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A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer

Gray, Jonathon, Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Norman, Paul, Anglim, Cathy, France, Liz, Barton, Garry, Branston, Lucy, Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roberts, Elizabeth, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Cohen, David, Rogers, Cerilan, Mansel, Robert Edward ORCID: https://orcid.org/0000-0002-8051-0726 and Harper, Peter 2000. A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer. Journal of Medical Genetics 37 (3) , pp. 192-196. 10.1136/jmg.37.3.192

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Abstract

Randomised controlled trials allow comparisons to be made between different models of service delivery, but have not been used in the field of clinical genetics. With the advent of clinical governance, the evidence provided by such trials will be increasingly important in informing and shaping clinical genetics practice. The TRACE project (Trial of genetic assessment in breast cancer) is a randomised controlled trial of genetic assessment for women who are at increased risk of breast cancer because of their family history. The absence of cancer genetics service provision in Wales before this study gave a window of opportunity in which this important trial could be conducted. The present paper describes how TRACE will provide crucial evidence regarding the psychosocial as well as resource implications of adding individualised genetic assessment, genetic counselling, and (where appropriate) gene testing to typical advice and surveillance from a hospital breast clinic. In addition, it is anticipated that TRACE will represent a model for future trials of service delivery in the increasing number of complex genetic disorders where evidence on the economic implications of screening and management is currently limited.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Adult,BRCA2 Protein,Breast Neoplasms/genetics*,Evaluation Studies as Topic,Female,Genes, BRCA1,Genetic Counseling,Genetic Predisposition to Disease*,Genetic Testing*,Humans,Middle Aged,Neoplasm Proteins/genetics,Risk Assessment,Transcription Factors/genetics
Additional Information: Publication Types Clinical Trial Randomized Controlled Trial Research Support, Non-U.S. Gov't Full Text Sources HighWire Europe PubMed Central Ovid Technologies, Inc. ProQuest PubMed Central PubMed Central Canada Other Literature Sources COS Scholar Universe Medical Breast Cancer - MedlinePlus Health Information Genetic Testing - MedlinePlus Health Information
Publisher: BMJ Journals
ISSN: 0022-2593
Last Modified: 22 Jul 2023 01:12
URI: https://orca.cardiff.ac.uk/id/eprint/58305

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