Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Lazaridis, Konstantinos N.; Schahl, Kimberly A.; Cousin, Margot A.; Babovic‐Vuksanovic, Dusica; Riegert–Johnson, Douglas L.; Gavrilova, Ralitza; McAllister, Tammy M.; Lindor, Noralane M.; Abraham, Roshini S.; Ackerman, Michael J.; Pichurin, Pavel N.; Deyle, David R.; Gavrilov, Dimitar; Hand, Jennifer L.; Klee, Eric W.; Stephens, Michael C.; Wick, Myra J.; Atkinson, Elizabeth J.; Linden, David R.; Ferber, Matthew J.; Wieben, Eric D.; Farrugia, Gianrico; Baudhuin, Linnea M.; Beck, Scott A.; Beek, Geoffrey; Go, Ronald S.; Guthrie, Kimberly J.; Hovan, Michael J.; Hunt, Katherine S.; Kemppainen, Jennifer L.; Kruisselbrink, Teresa M.; McCormick, Jennifer B.; McLaughlin, Brooke M.; Murphree, Marine I.; Niewold, Timothy B.; Oglesbee, Devin; Reed, Ann M.; Thibodeau, Stephen N.; Thorland, Erik C.

doi:10.1016/j.mayocp.2015.12.018

Cited by 85 publications

(74 citation statements)

References 23 publications

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“…Moreover, implementation of a combined complex test review and genetic consultation service (with a genetic counselor performing the initial review) within a clinical center has been shown to reduce the number of inappropriate tests, shorten time to diagnosis, and exert a positive influence on health care provider's behaviors (Suarez, Yu, Downs, Costa, & Stevenson, ). A multidisciplinary approach to triage patients for GWS similar to the Genomic Consultation Service has also been used elsewhere, although the impact of triage on the cost efficiency of GWS was not evaluated in those cases (Bowdin et al., ; Fokstuen et al., ; Lazaridis et al., ; Ormondroyd et al., ). The average presentation time per patient was 7 min.…”

Section: Discussionmentioning

confidence: 99%

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

Elliott

Souich

Adam

et al. 2018

Molec Gen & Gen Med

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BackgroundAccess to clinical diagnostic genome‐wide sequencing (GWS; exome or whole genome sequencing) is limited in British Columbia. The establishment of a translational research initiative (CAUSES) to provide diagnostic genome‐wide sequencing for 500 children necessitated the development of a genomic consultation service, a clinical service established to provide consultation for physicians considering GWS for their pediatric patients throughout British Columbia. The Genomic Consultation Service provides patient‐specific genomic advice that may include: GWS, multi‐gene panel, single gene test, referral to medical genetics for clinical evaluation, or no genetic testing. Here, we describe and evaluate this service.MethodsWe analyzed referral patterns, patient demographics, clinical indications, and genomic advice provided during the first year of this service. Comparison of outcomes from the first 6 months versus the last 6 months was performed.ResultsA total of 407 referrals (238 males and 169 females [p = .0006]) were processed in the first year. Only children were eligible for referral and average patient age was 8 years. Medical genetics was the most frequent referring discipline, followed by biochemical disease and pediatric neurology, respectively. Most patients (68%) had syndromic intellectual disability. There was a significant difference in the frequency of referrals not appropriate for GWS in the first versus the second 6 months of the service (75/220 vs. 42/187; p = .01) suggesting increasing awareness of testing criteria by referring physicians.ConclusionThis triage service is utilized throughout the province and appears to be an important factor in the high diagnostic rate (>40%) achieved in our GWS program.

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Section: Discussionmentioning

confidence: 99%

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

Elliott

Souich

Adam

et al. 2018

Molec Gen & Gen Med

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“…As new genetic testing technology is developed and increasingly implemented, PCPs' responsibilities for these patients and their families will continue to grow and proper patient care will depend on appropriate levels of genetic literacy and collaboration with genetics healthcare providers (GHP), clinical specialists who evaluate, diagnose, and provide information and recommendations regarding genetic conditions. The introduction of exome sequencing (ES) as a diagnostic test has provided diagnoses to many pediatric patients who had exhausted all other genetic test options (Biesecker & Biesecker, 2014;Iglesias et al, 2014;Lazaridis et al, 2016;Lee et al, 2014;Sawyer et al, 2016). With a diagnostic rate ranging from 20%-34%, compared to that of chromosomal microarray (CMA) at 12%-22%, the clinical usefulness and diagnostic value of ES in certain | 1131 pediatric populations is clear (Battaglia et al, 2013;Biesecker & Biesecker, 2014;Coulter et al, 2011;Henderson et al, 2014;Iglesias et al, 2014;Lazaridis et al, 2016;Lee et al, 2014;Miller et al, 2010;Sawyer et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Primary care physicians’ understanding and utilization of pediatric exome sequencing results

Mazzola

O’Connor

Yashar

2019

Journal of Genetic Counseling

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Optimizing exome sequencing (ES) utility requires effective communication and collaboration between primary care physicians (PCPs) and genetics healthcare providers (GHP). To explore how PCPs use ES results to coordinate multipart management plans for complex pediatric patients, we assessed result understanding and utilization. Twenty‐seven PCPs of pediatric patients with ES results from a genetics clinic completed a mixed methods 45‐question survey measuring perceived genetics knowledge, confidence performing genetics tasks, understanding of ES technology and results, and expectations of GHP. Quantitative and qualitative data analysis classified by ES result types generated descriptive statistics, Pearson correlation coefficients, and common themes. Forty‐five‐percent of PCPs interpreted variant of uncertain significance results as diagnostic (implementing management changes and recommending familial testing). Most PCPs (85%) identified positive ES results impacts, but only 65% indicated ES was beneficial to care. The majority (74%) expected GHP and patients’ families to assume follow‐up care responsibility and future ES results re‐interpretations. Limited knowledge may be a factor, as 59% desired more patient care information from GHP. Our results suggest optimizing continuity of care and collaboration for pediatric patients with ES results requires additional communication between GHP and PCPs, along with continuing genetics education for PCPs aimed at improving genetic literacy.

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“…We also discuss practice implications and questions that remain as WES continues to be more widely used in clinical care. (Lazaridis et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic

Bertsch

Agre

Ewing

et al. 2019

Journal of Genetic Counseling

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Whole exome sequencing (WES) has become a fundamental component of genetic evaluation and diagnosing rare genetic diseases. This test is now offered to patients from a wide variety of cultural backgrounds and in various clinical and research settings. This commentary is a reflection of one group of clinical genetic counselors’ experiences in facilitating WES for patients who come from outside the United States for genetic evaluation and pursue WES. This patient population in our clinic primarily consists of individuals from the Middle East and presents recurrent logistical and counseling challenges. We aim to describe our international patient population, illuminate the challenges we have faced and illustrate how we have addressed these challenges.

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Cited by 85 publications

References 23 publications

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

Primary care physicians’ understanding and utilization of pediatric exome sequencing results

Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic

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