Understanding and interpretation of a variant of uncertain significance (VUS) genetic test result by pediatric providers who do not specialize in genetics

2021 ◽  
Author(s):  
Chelsea Menke ◽  
Chinmayee B. Nagaraj ◽  
Brian Dawson ◽  
Hua He ◽  
Sanjukta Tawde ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genetic Test Result ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Pediatric Providers ◽  
Test Result

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

2021 ◽  
pp. jmedgenet-2021-107738
Author(s):  
Chloe Mighton ◽  
Amanda C Smith ◽  
Justin Mayers ◽  
Robert Tomaszewski ◽  
Sherryl Taylor ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Test ◽  
Clinical Care ◽  
Molecular Genetic ◽  
Variant Interpretation ◽  
Collaborative Effort ◽  
Genetic Test Result ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Test Result

BackgroundThis study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpretation.MethodsLaboratories uploaded variant data to the Franklin Genoox platform. Reports were issued to each laboratory, summarising variants where conflicting classifications with another laboratory were noted. Laboratories could then reassess variants to resolve discordances. Discordance was calculated using a five-tier model (pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS), likely benign (LB), benign (B)), a three-tier model (LP/P are positive, VUS are inconclusive, LB/B are negative) and a two-tier model (LP/P are clinically actionable, VUS/LB/B are not). We compared the COGR classifications to automated classifications generated by Franklin.ResultsTwelve laboratories submitted classifications for 44 510 unique variants. 2419 variants (5.4%) were classified by two or more laboratories. From baseline to after reassessment, the number of discordant variants decreased from 833 (34.4% of variants reported by two or more laboratories) to 723 (29.9%) based on the five-tier model, 403 (16.7%) to 279 (11.5%) based on the three-tier model and 77 (3.2%) to 37 (1.5%) based on the two-tier model. Compared with the COGR classification, the automated Franklin classifications had 94.5% sensitivity and 96.6% specificity for identifying actionable (P or LP) variants.ConclusionsThe COGR provides a standardised mechanism for laboratories to identify discordant variant interpretations and reduce discordance in genetic test result delivery. Such quality assurance programmes are important as genetic testing is implemented more widely in clinical care.

Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

2021 ◽  
Author(s):  
Diane M Korngiebel ◽  
Kathleen McGlone West
Keyword(s):  
Patient Preferences ◽  
Genetic Test ◽  
Smartphone Application ◽  
Patient Portal ◽  
Genetic Test Result ◽  
Test Results ◽  
User Centered Design ◽  
Detailed Report ◽  
Genetic Test Results ◽  
Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

scholarly journals Randomized comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counseling

2007 ◽  
Vol 9 (8) ◽  
pp. 487-495 ◽  
Author(s):  
Jean Jenkins ◽  
Kathleen A Calzone ◽  
Eileen Dimond ◽  
David J Liewehr ◽  
Seth M Steinberg ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result

scholarly journals Impact of mismatch repair (MMR) genetic test result on perceived cancer risk and cancer screening

2010 ◽  
Vol 8 (Suppl 1) ◽  
pp. P6
Author(s):  
Monica Dandapani ◽  
Margery Rosenblatt ◽  
Anu Chittenden ◽  
Rowena Mercado ◽  
Judy E Garber ◽  
...  
Keyword(s):  
Cancer Screening ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result

Melanoma genetic testing to promote reductions in tanning: Results from the Utah BRIGHT project.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1582-1582
Author(s):  
Lisa Aspinwall ◽  
Tammy K. Stump ◽  
Jennifer M. Taber ◽  
Wendy Kohlmann ◽  
Marjan Champine ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Genetic Test ◽  
Disease Onset ◽  
Skin Type ◽  
Control Group ◽  
Genetic Test Result ◽  
Family Medical History ◽  
Management Recommendations ◽  
Test Result

1582 Background: Predictive genetic testing for familial cancer may alert people to highly elevated risk prior to disease onset. Genetic test reporting has been shown to improve uptake of prophylactic screening and procedures, but whether test reporting also promotes increased performance of primary preventive behavior is unknown. Methods: Unaffected adult participants ( N= 124) from high-risk melanoma families, ages 16-69 (mean = 35.24, 52% men) were enrolled. Participants from families that carried a CDKN2A/p16 mutation received a personal genetic test result and counseling about management recommendations whereas control participants from families without a CDKN2A/16 mutation received equivalent counseling and management recommendations based on family history alone. Photoprotection outcomes were compared between CDKN2A/p16 participants (31 carriers, 44 noncarriers) and the no-test control group ( n= 49), allowing the effects of receiving a genetic test result to be distinguished from the effects of counseling alone. Assessments were seasonally timed to capture tanning during the summer months. Melanin Index (MI) scores, measures of skin tanning obtained through reflectance spectroscopy, were assessed at the dorsal wrist and face. Tanning of the dorsal wrist and face were calculated by subtracting baseline MI scores at an unexposed site on the same individual. Results: Multilevel model analyses examined changes in tanning over time while controlling for clinician-rated skin type, age, gender, date of assessment, and group differences in phenotypic factors and family medical history. Participants who received positive test results were significantly less tan at the wrist one year after their previous summer baseline ( b= -.11, p< .001). No-test controls and noncarriers had no change in tanning. The magnitude of decrease in tanning measurements observed among CDKN2A/ p16 carriers approximated one skin type. Facial tanning did not differ from baseline for any group. Conclusions: A positive melanoma genetic test result promotes reduced UVR exposure. Future research should examine why positive genetic test reports were more motivating to patients than equivalent counseling based on family history.

Likelihood of Attending Bowel Screening after a Negative Genetic Test Result: The Possible Influence of Health Professionals

2002 ◽  
Vol 6 (4) ◽  
pp. 307-311 ◽  
Author(s):  
Susan Michie ◽  
Veronica Collins ◽  
Jane Halliday ◽  
Theresa M. Marteau
Keyword(s):  
Health Professionals ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Result
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