Dataset Information

Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study.

ABSTRACT: The adoption of universal mismatch repair screening of colorectal and endometrial cancers has the potential to improve detection of Lynch syndrome, as well as to improve health outcomes among cancer patients and their family members. Electronic patient health records represent an innovative, resource-efficient route of delivering results directly to patients that could be enhanced by multimedia interventions to improve critical downstream outcomes. The current study examines the feasibility and acceptability of this approach.Patients hospitalized for resection of colorectal or endometrial cancer were recruited to receive their mismatch repair result via institutional electronic patient health record. Baseline and follow-up assessments were conducted.In all, 74% (49/66) of eligible patients consented, and 81% (29/36) of participants who had a result posted to their electronic patient health record completed follow-up, surpassing feasibility thresholds, with 14% (5/36) receiving an abnormal result. Ratings of the study approach surpassed the acceptability threshold--97% had a mean score of ? 4 on a 7-point scale--and were high, regardless of whether the results were normal or abnormal. Ineligibility was more common among non-white patients (P = 0.009) and patients ? 65 of age (P = 0.035) due to either low Internet use or access to the Internet.Electronic patient health record-based result disclosure for mismatch repair screening is feasible to study and is acceptable to patients, but minority and elderly patients may experience greater barriers to participation.Genet Med 16 11, 854-861.

SUBMITTER: Hall MJ

PROVIDER: S-EPMC4216634 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study.

Hall Michael J MJ Herda Meagan M MM Handorf Elizabeth A EA Rybak Christina C CC Keleher Cindy A CA Siemon Mark M Daly Mary B MB

Genetics in medicine : official journal of the American College of Medical Genetics 20140501 11

<h4>Purpose</h4>The adoption of universal mismatch repair screening of colorectal and endometrial cancers has the potential to improve detection of Lynch syndrome, as well as to improve health outcomes among cancer patients and their family members. Electronic patient health records represent an innovative, resource-efficient route of delivering results directly to patients that could be enhanced by multimedia interventions to improve critical downstream outcomes. The current study examines the ...[more]

PMID: 24784156

Similar Datasets

Project description:Universal screening for Lynch syndrome in colorectal cancer is recommended, and immunohistochemistry for the mismatch repair proteins is commonly used. To reduce cost, some screen using only MSH6 and PMS2, with reflex to the partner stain if either are absent (two-stain method). An expression pattern revealing absent MSH2 and intact MSH6 is not expected, but could result in failed Lynch syndrome detection. We analyzed tumors with absent MSH2 but any degree of MSH6 expression to determine if the two-stain method could miss MSH2 mutations. One-thousand seven-hundred thirty colorectal cancer patients from the Ohio Colorectal Cancer Prevention Initiative underwent tumor screening using microsatellite instability and immunohistochemistry. The two-stain method was used for 1235 cases; staining for all four proteins was completed for 495 cases. The proportion of positive cells and staining intensity were reviewed for MSH6, as well as MSH2 when available. Patients with mismatch repair deficiency underwent next-generation sequencing of germline DNA for mismatch repair genes. If negative, tumor next-generation sequencing was performed to assess for somatic mutations. Overall, thirty-three (1.9%, 33/1730) MSH2-absent cases were identified. Of those, fourteen had no MSH6 expression but eight (0.5%, 8/1730) had ambiguous and eleven (0.6%, 11/1730) had convincing MSH6 expression that could have been interpreted as intact. Germline next-generation sequencing identified MSH2 mutations in 11/14 cases with absence of both stains, 7/8 cases with ambiguous MSH6 expression, and 9/11 cases with convincing MSH6 expression. All remaining cases, except one, had double somatic mutations. The two-stain method fails to detect some patients with Lynch syndrome: (1) significant staining weaker than the control may be incorrectly interpreted as intact MSH6, or (2) Weak or focal/patchy MSH6 can be retained with the absence of MSH2. Accordingly, we recommend the four-stain method be used for optimal Lynch syndrome screening detection.

Dataset Information

Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study.

Publications

Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets