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Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results
Seiffert DJ, McCarthy Veach P, LeRoy B, Guan W, Zierhut H.. Journal of genetic counseling, 2019-02-02
Topic: Risk, prevention and care in population studies
Rationales for returning results from whole genome sequencing (WGS) and genetic testing have historically focused on medical utility. Understanding the wide array of actions individuals might take following genetic testing results could have important implications for clinical care. We aimed to survey the public regarding their perceptions of the importance of a wide variety of different actions one might take upon receiving hypothetical results from a WGS test where the results indicate a high risk of developing a genetic condition. We assessed whether demographic characteristics, type of condition, and perceived severity of the condition differentially affected importance ratings of actions they would take. In a survey administered at the 2015 Minnesota State Fair, 909 participants imagined that they had a blood test that looked at their genes and indicated that they were at high risk of developing one of three randomized conditions (Alzheimer's disease, macular degeneration, or colon cancer). Participants rated the importance of 35 actions. Principal component analysis, used to categorize actions, yielded eight categories: (1) medical management and communication; (2) partner support; (3) support and life fulfillment; (4) diet and exercise; (5) distal planning; (6) religion/spiritual support; (7) reproductive actions; and (8) proximal planning. Participants rated a wide range of actions as important, with medical management and communication, and partner support receiving the highest mean ratings. Linear regression yielded significant associations between importance ratings and demographics variables (age and gender), genetic condition, and perceived severity of the condition for different action categories. Genetic counselors and other healthcare professionals should consider a variety of possible patient actions beyond medical actionability when discussing genetic testing results.
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APA 7th
Seiffert, D. J., McCarthy Veach, P., LeRoy, B., Guan, W., & Zierhut, H. (2019). Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results. Journal of genetic counseling. https://doi.org/10.1002/jgc4.1048
Vancouver
Seiffert DJ, McCarthy Veach P, LeRoy B, Guan W, Zierhut H. Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results. Journal of genetic counseling. 2019. doi:10.1002/jgc4.1048. PMID: 30710467.
BibTeX
@article{seiffert2019-30710467,
author = {Seiffert, D. J. and McCarthy Veach, P. and LeRoy, B. and Guan, W. and Zierhut, H.},
title = {{Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results}},
journal = {Journal of genetic counseling},
year = {2019},
doi = {10.1002/jgc4.1048},
pmid = {30710467},
url = {https://doi.org/10.1002/jgc4.1048}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- Rationales for returning results from whole genome sequencing (WGS) and genetic testing have historically focused on medical utility.
- Understanding the wide array of actions individuals might take following genetic testing results could have important implications for clinical care.
- We aimed to survey the public regarding their perceptions of the importance of a wide variety of different actions one might take upon receiving hypothetical results from a WGS test where the results indicate a high risk of developing a genetic condition.
- In a survey administered at the 2015 Minnesota State Fair, 909 participants imagined that they had a blood test that looked at their genes and indicated that they were at high risk of developing one of three randomized conditions (Alzheimer's disease, macular degeneration, or colon cancer).
- Linear regression yielded significant associations between importance ratings and demographics variables (age and gender), genetic condition, and perceived severity of the condition for different action categories.
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Study details
- Participants909
- Evidence strengthHigh
How this study scored 53/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 31 of the 58 points we could judge it on, which is 53 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of genetic counseling) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| 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 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 2 / 4 | 909 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 | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30710467) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 31 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 31 of the 58 points we could judge it on is 53 out of 100. |
| Total | 53 / 100 | — |
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