The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.
Exome ; Genetics, Medical ; Genome ; Humans

The core of the Family Medicine (FM) vision is patient-centred care, requiring specific education and vocational training. We traced how FM education started and what have been achieved. FM training began in 1971 with the formation of the College of General Practitioners Singapore. Previously, training consisted of self-directed learning, lunchtime talks and examination preparation courses run by hospital specialists. Formal FM vocational training programmes in the United Kingdom and Australia provided the model for a 3-year programme in 1988. The tripartite relationship between the local university, College of Family Physicians and Ministry of Health, together with a structured training programme, contributed to its success. To date, more than 240 Family Physicians in Singapore have been awarded the Masters in Medicine (FM) degree. The Graduate Diploma in Family Medicine programme (GDFM) was introduced in 2000 for Family Physicians who wished to practice at an enhanced level. This programme has trained 194 doctors since then. Behind the scenes, the following were important developments: counterculture with a difference, tripartite stake-holding, training the trainers and learning from others. For the FM undergraduate programme, our aim is to develop the knowledge base, core values and roles of the Family Physician. Sustaining the value of Family Medicine as a career choice is the enduring vision.
Credentialing ; history ; Education, Medical, Continuing ; history ; Education, Medical, Graduate ; history ; Family Practice ; education ; history ; History, 20th Century ; History, 21st Century ; Humans ; Singapore

INTRODUCTIONThe implementation of competency-based internal medicine (IM) residency programme that focused on the assurance of a set of 6 Accreditation Council for Graduate Medical Education (ACGME) core competencies in Singapore marked a dramatic departure from the traditional process-based curriculum. The transition ignited debates within the local IM community about the relative merits of the traditional versus competency-based models of medical education, as well as the feasibility of locally implementing a training structure that originated from a very different healthcare landscape. At the same time, it provided a setting for a natural experiment on how a rapid integration of 2 different training models could be achieved.

MATERIALS AND METHODSOur department reconciled the conflicts by systematically examining the existing training structure and critically evaluating the 2 educational models to develop a new training curriculum aligned with institutional mission values, national healthcare priorities and ACGME-International (ACGME-I) requirements.

RESULTSGraduate outcomes were conceptualised as competencies that were grouped into 3 broad areas: personal attributes, interaction with practice environment, and integration. These became the blueprint to guide curricular design and achieve alignment between outcomes, learning activities and assessments. The result was a novel competency-based IM residency programme that retained the strengths of the traditional training model and integrated the competencies with institutional values and the unique local practice environment.

CONCLUSIONWe had learned from this unique experience that when 2 very different models of medical education clashed, the outcome may not be mere conflict resolution but also effective consolidation and transformation.

Accreditation ; Clinical Competence ; Curriculum ; Education, Medical, Graduate ; Internal Medicine ; education ; Internship and Residency ; Models, Educational ; Negotiating ; Singapore

In many countries, family medicine (FM) training has been conducted mainly by senior family physicians alone. However, FM training in Singapore in the last 30 years has involved specialists working in close collaboration with family physicians. The areas in which specialists are currently involved include the training of FM trainees in tertiary hospitals, the Master of Medicine in Family Medicine [MMed (FM)] and Graduate Diploma in Family Medicine (GDFM) programmes. This close relationship has been crucial in the continuing vocational and professional development of family physicians and in fostering closer collaboration between family physicians and specialists, thus ultimately benefiting patient care.
Education, Medical, Graduate ; Humans ; Interdisciplinary Communication ; Medicine ; Physicians, Family ; education ; Singapore ; Specialization

INTRODUCTIONThis study investigated the effect of an access-enhanced intervention on hypertension screening and management, as well as on health behaviours among newly diagnosed hypertensives, in a multi-ethnic low socioeconomic status (SES) community. Factors associated with hypertension screening, treatment, and control in the community were also determined.

MATERIALS AND METHODSThe study involved all residents aged ≥40 years in 2 public rental housing precincts (low SES), between 2009 and 2011, who were followed-up prospectively for 1 year after a 6-month community-based intervention comprising a 3-month access-enhanced screening component and a 3-month follow-up (outreach) component. Blood pressure was measured at baseline and follow-up. Multivariate Cox regression determined predictors of hypertension management at follow-up.

RESULTSThe follow-up rate was 80.9% (467/577). At baseline, 60.4% (282/467) were hypertensive; 53.5% (151/282) were untreated; 54.2% (71/131) uncontrolled. One year later, postintervention, 51.6% (78/151) of untreated hypertensives were treated; combined with treated hypertensives previously uncontrolled, 53.0% (79/149) achieved control. Older age independently predicted treatment (adjusted relative risk, aRR = 1.98, CI, 1.08 to 3.65); majority ethnicity (aRR = 1.76, CI, 1.05 to 2.96), employment (aRR = 1.85, CI, 1.26 to 2.80) and newly treated hypertension (aRR=1.52, CI, 1.01 to 2.32) predicted control. A total of 52.4% (97/185) were irregularly screened at baseline; at follow-up 61.9% (60/97) were regularly screened. Cost and misperceptions were common barriers to screening and treatment. Newly diagnosed hypertensives were also less likely to go for additional cardiovascular screening (aRR = 0.54, CI, 0.29 to 0.99).

CONCLUSIONAn access-enhanced intervention had some success in improving hypertension management within low SES communities; however, it was less successful in improving cardiovascular risk management, especially in encouraging lifestyle changes and additional cardiovascular screening amongst newly diagnosed hypertensives.

Adult ; Age Factors ; Aged ; Antihypertensive Agents ; therapeutic use ; Asian Continental Ancestry Group ; statistics & numerical data ; Diet, Sodium-Restricted ; methods ; Exercise Therapy ; methods ; Female ; Health Services Accessibility ; statistics & numerical data ; Humans ; Hypertension ; diagnosis ; ethnology ; therapy ; Male ; Mass Screening ; Middle Aged ; Multivariate Analysis ; Patient Compliance ; ethnology ; statistics & numerical data ; Patient Dropouts ; statistics & numerical data ; Poverty ; statistics & numerical data ; Proportional Hazards Models ; Prospective Studies ; Risk Reduction Behavior ; Singapore ; Smoking Cessation ; methods ; Social Class ; Treatment Outcome ; Weight Reduction Programs ; methods

The Ministry of Health (MOH) has updated the Clinical Practice Guidelines on Chronic Obstructive Pulmonary Disease (COPD) to provide doctors and patients in Singapore with evidence-based treatment for COPD. This article reproduces the introduction and executive summary (with recommendations from the guidelines) from the MOH Clinical Practice Guidelines on COPD, for the information of SMJ readers. Chapters and page numbers mentioned in the reproduced extract refer to the full text of the guidelines, which are available from the Ministry of Health website: https://www.moh.gov.sg/content/moh_web/healthprofessionalsportal/doctors/guidelines/cpg_medical.html. The recommendations should be used with reference to the full text of the guidelines. Following this article are multiple choice questions based on the full text of the guidelines.
Adult ; Aged ; Evidence-Based Medicine ; Humans ; Middle Aged ; Palliative Care ; Prevalence ; Pulmonary Disease, Chronic Obstructive ; diagnosis ; therapy ; Pulmonary Medicine ; standards ; Quality Improvement ; Radiography, Thoracic ; Risk Factors ; Singapore ; Steroids ; therapeutic use