RAGs: A Novel Approach to Computerized Genetic Risk Assessment and Decision Support from Pedigrees

A. S. Coulson; D. W. Glasspool; J. Fox; J. Emery

doi:10.1055/s-0038-1634427

Methods of Information in Medicine, Inhaltsverzeichnis

Methods Inf Med 2001; 40(04): 315-322
DOI: 10.1055/s-0038-1634427

Original Article

Schattauer GmbH

RAGs: A Novel Approach to Computerized Genetic Risk Assessment and Decision Support from Pedigrees

Authors

A. S. Coulson

¹Advanced Computation Laboratory, Imperial Cancer Research Fund, London, United Kingdom
D. W. Glasspool

¹Advanced Computation Laboratory, Imperial Cancer Research Fund, London, United Kingdom
J. Fox

¹Advanced Computation Laboratory, Imperial Cancer Research Fund, London, United Kingdom
J. Emery

²General Practice & Primary Care Research Unit, Department of Public Health & Primary Care, University of Cambridge, Institute of Public Health, Cambridge, United Kingdom

Abstract

Summary

Objectives: To assist general practitioners in evaluating patients’ genetic risk of cancer on the basis of family history data.

Methods: A new computer application, RAGs (Risk Assessment in Genetics), has been developed to help doctors create graphical family trees and assess the genetic risk of breast and colorectal cancer. RAGs possesses two features that distinguish it from similar software: (i) a user-centred design, which takes into account the requirements of the doctor-patient encounter; (ii) effective and accessible risk reporting by employing qualitative evidence for or against increased risk, which is more easily understood than numerical probabilities. The system allows any rule-based genetic risk guideline to be implemented, and may be readily modified to cater for the varying degrees of information required by different specialists.

Results: RAGs permits fast, accurate data entry, and results in more appropriate management decisions than those made via other techniques. In addition, RAGs enables both the clinician and the patient to understand how it arrives at its conclusions, since the use of qualitative evidence allows the program to provide explanations for its reasoning.

Conclusions: The RAGs system promises to help practitioners be more effective gatekeepers to genetic services. It may empower doctors both to make an informed choice when deciding to refer patients who are at increased genetic risk of breast or colorectal cancer, and to reassure those who are at low risk.

Keywords

Genetic Predisposition - Family Tree - Computer-assisted Decision Making - Primary Care

Volltext

Referenzen

References
1 Bell J. The new genetics: The new genetics in clinical practice. BMJ 1998; 316: 618-20.
2 Kinmonth AL, Reinhard J, Bobrow M, Pauker S. The new genetics: Implications for clinical services in Britain and the United States. BMJ 1998; 316: 767-70.
3 Harris R, Harris H. Primary care for patients at genetic risk. BMJ 1995; 311: 275-6.
4 Collins F. BRCA1 – Lots of mutations, lots of dilemmas. New Engl J Med 1996; 334: 186-8.
5 Scheuner MT, Wang S, Raffel LJ, Larabell SK, Rotter JI. Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genet 1997; 71: 315-24.
6 Fry A, Campbell H, Gudmundsdottir H, Rush R, Porteous M, Gorman D, Cull A. General practitioners’ views on their role in cancer genetics and current practice. Fam Prac; in press.
7 Emery J, Walton R, Coulson A, Glasspool D, Ziebland S, Fox J. Computer support for recording and interpreting family histories of breast and ovarian cancer in primary care (RAGs): qualitative evaluation with simulated patients. BMJ 1999; 319 7201 32-6.
8 Suchard MA, Yudkin P, Sinsheimer JS. Are general practitioners willing and able to provide genetic services for common diseases?. Br J Gen Prac 1999; 49: 45-6 and J Genet Counsel, in press.
9 Watson E, Shickle D, Qureshi N, Emery J, Austoker J. The ‘new genetics’ and primary care: GPs’ views on their role and their educational needs. Fam Prac 1999; 16: 420-5.
10 Davis DA, Thomson MA, Oxman AD, Haynes B. Evidence for the effectiveness of CME: A review for 40 randomized controlled trials. J Am Med Assoc 1992; 268: 1111-7.
11 Emery J, Watson E, Rose P, Andermann A. A systematic review of the literature exploring the role of primary care in genetic services. Fam Prac 1999; 16: 426-45.
12 Emery J. Computer support for genetic advice in primary care. Br J Gen Prac 1999; 4: 572-5.
13 Chapman C. Cyrillic pedigree drawing software (v. 3.0.1). Cherwell Scientific Publishing: Oxford; 1999. www.cyrillicsoftware.com ( www.cherwell.com.uk ).
14 Progeny Software.. Progeny pedigree drawing software (v. 2.0.06). Genetic Data Systems, LLC: Indiana; 1998. www.progeny2000.com.
15 Ranyard R, Crozier WR, Svenson O. eds. Decision Making: Cognitive Models and Explanations. Chapters 7, 8 and 9. Routledge: London and New York; 1997
16 Fox J, Hardman D, Krause P, Ayton P, Judson P. Risk assessment and communication: A cognitive engineering approach. In: Proceedings of Expert Systems ’95. Cambridge University Press; 1995
17 Krause P, Fox J, Judson P. Is there a role for qualitative risk assessment?. In: Proceedings of the 11th Conference on Uncertainty in Artificial Intelligence 1995. Montreal Quebec Canada.
18 Fox J, Krause P, Ambler S. Arguments, contradictions and practical reasoning. In: Neumann B. ed. Proceedings of the 10th European Conference on AI 1992: 623-7. ECAI92, Vienna, Austria:
19 Fox J. On the necessity of probability: Reasons to believe and grounds for doubt. In: Wright G, Ayton P. eds. Subjective Probability. John Wiley; Chichester: 1994
20 Parsons S, Fox J. Argumentation and decision making: A position paper. In: Proceedings of the International Conference on Formal and Applied Practical Reasoning. Springer-Verlag: Berlin; 1996: 705-9.
21 Fox J, Thomson R. Decision support and disease management: A logic engineering approach. IEEE Transac Info Tech Biomed. 1998 2:4 Special Issue, December.
22 Walton RT, Gierl C, Yudkin P, Mistry H, Vessey MP, Fox J. Evaluation of computer support for prescribing (CAPSULE) using simulated cases. BMJ 1997; 315: 791-5.
23 Taylor P, Fox J, Todd-Pokropek A. The development and evaluation of CADMIUM: A prototype system to assist in the interpretation of mammograms. Med Image Anal 1999; 3 (Suppl. 04) 321-37.
24 Round AP. A novel pedigree plotting algorithm. Cytogen Cell Genet 1992; 59: 133-5.
25 Coulson A, Glasspool D. The RAGs software: Pedigree layout algorithm. Imperial Cancer Research Fund; London, UK: 2000. Full algorithm available at www.acl.icnet.uk/ragsalgorithm.
26 Fox J, Johns N, Lyons C, Rahmanzadeh A, Thomson R, Wilson P. PROforma: A general technology for clinical decision support systems. Comp Meth Prog Biomed 1997; 54: 59-67. Information also available at www.acl. icnet.uk.
27 Fox J, Johns N, Rahmanzadeh A. Disseminating medical knowledge: The PROforma approach. Artific Intel Med 1998; 14 1-2 157-82.
28 InferMed.. Arezzo guideline authoring language. Infer Med Ltd: London; 1999. www.InferMed.com.uk.
29 Emery J. The RAGs software: Genetic risk assessment guidelines for breast/ovarian and colorectal cancer. Imperial Cancer Research Fund, General Practice Research Group; Oxford, UK: 1999. Full guidelines available at www.acl.icnet.uk/rags/guidelines.
30 Report of the Consensus Meeting on the Management of Women with a Family History of Breast Cancer. Wellcome Trust; 1998
31 Claus E, Schildkraut J, Thompson WD, Risch N. The genetic attributable risk of breast and ovarian cancer. Cancer 1996; 77: 2318-24.
32 Emery J, Walton R, Murphy M, Austoker J, Yudkin P, Chapman C, Coulson A, Glasspool D, Fox J. Computer support for recording and interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. BMJ 2000; 321 7252 28-32.
33 Timpka T, Rauch E, Nyce JM. Towards productive knowledge-based systems in clinical organizations: A methods perspective. Artific Intel Med 1994; 6 (Suppl. 06) 501-19.
34 Delaney BC, Fitzmaurice DA, Riaz A, Hobbs FDR. Can computerized decision support systems deliver improved quality in primary care?. BMJ 1999; 319: 1281.
35 Fox J, Cooper R. Cognitive processing and knowledge representation in decision making under uncertainty. Psychologische Beitrage 1997; Special Issue on Qualitative Aspects of Decision Making.
36 Cooper R, Fox J. Learning to make decisions under uncertainty. The contribution of qualitative reasoning. In: Shafto MG, Langley P. eds. Proceedings of the 19th Annual Conference of the Cognitive Science Society. 1997: 125-30.
37 Yule P, Cooper R, Fox J. Normative and information processing accounts of decision making. In: Proceedings of the 20th Annual Conference of the Cognitive Science Society. 1998
38 Glasspool DW, Fox J. Understanding probability words by constructing concrete mental models. In: Hahn M, Stoness SC. eds. Proceedings of the 21st Annual Conference of the Cognitive Science Society. 1999: 185-90.