Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
Tianyuan Lu, Vincenzo Forgetta, John Brent Richards, Celia M T Greenwood. Genetics in medicine : official journal of the American College of Medical Genetics, 2022-04-23
Topic: Genetics and APOE
Monogenic causes of complex diseases were more prevalent among individuals with a parental disease history than in the rest of the population. Polygenic risk scores showed moderate discriminative power to identify familial monogenic causes. For instance, we showed that prescreening the patients with a polygenic risk score for type 2 diabetes can prioritize individuals to undergo diagnostic sequencing for monogenic diabetes variants and reduce needs for such sequencing by up to 37%. Among individuals with a family history of complex diseases, those with a low polygenic risk score are more likely to have monogenic causes of the disease and could be prioritized to undergo genetic testing.
Key findings
- Monogenic causes of complex diseases were more prevalent among individuals with a parental disease history than in the rest of the population.
- Polygenic risk scores showed moderate discriminative power to identify familial monogenic causes.
- For instance, we showed that prescreening the patients with a polygenic risk score for type 2 diabetes can prioritize individuals to undergo diagnostic sequencing for monogenic diabetes variants and reduce needs for such sequencing by up to 37%.
- Among individuals with a family history of complex diseases, those with a low polygenic risk score are more likely to have monogenic causes of the disease and could be prioritized to undergo genetic testing.
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Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people 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, multi-centre collaboration and free to read, so those were left out: it earned 23 of the 56 points we could judge it on, which is 41 out of 100.
| 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 | — / 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 | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2022 — within 6 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| 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 35460399) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 23 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 23 of the 56 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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APA 7th
Lu, T., Forgetta, V., Richards, J. B., & Greenwood, C. M. T. (2022). Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2022.03.022
Vancouver
Lu T, Forgetta V, Richards JB, Greenwood CMT. Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. Genetics in medicine : official journal of the American College of Medical Genetics. 2022. doi:10.1016/j.gim.2022.03.022. PMID: 35460399.
BibTeX
@article{lu2022-35460399,
author = {Lu, Tianyuan and Forgetta, Vincenzo and Richards, John Brent and Greenwood, Celia M T},
title = {{Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases}},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
year = {2022},
doi = {10.1016/j.gim.2022.03.022},
pmid = {35460399},
url = {https://doi.org/10.1016/j.gim.2022.03.022}
}