In the near future, professionals at all levels of health services, including primary health care, will need to be able to inform patients clearly and correctly about the health implications of many different DNA variants. This growing need presents a major information challenge for health systems. We propose that the challenge can be met by bringing together bioinformatics (supporting genetics) and health informatics (supporting clinical services and public health), into a new area of clinical and applied bioinformatics supporting community genetics. We are currently investigating the approach using the model of screening for haemoglobin disorders (see www.chime.ucl.ac.uk/APoGI/).

1.
WHO: Community approaches to the control of hereditary diseases. Report of a WHO Advisory Group on Hereditary Diseases. Geneva, October 1985, unpubl WHO document HMG/AG/85.10.
2.
Modell B, Kuliev AM, Wagner M: Community genetics services in Europe. WHO Reg Publ Eur Ser 1992;38.
3.
Alwan AA, Modell B: Community control of genetic and congenital disorders. EMRO Tech Publ Ser 1997;24.
4.
Fletcher JC, Berg K, Tranoy KE: Ethical aspects of medical genetics. A proposal for guidelines in genetic counselling, prenatal diagnosis and screening. Clin Genet 1985;27:199–205.
5.
Modell B, Kuliev A: The history of community genetics: The contribution of the haemoglobin disorders. Community Geneti 1998;1:3–11.
6.
WHO: Guidelines for control of haemoglobin disorders; unpubl document of the WHO. WHO/HDP/HB/GL/94.1. Hereditary Diseases Programme. WHO, Geneva, 1994.
7.
Angastiniotis MA, Kyriakidou S, Hadjiminas M: How thalassaemia was controlled in Cyprus. World Health Forum 1986;7:291–297.
8.
Cao A, Rosatelli C, Galanello R: Population-based genetic screening. Current opinion in genetics and development 1991;1:48–53.
9.
Loukopoulos D: Current status of thalassaemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33:76–86.
10.
Modell B, Harris R, Lane B, Khan M, Darlison M, Petrou M, Old J, Layton M, Varnavides L: Informed choice in genetic screening for thalassaemia during pregnancy: Audit from a national confidential enquiry. BMJ 2000;320:325–390.
11.
Huisman THJ, Carver MFH, Baysal E: A syllabus of thalassemia mutations. The Sickle Cell Anemia Foundation, Augusta, 1997.
12.
Huisman THJ, Carver MFH, Efremov GD: A syllabus of human hemoglobin variants. The Sickle Cell Anemia Foundation, Augusta, 1996.
13.
Anionwu EN: Ethnic origin of sickle and thalassaemia counsellors; does it matter? in Kelleher D, Hillier S (eds): Research in Cultural Differences in Health. London, Routledge, 1996.
14.
Gould D, Thomas V, Darlison M: The role of the haemoglobinopathy nurse counsellor: An exploratory study. J Adv Nurs 2000;31:157–164.
15.
Schoffski O, Schmidke J, Stuhrmann M: Cost-effectiveness of population-based genetic hemochromatosis screening. Community Genet 2000;3:2–11.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.