Home 5 Clinical Diagnostics Insider 5 New Evidence Addresses Preferences for, Implications of Returning Sequencing Results

New Evidence Addresses Preferences for, Implications of Returning Sequencing Results

by | Mar 15, 2016 | Clinical Diagnostics Insider, Diagnostic Testing and Emerging Technologies, Top of the News-dtet

Clinical uses for comprehensive sequencing, including whole exome sequencing (WES) and whole genome sequencing (WGS) are increasing. Although some recommendations exist for the reporting of secondary findings in comprehensive sequencing, this topic remains controversial. Concerns include psychosocial risks for patients who derive minimal or no clinical benefit from the results, as well as the implications for family members and children. Several research groups are now beginning to provide answers regarding patient preferences, as well as psychosocial and behavioral consequences of return results in large samples of patients. Recent studies show preferences for results among patients with advanced cancer, the potential benefit of returning actionable secondary results along with information on hereditary predisposition for a nonactionable condition, and the use of results among adoptees, without the context of family history. Findings in Advanced Cancer Patients The majority of patients with advanced cancer want both cancer-related and incidental findings from whole exome sequencing (WES), according to a study published online Feb. 11 in Genetics in Medicine. Patients’ low levels of genetic knowledge and oncologists’ inexperience with large-scale sequencing present challenges to implementing paired germline and somatic sequencing in practice, the authors say. Recent studies point to the increased power of sequencing results […]

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