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Genet Med. 2018 Jan;20(1):132-141. doi: 10.1038/gim.2017.103. Epub 2017 Jul 20.

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

Author information

1
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
2
Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
3
Departments of Internal Medicine and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
4
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
5
Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
6
Department of Neurology, Case Western Reserve University/University Hospitals, Cleveland, Ohio, USA.
7
Department of African and African American Studies, Duke University, Durham, North Carolina, USA.
8
Department of Medicine, Howard University College of Medicine, Washington, DC, USA.
9
Departments of Biostatistics and Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA.
10
National Cancer Institute, Bethesda, Maryland, USA.
11
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA.
12
UMIT-University for Health Sciences, Medical Informatics and Technology, Hall i.T., Austria.
13
Harvard School of Public Health and Massachusetts General Hospital, Boston, Massachusetts, USA.
14
School for the Future of Innovation in Society and Consortium for Science, Policy & Outcomes, Arizona State University, Washington, DC, USA.
15
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
16
Partners Personalized Medicine, Boston, Massachusetts, USA.

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.

PMID:
28726810
PMCID:
PMC5897910
DOI:
10.1038/gim.2017.103
[Indexed for MEDLINE]
Free PMC Article

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