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. 2021 Apr 29;13(1):71.
doi: 10.1186/s13073-021-00887-x.

Application of a framework to guide genetic testing communication across clinical indications

Miranda L G Hallquist  1 , Eric P Tricou  2   3 , Kelly E Ormond  3 , Juliann M Savatt  2 , Curtis R Coughlin 2nd  4 , W Andrew Faucett  2 , Laura Hercher  5 , Howard P Levy  6 , Julianne M O'Daniel  7 , Holly L Peay  8 , Melissa Stosic  9 , Maureen Smith  10 , Wendy R Uhlmann  11 , Hannah Wand  3 , Karen E Wain  2 , Adam H Buchanan  2
Affiliations

Application of a framework to guide genetic testing communication across clinical indications

Miranda L G Hallquist et al. Genome Med. .

Abstract

Background: Genetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. We report on the application and clinical implications of a framework to consistently integrate genetics expertise where it is most useful to patients.

Methods: The Clinical Genome Resource's (ClinGen) Consent and Disclosure Recommendations (CADRe) workgroup designed rubrics to guide pre- and post-genetic test communication. Using a standard set of testing indications, pre- and post-test rubrics were applied to 40 genetic conditions or testing modalities with diverse features, including variability in levels of penetrance, clinical actionability, and evidence supporting a gene-disease relationship. Final communication recommendations were reached by group consensus.

Results: Communication recommendations were determined for 478 unique condition-indication or testing-indication pairs. For half of the conditions and indications (238/478), targeted discussions (moderate communication depth) were the recommended starting communication level for pre- and post-test conversations. Traditional GC was recommended pre-test for adult-onset neurodegenerative conditions for individuals with no personal history and post-test for most conditions when genetic testing revealed a molecular diagnosis as these situations are likely higher in complexity and uncertainty. A brief communication approach was recommended for more straightforward conditions and indications (e.g., familial hypercholesterolemia; familial variant testing).

Conclusions: The CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach. Shorter targeted discussions or brief communications are suggested for many tests and indications. Longer traditional GC consultations would be reserved for patients with more complex and uncertain situations where detailed information, education, and psychological support can be most beneficial. Future studies of the CADRe communication framework will be essential for determining if CADRe-informed care supports quality patient experience while improving access to genetic information across healthcare.

Keywords: Access; Genetic counseling; Genetic testing; Informed consent; Results disclosure; Service delivery.

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Conflict of interest statement

• AHB has received compensation as a section editor for the Journal of Genetic Counseling and holds an equity stake in MeTree and You, Inc.

• WRU receives book royalties from Wiley-Blackwell.

• M. Stosic is an employee of DotLab.

• The remaining authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
CADRe communication levels
Fig. 2
Fig. 2
CADRe communication rubrics. a Pre-test discussion rubric. b Post-test discussion rubric. P/LP, pathogenic/likely pathogenic results that are indicative of a molecular diagnosis and/or risk; B/LB, benign/likely benign; VUS/GUS, variant of uncertain significance/gene of uncertain significance
Fig. 3
Fig. 3
CADRe pre- and post-test rubric classifications by indication. Each bin represents the classifications for a communication recommendation (horizontal axis) and indication (vertical axis) and contains the circles of individual curations for a gene, condition, or testing modality. Standard indications classified were as follows: (1) confirmatory testing: individual with a clinical diagnosis of a genetic condition where genetic testing was expected to be confirmatory; (2) suggestive personal history: individual with a personal history suggestive of a genetic condition; (3) suggestive family history: unaffected individual with a suggestive family history in which the proband was not known to have undergone genetic testing; and (4) familial variant: unaffected individual with a known P/LP variant in a family member (e.g., predictive or cascade testing). Condition-specific indications were added or removed as applicable. ADD, autosomal dominant dementia; ALS, amyotrophic lateral sclerosis; ApoE, ApoE genotyping; c9orf, c9orf mediated FTD/ALS; ES, exome sequencing; Fabry M, Fabry testing in individual with male sex due to a chromosomal complement of XY, XYY, or other that causes risk for Fabry; FH, familial hypercholesterolemia; FTD, frontotemporal dementia; HD, Huntington Disease; LE HCM, limited evidence hypertrophic cardiomyopathy; MAP, MUTYH-associated polyposis; MHS, malignant hyperthermia susceptibility; ME HCM, moderate evidence hypertrophic cardiomyopathy
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