Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United States Article Swipe
Katherine E. Bonini
,
Hadley Stevens Smith
,
Emily Bonkowski
,
Benjamin E. Berkman
,
Leila Jamal
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1159/000541301
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1159/000541301
Background: Though genomic science has rapidly advanced, efforts to demonstrate the population-level utility of genomics have been slow to follow. It has long been argued that the family is an important unit of significance in genomics, yet it has been challenging to address this in clinical care. This is apparent in how hospital administrators and clinicians in the United States typically approach cascade screening, the process of notifying and offering genetic testing to at-risk relatives of a patient with a hereditary condition. The most common notification approach is proband-led contact, in which the index patient is responsible for communicating a health risk to their relatives. This model has been associated with suboptimal outcomes. In contrast, recent research has shown that system-led contact, in which healthcare or public health institutions initiate communication to relatives with the proband’s consent, has been associated with increased clinical utility and acceptability. Summary: With the needs of hospital administrators and clinicians in mind, we revisit normative questions about the appropriate way to notify relatives about their potentially elevated risk of developing an actionable disease. We review evidence demonstrating that system-led direct contact of relatives is feasible and acceptable. We further argue that system-led contact of relatives eligible for cascade screening is ethically justified if these programs are designed with public input, have an opt-out provision, and are implemented for conditions that meet specific criteria which we propose in this article. Key Messages: In this article, we emphasize the usefulness of public health ethics frameworks to inform the design of system-led contact programs. Beyond this, we make the case that such programs are necessary to realize the population utility of genomic medicine equitably.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1159/000541301
- OA Status
- diamond
- Cited By
- 2
- References
- 93
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4404201423Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1159/000541301Digital Object Identifier
- Title
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Modern Family: An Ethical Justification for System-Led Contact of Relatives Eligible for Cascade Screening in the United StatesWork title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-11-09Full publication date if available
- Authors
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Katherine E. Bonini, Hadley Stevens Smith, Emily Bonkowski, Benjamin E. Berkman, Leila JamalList of authors in order
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https://doi.org/10.1159/000541301Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1159/000541301Direct OA link when available
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Medicine, Family medicine, PsychologyTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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2025: 2Per-year citation counts (last 5 years)
- References (count)
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93Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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