Laboratory Stewardship for Clinical Genetic Testing

Conta, Jessie H.

doi:10.1007/s40142-019-00175-6

Cited by 2 publications

(3 citation statements)

References 36 publications

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“…A genetic counselor, a genetic counseling assistant, and/or billing professional may all be required to provide adequate counseling, interpretation of results, clinic workflow management, and insurance prior authorizations. Incorporating a laboratory genetic counselor into the clinical setting can also reduce costs by ensuring proper test selection (Conta, 2019; Haidle et al, 2017). The salary of these professionals varies depending on location, years of experience, and work environment (National Society of Genetic Counselors, 2021).…”

Section: Implementation Of Recommendationsmentioning

confidence: 99%

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Smith

Malinowski²,

Ceulemans

et al. 2022

Journal of Genetic Counseling

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Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality. A majority of unexplained epilepsy (seizures not attributed to an acquired etiology, such as trauma or infection) is estimated to have an underlying genetic etiology. Despite rapid progress in understanding of the genetic underpinnings of the epilepsies, there are no recent evidence-based guidelines for genetic testing and counseling for this population. This practice guideline provides evidence-based recommendations for approaching genetic testing in the epilepsies using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Evidence to Decision framework. We used evidence from a recent systematic evidence review and meta-analysis of diagnostic yield of genetic tests in patients with epilepsy. We also compiled data from other sources, including recently submitted conference abstracts and peer-reviewed journal articles. We identified and prioritized outcomes of genetic testing as critical, important or not important and based our recommendations on outcomes deemed critical and important. We considered the desirable and undesirable effects, value and acceptability to relevant stakeholders, impact on health equity, cost-effectiveness, certainty of evidence, and feasibility of the interventions in individuals with epilepsy. Taken together, we generated two clinical recommendations: (1) Genetic testing is strongly recommended for all individuals with unexplained epilepsy, without limitation of age, with exome/genome sequencing and/or a multi-gene panel (>25 genes) as first-tier testing followed by chromosomal microarray, with exome/genome sequencing conditionally recommended over multi-gene panel. (2) It is strongly recommended that genetic tests be selected, ordered, and interpreted by a qualified healthcare provider in the setting of appropriate pre-test and post-test genetic counseling. Incorporation of genetic counselors into neurology practices and/or referral to genetics specialists are both useful models for supporting providers without genetics expertise to implement these recommendations.

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Section: Implementation Of Recommendationsmentioning

confidence: 99%

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Smith

Malinowski²,

Ceulemans

et al. 2022

Journal of Genetic Counseling

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“…Additionally, implementing processes which simplify result retrieval may improve result disclosure. These measures could include results being routed to the ordering provider, requiring a sign‐off from the ordering provider, encouraging patients to call if they have not received results (Casalino et al, 2009), or implementation of GCs in laboratory stewardship programs (Conta, 2019). Guidelines and practice resources also suggest including screenshots of results or list results in bullet form, including negative results, within notes, as genetic testing develops and can help guide future testing recommendations (Hunt Brendish et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Comparison of genetic testing documentation between genetic counselors and non‐genetic counselors

Feldman

Nagaraj

Collins

et al. 2023

Journal of Genetic Counseling

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Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequency of documentation of pre-and post-test counseling of genetic testing between GCs and genetics providers (GPs), and GCs and non-genetics providers (NGPs). A retrospective chart review of 467 charts from patients who had genetic testing ordered between July 2016 and June 2018 at a primarily pediatric institution was conducted. GCs were involved for 223 charts (GC group), and not involved for 244 (non-GC group). The non-GC group was further stratified into patient charts with Genetics Providers (GP group) (n = 100) involved and those with Non-Genetics Providers (NGP group) (n = 144) involved. Categorical, binomial, pre-test variables (counseling, test description, results possibilities, insurance coverage, and cost) and categorical, binomial, post-test variables (results disclosure, family testing recommendations, recurrence risk, and provided resources) were collected and compared using Fisher's exact test (p < 0.005). With the exception of test description, documentation for all variables occurred more frequently in the GC group compared to the NGP group (all p < 0.001). Documentation for the majority of variables also occurred more frequently in the GC group compared to the GP group (p < 0.005), with the exceptions of overall pre-test counseling and family testing recommendations. GC involvement was associated with increased documentation of most pre-and post-test genetic counseling variables. With increased emphasis placed on transparency, accurateness, and access for patients of the EMR, in part due to the passage of the CARES Act, documentation should reflect the content of counseling provided. The cause of the documentation discrepancy identified may have differing effects on patient care and provider education.

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Laboratory Stewardship for Clinical Genetic Testing

Cited by 2 publications

References 36 publications

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Comparison of genetic testing documentation between genetic counselors and non‐genetic counselors

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