Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

Autor: W. K. T. Wong, Gillian Mitchell, Letitia Thrupp, Miriam Fine, Alison H. Trainer, Michelle Peate, Finlay A. Macrae, E. McPike, E. J. Cops, Judy Kirk, A Morrow, Rajneesh Kaur, Janet E. Hiller, Bettina Meiser, Ryan A. Austin, Robyn L. Ward, C Dowson
Rok vydání: 2020
Předmět:
0301 basic medicine
Adult
Male
Cancer Research
medicine.medical_specialty
Heterozygote
Salpingo-oophorectomy
Audit
030105 genetics & heredity
Hysterectomy
DNA Mismatch Repair
Risk Assessment
03 medical and health sciences
Patient safety
0302 clinical medicine
Stomach Neoplasms
Epidemiology
Gastroscopy
Genetics
medicine
Anticarcinogenic Agents
Humans
Genetic Testing
Genetics (clinical)
Risk management
Genetic testing
Ovarian Neoplasms
Medical Audit
medicine.diagnostic_test
Aspirin
business.industry
Reproducibility of Results
Guideline
Colonoscopy
Middle Aged
medicine.disease
Colorectal Neoplasms
Hereditary Nonpolyposis
Lynch syndrome
Endometrial Neoplasms
Oncology
030220 oncology & carcinogenesis
Family medicine
Patient Compliance
Female
Guideline Adherence
business
Risk assessment
Colorectal Neoplasms
Zdroj: Familial cancer. 19(4)
ISSN: 1573-7292
Popis: This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians’ recommendations of risk management strategies to carriers of pathogenic variants in mismatch repair genes and the extent to which carriers took up strategies in concordance with guidelines. Clinic files of 464 carriers (with and without colorectal cancer) were audited for carriers who received their genetic testing results in July 2008–July 2009 (i.e. before guideline release), July 2010–July 2011 and July 2012–July 2013 (both after guideline release) at 12 familial cancer clinics (FCCs) to ascertain the extent to which carriers were informed about risk management in accordance with guidelines. All carriers captured by the audit were invited to participate in interviews; 215 were interviewed to assess adherence to recommended risk management guidelines. The rates of documentation in clinic files increased significantly from pre- to post-guideline for only two out of eight risk management strategies. The strategies with the highest compliance of carriers post-guidelines were: uptake of one or two-yearly colonoscopy (87%), followed by hysterectomy to prevent endometrial cancer (68%), aspirin as risk-reducing medication (67%) and risk-reducing salpingo-oophorectomy (63%). Interrater reliability check for all guidelines showed excellent agreement (k statistics = 0.89). These results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.
Databáze: OpenAIRE
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