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A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone
Christensen KD, Uhlmann WR, Roberts JS, Linnenbringer E, Whitehouse PJ, Royal CDM, Obisesan TO, Cupples LA et al.. Genetics in medicine : official journal of the American College of Medical Genetics, 2017-07-20
Topic: Amyloid, tau and blood-test diagnosis
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.
Key findings
- 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).
- 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.
Why it matters
In this trial of 257 asymptomatic adults, disclosing Alzheimer's disease genetic risk by telephone was generally safe and occurred sooner than in-person disclosure, with anxiety and depression scores below clinical concern. It addresses how risk information is delivered and does not provide a treatment, cure, or prevention.
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Study details
- Participants257
- Evidence strengthHigh
How this study scored 69/100
Published in a peer-reviewed journal, and it is a randomised controlled trial. Scored zero for effect reported because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genetics in medicine : official journal of the American College of Medical Genetics) |
| Journal's citation record | 2 / 4 | Genetics in Medicine: journal h-index 204 (OpenAlex, 2026-10-29) |
| Study design | 11 / 12 | A randomised controlled trial (from PubMed type “Randomized Controlled Trial”) |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2018 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 257 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 1 / 2 | Randomised (as stated in the record) |
| Times cited | 4 / 7 | Cited 53 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.3 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 3 / 6 | Cited 3.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 2 / 4 | Cited 20 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Robert C. Green: h-index 117 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 14 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 28726810) |
| Free to read | 2 / 2 | Free to read |
| Total | 69 / 100 | — |
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Read the original
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APA 7th
Christensen, K. D., Uhlmann, W. R., Roberts, J. S., Linnenbringer, E., Whitehouse, P. J., Royal, C. D. M., et al. (2018). A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/gim.2017.103
Vancouver
Christensen KD, Uhlmann WR, Roberts JS, Linnenbringer E, Whitehouse PJ, Royal CDM, et al. A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genetics in medicine : official journal of the American College of Medical Genetics. 2018. doi:10.1038/gim.2017.103. PMID: 28726810.
BibTeX
@article{christensen2018-28726810,
author = {Christensen, K. D. and Uhlmann, W. R. and Roberts, J. S. and Linnenbringer, E. and Whitehouse, P. J. and Royal, C. D. M. and Obisesan, T. O. and Cupples, L. A. and others},
title = {{A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone}},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
year = {2018},
doi = {10.1038/gim.2017.103},
pmid = {28726810},
url = {https://doi.org/10.1038/gim.2017.103}
}
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