scholarly journals Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer

ESMO Open ◽  
2020 ◽  
Vol 5 (2) ◽  
pp. e000619 ◽  
Author(s):  
Rhode Bijlsma ◽  
Roel Wouters ◽  
Hester Wessels ◽  
Stefan Sleijfer ◽  
Laurens Beerepoot ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Large Population ◽  
General Information ◽  
Structured Interviews ◽  
Substantial Impact ◽  
Patients With Cancer ◽  
Whole Exome ◽  
Unknown Significance ◽  
To Receive ◽  
Actionable Variants

BackgroundIn precision medicine, somatic and germline DNA sequencing are essential to make genome-guided treatment decisions in patients with cancer. However, it can also uncover unsolicited findings (UFs) in germline DNA that could have a substantial impact on the lives of patients and their relatives. It is therefore critical to understand the preferences of patients with cancer concerning UFs derived from whole-exome (WES) or whole-genome sequencing (WGS).MethodsIn a quantitative multicentre study, adult patients with cancer (any stage and origin of disease) were surveyed through a digital questionnaire based on previous semi-structured interviews. Background knowledge was provided by showing two videos, introducing basic concepts of genetics and general information about different categories of UFs (actionable, non-actionable, reproductive significance, unknown significance).ResultsIn total 1072 patients were included of whom 701 participants completed the whole questionnaire. Overall, 686 (85.1%) participants wanted to be informed about UFs in general. After introduction of four UFs categories, 113 participants (14.8%) changed their answer: 718 (94.2%) participants opted for actionable variants, 537 (72.4%) for non-actionable variants, 635 (87.0%) participants for UFs of reproductive significance and 521 (71.8%) for UFs of unknown significance. Men were more interested in receiving certain UFs than women: non-actionable: OR 3.32; 95% CI 2.05 to 5.37, reproductive significance: OR 1.97; 95% CI 1.05 to 3.67 and unknown significance: OR 2.00; 95% CI 1.25 to 3.21. In total, 244 (33%) participants conceded family members to have access to their UFs while still alive. 603 (82%) participants agreed to information being shared with relatives, after they would pass away.ConclusionOur study showed that the vast majority of patients with cancer desires to receive all UFs of genome testing, although a substantial minority does not wish to receive non-actionable findings. Incorporation of categories in informed consent procedures supports patients in making informed decisions on UFs.

Preferences to Receive Unsolicited Findings of Germline Genome Sequencing in a Large Population of Cancer Patients

2018 ◽  
Author(s):  
R.M. Bijlsma ◽  
R.H.P. Wouters ◽  
H. Wessels ◽  
S. Sleijfer ◽  
L.V. Beerepoot ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Genome Sequencing ◽  
Large Population ◽  
To Receive

scholarly journals “Do I want to know it all?” A qualitative study of glioma patients’ perspectives on receiving information about their diagnosis and prognosis

2020 ◽  
Author(s):  
Annika Malmström ◽  
Lisa Åkesson ◽  
Peter Milos ◽  
Munila Mudaisi ◽  
Helena Bruhn ◽  
...  
Keyword(s):  
Qualitative Content Analysis ◽  
General Information ◽  
Sensitive Information ◽  
Structured Interviews ◽  
Positive Information ◽  
Related Information ◽  
Diagnosis And Prognosis ◽  
Grade Ii ◽  
To Receive ◽  
Tailored Information

Abstract Purpose Glioma patients have poor prognosis. The amount of detail of disease-related information patients wish to receive is not known. The aim of this study was to explore glioma patients’ experiences and preferences regarding receiving information on diagnosis and prognosis. Methods Semi-structured interviews were performed with patients diagnosed with glioma. The interviews were analysed by qualitative content analysis without predefined categories by two independent coders. Results Ten women and 15 men, with newly diagnosed grade II–IV glioma, age 25–76 years, were interviewed. Participants’ experience on diagnosis communication was either indirect, meaning they found out their diagnosis unintentionally, e.g., from their electronic health record (EHR) instead of from their doctor, this causing anxiety and feelings of abandonment, insufficiently tailored: lacking in many aspects or individualised and compassionate. Participants generally wanted to know “the truth” about diagnosis and prognosis, but what they meant varied; some desired full honest information to allow for autonomous choices, others preferred general information without details, and some wanted no bad news at all, only positive information. Participants disclosed vulnerability after receiving their diagnosis, being cast into the unknown. They expressed a need for better everyday practical information to help create some control. Supportive staff could reduce participants’ distress. Conclusion There is a need to further develop and implement individually tailored information to glioma patients, both in consultations and patient-accessed EHR systems, which should have safe guards for sensitive information. Not all patients want to know it all, one size does not fit all.

Rationale for heparin treatment of colon cancer

2000 ◽  
Vol 20 (03) ◽  
pp. 136-142 ◽  
Author(s):  
D. L. Ornstein ◽  
L. R. Zacharski
Keyword(s):  
Clinical Trials ◽  
Substantial Improvement ◽  
Patients With Cancer ◽  
Coagulation Mechanism ◽  
Anticoagulant Drug ◽  
Cancer Outcome ◽  
Meta Analyses ◽  
Improvement In Survival ◽  
Spectrum Of Patients ◽  
To Receive

SummaryIt is widely known that the systemic blood coagulation mechanism is often activated in malignancy, leading to an increased incidence of vascular thromboses in patients with cancer. It is not widely appreciated, however, that products of the coagulation mechanism may also support tumor growth and dissemination. Interest in this approach to cancer therapy has surged recently because of mounting evidence that the familiar anticoagulant drug, heparin, may impede tumor progression. Heparin has the capacity to modify angiogenesis, growth factor and protease activity, immune function, cell proliferation and gene expression in ways that may block malignant dissemination. Clinical trials in which heparin has been administered to a broad spectrum of patients to prevent or treat thrombosis have unexpectedly shown improvement in survival in the subset of patients with malignancy entered to these studies. Meta-analyses of clinical trials comparing unfractionated (UF) versus low molecular weight (LMW) heparin treating venous thromboembolism suggest that there may be substantial improvement in cancer outcome in patients with malignancy randomized to receive LMW heparin. These findings provide a rationale for definitive clinical trials of LMW heparin in cancer, and the results of several such studies that are currently underway are awaited with interest.

scholarly journals PARE0023 ORAL HEALTH IN RHEUMATOID ARTHRITIS: LISTENING TO PATIENTS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1297.2-1297
Author(s):  
J. Protudjer ◽  
C. Billedeau ◽  
C. Stavropoulou ◽  
A. Cholakis ◽  
R. Schroth ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Oral Health ◽  
Periodontal Disease ◽  
Oral Care ◽  
Structured Interviews ◽  
Face To Face ◽  
Oral Health Education ◽  
To Receive ◽  
Latent Content

Background:Rates of periodontal disease and tooth loss are increased in rheumatoid arthritis (RA). Periodontal disease may exacerbate RA inflammation and complicate RA care. Understanding factors that contribute to the increased burden of periodontal disease in RA is critical to improving oral health and possibly arthritis outcomes. People with RA may have unique needs and/or barriers to maintain oral health.Objectives:To determine from people with RA what are their experiences and perceptions about their oral health, their most important questions relating to oral health, and how they wish to receive oral health information.Methods:Semi-structured interviews were conducted with RA patients. Recorded interview transcripts underwent iterative content analysis. Transcripts were initially reviewed to develop a coding guide. Latent content, or larger themes, were then applied to the transcripts. Constructs were considered saturated when no new themes were identified with subsequent interviews. We report identified themes with representative quotes.Results:Interviews with 11 RA (10[91%] female; all on RA medication) averaged 19 minutes (range 8-31 minutes) and were mostly conducted face-to-face. Many believed RA medication contributed to dry mouth. Most participants had not previously considered other links between oral health and RA. Themes identified included the need for complicated oral health routines, barriers of cost and access to dental care, and shame relating to oral health (Table 1). Participants preferred to receive oral health education from their rheumatologists or dentists over printed or online resources.Conclusion:RA patients have unique needs relating to oral health and report poor oral quality of life. Strategies to optimize oral health in RA may include educational tools for optimizing oral self-care appropriate for RA, and improved access to oral care professionals who are aware of the needs of arthritis patients.Disclosure of Interests:Jennifer Protudjer: None declared, Corrie Billedeau: None declared, Chrysi Stavropoulou: None declared, Anastasia Cholakis: None declared, Robert Schroth: None declared, Carol Hitchon Grant/research support from: UCB Canada; Pfizer Canada

scholarly journals Estimating sequencing error rates using families

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kelley Paskov ◽  
Jae-Yoon Jung ◽  
Brianna Chrisman ◽  
Nate T. Stockham ◽  
Peter Washington ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Genome Sequencing ◽  
Variant Calling ◽  
Error Rates ◽  
Sequencing Error ◽  
Whole Genome ◽  
Sequencing Data ◽  
Sequencing Platform ◽  
Whole Exome

Abstract Background As next-generation sequencing technologies make their way into the clinic, knowledge of their error rates is essential if they are to be used to guide patient care. However, sequencing platforms and variant-calling pipelines are continuously evolving, making it difficult to accurately quantify error rates for the particular combination of assay and software parameters used on each sample. Family data provide a unique opportunity for estimating sequencing error rates since it allows us to observe a fraction of sequencing errors as Mendelian errors in the family, which we can then use to produce genome-wide error estimates for each sample. Results We introduce a method that uses Mendelian errors in sequencing data to make highly granular per-sample estimates of precision and recall for any set of variant calls, regardless of sequencing platform or calling methodology. We validate the accuracy of our estimates using monozygotic twins, and we use a set of monozygotic quadruplets to show that our predictions closely match the consensus method. We demonstrate our method’s versatility by estimating sequencing error rates for whole genome sequencing, whole exome sequencing, and microarray datasets, and we highlight its sensitivity by quantifying performance increases between different versions of the GATK variant-calling pipeline. We then use our method to demonstrate that: 1) Sequencing error rates between samples in the same dataset can vary by over an order of magnitude. 2) Variant calling performance decreases substantially in low-complexity regions of the genome. 3) Variant calling performance in whole exome sequencing data decreases with distance from the nearest target region. 4) Variant calls from lymphoblastoid cell lines can be as accurate as those from whole blood. 5) Whole-genome sequencing can attain microarray-level precision and recall at disease-associated SNV sites. Conclusion Genotype datasets from families are powerful resources that can be used to make fine-grained estimates of sequencing error for any sequencing platform and variant-calling methodology.

scholarly journals Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yury A. Barbitoff ◽  
Dmitrii E. Polev ◽  
Andrey S. Glotov ◽  
Elena A. Serebryakova ◽  
Irina V. Shcherbakova ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Sequence Coverage ◽  
Coding Sequence ◽  
Whole Exome

scholarly journals Examining the association between childhood autistic traits and adolescent hypomania: a longitudinal twin study

2021 ◽  
pp. 1-10
Author(s):  
Mark J. Taylor ◽  
Angelica Ronald ◽  
Joanna Martin ◽  
Sebastian Lundström ◽  
Georgina M. Hosang ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Large Population ◽  
Autistic Traits ◽  
Evidence Base ◽  
Population Based ◽  
Autism Spectrum ◽  
Autistic Trait ◽  
Structured Interviews ◽  
Twin Design ◽  
Longitudinal Twin Study

Abstract Background There is evidence that autism spectrum disorders (ASDs) co-occur with bipolar disorder (BD) relatively frequently. Individuals with BD often report symptoms of mania and hypomania during adolescence, prior to the age of onset for BD. It is unknown whether these symptoms are associated with ASDs. We examined whether diagnoses of ASDs and autistic traits were associated with hypomania in a large, population-based Swedish twin sample. Methods Parental structured interviews assessed autistic traits, and were used to assign screening diagnoses of ASDs, when twins were aged 9 or 12 (N = 13 533 pairs). Parents then completed questionnaires assessing hypomania when the twins were aged 15 and 18 (N = 3852 pairs at age 15, and 3013 pairs at age 18). After investigating the phenotypic associations between these measures, we used the classical twin design to test whether genetic and environmental influences on autistic traits influence variation in adolescent hypomania. Results Autistic traits and ASD diagnoses in childhood were associated with elevated scores on the measures of adolescent hypomania. Twin analyses indicated that 6–9% of the variance in hypomania was explained by genetic influences that were shared with autistic traits in childhood. When repeating these analyses for specific autistic trait domains, we found a stronger association between social interaction difficulties and hypomania than for other autistic trait domains. Conclusions These results indicate a genetic link between autistic traits and hypomania in adolescence. This adds to the growing evidence base of genetic factors associated with ASDs showing links with psychiatric outcomes across childhood and into adulthood.

Opportunities for improving how and when Canadians are informed about new prescription medications

2020 ◽  
pp. 427-447
Keyword(s):  
Lived Experiences ◽  
Mobile Application ◽  
Future Research ◽  
Prescription Medications ◽  
Structured Interviews ◽  
Risks And Benefits ◽  
Medication Information ◽  
First Time ◽  
To Receive ◽  
Larger Sample

The Canadian prescription process requires a person to go through several steps. Prescription medications have associated risks and benefits and it is important for people to be aware of these before and while they are taking medications. One of the approaches to informing people about new prescription medications is that they are provided Consumer Medication Information (CMI). CMI is given to Canadians at the pharmacy when they pick up prescriptions, they will be taking for the first time. This study used semi-structured interviews to examine the lived experiences of a sample of Canadians (N = 36) to identify opportunities for improvement in how and when they are informed about new prescription medications. The findings were synthesized into a journey map. Generally, participants wanted to receive CMI digitally and earlier in the prescription process. Adopting these changes could have several benefits which include loss prevention and increased accessibility to CMI as well as more participatory decision making and opportunities to ask questions. Future research is warranted to explore similar topics with a larger sample and determine what method (e.g., email, website, mobile application) would be most suitable.

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