Evidence map›Paper›PMID 33786929›Full record

ArticleJournal of genetic counseling2021

Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.

Marci L B Schwartz, Adam H Buchanan, Miranda L G Hallquist, Christopher M Haggerty, Amy C Sturm

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.Health education & behavior : the official publication of the Society for Public Health Education · 2025
    Article
  6. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. 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

5 authors.

Marci L B SchwartzGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Adam H BuchananGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Miranda L G HallquistGenomic Medicine Institute, Geisinger, Danville, PA, USA.
Christopher M HaggertyThe Heart Institute, Geisinger, Danville, PA, USA.
Amy C SturmGenomic Medicine Institute, Geisinger, Danville, PA, USA.

Funding

A Precision Medicine Approach to Arrhythmogenic CardiomyopathyR01HL141901 · NHLBI · GEISINGER CLINIC · PI CARRUTH, ERIC DAVID · 2019 to 2023
$3.1M
NHLBI NIH HHS R01 HL141901NHLBI NIH HHS R01HL141901
6 · The paper itself

Abstract

Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.

Indexed as

Genetic CounselingGenetic TestingAdultGenomicsHumansgenetic counselinggenetics servicespopulation screeningpredictive genetic testingrisk assessmentsecondary findings

Identifiers

PMID33786929
PMCPMC8192338

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.