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Pharmacogenetics or predictive genetics? APOE testing blurs the lines
Zampatti S, Peconi C, Farro J, Piras F, Pellicano C, Caltagirone C, Giardina E.. Frontiers in pharmacology, 2025-07-21
Topic: Amyloid, tau and blood-test diagnosis
The integration of pharmacogenetics into personalized medicine enables the optimization of drug selection and dosage, maximizing therapeutic benefits while minimizing the risk of adverse drug reactions. The association between APOE alleles and ARIA, a known adverse reaction in Alzheimer's disease patients treated with anti-amyloid monoclonal antibodies, has led to the inclusion of APOE genotyping among conventional pharmacogenetic tests. Given the dual role of APOE alleles, the widespread implementation of this genetic test requires caution and should be accompanied by appropriate genetic counselling. APOE genotyping is uniquely positioned at the intersection of pharmacogenetics and germline testing: it provides insight not only into drug safety (specifically the risk of Amyloid-Related Imaging Abnormalities) but also into familial risk for developing Alzheimer's disease. Carriers of risk alleles, especially homozygotes, face the highest risk and require close monitoring. While APOE genotyping can inform treatment decisions, it also raises ethical concerns due to the broader implications of disclosing genetic risk information for neurodegenerative diseases. Identifying a high-risk APOE genotype in a patient substantially impacts family members. Therefore, patients considered for treatment with anti-amyloid monoclonal antibodies should receive comprehensive pre- and post-test genetic counseling that goes beyond traditional standards, as currently provided for other peculiar tests. Such counseling ensures that patients are adequately informed about potential outcomes, psychological impacts, and familial implications. It also supports ethical decision-making and facilitates truly informed consent, helping to prevent deterministic or overly simplistic interpretations of genetic risk.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Zampatti, S., Peconi, C., Farro, J., Piras, F., Pellicano, C., Caltagirone, C., et al. (2025). Pharmacogenetics or predictive genetics? APOE testing blurs the lines. Frontiers in pharmacology. https://doi.org/10.3389/fphar.2025.1627239
Vancouver
Zampatti S, Peconi C, Farro J, Piras F, Pellicano C, Caltagirone C, et al. Pharmacogenetics or predictive genetics? APOE testing blurs the lines. Frontiers in pharmacology. 2025. doi:10.3389/fphar.2025.1627239. PMID: 40761402.
BibTeX
@article{zampatti2025-40761402,
author = {Zampatti, S. and Peconi, C. and Farro, J. and Piras, F. and Pellicano, C. and Caltagirone, C. and Giardina, E.},
title = {{Pharmacogenetics or predictive genetics? APOE testing blurs the lines}},
journal = {Frontiers in pharmacology},
year = {2025},
doi = {10.3389/fphar.2025.1627239},
pmid = {40761402},
url = {https://doi.org/10.3389/fphar.2025.1627239}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 7 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- While APOE genotyping can inform treatment decisions, it also raises ethical concerns due to the broader implications of disclosing genetic risk information for neurodegenerative diseases.
- Identifying a high-risk APOE genotype in a patient substantially impacts family members.
- Therefore, patients considered for treatment with anti-amyloid monoclonal antibodies should receive comprehensive pre- and post-test genetic counseling that goes beyond traditional standards, as currently provided for other peculiar tests.
- Such counseling ensures that patients are adequately informed about potential outcomes, psychological impacts, and familial implications.
- It also supports ethical decision-making and facilitates truly informed consent, helping to prevent deterministic or overly simplistic interpretations of genetic risk.
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Study details
- Evidence strengthLow
How this study scored 45/100
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 and multi-centre collaboration, so those were left out: it earned 26 of the 58 points we could judge it on, which is 45 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Frontiers in pharmacology) |
| 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 | 4 / 5 | 2025 — within 3 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 40761402) |
| Free to read | 2 / 2 | Free to read |
| Points | 26 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 26 of the 58 points we could judge it on is 45 out of 100. |
| Total | 45 / 100 | — |
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