Appendix Table III.
Core Elements for Results Management Policy
| Core Elements | Score | Explanation of Score | |
|---|---|---|---|
| Range of results returned | 0 | No result report offered for return | |
| 1 | Only primary result returned | ||
| 2 | Primary result and medically actionable results as determined by service lab routinely returned |
||
| 3 | Primary result and medically actionable results as determined by service lab guided by patient preference returned |
||
| 4 | Primary result and restricted categories of secondary results as determined by service lab guided by patient preference returned |
||
| 5 | Primary result and non-restricted categories of secondary results guided by patient preference returned |
||
| Patients related to secondary results, and time constraints |
0 | Does not allow for patient preferences | |
| 1 | Allows for patient preferences for some secondary results as determined by service lab, and one time to decide |
||
| 2 | Allows for patient preferences for all secondary results as determined by service lab, and one time to decide |
||
| 3 | Allows for patient preferences for some secondary results as determined by service lab, and period of time to decide |
||
| 4 | Allows for patient preferences for all secondary results as determined by service lab, and period of time to decide |
||
| 5 | Allows for patient preferences for all secondary results (beyond that offered by service lab), and ability to change preferences over time |
||
| Updating of result interpretation |
0 | No updating of results offered | |
| 1 | Offers to update results, but no details provided | ||
| 2 | Recommends/requires provider request if results interpretation has changed |
||
| 3 | Contacts provider if new information related only to primary finding is discovered |
||
| 4 | Contacts provider if new information related to any result reported is discovered |
||
| 5 | Provides web interface for patients/providers to see up to date information about any given result |
||
| Patients accessing their results |
0 | Patients cannot access any result | |
| 1 | Patients can only access primary result through their ordering provider/EMR |
||
| 2 | Patients can access primary and company determined medically actionable findings through ordering provider/EMR |
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| 3 | Patients can access primary and restricted range of secondary results through their ordering provider and/or EMR |
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| 4 | Patients can access all results through ordering provider and/or EMR |
||
| 5 | Patients given independent ability to access their results at their discretion and over time |
||
| Informational/counseling resources available to patients |
0 | No informational/counseling resources available to patients |
|
| 1 | Results report is the only resource provided to patients through an intermediary (i.e. clinician) |
||
| 2 | Results report and service lab provided online patient focused brochures/information sheets on ES |
||
| 3 | Results report and service lab recommends in pre- and post-test genetic counseling |
||
| 4 | Results report, service lab recommends pre- and post-test genetic counseling, and provides online patient focused resources |
||
| 5 | Results report, service lab offers telemedicine pre- and post-test genetic counseling and online educational resources |
||
| Report construction (results, interpretation) |
0 | No report returned to provider | |
| 1 | Results section and interpretation of report does not follow any recommendations as recommended by ACMG (ACMG recommendations for standards for interpretation and reporting of sequence variation)* |
*II. Reporting of Sequence Variations: Recommendations 1-6; A. Use of standardized terminology and established databases for reporting sequence variants: Recommendations 1-2, B. Limitations of sequence-based testing should be reported: Recommendations 1-5 |
|
| 2 | Results section and interpretation of report follows some recommendations as recommended by ACMG |
||
| 3 | Results section and interpretation of report follows all* recommendations as recommended by ACMG |
*Results section follows all ACMG recommendations= all recommendations in II (1-6), A (1-2), B (1-6) |
|
| Report construction (methods) |
0 | No methods section included in results report | |
| 1 | Methods section has incomplete description of technical aspects |
||
| 2 | Methods section has incomplete description of technical aspects, and lab offers to provide genes/regions of exome with poor to no coverage |
||
| 3 | Complete explanation of the technical aspects*, lab offers to provide gene/regions of exome with poor to no coverage |
*Complete explanation of technical aspects= exome capture kit used, sequencing platform used, variant calling/annotating/filtering, report-specific coverage/quality metrics |
|
EMR: electronic medical record; ES: exome sequencing
Source:
Ambry Exome Patient Consent Form (F0912-02-011p-PTM-06), correspondence with lab representative
ARUP Informed Consent for Exome Sequencing with Symptom-Guided Analysis (ARUP Rev.1 5/12), correspondence with lab representative
Baylor Whole Exome Sequencing Requisition - Information and Consent for Testing (Last Updated: 9/24/2012), correspondence with lab representative
Emory EmExome Informed Consent Document (Rev. 6/2012), correspondence with lab representative
GeneDxXomeDx Informed Consent Document (GeneDx 07/12), correspondence with lab representative
UCLA Informed Consent for Postnatal Clinical Exome Sequencing, correspondence with lab representative