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Raising the profile of genetics in primary care

Nature Reviews Genetics volume 5, pages 783–790 (2004)Cite this article

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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Figure 1: Difficulty of disentangling genetic and environmental influences on disease in families.
Figure 2: Ways of using pedigrees in medical genetics care.
Figure 3: Four stages of antenatal screening.

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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.

Author information

Authors and Affiliations

  1. Division of Primary Care, School of Community Health Sciences, Medical School, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, United Kingdom

    Nadeem Qureshi

  2. Royal Free and University College London Medical School, Centre for Health Informatics and Multiprofessional Education (CHIME), Holburn Union Building, Whittingdon Campus, Highgate Hill, London, N19 5LW, United Kingdom

    Bernadette Modell

  3. Department of Primary Care and Population Sciences, Royal Free and University College London Medical School, Holburn Union Building, Whittingdon Campus, Highgate Hill, London, N19 5LW, United Kingdom

    Michael Modell

Authors
  1. Nadeem Qureshi
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Corresponding author

Correspondence to Nadeem Qureshi.

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Related links

Related links

DATABASES

International database on the legal, social and ethical aspects of human genetics, maintained by the University of Montreal

OMIM

Phenylketonuria

cystic fibrosis

Down syndrome

Tay–Sachs

thalassaemias

FURTHER INFORMATION

Accessible Publishing of Genetic Information

Cambridge Genetics Knowledge Park, Public Health Genetics Unit: Education in genetics for health professionals

Contact a Family

Ethical, legal and social issues (ELSI) surrounding the availability of genetic information

Genetics Resources on the Web

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

The genetic tendency to develop the classic allergic diseases — atopic dermatitis, allergic rhinitis (hay fever), and asthma.

BIOCHEMICAL GENETICS

The study of the relationships between genes and enzymes, specifically the role of genes in controlling the steps in biochemical pathways.

CYSTIC FIBROSIS

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

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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