Table 2.
Major policy issues
| 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 |
EHR, electronic health record; ELSI, ethical, legal and social implication; VUS, variants of uncertain significance; WES, whole-exome sequencing; WGS, whole-genome sequencing.