Abstract
Primary care practitioners recognize that genetics is relevant to their daily practice, for example, for detecting and managing the risk of multifactorial disorders and genetic reproductive risks, and, in future, for targeted drug therapy. However, they lack confidence in their ability to apply genetic approaches. In fact, genetics is already ingrained in current practice, and the development of appropriate guidelines and web-based information resources will help practitioners to make personalized genetic risk assessment a part of holistic, patient-oriented primary health care.
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Acknowledgements
We thank Maren Khan for allowing us to use her data in figure 3. N.Q. received a proportion of his funding from the NHS Research and Development levy and from the Commonwealth Fund, New York; the views expressed in this publication are those of the authors and not necessarily those of the NHS executive or the Commonwealth Fund, its directors, officers or staff.
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DATABASES
OMIM
FURTHER INFORMATION
Accessible Publishing of Genetic Information
Ethical, legal and social issues (ELSI) surrounding the availability of genetic information
National Coalition for Health Professional Education in Genetics
NHS Sickle Cell & Thalassaemia Screening Programme
UK newborn screening programme centre
US National Newborn Screening and Genetic Resource Center
US Office of Genomics and Disease Prevention
Victorian (Australian) Government Genetic Health Education Resources
Glossary
- ATOPY
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The genetic tendency to develop the classic allergic diseases — atopic dermatitis, allergic rhinitis (hay fever), and asthma.
- BIOCHEMICAL GENETICS
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The study of the relationships between genes and enzymes, specifically the role of genes in controlling the steps in biochemical pathways.
- CYSTIC FIBROSIS
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An inherited disease that affects sodium channels in the body and causes respiratory and digestive problems. Cystic fibrosis affects the mucus and sweat glands of the body. Thick mucus is formed in the breathing passages of the lungs and this predisposes affected persons to chronic lung infections.
- HAEMOCHROMATOSIS
-
A hereditary disease characterized by improper processing of iron in the body. There is excessive absorption and storage of iron in affected individuals leading to damage of many organs including the liver and endocrine glands.
- HYPERLIPIDAEMIAS
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Elevation of certain types of serum lipoproteins which predisposes to atherosclerotic arterial disease.
- PHENYLKETONURIA
-
An inborn error of metabolism caused by lack of the enzyme that converts phenylalanine to tyrosine. It causes abnormally high phenylalanine levels and severe, progressive mental retardation if untreated, but toxic effects can be prevented by neonatal screening and a low phenylalanine diet from an early age.
- THALASSAEMIAS
-
Inherited disorders that are caused by the ineffective production of either the α- or β-globin chains of haemoglobin.
- TRIMESTER
-
One of the three successive three-month periods into which a pregnancy can be devided for clinical purposes.
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Qureshi, N., Modell, B. & Modell, M. Raising the profile of genetics in primary care. Nat Rev Genet 5, 783–790 (2004). https://doi.org/10.1038/nrg1453
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DOI: https://doi.org/10.1038/nrg1453
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