domingo, 6 de mayo de 2018

Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium. - PubMed - NCBI

2018 Apr 24. pii: S1542-3565(18)30384-7. doi: 10.1016/j.cgh.2018.04.025. [Epub ahead of print]

Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium.

Pan JY1, Haile RW2, Templeton A3, Macrae F4, Qin F5, Sundaram V5, Ladabaum U6.

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Abstract

BACKGROUND AND AIMS:

Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts METHODS: We collected data from the International Mismatch Repair Consortium [IMRC], which comprises major research and clinical groups engaged in the care of families with Lynch syndrome worldwide. IMRC institutions were invited to complete a questionnaire to characterize diagnoses of Lynch syndrome and management practice patterns.

RESULTS:

Fifty-five providers, representing 63 of 128 member institutions (49%) in 21 countries, completed the questionnaire. For case finding, 55% of respondents reported participating in routine widespread population tumor testing among persons with newly diagnosed Lynch syndrome-associated cancers, whereas 27% reported relying on clinical criteria with selective tumor and/or germline analyses. Most respondents (64%) reported using multi-gene panels for germline analysis, and only 28% reported testing tumors for biallelic mutations for cases where suspected pathogenic mutations were not confirmed by germline analysis. Respondents reported relying upon passive dissemination of information to at-risk family members, and there was variation in follow through of genetic testing recommendations. Reported risk management practices varied-nearly all programs (98%) recommended colonoscopy every 1-2 years, but only 35% recommended chemoprevention with aspirin.

CONCLUSIONS:

There is widespread heterogeneity in management practices for Lynch syndrome worldwide among IMRC member institutions. This may reflect the rapid pace of emerging technology, regional differences in resources, and the lack of definitive data for many clinical questions. Future efforts should focus on the large numbers of high-risk patients without access to state of the art Lynch syndrome management.