Easy-to-use online referral test detects most patients with a high familial risk of colorectal cancer

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Publication year
2014Source
Colorectal Disease, 16, 1, (2014), pp. O26-34ISSN
Publication type
Article / Letter to editor

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Organization
IQ Healthcare
Human Genetics
Medical Oncology
Journal title
Colorectal Disease
Volume
vol. 16
Issue
iss. 1
Page start
p. O26
Page end
p. 34
Subject
Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences; Radboudumc 17: Women's cancers RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health SciencesAbstract
AIM: Currently only 12-30% of individuals with a high risk of Lynch syndrome, the most common hereditary colorectal cancer (CRC) syndrome, are referred for genetic counselling. We assessed the sensitivity, usability and user experiences of a new online referral test aimed at improving referral of high-risk individuals for genetic counselling. METHOD: Sensitivity was assessed by entering pedigree data from high-risk individuals (i.e. Lynch syndrome mutation carriers) into the referral test to determine whether genetic counselling was recommended. For usability, we assessed nonmedical staff members' ability to determine referral, according to guidelines, in seven fictive clinical cases using the referral test after minimal training. Real-life users answered questions about their experience with the referral test. RESULT: Sensitivity of the referral test was 91% for mutation carriers with CRC (n = 164) and 73% for all affected and nonaffected mutation carriers (n = 420). Nonmedical staff members (n = 20) determined referral according to guidelines in 84% of cases using the referral test. Ten per cent (256/2470) of real-life users provided feedback about experiences; of those, 71% reported that the referral test increased reassurance, certainty about their familial risk and/or certainty about referral. CONCLUSION: The referral test has a high sensitivity in detecting individuals with a high risk of Lynch syndrome and is suitable for use in clinical practice. Widespread use of the referral test should improve cancer prevention in high-risk patients and their relatives.
This item appears in the following Collection(s)
- Academic publications [227436]
- Electronic publications [107237]
- Faculty of Medical Sciences [86157]
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