Background: With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. Objectives: To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. Methods: We conducted a literature review of genetics in clinical practice: testing, diagnosis, counselling, and treatment. We examined the basic structures of genetic services, examples of integrated networks, and existing professional resources. We investigated services belonging traditionally in medical genetics as well as those developed for more common diseases. Results: Multidisciplinary specialist clinics and coordinated services appeared to be key to delivering proper care in rare genetic disorders. For oncogenetics, neurogenetics and cardiogenetics, interprofessional collaboration between geneticists and other specialists seemed to be favoured. On the other hand, there was also a tendency toward the integration of genetic services directly into primary care. Among the most pressing challenges was the morphing of paediatric care into adult care. Conclusion: The coordination of activities between professionals in first-, second-, and third-line medical care is a primary objective calling for the reconfiguration of professional roles and responsibilities. This entails the forging of new relationships as well as an enhanced sharing of expertise and genetic information, including information regarding services. Barriers to overcome include the redistribution of roles, sharing of data and databases, and the lack of preparedness of non-genetics professionals and of the health care system in general.

BackgroundOver recent decades, the prevalence of pediatric obesity has increased markedly in developed and developing countries, and the impact of obesity on health throughout the lifespan has led to urgent calls for action. Family-based weight management interventions that emphasize healthy lifestyle changes can lead to modest improvements in weight status of children with obesity. However, these interventions are generally short in duration, reported in the context of randomized controlled trials and there are few reports of outcomes of these treatment approaches in the clinical setting. Answering these questions is critical for improving the care of children with obesity accessing outpatient health services for weight management. In response, the CANadian Pediatric Weight management Registry (CANPWR) was designed with the following three primary aims:1. Document changes in anthropometric, lifestyle, behavioural, and obesity-related co-morbidities in children enrolled in Canadian pediatric weight management programs over a three-year period;2. Characterize the individual-, family-, and program-level determinants of change in anthropometric and obesity-related co-morbidities;3. Examine the individual-, family-, and program-level determinants of program attrition.Methods/DesignThis prospective cohort, multi-centre study will include children (2–17 years old; body mass index ≥85th percentile) enrolled in one of eight Canadian pediatric weight management centres. We will recruit 1,600 study participants over a three-year period. Data collection will occur at presentation and 6-, 12-, 24-, and 36-months follow-up. The primary study outcomes are BMI z-score and change in BMI z-score over time. Secondary outcomes include anthropometric (e.g., height, waist circumference,), cardiometabolic (e.g., blood pressure, lipid profile, glycemia), lifestyle (e.g., dietary intake, physical activity, sedentary activity), and psychosocial (e.g., health-related quality of life) variables. Potential determinants of change and program attrition will include individual-, family-, and program-level variables.DiscussionThis study will enable our interdisciplinary team of clinicians, researchers, and trainees to address foundational issues regarding the management of pediatric obesity in Canada. It will also serve as a harmonized, evidence-based registry and platform for conducting future intervention research, which will ultimately enhance the weight management care provided to children with obesity and their families.

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We report a new case of hereditary hepatic glycogen synthase (GS) deficiency (MIM 240600) in a French Canadian girl referred at 7 years of age for a family history of hyperlipidemia. Her initial evaluation incidentally revealed fasting hypoglycemia and ketonuria after a 10-hr fast with normal growth, development, and physical examination. Additional biochemical findings included fasting hypoalaninemia with elevated plasma branched chain amino acids and postprandial hyperlactatemia. Liver glycogen synthase activity was reduced. Unlike most other reported patients, we observed on three different occasions an increase in fasting plasma glucose levels after glucagon administration during episodes of hypoglycemia. At 13 years of age, her growth and intellect are normal; however, she still has hypoglycemia after 18 hr of fasting. From our patient's course and a review of the literature, we conclude: (A) Usual modes of presentation of GS deficiency are non-specific symptoms after overnight fasting (7/17), incidental findings (3/17), or positive family history (7/17); (B) Most patients maintain normal growth (8/11) and intellectual abilities (12/15); (C) Fasting hypoglycemia (17/17) and reduced liver glycogen content (9/9) are constant features; (D) Biochemical findings also include postprandial hyperlactatemia (13/13), fasting hyperketonemia (12/12), and fasting hypoalaninemia (8/9); (E) Glucagon response following fasting hypoglycemia is usually reduced or absent (7/8) but can be repeatedly present (1/8); (F) Liver steatosis is frequent (6/6). Although rare, GS deficiency results in a characteristic biochemical profile that, if recognized, should lead promptly to its diagnosis.