Title
Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Date Issued
01 August 2022
Access level
open access
Resource Type
journal article
Author(s)
Hodan R.
Rodgers-Fouche L.
Arora S.
Kanth P.
Katona B.W.
Mraz K.A.
Roberts M.E.
Vilar E.
Soto-Azghani C.M.
Brand R.E.
Esplin E.D.
Perez K.
Hospital The Norwegian Radium
Publisher(s)
John Wiley and Sons Inc
Abstract
Clinical guidelines recommend universal tumor screening (UTS) of colorectal and endometrial cancers for Lynch syndrome (LS). There are limited guidelines for how to integrate germline testing and somatic tumor testing after a mismatch repair deficient (dMMR) tumor is identified. We sought to characterize current practice patterns and barriers to preferred practice among clinical providers in high-risk cancer programs. A clinical practice survey was sent to 423 active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC) with a follow-up survey sent to 103 clinician responders. The survey outlined clinical vignettes and asked respondents their preferred next test. The survey intended to assess: (1) the role of patient age and family history in risk assessment and (2) barriers to preferred genetic testing. Genetic test options included targeted germline testing based on dMMR expression, germline testing for LS, germline testing with a multigene cancer panel including LS, or paired tumor/germline testing including LS. In October 2020, 117 of 423 (28%) members completed the initial survey including 103 (88%) currently active clinicians. In April 2021, a follow-up survey was sent to active clinicians, with 45 (44%) completing this second survey. After selecting their preferred next germline or paired tumor/germline tumor test based on the clinical vignette, 39% of respondents reported wanting to make a different choice for the initial genetic test without any testing barriers. The proportion of respondents choosing a different initial genetic test was dependent on the proband's age at diagnosis and specified family history. The reported barriers included patient's lack of insurance coverage, patient unable/unwilling to self-pay for proposed testing, and inadequate tumor tissue. Responders reported insurance, financial constraints, and limited tumor tissue as influencing preferred genetic testing in high-risk clinics, thus resulting in possible under-diagnosis of LS and impacting potential surveillance and cascade testing of at-risk relatives.
Start page
949
End page
955
Volume
31
Issue
4
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-85125253987
PubMed ID
Source
Journal of Genetic Counseling
ISSN of the container
10597700
Sponsor(s)
Arora performs collaborative research (with no funding) with Caris Life Sciences, Foundation Medicine, Inc., Ambry Genetics, and Invitae Corporation. Arora has patents and/or pending patents related to cancer diagnostics/treatment. Arora's spouse is employed by Akoya Biosciences and has stocks in Akoya Biosciences, HTG Molecular Diagnostics, Abcam Plc., and Senzo Health. Arora was supported by the DOD W81XWH‐18‐1‐0148, and a CEP grant from the Yale Head and Neck Cancer SPORE. Roberts is an employee of GeneDx/BioReference Laboratories, Inc./OPKO Health and has salary as her only disclosure. Esplin is an employee and stockholder of Invitae. Perez declares a one‐time Pancreatic Advisory Board fee for Celgene (5/2019), a one‐time HCC Advisory Board fee for Eisai (11/2019), and a one‐time Cholangiocarcinoma Advisory Board for Helsinn/QED (5/2021).
Sources of information: Directorio de Producción Científica Scopus