Impact of patient education videos on genetic counseling outcomes after exome sequencing

2020 ◽  
Vol 103 (1) ◽  
pp. 127-135 ◽  
Author(s):  
Rebecca Hernan ◽  
Megan T. Cho ◽  
Ashley L. Wilson ◽  
Priyanka Ahimaz ◽  
Catherine Au ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Patient Education ◽  
Exome Sequencing ◽  
Counseling Outcomes

scholarly journals Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results

2019 ◽  
Vol 28 (2) ◽  
pp. 182-193 ◽  
Author(s):  
Margret Matias ◽  
Katie Wusik ◽  
Derek Neilson ◽  
Xue Zhang ◽  
C. Alexander Valencia ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Medical Management ◽  
Negative Results ◽  
Whole Exome

scholarly journals Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report

2014 ◽  
Vol 23 (5) ◽  
pp. 742-753 ◽  
Author(s):  
Saskia van den Berg ◽  
Yaoqing Shen ◽  
Steven J. M. Jones ◽  
William T. Gibson
Keyword(s):  
Genetic Counseling ◽  
Case Report ◽  
Exome Sequencing ◽  
Direct To Consumer

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

2015 ◽  
Vol 35 (10) ◽  
pp. 1022-1029 ◽  
Author(s):  
Lauren E. Westerfield ◽  
Samantha R. Stover ◽  
Veena S. Mathur ◽  
Salma A. Nassef ◽  
Tiffiney G. Carter ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Exome Sequencing ◽  
Genetic Counseling Practice ◽  
Counseling Practice

Genetic Counseling Outcomes: Perceived Risk and Distress After Counseling for Hereditary Colorectal Cancer

2005 ◽  
Vol 14 (2) ◽  
pp. 119-132 ◽  
Author(s):  
Ann-Marie Codori ◽  
Tracy Waldeck ◽  
Gloria M. Petersen ◽  
Diana Miglioretti ◽  
Jill D. Trimbath ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Counseling ◽  
Perceived Risk ◽  
Hereditary Colorectal Cancer ◽  
Counseling Outcomes

A Delphi study to prioritize genetic counseling outcomes: What matters most

2020 ◽  
Author(s):  
Krista Redlinger‐Grosse ◽  
Ian M. MacFarlane ◽  
Deborah Cragun ◽  
Heather Zierhut
Keyword(s):  
Genetic Counseling ◽  
Delphi Study ◽  
Counseling Outcomes ◽  
What Matters

Improving the referral rate of universal genetic counseling for pancreatic ductal adenocarcinoma (PDAC) at the Cleveland Clinic Taussig Cancer Center: A quality improvement project.

2020 ◽  
Vol 38 (29_suppl) ◽  
pp. 196-196
Author(s):  
Kanika G. Nair ◽  
Brandie Leach ◽  
Selina Sledge ◽  
Megan Kilbane ◽  
Jennifer Bates ◽  
...  
Keyword(s):  
Quality Improvement ◽  
Genetic Counseling ◽  
Patient Education ◽  
Germline Mutations ◽  
Referral Rate ◽  
Quality Improvement Project ◽  
Tumor Board ◽  
Improvement Project ◽  
Referral Rates ◽  
Germline Testing

196 Background: While most PDAC are sporadic, up to 10% are inherited. In 2018, ASCO and NCCN guidelines were updated to recommend that all patients with PDAC be considered for genetic counseling (GC) and germline testing. Furthermore, interest in treating patients with targeted therapy, such as olaparib, for germline mutations is increasing. We implemented a quality improvement project to identify the referral rate to GC for patients with PDAC, with the goal of improving the referral rate to 60%. Methods: Barriers to GC referral were identified using quality improvement tools developed at the ASCO Quality Training Program. Three “plan, do, study, act” (PDSA) cycles were implemented: 1) updating the electronic order and tumor board template to include GC recommendation (Aug–Oct 2019), 2) physician education (Nov–Dec 2019) and 3) patient education and physician reinforcement (Jan–Feb 2020). Baseline data to evaluate impact of PDSA intervention (from April to June 2019) on documented discussions about GC and placement of the referral order was completed via chart review. Results: Between April 2019 to January 2020, 199 patients with PDAC were seen in medical oncology clinic as new patient visits. Thirteen patients had previously completed GC. For the remainder, baseline discussion and referral rates were 25% and 9%, respectively. Discussion and referral rates improved to 55% and 30% after PDSA 1, to 73% and 33% after PDSA 2, and to 95% and 58% after PDSA 3, respectively. Forty-nine patients were referred at the first visit and 23 were referred at a subsequent visit. Forty-six patients underwent GC. In patients who completed germline testing 8.9% (4/45) were found to have a pathogenic variant in BRCA2, TP53, ATM, and MUTYH. Conclusions: With increased physician and patient education, we were able to improve the GC discussion rate from 25% to 95% and referral rate from 9% to 58%. While we did not meet our aim of 60% GC referral rate, we identified obstacles and outlined an improved process for early GC referrals. Enacting processes to reinforce GC referrals for patients with PDAC is likely to increase detection of germline mutations in this population.

Whole Exome Sequencing Identifies Novel Lyst-Missense Mutations In Incomplete Childhood Chediak-Higashi-Syndrome Presenting As Hemphagocytic Lymphohistiocytosis (HLH)

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 3479-3479
Author(s):  
Joachim Kunz ◽  
Tobias Rausch ◽  
Obul R Bandapalli ◽  
Adrian M Stuetz ◽  
Johann Greil ◽  
...  
Keyword(s):  
Stem Cell ◽  
Genetic Counseling ◽  
Stem Cell Transplantation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Missense Mutations ◽  
Heterozygous Genotype ◽  
Whole Exome ◽  
Genomic Analyses ◽  
Chediak Higashi Syndrome

Abstract Chediak Higashi Syndrome (CHS) is caused by defective membrane targeting of components of the lysosome, which results from inactivation of the lysosomal trafficking regulator LYST. Clinically, CHS is typically characterized by partial albinism, susceptibility to infection, lymphoproliferation with acceleration to HLH. The immunodeficiency can be cured by allogeneic stem cell transplantation (HSCT), but transplanted patients can develop picture resembling spinocerebellar degeneration in early adult life. Depending on the type of mutation, CHS can vary from a most severe childhood form with null-mutations to milder adult onset forms with hypomorphic mutations. We report on a previously healthy boy, who presented at the age of 3 years with life threatening features of HLH but no clinical features of CHS. The patient was treated with HSCT from an unrelated HLA-identical stem cell donor 4 years ago and is developing normally since. Analysis of HLH candidate genes did not result in the identification of the genetic cause at that time. At the time of the next pregnancy whole exome sequencing of DNA that had been obtained before HSCT was performed to enable specific genetic counseling. The Agilent SureSelect Target Enrichment Kit was used and the captured fragments were sequenced as 100 bp paired reads using an Illumina HiSeq2000 sequencing instrument. All sequenced DNA reads were preprocessed using Trimmomatic (Lohse et al. 2012) to clip adapter contaminations and to trim reads for low quality bases. The remaining reads greater than 36bp were mapped to build hg19 of the human reference genome with Stampy (Lunter & Goodson, 2011), using default parameters. Following such preprocessing, the number of mapped reads was >95% for all samples. Single-nucleotide variants (SNVs) were called using SAMtools mpileup (Li et al. 2009). The number of exonic SNVs varied between 23,741 and 31,418 per sample. To facilitate a fast classification and identification of candidate driver mutations, all identified coding SNVs were comprehensively annotated using the ANNOVAR framework (Wang et al., Nat. Rev. Genet., 2010). To identify possible pathogenic mutations, candidate SNVs were filtered for nonsynonymous, stopgain or stoploss SNVs, requiring an SNV quality greater or equal to 100, and requiring absence of segmental duplications. Only SNVs that were not contained in dbSNP were considered for further analysis. No homozygous and 122 heterozygous SNVs meeting those requirements were identified. Only one gene, LYST, was affected by two different SNVs and was selected for further analysis because of its known relationship to HLH. Sanger sequencing confirmed the compound heterozygous genotype for the two novel LYST missense mutations Q3057K and R3785H in the patient and the heterozygous genotype for one of these mutations in the parents. We then specifically searched for typical features of CHS in the pre-HSCT diagnostic material. The typical large lysosomal granules in blood cells could not be identified. By contrast, light microscopy of the patient’s hair showed a silvery aspect and chunky dyspigmentation in the medulla. Little granular melanin was detected in the hair cortex. Electron microscopy revealed an uneven distribution of pigment and giant melanosomes in some keratinocytes, compatible with a partial albinism. We thus conclude that this patient suffers from an incomplete albeit immunologically most severe Chediak-Higashi syndrome, which led to an early accelerated phase resembling primary HLH. This report highlights the diagnostic power of whole exome sequencing, which enables an unbiased mutation analysis and the identification of unexpected causes of genetic diseases with atypical phenotypes. At the same time, this case also highlights some of the ethical challenges associated with diagnostic genomic analyses: While a specific and clinically validated diagnosis enabled specific genetic counseling, the family now has to face the unexpected uncertainty about the neurologic prognosis of incomplete Chediak-Higashi-syndrome, which may possibly progress into untreatable neurodegeneration during early adulthood despite successful allogeneic stem cell transplantation. Apart from adding to the knowledge of the genetic and phenotypic complexity of CHS, this patient also underlines the necessity of careful counseling before diagnostic genomic analyses are offered to patients and their families. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Elucidating Genetic Counseling Outcomes from the Perspective of Genetic Counselors

2016 ◽  
Vol 25 (5) ◽  
pp. 993-1001 ◽  
Author(s):  
Heather A. Zierhut ◽  
K. M. Shannon ◽  
D. L. Cragun ◽  
S. A. Cohen
Keyword(s):  
Genetic Counseling ◽  
Genetic Counselors ◽  
Counseling Outcomes

Genetic Counseling Outcomes Validation by Genetics Nurses in the UK and US

2001 ◽  
Vol 33 (4) ◽  
pp. 369-374 ◽  
Author(s):  
Janet K. Williams ◽  
Heather Skirton ◽  
David Reed ◽  
Marion Johnson ◽  
Meridean Maas ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
The Uk ◽  
Counseling Outcomes
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