Evidence map›Paper›PMID 40305109›Full record

ArticleJournal of genetic counseling2025

Research methods in genetic counseling: Statistical approaches and resources.

Benjamin M Helm, Leah Wetherill

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  3. Article
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

2 authors.

Benjamin M HelmDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0002-5597-0202
Leah WetherillDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0003-2888-9051

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our need for an analytically inclined professional culture and decision-making process, many genetic counselors may not have the training or support needed to ensure such rigor. In this special issue of the Journal of Genetic Counseling, authors were tasked with providing methodological foundations for genetic counselors navigating various phases of research, to improve the quality of our research output and to incorporate our findings into decision-making in healthcare and non-healthcare settings. In this manuscript, we describe various statistical approaches in lay terms and provide resources for genetic counselors new and seasoned alike. We hope to ease some of the trepidation in applying statistical approaches to genetic counseling research and provide resources to increase the analytical confidence of our workforce. This can increase the validity of the analyses and findings disseminated within and beyond our profession. First, we review some history and foundations of statistical practices that inform study design, sampling, data collection, analysis, and interpretation. Next, we highlight how different study designs inform the choice of data analysis and provide resources for statistical strategy choice. Finally, we provide resources on how to interpret statistical test results, recommend best practices, and highlight common but avoidable misconceptions in statistical interpretation. We hope this review provides a framework for novices in quantitative methodology and provides the language needed to collaborate with analytical/statistical colleagues.

Indexed as

Genetic CounselingResearch DesignHumansanalysisdata analysis planquantitativestudy designtraining

Identifiers

PMID40305109
PMCPMC12042996

What OpenQuestion holds

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Registered trials

None linked

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.