Dataset Information

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

ABSTRACT: PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone disclosure occurred 7.4 days sooner and was 30% shorter, on average, than in-person disclosure (both P < 0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% confidence intervals of mean differences were within noninferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Subanalyses supported noninferiority on all outcomes among apolipoprotein E (APOE) ɛ4-negative participants. Subanalyses were inconclusive for APOE ɛ4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern.ConclusionTelephone disclosure of APOE results and risk for Alzheimer disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.

SUBMITTER: Christensen KD

PROVIDER: S-EPMC5897910 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

Christensen Kurt D KD Uhlmann Wendy R WR Roberts J Scott JS Linnenbringer Erin E Whitehouse Peter J PJ Royal Charmaine D M CDM Obisesan Thomas O TO Cupples L Adrienne LA Butson Melissa B MB Fasaye Grace-Ann GA Hiraki Susan S Chen Clara A CA Siebert Uwe U Cook-Deegan Robert R Green Robert C RC

Genetics in medicine : official journal of the American College of Medical Genetics 20170720 1

PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone dis ...[more]

PMID: 28726810

Similar Datasets

Project description:BackgroundIncreasing use of genetic testing raises questions about disclosing secondary findings, including pleiotropic information.ObjectiveTo determine the safety and behavioral effect of disclosing modest associations between apolipoprotein E (APOE) genotype and coronary artery disease (CAD) risk during APOE-based genetic risk assessments for Alzheimer disease (AD).DesignRandomized, multicenter equivalence clinical trial. (ClinicalTrials.gov: NCT00462917).Setting4 teaching hospitals.Participants257 asymptomatic adults were enrolled, 69% of whom had 1 AD-affected first-degree relative.InterventionDisclosure of genetic risk information about AD and CAD (AD+CAD) or AD only (AD-only).MeasurementsPrimary outcomes were Beck Anxiety Inventory (BAI) and Center for Epidemiologic Studies Depression Scale (CES-D) scores at 12 months. Secondary outcomes were all measures at 6 weeks and 6 months and test-related distress and health behavior changes at 12 months.ResultsAt 12 months, mean BAI scores were 3.5 in both the AD-only and AD+CAD groups (difference, 0.0 [95% CI, -1.0 to 1.0]), and mean CES-D scores were 6.4 and 7.1 in the AD-only and AD+CAD groups, respectively (difference, 0.7 [CI, -1.0 to 2.4]). Both confidence bounds fell within the equivalence margin of ±5 points. Among carriers of the APOE ε4 allele, distress was lower in the AD+CAD groups (difference, -4.8 [CI, -8.6 to -1.0]) (P = 0.031 for the interaction between group and APOE genotype). Participants in the AD+CAD groups also reported more health behavior changes, regardless of APOE genotype.LimitationsOutcomes were self-reported by volunteers without severe anxiety, severe depression, or cognitive problems. Analyses omitted 33 randomly assigned participants.ConclusionDisclosure of pleiotropic information did not increase anxiety or depression and may have decreased distress among persons at increased risk for 2 conditions. Providing risk modification information about CAD improved health behaviors. Findings highlight the potential benefits of disclosure of secondary genetic findings when options exist for decreasing risk.Primary funding sourceNational Human Genome Research Institute.

Project description:BackgroundCaring for people with dementia at home requires considerable time, organization and commitment. Therefore, informal caregivers of people with dementia are often overburdened. This study examined the effects of the telephone-based Talking Time intervention, which is an approach used to strengthen the psychological health-related quality of life (HRQoL) and social support of informal caregivers of people with dementia living at home.MethodsThis study was a Medical Research Council framework phase two randomized controlled trial. The intervention consisted of a preliminary talk, information booklet, six structured telephone-based support group meetings and a structured written self-evaluation of each support group meeting. The control participants performed their usual individual self-organized care. After completing the data collection, the control group received the Talking Time intervention for fidelity reasons. The primary outcome was the self-rated psychological HRQoL of the informal caregivers, which was measured with the mental component summary of the General Health Survey Questionnaire Short Form 12 (SF-12).ResultsThirty-eight informal caregivers and their relatives were included and allocated to the intervention or control groups (n = 19 each). After 3 months, the Talking Time intervention group demonstrated an increase in the self-rated psychological HRQoL scores, whereas the scores decreased in the control group. However, the standardized effect size of 1.65 (95% Confidence Interval, - 0.44 - 3.75) was not significant. Additionally, the secondary outcomes demonstrated no significant results. The differences between the groups in most outcomes were in the expected direction. No adverse effects were identified due to the intervention.ConclusionsThe Talking Time intervention is feasible and shows nonsignificant promising results with regard to the self-rated psychological HRQoL. After further adjustment, the intervention needs to be evaluated in a full trial.Trial registrationClinical Trials: NCT02806583 , June 9, 2016 (retrospectively registered).

Project description:BackgroundMajor depressive disorder is one of the most prevalent and disabling forms of mental illness in the general population. One public health strategy that may reduce the disease burden is early identification and prevention - identifying people who are at high risk and intervening to prevent symptoms from progressing into a major depressive episode (MDE). Multivariable risk predictive algorithms (MVRP) have been developed to estimate personalized risk (probability) of an MDE. The purpose of this trial is to answer the questions: (1) Does disclosure of personalized depression risk information promote high-risk individuals to take preventive actions? (2) Will disclosure of personalized depression risk information negatively affect the mental health of those at high risk?MethodsWe are recruiting 350 high-risk men and 350 high-risk women across the country. Individuals are eligible, if they: (1) are 18 years or older, (2) have not had a depressive episode in the past two months, (3) are at high risk of MDE based on the MVRPs (predicted risk of 6.5% + for men and of 11.2% + for women), (4) can communicate in either English or French, and (5) agree to be contacted for follow-up interviews. The MVRPs were developed and validated using longitudinal data from over 10,000 Canadians across the country. Eligible participants are randomized into (1) the control group, and (2) the group receiving personalized depression risk information. The participants are assessed at baseline, 6 and 12 months regarding accuracy of risk perception, use of self-help strategies and changes in psychological distress and functioning. Qualitative interviews are conducted in sub-samples of the intervention groups to explore how the personalized information affects risk perception, self-help behaviors and mental health.DiscussionMVRPs can be used for risk stratification and planning preventive actions. The personalized risk information produced by MVRPs may also empower users to actively engage in self-management. This trial will contribute to the knowledge base about the potential health benefits and psychological harms associated with the provision of personalized depression risk information that will inform future implementation and patient-physician communication in the clinical settings.Trial registrationNCT02943876 . Date of trial registration: October 21st, 2016.

Project description:BACKGROUND:Studies have consistently indicated that the majority of individuals meeting the US Prevention Services Task Force guidelines for genetic testing have not had genetic counseling or testing. Despite increased availability and lower costs of multiplex cancer gene panels, there remains a gap in genetics services that has not been addressed by the current care delivery models. Lower cost of DNA sequencing with online patient-initiated ordering could increase test availability, but the ideal quantity and delivery method of patient education is not known. We hypothesized that online genetic education and testing with access to board certified genetic counselors could improve access to genetic testing while maintaining test quality and clinical utility. The MAGENTA (MAking GENetic Testing Accessible) trial is a nationwide randomized study designed to compare the effectiveness of online genetic education with pre- and post-test telephone genetic counseling to three potentially more accessible alternative approaches: online genetic education with optional telephone counseling, online genetic education with required pre-test telephone genetic counseling, and online genetic education with required post-test telephone genetic counseling. METHODS:3000 women nationwide will undergo genetic testing for 19 hereditary cancer genes. This is a randomized four-arm non-inferiority study with equal randomization. The four study arms were selected to independently assess the delivery of genetic information both before and after genetic testing (pre-test and post-test) by either requiring telephone genetic counseling or providing only online education with optional telephone counseling. Patients have post-test telephone counseling when testing positive for a pathogenic inherited mutation in all four arms. Surveys measuring psychological, behavioral and cognitive state are completed online at baseline, 3 months, 12 months and 24 months post-results disclosure. The primary study outcome is cancer-risk distress at 3 months post-result disclosure. DISCUSSION:This trial will assess the use of a genetic service model using online access and electronic education, while evaluating the need for personal pre- and post-test genetic counseling. Data from this study may lead to increased options for delivery of genetic testing and possibly increase access to genetic testing. Identifying more individuals with inherited cancer susceptibility will allow targeted cancer prevention. TRIAL REGISTRATION:Clinicaltrials.gov: NCT02993068 (registered December 14, 2016).

Project description:BackgroundProponents of consumer genetic tests claim that the information can positively impact health behaviors and aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not clear.MethodsA double-blinded, parallel group, 2:1 online randomized controlled trial was conducted to determine the short- and long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 20-35 years (n = 138). The intervention group (n = 92) received personalized DNA-based dietary advice for 12-months and the control group (n = 46) received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary advice.ResultsCompared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3-months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were advised to limit their sodium intake, significantly reduced their sodium intake (mg/day) compared to the control group (-287.3 ± 114.1 vs. 129.8 ± 118.2, p = 0.008). Those who had the non-risk version of ACE did not significantly change their sodium intake compared to the control group (12-months: -244.2 ± 150.2, p = 0.11). Among those with the risk version of the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to 34% after 12 months (p = 0.06).ConclusionsThese findings demonstrate that disclosing genetic information for personalized nutrition results in greater changes in intake for some dietary components compared to general population-based dietary advice.Trial registrationClinicalTrials.gov NCT01353014.

Project description:BackgroundInformed consent is an essential element of clinical research. Obtaining consent, however, may be challenging. The use of the telephone for giving information and obtaining consent may be practical but little formal research has been done.MethodsWe examined the use of the telephone for the purpose of informing expectant mothers about The Danish Calmette Study; a randomized clinical trial assessing neonatal Bacille Calmette-Guérin vaccination. Expectant mothers received an invitation letter with a Participant Information Sheet about The Danish Calmette Study, the present trial, and a Consent Form. Two to 4 weeks later we contacted the mothers to discuss potential participation in the present trial. At this initial telephone contact, and after consent from the mothers, we randomized expectant mothers to receive the verbal information about The Danish Calmette Study by telephone, or at a face-to-face consultation. The primary outcome was a communication score, consisting of comprehension of information about The Danish Calmette Study and satisfaction with the information process. The outcome was measured using a questionnaire 2 days after the information was provided, and 2.5 months after the birth of the child.ResultsThe communication score obtained 2 days after information was given was significantly reduced in the telephone group, effect size -0.74 (95% confidence interval (CI), -1.11 to -0.36). The effect sizes of the subscores were -0.87 (95% CI, -1.25 to -0.49) for satisfaction and -0.22 (95% CI, -0.58 to 0.14) for comprehension. The effect sizes were slightly reduced when assessed 2.5 months after the birth.ConclusionThe communication score was reduced in the telephone group. This was due to a reduction in satisfaction, while no difference in the comprehension could be found in comparison to the control group. This may be ethically acceptable as both groups had high satisfaction scores.Trial registrationClinicalTrials.gov, registered on 5 October 2015 with trial registration number NCT02570061 .

Project description:BackgroundIt has been suggested that family history information may be effective in motivating people to adopt health promoting behaviour. The aim was to determine if diabetic familial risk information by using a web-based tool leads to improved self-reported risk-reducing behaviour among individuals with a diabetic family history, without causing false reassurance among those without a family history.MethodsAn online sample of 1,174 healthy adults aged 35-65 years with a BMI ≥ 25 was randomized into two groups receiving an online diabetes risk assessment. Both arms received general tailored diabetes prevention information, whilst the intervention arm also received familial risk information after completing a detailed family history questionnaire. Separate analysis was performed for four groups (family history group: 286 control versus 288 intervention group; no family history: 269 control versus 266 intervention group). Primary outcomes were self-reported behavioural outcomes: fat intake, physical activity, and attitudes towards diabetes testing. Secondary outcomes were illness and risk perceptions.ResultsFor individuals at familial risk there was no overall intervention effect on risk-reducing behaviour after three months, except for a decrease in self-reported saturated fat intake among low-educated individuals (Beta (b) -1.01, 95% CI -2.01 to 0.00). Familial risk information resulted in a decrease of diabetes risk worries (b -0.21, -0.40 to -0.03). For individuals without family history no effect was found on risk-reducing behaviour and perceived risk. A detailed family history assessment resulted in a greater percentage of individuals reporting a familial risk for diabetes compared to a simple enquiry.ConclusionsWeb-based familial risk information reduced worry related to diabetes risk and decreased saturated fat intake of those at greatest need of preventative care. However, the intervention was not effective for the total study population on improving risk-reducing behaviour. The emphasis on familial risk does not seem to result in false reassurance among individuals without family history. Additionally, a detailed family history questionnaire identifies more individuals at familial risk than a simple enquiry.Trial registrationNTR1938.

Dataset Information

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

Publications

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets