J. Pers. Med.2014, 4(1), 65-78; doi:10.3390/jpm4010065 - published online 7 March 2014 Show/Hide Abstract
Abstract: Knowledge of a patient’s cardiac age, or “heart age”, could prove useful to both patients and physicians for better encouraging lifestyle changes potentially beneficial for cardiovascular health. This may be particularly true for patients who exhibit symptoms but who test negative for cardiac pathology. We developed a statistical model, using a Bayesian approach, that predicts an individual’s heart age based on his/her electrocardiogram (ECG). The model is tailored to healthy individuals, with no known risk factors, who are at least 20 years old and for whom a resting ~5 min 12-lead ECG has been obtained. We evaluated the model using a database of ECGs from 776 such individuals. Secondarily, we also applied the model to other groups of individuals who had received 5-min ECGs, including 221 with risk factors for cardiac disease, 441 with overt cardiac disease diagnosed by clinical imaging tests, and a smaller group of highly endurance-trained athletes. Model-related heart age predictions in healthy non-athletes tended to center around body age, whereas about three-fourths of the subjects with risk factors and nearly all patients with proven heart diseases had higher predicted heart ages than true body ages. The model also predicted somewhat higher heart ages than body ages in a majority of highly endurance-trained athletes, potentially consistent with possible fibrotic or other anomalies recently noted in such individuals.
J. Pers. Med.2014, 4(1), 52-64; doi:10.3390/jpm4010052 - published online 7 March 2014 Show/Hide Abstract
Abstract: Registries evaluating un-randomized patients have provided valuable information with respect to a therapy’s utility, treatment practices, and evolution over time. While immunotherapy for cancer has been around for more than three decades, data collection in the form of a registry has not been undertaken. The authors believe that establishing a registry to study HD IL-2 immunotherapy, which has been the only systemic therapy producing long term unmaintained remissions for advanced kidney cancer and melanoma for over 20 years, will be an important resource in understanding the impact of immunotherapy with HD IL-2 in a rapidly changing therapeutic environment. Optimizing administration and improving selection of appropriate patients likely to benefit from HD IL-2 immunotherapy are two of many benefits to be derived from this endeavor.
J. Pers. Med.2014, 4(1), 35-49; doi:10.3390/jpm4010035 - published online 27 February 2014 Show/Hide Abstract
Abstract: This study assessed physician attitudes toward adopting genome-guided prescribing through clinical decision support (CDS), prior to enlisting in the Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics pilot pharmacogenomics project (CLIPMERGE PGx). We developed a survey instrument that includes the Evidence Based Practice Attitude Scale, adapted to measure attitudes toward adopting genome-informed interventions (EBPAS-GII). The survey also includes items to measure physicians’ characteristics (awareness, experience, and perceived usefulness), attitudes about personal genome testing (PGT) services, and comfort using technology. We surveyed 101 General Internal Medicine physicians from the Icahn School of Medicine at Mount Sinai (ISMMS). The majority were residency program trainees (~88%). Prior to enlisting into CLIPMERGE PGx, most physicians were aware of and had used decision support aids. Few physicians, however, were aware of and had used genome-guided prescribing. The majority of physicians viewed decision support aids and genotype data as being useful for making prescribing decisions. Most physicians had not heard of, but were willing to use, PGT services and felt comfortable interpreting PGT results. Most physicians were comfortable with technology. Physicians who perceived genotype data to be useful in making prescribing decisions, had more positive attitudes toward adopting genome-guided prescribing through CDS. Our findings suggest that internal medicine physicians have a deficit in their familiarity and comfort interpreting and using genomic information. This has reinforced the importance of gathering feedback and guidance from our enrolled physicians when designing genome-guided CDS and the importance of prioritizing genomic medicine education at our institutions.
J. Pers. Med.2014, 4(1), 20-34; doi:10.3390/jpm4010020 - published online 18 February 2014 Show/Hide Abstract
Abstract: This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1) clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge); (2) patient-related (e.g., patients’ interests and personal experience with cancer); and (3) organizational-related (e.g., access to services, guidelines and referral pathway). Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians.
J. Pers. Med.2014, 4(1), 1-19; doi:10.3390/jpm4010001 - published online 8 January 2014 Show/Hide Abstract
Abstract: We describe the development and implementation of a randomized controlled trial to investigate the impact of genomic counseling on a cohort of patients with heart failure (HF) or hypertension (HTN), managed at a large academic medical center, the Ohio State University Wexner Medical Center (OSUWMC). Our study is built upon the existing Coriell Personalized Medicine Collaborative (CPMC®). OSUWMC patient participants with chronic disease (CD) receive eight actionable complex disease and one pharmacogenomic test report through the CPMC® web portal. Participants are randomized to either the in-person post-test genomic counseling—active arm, versus web-based only return of results—control arm. Study-specific surveys measure: (1) change in risk perception; (2) knowledge retention; (3) perceived personal control; (4) health behavior change; and, for the active arm (5), overall satisfaction with genomic counseling. This ongoing partnership has spurred creation of both infrastructure and procedures necessary for the implementation of genomics and genomic counseling in clinical care and clinical research. This included creation of a comprehensive informed consent document and processes for prospective return of actionable results for multiple complex diseases and pharmacogenomics (PGx) through a web portal, and integration of genomic data files and clinical decision support into an EPIC-based electronic medical record. We present this partnership, the infrastructure, genomic counseling approach, and the challenges that arose in the design and conduct of this ongoing trial to inform subsequent collaborative efforts and best genomic counseling practices.