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Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

Australian researchers reporting in the European Journal of Human Genetics consider public perceptions on cascade testing, particularly if they were to have a relative with a medically actionable condition who provided consent for notification of at-risk family members. Based on survey data for 1,030 adult participants responding to a consumer research company survey in Australia, the team found that 85 percent of individuals said they would want to know if genetic variants linked to a treatable or preventable condition were detected in a family member, with 68 percent of respondents expressing a preference for receiving the information through direct contact from a health professional. Less than 5 percent of those surveyed cited privacy concerns, though around half they would rather hear from the affected family member prior to receiving a health professional's letter. "This study provides a snapshot of the Australian public's views and preferences regarding direct contact by [health professionals] about medically actionable genetic risk," the authors explain, noting that the study's respondents "expressed a preference for being told about their possible genetic risk, being contacted directly by a [health professional], and being provided with specific information about the genetic condition up front."