Evidence map›Paper›PMID 36207653›Full record

ArticleFamilial cancer2023

Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?

Ryan Matthew Kahn, Muhammad Danyal Ahsan, Eloise Chapman-Davis, Kevin Holcomb, Roni Nitecki, Jose Alejandro Rauh-Hain, Rana Khan Fowlkes, Francesca Tubito, Maira Pires, Paul J Christos and 6 more

Abstract read
In one paragraph

Article in Familial cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Lights genes action: Video strategy forGynecologic oncology reports · 2026
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  3. Navigating the healthcare system with aGynecologic oncology reports · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Trends in the Utilization ofCurrent oncology (Toronto, Ont.) · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. 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

16 authors.

Ryan Matthew KahnDept. of Obstetrics and Gynecology, Weill Cornell Medicine, 525 E 68th St., J-130, 10065, New York, NY, USA. KahnR@mskcc.org.ORCID 0000-0002-5596-6238
Muhammad Danyal AhsanDept. of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA.
Eloise Chapman-DavisDept. of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA.
Kevin HolcombDept. of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA.
Roni NiteckiDept. of Gynecologic Oncology, MD Anderson Cancer Center, Houston, TX, USA.
Jose Alejandro Rauh-HainDept. of Gynecologic Oncology, MD Anderson Cancer Center, Houston, TX, USA.
Rana Khan FowlkesDept. of Obstetrics and Gynecology, Weill Cornell Medicine, 525 E 68th St., J-130, 10065, New York, NY, USA.
Francesca TubitoGenetic Counseling, Weill Cornell Medicine, New York, NY, USA.
Maira PiresGenetic Counseling, Weill Cornell Medicine, New York, NY, USA.
Paul J ChristosDepartment of Population Health Sciences, Weill Cornell Medicine, New York, NY, USA.
Kaitlyn TkachukDept. of Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hannah KrinskyDept. of Obstetrics and Gynecology, Weill Cornell Medicine, 525 E 68th St., J-130, 10065, New York, NY, USA.
Ravi N SharafDept. of Gastroenterology, Weill Cornell Medicine, New York, NY, USA.
Kenneth OffitDept. of Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Steven LipkinGenetic Counseling, Weill Cornell Medicine, New York, NY, USA.
Melissa K FreyDept. of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
Disparities in COVID Disease Severity and Outcomes in New York CityUL1TR002384 · NCATS · WEILL MEDICAL COLL OF CORNELL UNIV · PI JULIANNE L IMPERATO-MCGINLEY · 2017 to 2026
$86.2M
Clinical and Translational Science CenterUL1TR000457 · NCATS · WEILL MEDICAL COLL OF CORNELL UNIV · PI IMPERATO-MCGINLEY, JULIANNE L · 2012 to 2016
$46.0M
NCATS NIH HHS UL1 TR000457NCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1 TR002384NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results.

Indexed as

Breast NeoplasmsHereditary Breast and Ovarian Cancer SyndromeOvarian NeoplasmsFemaleFollow-Up StudiesGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHumansCascade genetic testingHereditary breast and ovarian cancer syndromeLynch syndromePredictive testing

Identifiers

PMID36207653
PMCPMC10947313

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.