Evidence map›Paper›PMID 36353115›Full record

ArticleFrontiers in genetics2022

From the patient to the population: Use of genomics for population screening.

Chloe Mighton, Salma Shickh, Vernie Aguda, Suvetha Krishnapillai, Ella Adi-Wauran, Yvonne Bombard

Abstract read
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. Review
  2. GermlineCurrent oncology (Toronto, Ont.) · 2025
    Article
  3. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  4. Article
  5. Review
  6. Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
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

6 authors.

Chloe MightonGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Salma ShickhGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Vernie AgudaGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Suvetha KrishnapillaiGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Ella Adi-WauranGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Yvonne BombardGenomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

Indexed as

familial hypercholestelemiagenetic testinghereditary breast and ovarian cancer (HBOC)lynch syndromepopulation screeningtier 1 conditions

Identifiers

PMID36353115
PMCPMC9637971

What OpenQuestion holds

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Registered trials

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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.