ledwich LJ et. al. Arthritis Rheum. 2009 Nov 15;61(11):1505-10.

[Geisinger Medical Center, Danville, PA] Title

Improved influenza and pneumococcal vaccination in rheumatology patients taking immunosuppressants using an electronic health record best practice alert.

Aim To examine whether an electronic health record (EHR) best practice

alert (BPA), a clinical reminder to help guideline adherence, improved vaccination rates in rheumatology patients receiving immunosuppressants.

Methods A vaccination BPA was developed based on immunosuppressant

treatment, age, and prior vaccinations. At site 1, a hospital-based academic practice, physicians ordered

vaccinations. At site 2, a community-based practice, physicians signed orders placed by nurses.

Demographics, vaccination rates, and documentation (vaccination or no administration) were measured. .

Page 31: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Ledwich LJ et. al. Arthritis Rheum. 2009 Nov 15;61(11):1505-10.

Methods, cont’d Vaccination and documentation rates were compared for October 1

through December 31, 2006 (preBPA), and October 1 through December 31, 2007 (postBPA).

Determined odds ratio of improvement across the years between the sites.

Results PostBPA influenza vaccination rates significantly increased (47% to

65%; P < 0.001), with significant improvement at both sites. PostBPA pneumococcal vaccination rates likewise significantly

increased (19% to 41%; P < 0.001). PostBPA documentation rates for influenza and pneumococcal

vaccinations also increased significantly.

Page 32: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Ledwich LJ et. al. Arthritis Rheum. 2009 Nov 15;61(11):1505-10. .

Results, cont’d Site 2 (nurse-driven) had significantly higher preBPA vaccination rates

for influenza (69% versus 43%; P < 0.001) and pneumococcal (47% versus 15%; P < 0.001)..

Conclusions The use of a BPA significantly increased influenza and pneumococcal

vaccination and documentation rates in rheumatology patients taking immunosuppressants.

A nurse-driven process offered higher efficacy. An EHR programmed to alert providers is an effective tool for

improving quality of care for patients receiving immunosuppressants.. Importance

Extends CDSS literature showing better outcomes by sending CDSS alerts to persons other than physicians.

Page 33: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Hug BL et. al. J Gen Intern Med. 2010 Jan;25(1):31-8. Epub 2009 Nov

6.[Brigham & Women’s, Boston, MA] Title

Adverse drug event rates in six community hospitals and the potential impact of computerized physician order entry for prevention.

Aim To assess the incidence of adverse drug events (ADEs) in six

community hospitals. Methods

Multicenter, retrospective cohort study of six Massachusetts community hospitals with 100 to 300 beds.

From 109,641 adult patients hospitalized from January 2005 through August 2006, a random sample of 1,200 patients was drawn, 200 per site.

Measured ADEs and preventable ADEs. Presence of an ADE was evaluated using an adaptation of a trigger instrument developed by the Institute for Health Care Improvement.

Page 34: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Hug BL et. al. J Gen Intern Med. 2010 Jan;25(1):31-8.

Methods, cont’d Independent reviewers classified events by preventability, severity,

and potential for preventability by computerized physician order entry (CPOE)...

Results 180 ADEs occurred in 141 patients (rate, 15.0/100 admissions). Overall, 75% were preventable. ADEs were rated as serious in 49.4%

and life threatening in 11.7%. Patients with ADEs were older (mean age, 74.6 years, p < 0.001),

more often female (60.3%, p = 0.61), and more often Caucasian (96.5%, p < 0.001) than patients without ADEs.

Of the preventable ADEs, 81.5% were judged potentially preventable by CPOE.

Page 35: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Hug BL et. al. J Gen Intern Med. 2010 Jan;25(1):31-8. .

Conclusions The incidence of ADEs in these community hospital admissions was

high, and most ADEs were preventable, mostly through CPOE. Data suggest that CPOE may be beneficial in this setting.

Importance Findings regarding ADE’s and potential of CDSS from academic

centers extrapolate to community settings. Reinforces the value of progressive Meaningful Use criteria for EMRs

with respect to CDSS

Page 36: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Patients

Reference Fals-Stewart and Lam WK. Exp Clin Psychopharmacol. 2010

Feb;18(1):87-98.[University of Rochester, Rochester, NY] Title

Computer-assisted cognitive rehabilitation for the treatment of patients with substance use disorders: a randomized clinical trial.

Aim To examine the comparative efficacy of cognitive rehabilitation as an

intervention for substance misuse. Methods

Patients with substance use disorders entering long-term residential care (N = 160) randomly assigned to one of two conditions: (a) standard treatment plus computer-assisted cognitive rehabilitation (CACR), designed to improve cognitive performance in areas such as problem solving, attention, memory, and information processing speed; or (b) an equally intensive attention control condition consisting of standard treatment plus a computer-assisted typing tutorial (CATT).

Participants were assessed at baseline, during treatment, at treatment completion, and 3-, 6-, 9-, and 12-month follow-up.

Page 37: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Patients

Reference Fals-Stewart and Lam WK. Exp Clin Psychopharmacol. 2010

Feb;18(1):87-98. Results

Intent-to-treat analyses showed that, compared with those randomized to CATyping Tutorial, patients who received CA Cognitive Rehab were significantly more engaged in treatment (e.g., higher ratings of positive participation by treatment staff, higher ratings of therapeutic alliance), more committed to treatment (e.g., longer stays in residence) and reported better long-term outcomes (e.g., higher percentage of days abstinent after treatment).

There was a positive comparative effect of CA Cognitive Rehab on abstinence during the year after treatment that was mediated by treatment engagement and length of stay in residence.

Page 38: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support for Providers

Reference Fals-Stewart and Lam WK. Exp Clin Psychopharmacol. 2010

Feb;18(1):87-98. .

Importance Either computer assisted cognitive rehabilitation contributes to drug

rehab, or forcing patients to learn typing makes them think drugs aren’t so bad after all. ;-)

Page 39: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

CDSS Unintended Consequences

Reference Strom BL et al. Arch Intern Med. 2010 Sep 27;170(17):1578-83.

[University of Pennsylvania, Philadelphia PA] Title

Unintended effects of a computerized physician order entry nearly hard-stop alert to prevent a drug interaction: a randomized controlled trial..

Aim To evaluate the effectiveness of a nearly "hard stop" CPOE

prescribing alert intended to reduce concomitant orders for warfarin and trimethoprim-sulfamethoxazole.

Methods Randomized clinical trial conducted at 2 academic medical centers in

Philadelphia. 1981 clinicians were assigned to either an intervention group

receiving a nearly hard stop alert or a control group receiving the standard practice.

The study duration August 9, 2006, through February 13, 2007..

Page 40: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

CDSS Unintended Consequences

Reference Strom BL et al. Arch Intern Med. 2010 Sep 27;170(17):1578-83

Results Proportion of desired responses (ie, not reordering the alert-triggering

drug within 10 minutes of firing) was 57.2% (111 of 194 hard stop alerts) in the intervention group and 13.5% (20 of 148) in the control group (adjusted odds ratio, 0.12; 95% confidence interval, 0.045-0.33).

However, the study was terminated early because of 4 unintended consequences identified among patients in the intervention group: a delay of treatment with trimethoprim-sulfamethoxazole in 2 patients and a delay of treatment with warfarin in another 2 patients.

Conclusions An electronic hard stop alert as part of an inpatient CPOE system was

extremely effective in changing prescribing. However, the intervention precipitated clinically important treatment

delays in 4 patients who needed immediate drug therapy. Results illustrate the importance of formal evaluation and monitoring

for unintended consequences of programmatic interventions intended to improve prescribing habits.

Page 41: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

CDSS Unintended Consequences

Reference Persell SD et al. Ann Intern Med. 2010 Feb 16;152(4):225-31.

[Northwestern University, Chicago, IL] Title

Frequency of inappropriate medical exceptions to quality measures. Aim

To implement computerized decision support with mechanisms to document medical exceptions to quality measures and to perform peer review of exceptions and provide feedback when appropriate.

Methods Observational study of large internal medicine practice involving

patients eligible for 1 or more quality measures. A peer-review panel judged medical exceptions to 16 chronic disease

and prevention quality measures as appropriate, inappropriate, or of uncertain appropriateness.

Medical records were reviewed after feedback was given to determine whether care changed.

Page 42: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

CDSS Unintended Consequences

Reference Persell SD et al. Ann Intern Med. 2010 Feb 16;152(4):225-31.

Results

Physicians recorded 650 standardized medical exceptions during 7 months. The reporting tool was used without any medical reason 36 times (5.5%).

Of the remaining 614 exceptions, 93.6% were medically appropriate, 3.1% were inappropriate, and 3.3% were of uncertain appropriateness.

Frequencies of inappropriate exceptions were 7 (6.9%) for coronary heart disease, 0 (0%) for heart failure, 10 (10.8%) for diabetes, and 2 (0.6%) for preventive services.

After physicians received direct feedback about inappropriate exceptions, 8 of 19 (42%) changed management.

The peer-review process took less than 5 minutes per case, but for each change in clinical care, 65 reviews were required..

Page 43: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

CDSS Unintended Consequences

Reference Persell SD et al. Ann Intern Med. 2010 Feb 16;152(4):225-31.

Conclusions

Physician-recorded medical exceptions were correct most of the time. Peer review of medical exceptions can identify myths and

misconceptions, but the process needs to be more efficient to be sustainable.

Page 44: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

7 New CDSS RCTs showing no difference for intervention vs. control

1. Xu C et al. A randomized controlled trial of an interactive voice response telephone system and specialist nurse support for childhood asthma management. J Asthma. 2010 Sep;47(7):768-73. [University of Queensland, Australia]

2. Williams LK et al. A cluster-randomized trial to provide clinicians inhaled corticosteroid adherence information for their patients with asthma. J Allergy Clin Immunol. 2010 Aug;126(2):225-31, 231.e1-4. Epub 2010 May 31. [Henry Ford Health System, Detroit, MI]

3. Strom BL et al. Randomized clinical trial of a customized electronic alert requiring an affirmative response compared to a control group receiving a commercial passive CPOE alert: NSAID--warfarin co-prescribing as a test case. J Am Med Inform Assoc. 2010 Jul-Aug;17(4):411-5. [University of Pennsylvania, Philadelphia]

4. Walsh MN et al. Electronic health records and quality of care for heart failure. Am Heart J. 2010 Apr;159(4):635-642. [Care Group, Indianapolis, IN]

Page 45: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

7 New CDSS RCTs showing no difference for intervention vs. control, cont’d

5. Singh H et al. Notification of abnormal lab test results in an electronic medical record: do any safety concerns remain? Am J Med. 2010 Mar;123(3):238-44. [Houston VA and Baylor College of Medicine, Houston, TX]

6. Tamblyn R et al. Increasing the detection and response to adherence problems with cardiovascular medication in primary care through computerized drug management systems: a randomized controlled trial. Med Decis Making. 2010 Mar-Apr;30(2):176-88. Epub 2009 Aug 12. [McGill University, Montreal, Quebec]

7. Maclean CD. The Vermont diabetes information system: a cluster randomized trial of a population based decision support system. J Gen Intern Med. 2009 Dec;24(12):1303-10. Epub 2009 Oct 28. [University of Vermont, Burlington, VT]

Page 46: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical Decision Support

Questions and Comments

Page 47: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Telemedicine

13 new RCTs published

November 2009 – October 2010•2 diabetes

•4 psychiatric conditions

•1 each: smoking cessation, acne, hypertension, infertility, congestive heart failure, malaria

Page 48: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Telemedicine - diabetes Reference

Stone RA et. al. Diabetes Care. 2010 Mar;33(3):478-84. Epub 2009 Dec 15. [Dept of Biostatistics, University of Pittsburgh]

Title Active care management supported by home telemonitoring in veterans with type 2

diabetes: the DiaTel randomized controlled trial. Aim

To compare short-term efficacy of home telemonitoring coupled with active medication management by a nurse practitioner with a monthly care coordination telephone call on glycemic control in veterans with type 2 diabetes and entry A1C > or =7.5%..

Methods Veterans in VA Pittsburgh Healthcare System, June 2004 to December 2005, who

were taking oral hypoglycemic agents and/or insulin for > or =1 year, and who had A1C > or =7.5% at enrollment

Randomly assigned to either active care management with home telemonitoring (ACM+HT group, n = 73) or a monthly care coordination telephone call (CC group, n = 77).

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Telemedicine - diabetes

Reference Stone RA et. al. Diabetes Care. 2010 Mar;33(3):478-84.

Methods, cont’d

Both groups received monthly calls for diabetes education and self-management review. ACM+HT group participants transmitted blood glucose, blood pressure, and weight to a nurse practitioner using the Viterion 100 TeleHealth Monitor

Nurse practitioner adjusted medications for glucose, blood pressure, and lipid control based on established American Diabetes Association targets.

Measures were obtained at baseline, 3-month, and 6-month visits.

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Telemedicine - diabetes

Reference Stone RA et. al. Diabetes Care. 2010 Mar;33(3):478-84.

Page 51: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Telemedicine - diabetes Reference

Stone RA et. al. Diabetes Care. 2010 Mar;33(3):478-84. Results

Baseline characteristics were similar in both groups, with mean A1C of 9.4% (CC group) and 9.6% (ACM+HT group).

Compared with the CC group, the ACM+HT group demonstrated significantly larger decreases in A1C at 3 months (1.7 vs. 0.7%) and 6 months (1.7 vs. 0.8%; P < 0.001 for each), with most improvement occurring by 3 months.

Conclusions Compared with the CC group, the ACM+HT group demonstrated significantly

greater reductions in A1C by 3 and 6 months. However, both interventions improved glycemic control in primary care patients

with previously inadequate control. Importance

Extends literature showing home health measurement devices work for chronic conditions

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Telemedicine – psychiatric conditions Reference

Pyne JM et. alArch Gen Psychiatry. 2010 Aug;67(8):812-2. [Central Arkansas VA, North Little Rock, AR]

Title Cost-effectiveness analysis of a rural telemedicine collaborative care

intervention for depression. Aim

To examine the cost-effectiveness of a rural telemedicine-based collaborative care depression intervention.

Methods Randomized controlled trial of intervention vs usual care. Seven small (serving 1000 to 5000 veterans) Veterans Health Administration

community-based outpatient clinics serving rural catchment areas in 3 mid-South states.

Each site had interactive televideo dedicated to mental health but no psychiatrist or psychologist on site.

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Telemedicine – psychiatric conditions

Reference Pyne JM et. alArch Gen Psychiatry. 2010 Aug;67(8):812-2. [Central

Arkansas VA, North Little Rock, AR]

Methods, cont’d 395 patients enrolled from April 2003 to September 2004. 360 (91.1%) completed a 6-month follow-up and 335 (84.8%)

completed a 12-month follow-up. Intervention was a stepped-care model for depression treatment was

used by an off-site depression care team to make treatment recommendations via electronic medical record.

The team included a nurse depression care manager, clinical pharmacist, and psychiatrist. Depression care manager communicated with patients via telephone and was supported by computerized decision support software.

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Telemedicine – psychiatric conditions Reference

Pyne JM et. alArch Gen Psychiatry. 2010 Aug;67(8):812-2. Methods, cont’d

Base case cost analysis included outpatient, pharmacy, and intervention expenditures.

Effectiveness outcomes were depression-free days and quality-adjusted life years (QALYs) calculated using the 12-Item Short Form Health Survey standard gamble conversion formula.

Results Incremental depression-free days outcome was not significant (P

= .10); therefore, further cost-effectiveness analyses were not done. The incremental QALY outcome was significant (P = .04) and the

mean base case incremental cost-effectiveness ratio was $85,634/QALY.

Results adding inpatient costs were $111,999/QALY to $132,175/QALY..

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Telemedicine – psychiatric conditions Reference

Pyne JM et. al Arch Gen Psychiatry. 2010 Aug;67(8):812-2. Conclusions

In rural settings, a telemedicine-based collaborative care intervention for depression is effective and expensive.

The mean base case result was $85,634/QALY, which is greater than cost per QALY ratios reported for other, mostly urban, depression collaborative care interventions..

Importance One of few (and perhaps the first VA) telemedicine studies

among many involving telepsychiatry that focuses on both assessment of efficacy and cost-effectiveness.

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Telemedicine – psychiatric conditions

Two other studies from VA:

Kroenke K et al. Effect of telecare management on pain and depression in patients with cancer: a randomized trial. JAMA. 2010 Jul 14;304(2):163-71. [Indianapolis]

Morland LA et al. Telemedicine for anger management therapy in a rural population of combat veterans with posttraumatic stress disorder: a randomized noninferiority trial. J Clin Psychiatry. 2010 Jul;71(7):855-63. Epub 2010 Jan 26. [Honolulu]

Both showed effectiveness without associated cost analysis

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Telemedicine – psychiatric conditions Reference

Wiegand B et. al. Curr Med Res Opin. 2010 Apr;26(4):991-1002. [Johnson & Johson, Inc. Ft. Washington PA]

Title Efficacy of a comprehensive program for reducing stress in women: a prospective,

randomized trial. Aim

To evaluate the efficacy of a comprehensive stress management program in reducing perceived stress among women who reported moderate-to-high stress levels.

Methods 562 highly motivated females, aged 25-45, with moderate to high stress levels,

were enrolled in a 14-week study. Participants randomized into one of three groups: Group 1 included Internet-based

coaching focusing on behavior modification, daily use of proprietary olfactive-based personal care products, and periodic feedback reports; Group 2 consisted of only online coaching; and Group 3 had no active stress management program.

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Telemedicine – psychiatric conditions Reference

Wiegand B et. al. Curr Med Res Opin. 2010 Apr;26(4):991-1002.

Methods, cont’d Participants in the three groups filled out validated psychometric assessments at

baseline and throughout the study period to assess changes in subject-perceived stress, stress-related comorbidities, and sleep quality and to evaluate overall program efficacy.

Results At the end of the 14-week study period, subjects in Group 1 had statistically

significant improvement in the PSS score vs. Group 3 (p < 0.01). There were statistically significant improvements in other efficacy outcomes such

as POMS total mood disturbance, TICS work overload and social responsibility subscales, STAI and in the number of night awakenings, assessed by the SMS questionnaire (p < 0.05).

Self-reported program efficacy was also significantly higher for Group 1 (p < 0.001).

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Telemedicine – psychiatric conditions Reference

Wiegand B et. al. Curr Med Res Opin. 2010 Apr;26(4):991-1002.

Conclusions

Despite study limitations, including reduction of stress in Group 3, study demonstrated that the comprehensive stress management program [with ofactive-base personal care products] is effective in reducing stress among women with moderate to high stress levels.

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6 New Telemedicine RCTs showing no difference for intervention vs. control

1. Dalta SK, et al. Economic analysis of a tailored behavioral intervention to improve blood pressure control for primary care patients. Am Heart J. 2010 Aug;160(2):257-63 [VA Durham, NC]

2. Palmas W et al. Medicare payments, healthcare service use, and telemedicine implementation costs in a randomized trial comparing telemedicine case management with usual care in medically underserved participants with diabetes mellitus (IDEATel). J Am Med Inform Assoc. 2010 Mar-Apr;17(2):196-202. [Columbia Univ. NYC]

3. Watson AJ et al. A randomized trial to evaluate the efficacy of online follow-up visits in the management of acne. Arch Dermatol. 2010 Apr;146(4):406-11. [Center for Connected Health, Boston, MA]

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6 New Telemedicine RCTs showing no difference for intervention vs. control

4. Haemmerli K et al. Internet-based support for infertile patients: a randomized controlled study. J Behav Med. 2010 Apr;33(2):135-46. Epub 2009 Dec 29. [University of Bern, Switzerland]

5. Copeland LA et al. An intervention for VA patients with congestive heart failure. Am J Manag Care. 2010 Mar;16(3):158-65.[VA San Antonio, TX]

6. Ollivier L et al. Use of short message service (SMS) to improve malaria chemoprophylaxis compliance after returning from a malaria endemic area. Malar J. 2009 Oct 23;8:236. [Tropical Medicine Service, Marseille, France]

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Telemedicine

Questions and Comments

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Practice of Informatics

Page 64: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Practice of Informatics

Reference Poon EG et. al.. N Engl J Med. 2010 May 6;362(18):1698-707.

[Brigham and Women’’s, Boston MA] Title

Effect of bar-code technology on the safety of medication administration.

Aim To assess impact of bar-code verification technology within an

electronic medication-administration system (bar-code eMAR). Methods

Before-and-after, quasi-experimental study in an academic medical center that was implementing the bar-code eMAR.

Assessed rates of errors in order transcription and medication administration on units before and after implementation of the bar-code eMAR. Errors that involved early or late administration of medications were classified as timing errors and all others as nontiming errors.

Two clinicians reviewed the errors to determine their potential to harm patients and classified those that could be harmful as potential adverse drug events..

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Practice of Informatics

Reference Poon EG et. al.. N Engl J Med. 2010 May 6;362(18):1698-707..

Results 14,041 medication administrations and 3082 order transcriptions

reviewed. Found 776 nontiming errors in medication administration on units that

did not use the bar-code eMAR (an 11.5% error rate) versus 495 such errors on units that did use it (a 6.8% error rate)--a 41.4% relative reduction in errors (P<0.001).

The rate of potential adverse drug events (other than those associated with timing errors) fell from 3.1% without the use of the bar-code eMAR to 1.6% with its use, representing a 50.8% relative reduction (P<0.001).

The rate of timing errors in medication administration fell by 27.3% (P<0.001), but the rate of potential adverse drug events associated with timing errors did not change significantly.

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Practice of Informatics

Reference Poon EG et. al.. N Engl J Med. 2010 May 6;362(18):1698-707..

Results Transcription errors occurred at a rate of 6.1% on units that did not

use the bar-code eMAR but were completely eliminated on units that did use it.

Conclusions Use of the bar-code eMAR substantially reduces rate of errors in

order transcription and in medication administration as well as potential adverse drug events, although it does not eliminate such errors.

Data show that the bar-code eMAR is an important intervention to improve medication safety.

Importance Self evident…

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Practice of Informatics

Reference Anderson JG et. al.. Health Care Manag Sci. 2010 Mar;13(1):74-83..

[Purdue University, West Lafayette, IN] Title

Reporting trends in a regional medication error data-sharing system.. Aim

To examine trends in information reported by hospitals participating in a regional reporting system for medication errors.

Methods A coalition of hospitals in southwestern Pennsylvania, under the

auspices of the Pittsburgh Regional Healthcare Initiative (PRHI), implemented a voluntary system for quarterly sharing of information about medication errors.

Over a 12-month period, 25 hospitals shared information about 17,000 medication errors.

Using latent growth curve analysis, authors examined longitudinal trends in the quarterly number of errors and associated corrective actions reported by each hospital.

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Practice of Informatics

Reference Anderson JG et. al.. Health Care Manag Sci. 2010 Mar;13(1):74-83.

Results Controlling for size, teaching status, and JCAHO accreditation score,

for the hospitals as a group, error reporting increased at a statistically significant rate over the four quarters.

Error reporting increased at similar rates across hospitals over subsequent quarters.

In contrast, the reporting of corrective actions remained unchanged. However, the baseline levels of corrective actions reporting were significantly different across hospitals.

Conclusions Although data sharing systems promote error reporting, it is unclear

whether they encourage corrective actions. If data sharing is intended to promote root-cause-analysis and

process improvement, then the design of the reporting system should emphasize data about these processes as well as errors.

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Practice of Informatics

Questions and Comments

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New Literature Highlights: Bioinformatics and Computational Biology

Human Health and DiseaseThe practice of bioinformatics

Page 71: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Bioinformatics: Human Health & Disease

Reference . www.genome.gov/GWAStudies

Title NHGRI Genome-wide Association Studies Catalog.

Summary features

904 published genome-wide association studies showing genome-wide significance for 165 traits.

Page 72: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

GWAS methods

Measure 500,000 to 2 million DNA features Most are Single Nucleotide Polymorphisms (SNPs) Increasingly includes copy number variation (gene

dose) In principle, look for DNA changes that are

statistically associated with the condition of interest, relative to a suitable comparison group. Best case: autosomal dominant Mendelian trait More common: complex trait with any individual

SNP conferring small elevated risk

Page 73: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Published Genome-Wide Associations through 6/2010, 904 published GWA at p<5x10-8 for 165 traits

NHGRI GWA Catalogwww.genome.gov/GWAStudies

Page 74: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Published Genome-Wide Associations through 6/2010, 904 published GWA at p<5x10-8 for 165 traits

Page 75: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Clinical relevance of genomic associations

The product of minor allele frequency (MAF) and odds ratio (elevated or decreased risk relative to comparison population) of condition of interest when the minor allele is present.

MAF x OR High MAF or high OR or both can make a

genetic finding clinically relevant

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Example

CYP2C19 gene converts clopidigrel (Plavix) to active metabolite. 1/3 of persons of European descent and 40% of

persons of African or Asian descent have loss of function or gain of function variant alleles

Loss of function allele carriers have threefold increased risk of stent thrombosis (2.9% vs. 0.9%)

Gain of function allele carriers have twofold increase risk of bleeding

MAF (.3-.4) x OR (2-3) x observed risk in comparison group with major allele

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Bioinformatics: Human Health & Disease

Reference Plata G et al. Mol Syst Biol. 2010 Sep 7;6:408.[Columbia

University, NYC Title

Reconstruction and flux-balance analysis of the Plasmodium falciparum metabolic network.

Aim To construct a genome-scale metabolic reconstruction of the

malaria parasite. Methods

Create an in-silico model of all gene products and their interactions for P. falciparum

Enzyme-gene associations were established for 366 genes and 75% of all enzymatic reactions.

Page 78: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Bioinformatics: Human Health & Disease

Reference Plata G et al. Mol Syst Biol. 2010 Sep 7;6:408.[Columbia

University, NYC Results

Create an in-silico model of all gene products and their interactions for P. falciparum

Enzyme-gene associations were established for 366 genes and 75% of all enzymatic reactions.

The model was able to reproduce phenotypes of experimental gene knockout and drug inhibition assays with up to 90% accuracy.

Identified 40 enzymatic drug targets (i.e. in silico essential genes), with no or very low sequence identity to human proteins.

To demonstrate that the model can be used to make clinically relevant predictions, authors experimentally tested one of the identified drug targets, nicotinate mononucleotide adenylyltransferase, using a recently discovered small-molecule inhibitor.

Page 79: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Bioinformatics: Human Health & Disease

Reference Plata G et al. Mol Syst Biol. 2010 Sep 7;6:408.[Columbia

University, NYC

Importance

Clinically relevant example of the emerging field of systems biology, starting with genome and predicting majority of the molecular metabolism of a parasite cell.

Authors found a potential cure for drug-resistant malaria, identifying a drug approved for other purposes.

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Bioinformatics: Model Systems

Reference Barash Y et al. Mol Syst Biol. 2010 Sep 7;6:408.[University of

Toronto, Canada] Title

Deciphering the splicing code. Aim

To understand how alternative splicing of gene products explains the disparity between numbers of genes and numbers of proteins produced by those genes.

Methods Developed algorithm capable of predicting splice variants by tissue

type. Results

Detected a class of exons that promote genes during embryogeneis and by alternative splicing silence same genes in adulthood.

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Page 82: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

The Practice of Bioinformatics

Reference Eriksson N et al. PLoS Genet. 2010 Jun 24;6(6):e1000993..

[23andMe, Mountain View, California] Title

Web-based, participant-driven studies yield novel genetic associations for common traits.

Aim Describe new genetic findings discovered by conducting voluntary

surveys of persons who purchased their own genotypes. Methods

Examination of 22 common traits by approximately 10,000 participants.

Results Replicated published findings for hair color, eye color, freckling. Discovered novel gene associations for hair morphology, ability to

smell asparagus metabolites in urine, and photic sneeze reflex.

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The Practice of Bioinformatics

Reference Eriksson N et al. PLoS Genet. 2010 Jun 24;6(6):e1000993..

[23andMe, Mountain View, California]

Importance

Recreational genomics is capable of scientific discovery.

Page 84: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

The Practice of Bioinformatics

Reference Denny JC et al. Bioinformatics. 2010 May 1;26(9):1205-10. Epub

2010 Mar 24. [Vanderbilt University, Nashville, TN] Title

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Aim Create a novel discovery method using genome scans combined

with longitudinal EMR data. Methods

“Turn GWAS on its head” using EMR-derived phenotype data to perform correlations between genetic variation and clinically important conditions.

Developed a code translation table to automatically define 776 different disease populations and their controls using prevalent ICD9 codes derived from EMR data.

Beginning with SNPs known to be associated with a single disease, look for other expected and unexpected disease associations.

Page 85: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

The Practice of Bioinformatics

Reference Denny JC et al. Bioinformatics. 2010 May 1;26(9):1205-10. Epub

2010 Mar 24. [Vanderbilt University, Nashville, TN] Results

Four of seven known SNP-disease associations using the PheWAS algorithm were replicated with P-values between 2.8 x 10(-6) and 0.011.

The PheWAS algorithm also identified 19 previously unknown statistical associations between these SNPs and diseases at P < 0.01.

Importance Takes advantage of unique strength of EMR systems (natural co-

occurrence of diseases) to correlate genomic scanning (all possible observable genotypes) with all possible diseases as represented in EMR systems.

Shows EMRs can be used both for validation of research findings in real world settings, and for discovery of new genetic associations.

Page 86: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Computational Biology and Bioinformatics

Questions and Comments

Page 87: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Top Five List of Notable Events

in the Past 12 months

Page 88: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

5. October 27, 2010. First phase of 1000 genomes project data released. Of 180 complete genomes sequence, each has 50-100 variants associated with disease. “No human carries a perfect set of genes.”

Page 89: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

Page 90: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

5. October 27, 2010. First phase of 1000 genomes project released. Of 180 complete genomes sequence, each has 50-100 variants associated with disease. “No human carries a perfect set of genes.”

4. AMIA’s profile and impact on national policy continues to grow: ONC, Institute of Medicine, NCVHS

Page 91: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and
Page 92: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

5. October 27, 2010. First phase of 1000 genomes project released. Of 180 complete genomes sequence, each has 50-100 variants associated with disease. “No human carries a perfect set of genes.”

4. AMIA’s profile and impact on national policy continues to grow: ONC, Institute of Medicine, NCVHS

3. ONC funding for informatics R&D flows through SHARPs, BEACONs, state HIE’s, and for Advancing Clinical Decision Support

Page 93: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and
Page 94: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

5. October 27, 2010. First phase of 1000 genomes project released. Of 180 complete genomes sequence, each has 50-100 variants associated with disease. “No human carries a perfect set of genes.”

4. AMIA’s profile and impact on national policy continues to grow: ONC, Institute of Medicine, NCVHS

3. ONC funding for informatics R&D flows through SHARPs, BEACONs, state HIE’s, and for Advancing Clinical Decision Support

2. July 28, 2010. Final Rule for Standards, Implementation Specifications, and Certification Criteria for Electronic Health Record Technology published

Page 95: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and
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And the #1 top event of 2010 is…

Page 97: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

“Top Five” Events

5. October 27, 2010. First phase of 1000 genomes project released. Of 180 complete genomes sequence, each has 50-100 variants associated with disease. “No human carries a perfect set of genes.”

4. AMIA’s profile and impact on national policy continues to grow: ONC, Institute of Medicine, NCVHS

3. ONC funding for informatics R&D flows through SHARPs, BEACONs, state HIE’s, and for Advancing Clinical Decision Support

2. July 28, 2010. Final Rule for Standards, Implementation Specifications, and Certification Criteria for Electronic Health Record Technology published

1. July 13, 2010. Meaningful Use Final Rule published

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2010: Informatics’ Big Chance Continues

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Page 102: Biomedical Informatics 2010 Year in Review Notable publications and events in Informatics since the 2009 AMIA Symposium Daniel R. Masys, MD Professor and

Content for this session is at:

http://dbmichair.mc.vanderbilt.edu/amia2010/

including citation lists and linksand this PowerPoint