An epidemiological perspective of personalized medicine: the Estonian experience

The Estonian Biobank and several other biobanks established over a decade ago are now starting to yield valuable longitudinal follow‐up data for large numbers of individuals. These samples have been used in hundreds of different genome‐wide association studies, resulting in the identification of reliable disease‐associated variants. The focus of genomic research has started to shift from identifying genetic and nongenetic risk factors associated with common complex diseases to understanding the underlying mechanisms of the diseases and suggesting novel targets for therapy. However, translation of findings from genomic research into medical practice is still lagging, mainly due to insufficient evidence of clinical validity and utility. In this review, we examine the different elements required for the implementation of personalized medicine based on genomic information. First, biobanks and genome centres are required and have been established for the high‐throughput genomic screening of large numbers of samples. Secondly, the combination of susceptibility alleles into polygenic risk scores has improved risk prediction of cardiovascular disease, breast cancer and several other diseases. Finally, national health information systems are being developed internationally, to combine data from electronic medical records from different sources, and also to gradually incorporate genomic information. We focus on the experience in Estonia, one of several countries with national goals towards more personalized health care based on genomic information, where the unique combination of elements required to accomplish this goal are already in place.     

A Web-Based Psychoeducational Program for Informal Caregivers of Patients With Alzheimer’s Disease: A Pilot Randomized Controlled Trial

Background

Although several face-to-face programs are dedicated to informal caregivers of persons with dementia, they are not always accessible to overburdened or isolated caregivers. Based on a face-to-face intervention program, we adapted and designed a Web-based fully automated psychoeducational program (called Diapason) inspired by a cognitive approach.

Objective

This study aimed to evaluate through a pilot unblinded randomized controlled trial the efficacy and acceptability of a Web-based psychoeducational program for informal caregivers of persons with Alzheimer’s disease (PWAD) based on a mixed methods research design.

Methods

We recruited and randomized offline 49 informal caregivers of a PWAD in a day care center in Paris, France. They either received the Web-based intervention and usual care for 3 months (experimental group, n=25) or only usual care (control group, n=24). Caregivers’ perceived stress (PSS-14, primary outcome), self-efficacy, burden, perceived health status, and depression (secondary outcomes) were measured during 3 face-to-face on-site visits: at baseline, at the end of the program (month 3), and after follow-up (month 6). Additionally, semistructured interviews were conducted with experimental group caregivers at month 6 and examined with thematic analysis.

Results

Intention-to-treat analysis did not show significant differences in self-perceived stress between the experimental and control groups (P=.98). The experimental group significantly improved their knowledge of the illness (d=.79, P=.008) from baseline to month 3. Of the 25 participants allocated to the experimental group, 17 (71%) finished the protocol and entirely viewed at least 10 of 12 online sessions. On average, participants used the website 19.72 times (SD 12.88) and were connected for 262.20 minutes (SD 270.74). The results of the satisfaction questionnaire showed that most participants considered the program to be useful (95%, 19/20), clear (100%, 20/20), and comprehensive (85%, 17/20). Significant correlations were found between relationship and caregivers’ program opinion (P=.01). Thus, positive opinions were provided by husbands and sons (3/3), whereas qualified opinions were primarily reported by daughters (8/11). Female spouses expressed negative (2/3) or neutral opinions (1/3). Caregivers expected more dynamic content and further interaction with staff and peers.

Conclusions

In this study, quantitative results were inconclusive owing to small sample size. Qualitative results indicated/showed little acceptance of the program and high expectations from caregivers. Caregivers did not rule out their interest in this kind of intervention provided that it met their needs. More dynamic, personalized, and social interventions are desirable. Our recruitment issues pointed out the necessity of in-depth studies about caregivers’ help-seeking behaviors and readiness factors.

Trial Registration

Clinicaltrials.gov {"type":"clinical-trial","attrs":{"text":"NCT01430286","term_id":"NCT01430286"}}NCT01430286; http://clinicaltrials.gov/ct2/show/{"type":"clinical-trial","attrs":{"text":"NCT01430286","term_id":"NCT01430286"}}NCT01430286 (Archived by WebCite at http://www.webcitation/6KxHaRspL).     

The Web-Based Osteoarthritis Management Resource My Joint Pain Improves Quality of Care: A Quasi-Experimental Study

BackgroundDespite the availability of evidence-based guidelines for conservative treatment of osteoarthritis (OA), management is often confined to the use of analgesics and waiting for eventual total joint replacement. This suggests a gap in knowledge for persons with OA regarding the many different treatments available to them.ObjectiveOur objective was to evaluate outcomes after usage of a Web-based resource called My Joint Pain that contains tailored, evidence-based information and tools aimed to improve self-management of OA on self-management and change in knowledge.MethodsA quasi-experimental design was used to evaluate the My Joint Pain website intervention over a 12-month period. The intervention provided participants with general and user-specific information, monthly assessments with validated instruments, and progress-tracking tools. A nationwide convenience sample of 195 participants with self-assessed hip and/or knee OA completed both baseline and 12-month questionnaires (users: n=104; nonusers: n=91). The primary outcome measure was the Health Evaluation Impact Questionnaire (heiQ) to evaluate 8 different domains (health-directed activity, positive and active engagement in life, emotional distress, self-monitoring and insight, constructive attitudes and approaches, skill and technique acquisition, social integration and support, health service navigation) and the secondary outcome measure was the 17-item Osteoarthritis Quality Indicator (OAQI) questionnaire to evaluate the change in appropriateness of care received by participants. Independent t tests were used to compare changes between groups for the heiQ and chi-square tests to identify changes within and between groups from baseline to 12 months for each OAQI item.ResultsBaseline demographics between groups were similar for gender (152/195, 77.9% female), age (mean 60, SD 9 years) and body mass index (mean 31.1, SD 6.8 kg/m²). With the exception of health service navigation, mean effect sizes from all other heiQ domains showed a positive trend for My Joint Pain users compared to the nonusers, although the differences between groups did not reach statistical significance. Within-group changes also showed improvements among the users of the My Joint Pain website for self-management (absolute change score=15%, P=.03), lifestyle (absolute change score=16%, P=.02), and physical activity (absolute change score=11%, P=.04), with no significant improvements for the nonusers. Following 12 months of exposure to the website, there were significant improvements for users compared to nonusers in self-management (absolute change score 15% vs 2%, P=.001) and weight reduction (absolute change scores 3% vs –6%, P=.03) measured on the OAQI.ConclusionsThe My Joint Pain Web resource does not significantly improve overall heiQ, but does improve other important aspects of quality of care in people with hip and/or knee OA. Further work is required to improve engagement with the website and the quality of information delivered in order to provide a greater impact.     

Exposure to a Patient-Centered,Web-Based Intervention for Managing Cancer Symptom and Quality of Life Issues: Impact on Symptom Distress

Background

Effective eHealth interventions can benefit a large number of patients with content intended to support self-care and management of both chronic and acute conditions. Even though usage statistics are easily logged in most eHealth interventions, usage or exposure has rarely been reported in trials, let alone studied in relationship to effectiveness.

Objective

The intent of the study was to evaluate use of a fully automated, Web-based program, the Electronic Self Report Assessment-Cancer (ESRA-C), and how delivery and total use of the intervention may have affected cancer symptom distress.

Methods

Patients at two cancer centers used ESRA-C to self-report symptom and quality of life (SxQOL) issues during therapy. Participants were randomized to ESRA-C assessment only (control) or the ESRA-C intervention delivered via the Internet to patients’ homes or to a tablet at the clinic. The intervention enabled participants to self-monitor SxQOL and receive self-care education and customized coaching on how to report concerns to clinicians. Overall and voluntary intervention use were defined as having ≥2 exposures, and one non-prompted exposure to the intervention, respectively. Factors associated with intervention use were explored with Fisher’s exact test. Propensity score matching was used to select a sample of control participants similar to intervention participants who used the intervention. Analysis of covariance (ANCOVA) was used to compare change in Symptom Distress Scale (SDS-15) scores from pre-treatment to end-of-study by groups in the matched sample.

Results

Radiation oncology participants used the intervention, overall and voluntarily, more than medical oncology and transplant participants. Participants who were working and had more than a high school education voluntarily used the intervention more. The SDS-15 score was reduced by an estimated 1.53 points (P=.01) in the intervention group users compared to the matched control group.

Conclusions

The intended effects of a Web-based, patient-centered intervention on cancer symptom distress were modified by intervention use frequency. Clinical and personal demographics influenced voluntary use.

Trial Registration

Clinicaltrials.gov {"type":"clinical-trial","attrs":{"text":"NCT00852852","term_id":"NCT00852852"}}NCT00852852; http://clinicaltrials.gov/ct2/show/{"type":"clinical-trial","attrs":{"text":"NCT00852852","term_id":"NCT00852852"}}NCT00852852 (Archived by WebCite at http://www.webcitation.org/6YwAfwWl7).     

Definition of Health 2.0 and Medicine 2.0: A Systematic Review

Background

During the last decade, the Internet has become increasingly popular and is now an important part of our daily life. When new “Web 2.0” technologies are used in health care, the terms “Health 2.0" or "Medicine 2.0” may be used.

Objective

The objective was to identify unique definitions of Health 2.0/Medicine 2.0 and recurrent topics within the definitions.

Methods

A systematic literature review of electronic databases (PubMed, Scopus, CINAHL) and gray literature on the Internet using the search engines Google, Bing, and Yahoo was performed to find unique definitions of Health 2.0/Medicine 2.0. We assessed all literature, extracted unique definitions, and selected recurrent topics by using the constant comparison method.

Results

We found a total of 1937 articles, 533 in scientific databases and 1404 in the gray literature. We selected 46 unique definitions for further analysis and identified 7 main topics.

Conclusions

Health 2.0/Medicine 2.0 are still developing areas. Many articles concerning this subject were found, primarily on the Internet. However, there is still no general consensus regarding the definition of Health 2.0/Medicine 2.0. We hope that this study will contribute to building the concept of Health 2.0/Medicine 2.0 and facilitate discussion and further research.     

Characteristics,behaviours and readiness of persons seeking hearing healthcare online

Objective: This study describes characteristics, behaviours and readiness of people who are interested in seeking hearing healthcare (HHC) online.

Design: A non-profit clinic was established from which services through a virtual clinic are offered. Most of the patient–audiologist interactions are conducted online. We used online means to invite individuals to take a free online digit-in-noise (DIN) test. Upon failing the test, individuals reported their readiness to seek HHC by using two tools: the line and the staging algorithm.

Study sample: Individuals ≥18?years of age, within the greater Durban area, South Africa, were eligible to participate in the study.

Results: A total of 462 individuals completed the online DIN test during the first 3?months. Of those, 58.66% (271/462) failed the test and 11.04% (51/462) submitted their details for further contact from the clinic audiologist. Five individuals proceeded to a comprehensive hearing evaluation and hearing aid trial: all those individuals showed readiness to seek further HHC on the measurement tools. These individuals have reported knowing of their hearing challenges prior to taking the test and have waited for a period of between 5 and 16 years before seeking HHC. A significant association between age and DIN test result was found.

Conclusion: This explorative study is the first clinic to utilise digital tools across the entire patient journey in combination with face-to-face interactions in providing HHC. Internet-connected devices provide an opportunity for individuals to seek HHC and for providers to offer initial services to detect, counsel and support persons through the initial engagement process of seeking HHC. This may open up new audiology patient pathways through online hearing screening, assessment of readiness to seek further HHC and enhancement of service delivery using hybrid services by combining online and face-to-face modes of synchronous and asynchronous communication.     

基于双聚类方法的国际电子健康素养领域研究热点分析

通过双聚类分析方法探讨国际电子健康素养领域研究热点,具体包括电子健康素养与医疗卫生服务研究、干预研究、实证调查研究、量表开发与验证研究、基于互联网的健康相关行为研究,以期为我国电子健康素养研究提供参考。