A Survey of UK Public Interest in Internet-Based Personal Genome Testing

Background:In view of the increasing availability of commercial internet-based Personal Genome Testing (PGT), this study aimed to explore the reasons why people would consider taking such a test and how they would use the genetic risk information provided. Methodology/Principal Findings: A self-completion questionnaire assessing public awareness and interest in PGT and motivational reasons for undergoing PGT was completed by 4,050 unselected adult volunteers from the UK-based TwinsUK register, aged 17 to 91 (response rate 62%). Only 13% of respondents were aware of the existence of PGT. After reading a brief summary about PGT, one in twenty participants (5%) were potentially interested at current prices (£250), however this proportion rose to half (50%) if the test was free of charge. Nearly all respondents who were interested in free PGT reported they would take the test to encourage them to adopt a healthier lifestyle if found to be at high genetic risk of a disease (93%). Around 4 in 5 respondents would have the test to convey genetic risk information to their children and a similar proportion felt that having a PGT would enable their doctor to monitor their health more closely. A TwinsUK research focus group also indicated that consumers would consult their GP to help interpret results of PGT. Conclusions/Significance: This hypothetical study suggests that increasing publicity and decreasing costs of PGT may lead to increased uptake, driven in part by the general public's desire to monitor and improve their health. Although the future extent of the clinical utility of PGT is currently unknown, it is crucial that consumers are well informed about the current limitations of PGT. Our results suggest that health professionals will inevitably be required to respond to individuals who have undergone PGT. This has implications for health service providers regarding both cost and time

Respondents characteristics.

<p>*µ = 56.4; range 17-91;</p><p># Total less than 4,050 due to missing responses.</p

Interest in Personal Genetic Screening.

<p>P, p-value from chi-square test for response differences between groups; bold  =  significant linear trend;</p><p>P*, p-value from spearman rank correlation of actual age/SES with response;</p><p>NS, not significant; % may not add up to 100 due to rounding.</p

Reasons to take a Personal Genetic Screen.

<p>(Base  =  very/fairly likely or undecided to order PG test if free);</p><p>P*, p-value from spearman rank correlation of actual age/SES with response;</p><p>P, p-value from chi-square test for response differences between groups; bold  =  significant linear trend;</p><p>NS, not significant; % may not add up to 100 due to rounding.</p

A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer’s disease

IntroductionConventional multisession genetic counseling is currently recommended when disclosing apolipoprotein E (APOE) genotype for the risk of Alzheimer’s disease (AD) in cognitively normal individuals. The objective of this study was to evaluate the safety of brief disclosure protocols for disclosing APOE genotype for the risk of AD.MethodsA randomized, multicenter noninferiority trial was conducted at four sites. Participants were asymptomatic adults having a firstâ degree relative with AD. A standard disclosure protocol by genetic counselors (SPâ GC) was compared with condensed protocols, with disclosures by genetic counselors (CPâ GC) and by physicians (CPâ MD). Preplanned coâ primary outcomes were anxiety and depression scales 12 months after disclosure.ResultsThree hundred and fortyâ three adults (mean age 58.3, range 33â 86 years, 71% female, 23% African American) were randomly assigned to the SPâ GC protocol (n = 115), CPâ GC protocol (n = 116), or CPâ MD protocol (n = 112). Mean postdisclosure scores on all outcomes were well below cutâ offs for clinical concern across protocols. Comparing CPâ GC with SPâ GC, the 97.5% upper confidence limits at 12 months after disclosure on coâ primary outcomes of anxiety and depression ranged from a difference of 1.2 to 2.0 in means (all P < .001 on noninferiority tests), establishing noninferiority for condensed protocols. Results were similar between European Americans and African Americans.ConclusionsThese data support the safety of condensed protocols for APOE disclosure for those free of severe anxiety or depression who are actively seeking such information.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152725/1/alzjjalz201410014.pd

A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease

IntroductionConventional multisession genetic counseling is currently recommended when disclosing apolipoprotein E (APOE) genotype for the risk of Alzheimer’s disease (AD) in cognitively normal individuals. The objective of this study was to evaluate the safety of brief disclosure protocols for disclosing APOE genotype for the risk of AD.MethodsA randomized, multicenter noninferiority trial was conducted at four sites. Participants were asymptomatic adults having a firstâ degree relative with AD. A standard disclosure protocol by genetic counselors (SPâ GC) was compared with condensed protocols, with disclosures by genetic counselors (CPâ GC) and by physicians (CPâ MD). Preplanned coâ primary outcomes were anxiety and depression scales 12 months after disclosure.ResultsThree hundred and fortyâ three adults (mean age 58.3, range 33â 86 years, 71% female, 23% African American) were randomly assigned to the SPâ GC protocol (n = 115), CPâ GC protocol (n = 116), or CPâ MD protocol (n = 112). Mean postdisclosure scores on all outcomes were well below cutâ offs for clinical concern across protocols. Comparing CPâ GC with SPâ GC, the 97.5% upper confidence limits at 12 months after disclosure on coâ primary outcomes of anxiety and depression ranged from a difference of 1.2 to 2.0 in means (all P < .001 on noninferiority tests), establishing noninferiority for condensed protocols. Results were similar between European Americans and African Americans.ConclusionsThese data support the safety of condensed protocols for APOE disclosure for those free of severe anxiety or depression who are actively seeking such information

An immune-based biomarker signature is associated with mortality in COVID-19 patients

Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contribute to disease severity of coronavirus disease 2019 (COVID-19). However, the utility of specific immune-based biomarkers to predict clinical outcome remains elusive. Here, we analyzed levels of 66 soluble biomarkers in 175 Italian patients with COVID-19 ranging from mild/moderate to critical severity and assessed type I IFN–, type II IFN–, and NF-κB–dependent whole-blood transcriptional signatures. A broad inflammatory signature was observed, implicating activation of various immune and nonhematopoietic cell subsets. Discordance between IFN-α2a protein and IFNA2 transcript levels in blood suggests that type I IFNs during COVID-19 may be primarily produced by tissue-resident cells. Multivariable analysis of patients’ first samples revealed 12 biomarkers (CCL2, IL-15, soluble ST2 [sST2], NGAL, sTNFRSF1A, ferritin, IL-6, S100A9, MMP-9, IL-2, sVEGFR1, IL-10) that when increased were independently associated with mortality. Multivariate analyses of longitudinal biomarker trajectories identified 8 of the aforementioned biomarkers (IL-15, IL-2, NGAL, CCL2, MMP-9, sTNFRSF1A, sST2, IL-10) and 2 additional biomarkers (lactoferrin, CXCL9) that were substantially associated with mortality when increased, while IL-1α was associated with mortality when decreased. Among these, sST2, sTNFRSF1A, IL-10, and IL-15 were consistently higher throughout the hospitalization in patients who died versus those who recovered, suggesting that these biomarkers may provide an early warning of eventual disease outcome

Twelve-month observational study of children with cancer in 41 countries during the COVID-19 pandemic

Childhood cancer is a leading cause of death. It is unclear whether the COVID-19 pandemic has impacted childhood cancer mortality. In this study, we aimed to establish all-cause mortality rates for childhood cancers during the COVID-19 pandemic and determine the factors associated with mortality