Evidence map›Paper›PMID 39896148›Full record

ArticleGenetics in medicine open2025

Pilot implementation study of a default genetic referral process for patients with early-onset colorectal cancer.

Kelsey S Lau-Min, Shavon Rochester, Megan Grabill, Jessica M Long, Danielle B McKenna, Jacqueline Powers, Danny Bracy, Leland Boisseau, Peter Gabriel, Randall Oyer and 4 more

Abstract read
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Kelsey S Lau-MinDivision of Hematology/Oncology, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Shavon RochesterDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Megan GrabillDepartment of Family Medicine and Community Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Jessica M LongDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Danielle B McKennaDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Jacqueline PowersDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Danny BracyDepartment of Family Medicine and Community Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Leland BoisseauInformation Services Applications, Penn Medicine, University of Pennsylvania, Philadelphia, PA.
Peter GabrielDepartment of Radiation Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Randall OyerAnn B. Barshinger Cancer Institute, Penn Medicine at Lancaster General Health, Lancaster, PA.
Susan M DomchekDivision of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Katharine A RendleDepartment of Family Medicine and Community Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Katherine L NathansonAbramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Bryson W KatonaDivision of Gastroenterology and Hepatology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Funding

Randomized trial of universal vs. guideline-directed germline testing among young adults with cancerU01CA232836 · NCI · UNIVERSITY OF PENNSYLVANIA · PI JOFFE, STEVEN, NATHANSON, KATHERINE L. · 2019 to 2022
$5.0M
Postdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2M
NCI NIH HHS U01 CA232836NHGRI NIH HHS T32 HG009495
6 · The paper itself

Abstract

Purpose: Early-onset colorectal cancer (CRC) diagnosed under age 50 is increasing at alarming rates, with >75% of early-onset cases occurring in patients between 40 and 49 years old. Germline genetic risk evaluations are key to delivering high-quality care to these patients. Methods: We conducted a single-arm pilot implementation study of a default genetic referral process for patients diagnosed with CRC between ages 40 and 49 at 5 hospitals in an academic health system. A research coordinator notified patients and their oncologists of their eligibility for a default genetic referral, after which all patients who did not opt out were referred for genetic counseling, testing, and result disclosure as per usual care. The primary outcome was the genetic referral rate; secondary outcomes included the percentage of eligible patients who were scheduled for a genetic evaluation, completed genetic counseling, and underwent testing within 3 months of the initial referral. We conducted semistructured exit interviews with a subset of patients and oncologists to elicit feedback on the intervention. Results: We included 53 patients, of whom 49 (92%) were referred to genetics, 38 (72%) were scheduled, 22 (42%) completed genetic counseling, and 13 (25%) underwent testing within 3 months of the initial referral. In exit interviews ( Conclusion: A default genetic referral process is acceptable, feasible, and associated with a high referral rate for patients with early-onset CRC; however, subsequent scheduling, evaluation, and testing rates remain suboptimal.

Indexed as

Behavioral economicsColorectal cancerGenetic predisposition testingImplementation science

Identifiers

PMID39896148
PMCPMC11780105

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.