Table 2 Implementation changes to consider in specific common diseases where actionable attribution can be revealed with a specific genetic test
From: Addressing the routine failure to clinically identify monogenic cases of common disease
Category | Item number | Recommended for consideration |
|---|---|---|
Criteria for ordering monogenic tests in the diagnosed patient | 1 | Re-evaluation of the risks and benefits of employing genetic testing criteria checklists aimed at limiting who is offered testing to identify monogenic causes of common diseases |
2 | Expansion of the ovarian cancer model that prompts reflexive genetic testing for all individuals with a given specific common disease diagnosis | |
Reflexive test offerings | 3 | Creation and maintenance of a list of common disease diagnoses and the specific reflexive gene tests they prompt by an authoritative group with credibility and standing across the healthcare community |
4 | Creation of reflexive genetic testing panels that are designed to offer only those genes supported by clear evidence of clinical actionability for the diagnosed patient | |
Pre-test interaction | 5 | The association of reflexive genetic test implementation with approaches that assure equitable access in historically underserved populations |
6 | Development of a standardized clinical consent process for reflexive genetic tests that can easily be completed by any competent healthcare professional | |
7 | Development of best clinical practices that offer reflexive genetic testing in a manner that does not require the involvement of individuals with advanced genetics training or expertise | |
8 | Offering reflexive genetic tests to patients with certain specific diagnoses without the expectation or requirement of a detailed family history ascertainment as part of pre-test discussion | |
Cost coverage | 9 | Re-evaluation of policies and practices that can (or do) result in a denial of coverage for reflexive genetic tests that seek to identify monogenic causes of common disease associated with actionable attribution |
Test reporting | 10 | Attention to making the actionable results on laboratory reports clear to any competent provider, even a first-time user |
11 | Clear communication from the testing laboratory of their plan and commitment to variant re-analysis and results updating so that the non-expert end-user does not need to worry about currently uninterpretable information (i.e., variants of unknown significance) | |
Result disclosure | 12 | Establishment of a defined standard of care for patients surrounding results on a reflexive genetic test in common disease |