Evidence map›Paper›PMID 34284826›Full record

ReviewHuman genomics2021

Implementation and implications for polygenic risk scores in healthcare.

John L Slunecka, Matthijs D van der Zee, Jeffrey J Beck, Brandon N Johnson, Casey T Finnicum, René Pool, Jouke-Jan Hottenga, Eco J C de Geus, Erik A Ehli

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Human genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07260552 (Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue), which is not on this map. Cited by 66 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 2 pooled it
10.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07260552 not yet recruitingnot on this mapstarted 2027, after this paper: background citation

Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue (RESPOND) to Coronary Heart Disease

TypeobservationalSponsorMedical College of WisconsinRan2027 to 2031Enrolled200ConditionsCoronary Heart DiseaseArmsPolygenic risk score
3 · Its place in the literature

Who cites it

66 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Primary care physician use of patient race and polygenic risk scores in medical decision-making.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Trial
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Review
  11. Article
  12. Polygenic risk scores for cardiovascular disease: clinical utility and limitations.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2026
    Review
  13. Article
  14. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
  15. Article
  16. Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.Journal of clinical neurology (Seoul, Korea) · 2026
    Article
  17. Article
  18. Article
  19. Review
  20. Review

6 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

John L SluneckaAvera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA. john.slunecka@coyotes.usd.edu.ORCID 0000-0001-6462-1146
Matthijs D van der ZeeDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.ORCID 0000-0003-4076-9167
Jeffrey J BeckAvera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.ORCID 0000-0002-1152-9968
Brandon N JohnsonAvera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.ORCID 0000-0001-6633-2882
Casey T FinnicumAvera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.ORCID 0000-0001-5959-3961
René PoolDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.ORCID 0000-0001-5579-0933
Jouke-Jan HottengaDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.ORCID 0000-0002-5668-2368
Eco J C de GeusDepartment of Biological Psychology, Netherlands Twin Register, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.ORCID 0000-0001-6022-2666
Erik A EhliAvera Institute for Human Genetics, Avera McKennan & University Health Center, Sioux Falls, SD, USA.ORCID 0000-0002-7865-3015
Avera McKennan Hospital & University Health Center · USVrije Universiteit Amsterdam · NLAvera Health · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWASs), are able to stratify individuals based on their genetic risk of developing various common diseases and could potentially be used to optimize the use of screening and preventative treatments and improve personalized care for patients. Many challenges are yet to be overcome, including PRS validation, healthcare professional and patient education, and healthcare systems integration. Ethical challenges are also present in how this information is used and the current lack of diverse populations with PRSs available. In this review, we discuss the topics above and cover the nature of PRSs, visualization schemes, and how PRSs can be improved. With these tools on the horizon for multiple diseases, scientists, clinicians, health systems, regulatory bodies, and the public should discuss the uses, benefits, and potential risks of PRSs.

Indexed as

Genetic Diseases, InbornGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePhenotypeRisk FactorsClinical geneticsGenetic riskPolygenic risk scorePRSPublic healthRisk stratification

Identifiers

PMID34284826
PMCPMC8290135
OpenAlexW3186661058

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.