<p>Obstetric carrier screening (OCS) is recommended for all individuals during pregnancy by leading professional societies. However, patient understanding of the scope and limitations of OCS remains poorly characterized, especially with regards to inclusion of cancer-related genes on OCS panels. This quality improvement initiative evaluated pregnant patients’ knowledge of their OCS results. We contacted 100 pregnant patients who had recently completed OCS and participated in a structured telephone interview following physician disclosure of results. When asked about the content of OCS, 52% of patients were unsure or incorrectly believed that cancer-related genes were included on the panel. After clarification of the specific genes and syndromes tested, 73% of patients reported that they would have elected to undergo hereditary cancer screening had it been offered concurrently with OCS. These findings reveal substantial gaps in patient comprehension of OCS and suggest that many pregnant patients incorrectly assume that cancer susceptibility genes are included in their testing. The high level of interest in hereditary cancer screening following clarification underscores pregnancy as a unique window of opportunity to expand access to cancer genetics. Integrating cancer risk assessment into obstetric care may improve uptake of preventive strategies and broaden the impact of genomics on women’s health.</p>

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Misinterpreting the results: patient misconceptions about genetic cancer risk after obstetrical carrier screening

  • Alex Raghunandan,
  • Sonali Iyer,
  • Shayan Dioun,
  • Jessica Scholl,
  • Robin B Kalish,
  • Michelle Primiano,
  • Amanda Laterza Ozarowski,
  • Ravi N Sharaf,
  • Melissa K. Frey

摘要

Obstetric carrier screening (OCS) is recommended for all individuals during pregnancy by leading professional societies. However, patient understanding of the scope and limitations of OCS remains poorly characterized, especially with regards to inclusion of cancer-related genes on OCS panels. This quality improvement initiative evaluated pregnant patients’ knowledge of their OCS results. We contacted 100 pregnant patients who had recently completed OCS and participated in a structured telephone interview following physician disclosure of results. When asked about the content of OCS, 52% of patients were unsure or incorrectly believed that cancer-related genes were included on the panel. After clarification of the specific genes and syndromes tested, 73% of patients reported that they would have elected to undergo hereditary cancer screening had it been offered concurrently with OCS. These findings reveal substantial gaps in patient comprehension of OCS and suggest that many pregnant patients incorrectly assume that cancer susceptibility genes are included in their testing. The high level of interest in hereditary cancer screening following clarification underscores pregnancy as a unique window of opportunity to expand access to cancer genetics. Integrating cancer risk assessment into obstetric care may improve uptake of preventive strategies and broaden the impact of genomics on women’s health.