Effective communication of molecular genetic test results to primary care providers

Scheuner, Maren T.; Edelen, Maria Orlando; Hilborne, Lee H.; Lubin, Ira M.

doi:10.1038/gim.2012.151

Cited by 30 publications

(40 citation statements)

References 23 publications

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“…The proposed outline is adapted from the descriptions recommended by multiple groups for the format of molecular genetic reports [Lubin et al, 2009; Scheuner et al, 2012, 2013]. Final indication-specific and IF sample reports are provided in the Supplemental Materials (Figs.…”

Section: Resultsmentioning

confidence: 99%

Refining the structure and content of clinical genomic reports

Dorschner¹,

Amendola²,

Shirts³

et al. 2014

American J of Med Genetics Pt C

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To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. To communicate results of a randomized control trial aimed at the evaluation of exome sequencing for clinical medicine, we developed a structured narrative report. With feedback from genetics and non-genetics professionals, we developed separate indication-specific and incidental findings reports. Standard test report elements were supplemented with research study-specific language, which highlighted the limitations of exome sequencing and provided detailed, structured results, and interpretations. The report format we developed to communicate research results can easily be transformed for clinical use by removal of research-specific statements and disclaimers. The development of clinical reports for exome sequencing has shown that accurate and open communication between the clinician and laboratory is ideally an ongoing process to address the increasing complexity of molecular genetic testing.

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Section: Resultsmentioning

confidence: 99%

Refining the structure and content of clinical genomic reports

Dorschner¹,

Amendola²,

Shirts³

et al. 2014

American J of Med Genetics Pt C

View full text Add to dashboard Cite

show abstract

“…Laboratories should review these basic elements and ensure that their reports meet these basic standards. Including these may help in communicating results and with efforts to reclassify findings of unknown significance. The Model format is preferred and has been shown to be effective (Scheuner et al, ). Laboratories should consider adapting this format. Citation of sources is a key element of reporting.…”

Section: Discussionmentioning

confidence: 99%

“…These standards included eight content elements. In addition, several studies have examined providers' reporting preferences for other elements that may be desirable (Haga et al, 2014;Scheuner, Edelen, Hilborne, & Lubin, 2013;Scheuner, Hilborne, Brown, & Lubin, 2012;Stuckey et al, 2015;Williams et al, 2016). Non-ACMG elements identified in the literature include the following: Model formatting of the report, information presented in a table, the reason the test was ordered (e.g., the diagonals code), references to practice guidelines (i.e., treatment or management information), inter active hyperlinks to relevant information, patient resources, secondary findings, potential "next steps," and a "patient-fac ing" report written for the patient with minimal technical or medical jargon and using simpler language overall (Haga et al, 2014;Williams et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients

Erby

Fiallos

et al. 2019

Molec Gen & Gen Med

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Purpose To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. Methods We retrospectively analyzed genomic testing reports from 2011 to 2016 provided to, or by our laboratory to aid in clinical detection and interpretation of copy number variants. Analysis was restricted to the following sections: interpretation, recommendations, limitations, and citations. Analysis included descriptive characteristics, reporting elements, reading difficulty using the Simple Measure of Gobbledygook (SMOG), and quality ratings using a subset of questions adapted from the DISCERN‐Genetics questionnaire. Results The analysis included 44 unique reports from 26 laboratories comprising four groups: specialty laboratories (SL; N = 9), reference laboratories (RL; N = 12), hospital laboratories (HL; N = 10), and university‐based laboratories (UL; N = 13). There were 23 abnormal/pathogenic reports and 21 of uncertain/unknown significance. Nine laboratories did not include one or more pieces of information based on ACMG guidelines; only one of ten laboratories reported condition‐specific management/treatment information when available and relevant. Average quality ratings and readability scores were not significantly different between laboratory types or result classification. Conclusions Reporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well‐known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided.

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“…Sample report templates are also available in publications by Scheuner et al 106,107 SUPPLEMENTARY MATERIAL …”

Section: Sample Reportsmentioning

confidence: 99%

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Hegde

Ferber

Mao

et al. 2014

Genetics in Medicine

147

105

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Effective communication of molecular genetic test results to primary care providers

Cited by 30 publications

References 23 publications

Refining the structure and content of clinical genomic reports

Refining the structure and content of clinical genomic reports

A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

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