scholarly journals Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies

2016 ◽  
Vol 37 (12) ◽  
pp. 1248-1256 ◽  
Author(s):  
Emilia Niemiec ◽  
Pascal Borry ◽  
Wim Pinxten ◽  
Heidi Carmen Howard
Keyword(s):  
Content Analysis ◽  
Genetic Testing ◽  
Informed Consent ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Direct To Consumer

scholarly journals Know your genes. The marketing of direct-to-consumer genetic testing

2011 ◽  
Vol 10 (03) ◽  
pp. C01
Author(s):  
Alessandro Delfanti
Keyword(s):  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Free Market ◽  
Public Communication ◽  
Genetic Mutations ◽  
Whole Genome ◽  
Life Choices ◽  
Private Companies ◽  
Direct To Consumer

Genetic testing promises to put the ability to decide about our life choices in our hands, as well as help solve crucial health problems by preventing the insurgence of diseases. But what happens when these exams are managed by private companies in a free market? Public communication and marketing have proven to be crucial battlefields on which companies companies need to engage in order to emerge. This issue of JCOM tries to shed some light on the communication and marketing practices used by private companies that sell direct-to-consumer genetic testing, from single genetic mutations to whole genome sequencing.

scholarly journals Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

2021 ◽  
Author(s):  
Michael Abbott ◽  
Lynda McKenzie ◽  
Blanca Viridiana Guizar Moran ◽  
Sebastian Heidenreich ◽  
Rodolfo Hernández ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Diseases ◽  
Genomic Medicine ◽  
Future Research ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Peace Of Mind

AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

scholarly journals Readability of informed consent forms for whole-exome and whole-genome sequencing

2017 ◽  
Vol 9 (2) ◽  
pp. 143-151 ◽  
Author(s):  
Emilia Niemiec ◽  
Danya F. Vears ◽  
Pascal Borry ◽  
Heidi Carmen Howard
Keyword(s):  
Informed Consent ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Consent Forms ◽  
Whole Exome

scholarly journals A Family with a Novel Mutation and Polycythemia Vera

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4875-4875
Author(s):  
Mayra C. Robinson ◽  
Majd T Ghanim ◽  
Shayla Bergmann
Keyword(s):  
Bone Marrow ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Polycythemia Vera ◽  
Genome Sequencing ◽  
Gene Mutations ◽  
Gene Sequencing ◽  
Janus Kinase ◽  
Whole Genome ◽  
Hematopoietic Stem

Abstract Background. Chronic myeloproliferative neoplasms are derived from myeloproliferation of a single hematopoietic stem cell and result in either erythrocythemia or thrombocytosis. Polycythemia Vera (PV) is defined by persistent proliferation of red cell mass in the peripheral blood and bone marrow with hemoglobin more than or equal to 16.5 gr/dL (49% Hematocrit) in males and 16 gr/dL (48% Hematocrit) in females. Around 98% of patients with PV harbor an acquired Janus Kinase 2 mutation, namely JAK2V617F. Other well described mutations in PV patients include the EPOR gene, Hypoxia-inducible factor 2 alpha (HIF2A) gene, PHD2 gene mutations and the rare Hemoglobin Tarrant. These mutations and other identified predisposing gene variants have all accounted for familial cases of PV. Presence of specific mutations can be associated with increased risk of myelodysplastic syndrome, progression of disease, and neoplasms which causes a decreased overall survival. Methods: We reviewed the charts and collected clinical information of 3 generations of one family with erythrocythemia, including PV diagnostic testing. Results: The proband, a 3-year-old female, presented to our clinic at 6 months of age with a hemoglobin of 16 gr/dL (upper limit of normal for age is 12.5 gr/dL). Family consisted of 3 generations of related females (maternal grandmother, mother and daughter) with the clinical characteristics of PV as described above, requiring frequent phlebotomy. Genetic testing, for known PV mutations, on the proband revealed no identifiable mutations, similar to the mother's and grandmother's prior genetic testing. The proband had no other laboratory abnormalities, and a bone marrow biopsy and aspirate examination was normal. Now 3 years of age, she has been undergoing phlebotomy every 3 months since diagnosis; further testing with exome gene sequencing showed c.136G>A mutation on EPO gene, a variant of unknown significance. Discussion. Literature review showed 2 previous reports of c.136G>A mutation in the EPO gene. In 2015, Taylor et al described the mutation in two families with erythrocytosis. Their project was aimed at evaluating whole-genome sequencing for diagnosis of families with high suspicion of a genetic component to their clinical presentation with no previously identified pathogenic variants. They concluded that c.136G>A is of autosomal dominant inheritance. Later described in 2016 by Camps et al., the variant was also found in 4 different non-related patients after whole genome sequencing. None of the previous citations demonstrated causality. Determination of predisposing gene mutations, using exome gene sequencing specifically for families with an unknown mutation may help clinicians with prognosis, genetic counseling, and possibly specific treatments. Although an interesting result, a causality between the variant identified and the patient in this report has not yet been verified. Therefore, more testing and reports of this mutation are needed. Further steps in our case will include whole exome sequencing of the proband's family members with idiopathic erythrocytosis to assess the presence of this variant in the whole family. Identification of a specific familial inherited gene mutation resulting in PV can help classify patients based on the mutation. This will help predict disease course, improve quality of life and determine risk of disease transformation. Disclosures No relevant conflicts of interest to declare.

Return of genetic testing results in the era of whole-genome sequencing

2015 ◽  
Vol 16 (9) ◽  
pp. 553-559 ◽  
Author(s):  
Bartha Maria Knoppers ◽  
Ma'n H. Zawati ◽  
Karine Sénécal
Keyword(s):  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome

scholarly journals Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

2018 ◽  
Vol 72 (4) ◽  
pp. 419-429 ◽  
Author(s):  
Richard D. Bagnall ◽  
Jodie Ingles ◽  
Marcel E. Dinger ◽  
Mark J. Cowley ◽  
Samantha Barratt Ross ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome
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