Genetic testing utilization and the role of the laboratory genetic counselor

Kotzer, Katrina E.; Riley, Jacquelyn D.; Conta, Jessie H.; Anderson, Claire; Schahl, Kimberly A.; Goodenberger, McKinsey L.

doi:10.1016/j.cca.2013.09.033

Cited by 33 publications

(28 citation statements)

References 7 publications

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“…In addition, the parents of critically ill children are often facing significant psychosocial stressors that GCs are trained to address. Lab GCs embedded within institutional stewardship programs are especially well‐suited to ensure coordination of appropriate and valuable genomic testing for patients (Conta, Hess, & Riley, ; Kotzer et al, ). While literature is limited, the value of GCs involved in pediatric rapid exome sequencing (rES) testing has been described (Stark et al, ).…”

Section: Introductionmentioning

confidence: 99%

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Candadai

Sikes

Thies

et al. 2019

Journal of Genetic Counseling

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Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers failing to retrieve and act upon results, as many patients are discharged before results return. The development of rapid turn‐around‐times (TATs) for genomic testing has begun to shift this paradigm. Rapid exome sequencing (rES) is increasingly being used as a diagnostic tool for critically ill infants with likely genetic disease and presents significant challenges to execute. We implemented a program, entitled the Rapid Inpatient Genomic Testing (RIGhT) project, to identify critically ill children for whom a molecular diagnosis is likely to change inpatient management. Two important goals of the RIGhT project were to provide appropriate genetic counseling, and to develop protocols to ensure efficient test coordination‐ both of which relied heavily on laboratory and clinic‐based genetic counselors (GCs). Here, rES was performed on 27 inpatient trios from October 2016 to August 2018; laboratory and clinical GCs encountered significant challenges in the coordination of this testing. The GCs involved retrospectively reviewed these cases and identified three common challenges encountered during pretest counseling and coordination. The aim of this paper is to define these challenges using illustrative case examples that highlight the importance of including GCs to support rES programs.

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Section: Introductionmentioning

confidence: 99%

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Candadai

Sikes

Thies

et al. 2019

Journal of Genetic Counseling

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“…Genetic counselors are increasingly employed by testing laboratories as part of utilization management efforts because approximately 10-25 % of all molecular genetic tests are ordered in error, are unnecessary, or could be replaced by a more appropriate test order (Dickerson et al 2014;Kotzer et al 2014;Miller et al 2014). This case illustrates the ethical dilemma that laboratory genetic counselors encounter in their practice of optimizing genetic test utilization.…”

Section: Summary/discussionmentioning

confidence: 99%

“…Genetic counselors are employed within laboratories to manage test utilization, having demonstrated cost benefit and a reduction in unnecessary testing (Dickerson et al 2014;Kotzer et al 2014;Miller et al 2014). Thus, there is precedent for cancelling a test after determining an error was made or to recommend a more appropriate, cost-effective testing approach.…”

Section: Determining Courses Of Actionmentioning

confidence: 98%

“…Two recent studies of genetic test utilization at independent genetic testing laboratories found that 8 % of all genetic test orders and over 25 % of complex molecular test requests, respectively, were misordered (Kotzer et al 2014;Miller et al 2014). Formal utilization management programs, including pre-analytic review of genetic test orders by Post-reporting Variant reanalysis, reclassification, and duty to re-contact laboratory genetic counselors, result in a reduction of incorrect orders, improved patient care, and cost savings for the health care system (Dickerson et al 2014;Kotzer et al 2014;Miller et al 2014). Results of these studies indicate that many misorders can be canceled or changed to a more appropriate test in a relatively straightforward manner.…”

Section: Appropriateness Of Testingmentioning

confidence: 99%

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The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

Balcom¹,

Kotzer²,

Waltman³

et al. 2016

Journal of Genetic Counseling

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Ethical dilemmas are encountered commonly in the setting of the clinical genetic testing laboratory due to the complexity of genetic testing and the number of relevant stakeholders involved in the genetic testing process. Based on their clinical training and role within the laboratory, genetic counselors are uniquely equipped to identify and facilitate management of ethical dilemmas. This paper reviews the historical context of ethical theory and its application to the field of genetic counseling. Theoretical and applied ethics are explored in the context of dilemmas arising in the laboratory setting, with a focus on the role of the laboratory genetic counselor in managing ethical dilemmas. Two illustrative case examples are provided.

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“…As genomics enters mainstream clinical practice, physicians without specialized training in genetics/genomics potentially face uncertainty in ordering and interpreting genomic testing [9–13] and therefore leading to both under- and overutilization of genomics-based diagnostic tests. A number of studies have shown that genetic counselor screening of molecular genetic testing orders led to revision of a remarkable 8–26% of orders [14,15]. In many cases, the tests were cancelled due to inappropriate ordering caused by a lack of physician comprehension of genetic testing.…”

Section: The Genomic Medicine Eramentioning

confidence: 99%

The Undergraduate Training in Genomics (UTRIG) Initiative: Early & Active Training for Physicians in the Genomic Medicine Era

et al. 2018

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Genomic medicine is transforming patient care. However, the speed of development has left a knowledge gap between discovery and effective implementation into clinical practice. Since 2010, the Training Residents in Genomics (TRIG) Working Group has found success in building a rigorous genomics curriculum with implementation tools aimed at pathology residents in postgraduate training years 1–4. Based on the TRIG model, the interprofessional Undergraduate Training in Genomics (UTRIG) Working Group was formed. Under the aegis of the Undergraduate Medical Educators Section of the Association of Pathology Chairs and representation from nine additional professional societies, UTRIG’s collaborative goal is building medical student genomic literacy through development of a ready-to-use genomics curriculum. Key elements to the UTRIG curriculum are expert consensus-driven objectives, active learning methods, rigorous assessment and integration.

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Genetic testing utilization and the role of the laboratory genetic counselor

Cited by 33 publications

References 7 publications

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

The Undergraduate Training in Genomics (UTRIG) Initiative: Early & Active Training for Physicians in the Genomic Medicine Era

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