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Updated: Jun 18, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Public attitudes toward cascade genetic screening in the United States
Hadley Stevens Smith1,2,3, Emilie S Zoltick1,2, Madison R Hickingbotham1
1Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA.
Introduction:
After a patient receives genetic test results that indicate an actionable health condition, cascade genetic screening (CGS) is the process of evaluating the patient's relatives for a potentially elevated genetic risk of disease. The United States primarily relies on patients to communicate with their relatives, resulting in suboptimal rates of risk communication, familial genetic testing uptake, and risk-reducing interventions. There is ongoing debate about whether and how best to inform relatives of a potentially increased genetic risk.
Methods:
We conducted a nationally representative survey of US adults to assess attitudes toward informing at-risk relatives, acceptability of system-mediated communication, and preferences for the patient's role in risk communication.
Results:
Respondents (n = 2056) overwhelmingly supported informing relatives about their genetic risk across condition types, with minimal disagreement (<10%) about a relative's right to know this information. Most agreed (>45% agreed; >30% strongly agreed) they would want to decide for themselves whether their results are shared, though many favorably viewed doctor-supported communication. Direct clinician contact was acceptable (37.4%) or totally acceptable (11.5%) with patient permission but rarely acceptable without consent.
Conclusion:
Findings indicate strong public support for sharing genetic risk information within families, alongside clear expectations for patient consent, to guide CGS implementation in the United States.
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