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Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic

Allison W Kurian1,2, Paul Abrahamse3, Allison Furgal3

  • 1Department of Medicine, Stanford University, Stanford, CA.

JCO Precision Oncology
|June 3, 2026
PubMed
Summary

Patients with cancer want to share genetic test results, but clinician involvement and relative testing rates are low. New models are needed to improve cascade testing for hereditary cancer risk.

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Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Germline testing for hereditary cancer is underutilized.
  • Testing patterns vary significantly based on cancer type.
  • Cascade testing of relatives is crucial for hereditary cancer risk reduction.

Purpose of the Study:

  • To investigate patient and clinician involvement in cascade testing after a pathogenic variant (PV) diagnosis.
  • To compare involvement based on whether the PV is associated with breast or gastrointestinal (GI) cancers.
  • To understand patient attitudes and actions regarding communicating results to relatives.

Main Methods:

  • Surveyed 4,080 cancer patients diagnosed in 2018-2019 regarding result communication and relatives' testing.
  • Categorized pathogenic variants (PVs) by association with breast or GI cancers.
  • Analyzed clinician involvement (genetic counselors, oncologists, surgeons) in result communication.

Main Results:

  • Of 2,183 respondents, most had PVs linked to breast cancer (83.4%).
  • Genetic counselors were more involved than oncologists or surgeons in communication and advising relatives.
  • Despite patient motivation, only 29.0% reported relatives were tested, with no significant difference by cancer type.

Conclusions:

  • Patients are motivated to share genetic test results, but clinician engagement in cascade testing is limited.
  • Relatives' uptake of genetic testing remains low, hindering hereditary cancer risk reduction.
  • Innovative care delivery models are essential to enhance cascade testing and precision risk management.