Table 3.
Key informant suggestions for research needed to improve availability of and access to germline testing.
| Research suggestions | Example suggestions | For-profit and not-for-profit full-service laboratories (FSL) | For-profit germline laboratories (PGL) |
Not-for-profit germline laboratories (NGL) |
|---|---|---|---|---|
| Building genetic test panels | Genes to be reported on a panel; building appropriate test panels | √ | √ | √ |
| Reporting genetic test results | Need structured genetic health reports in electronic health records so genetic information can be consumed | √ | √ | |
| Demonstrate clinical validity and utility | Demonstrate value of germline testing; demonstrate clinical utility; how to aggregate data to help inform clinical utility; utility of genetic testing for different clinical scenarios and conditions; compare diagnostic yield of genetic testing vs. other diagnostics; polygenic risk scores clinical validity and utility | √ | √ | |
| Demonstrate personal utility | Show patient and family perceived utility | √ | ||
| Outcomes research | Partnerships to achieve long-term outcomes; outcomes research for exome | √ | √ | |
| Develop study designs | Convene stakeholders to identify evidence gaps and create study designs to fill evidence gaps; need study designs for rare diseases | √ | √ | |
| Economic evaluation | Cost analyses/cost-effectiveness of genetic testing; cost-effectiveness of genome compared to other testing; clinical utility and cost savings (longer term studies), show economic benefit from testing; examine how demand for economic utility benefits/harms patients | √ | √ | |
| Develop clinical guidelines | Harms/benefits of strict guidelines for genetic testing, for number of genes on panel; focus on guideline development for categories of genetic disorders to inform care pathways instead of rare individual conditions; make sure guideline committees make clear recommendations, don’t use words like “suggest” or “consider” but “recommend” | √ | √ | |
| Legal analysis of genetic test pricing | Standardization and transparency in pricing; legal analysis of two-tier pricing | √ | √ | |
| Policy analysis of payer coverage | Payer medical policy development and analysis; how to align Medicare and Medicaid; how to influence payer coverage decisions | √ | ||
| Policy analysis of genetic test regulation | Impact of legislation and FDA regulation on lab developed tests; transparency in molecular test coding | √ | ||
| Educate stakeholders | Educate nongenetics providers; educate Centers for Medicare and Medicaid policymakers and commercial payers | √ |