Key Points
• Quality assurance encompasses all actions taken to establish, protect, promote and improve the quality of health care.
• Medical genetics services aim to help people with a genetic disadvantage to live and reproduce as normally as possible.
• Health transition has resulted in many middle- and low-income nations developing medical genetic services appropriate to their needs and circumstances.
• Health needs assessment is an objective, epidemiological evidence-based approach to commissioning and planning health services to improve population health.
• To assure quality in establishing of medical genetic services, middle- and low-income nations should consider undertaking health needs assessments.
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Notes
- 1.
A congenital disorder is defined as any abnormality of structure or function, including metabolism, which is present from birth. It is synonymous, and can be used interchangeably, with the term birth defect. Serious congenital disorders are those that are life threatening or have the potential to cause disability.3
- 2.
Complex disorders develop after birth, manifesting in childhood but mostly in mid and later life. They are complex because their aetiology is multifactorial, with the environmental component being mostly postnatal. By comparison with multifactorial congenital disorders (congenital malformations) they are clinically complex, being systemic and involving different organs and systems. They include a wide range of diseases including common disorders like cancer, diabetes, hypertension, mental disorders and stroke.
- 3.
Middle- and low-income nations is the term preferred for so-called “developing” nations. Middle- and low-income nations are defined by the World Bank.
- 4.
The WHO defines a control programme for congenital disorders as encompassing best possible care (diagnosis, treatment and genetic counselling with psychosocial support) available with prevention by community education, preconception care, medical genetic screening, genetic counselling, prenatal diagnosis and associated services. Preconception care, has recently been added to the original definition.
- 5.
Effectiveness is the degree to which possible improvements in health are actually attained (Donnabedian 2003).
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Christianson, A., Zimmern, R.L. (2010). Assuring Quality When Establishing Medical Genetic Services in Middle- and Low-Income Nations. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_14
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