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Table 2 Major policy issues

From: Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

ELSI challenges Policy questions Possible solutions
Duty to re-contact To what extent healthcare providers have a duty to re-contact patients in the case of a reclassified VUS • EHRs and integration of genomic data into EHRs
• Rely on patient to request new interpretation
• Patient access to databases
• Formulate standard practices for re-contact
• Integrate notification of users (health professionals, counselors or consumers) into databases, websites and interpretive software
Informed consent Considerations and options within the informed consent process • Broad consent
• Opt out option for some results
• Options for re-contact integrated into consent process
Patient understanding How to reduce uncertainty introduced by VUS results that can lead to misunderstanding by patients and professionals • Careful pretest counseling with qualified genetic counselors or other health professionals
• Education of clinicians, counselors and consumers
• Resources to assist consumers in interpreting test results
Data sharing How to aggregate data on VUS from disparate clinical and research laboratories, particularly those performing gene panel or WES/WGS analyses • Centralized open-access database
• Make deposition of data and methods sufficient to enable independent verification a condition of payment
• Accreditation of laboratories contingent on independent verification and data sharing
• Condition of certification for laboratory directors and/or genetics health professionals
Research to improve VUS interpretation How to improve the evidence base for interpretation of genomic variants • Public and private research programs
• Individual research projects
• Consortia and formal research networks
• Studies of ethical, legal and practical experience in using gene panels and WGS/WES analysis
  1. EHR, electronic health record; ELSI, ethical, legal and social implication; VUS, variants of uncertain significance; WES, whole-exome sequencing; WGS, whole-genome sequencing.