Table 2. Results returned in CSER U-award studies.
Site | Indication-specific findings | Tumor analysis | Actionable secondary or incidental findings | Pharmacogenetic findings | Carrier status | Nonactionable secondary or incidental findings | Other | VUS |
---|---|---|---|---|---|---|---|---|
1 | Yes | Yes | ACMG plus additional | Yes | Yes (opt-out) | No | All tumor VUS; germ-line VUS only related to indication | |
2 | Yes | Select variants associated with chemotherapy recommendations | ACMG plus additional | Select gene–drug pairs | 10 conditions | No | VUS related to indication and for medically actionable genes that family analysis would clarify | |
3 | Yes | No | ACMG plus additional | Yes | Yes | Yes | Risk variants for select common complex conditions based on GWAS and red blood cell/platelet antigen typing | VUS related to indication and VUS favor pathogenic regardless of indication |
4 | Yes | No | ACMG plus additional | No | 3 conditions plus OMIM genes for which participating parents are both carriers | No | VUS related to indication | |
5 | Yes | No | Locally determined list of actionable conditions | Yes (opt-in) | Yes (opt-in) | Yes (opt-in), including rare but highly penetrant variants for serious nontreatable conditions | Variants for risk in select common complex conditions based on GWAS (opt-in) | VUS related to indication |
6 | Yes | Actionable or potentially actionable somatic variants with focus on therapy | ACMG plus additional | No | Yes | No | VUS related to indication | |
7 | Yes | No | ACMG plus additional (opt-in) | No | Carrier status is focus of study | No | Variants in mitochondrial genes | No |
8 | Yes | Yes | Custom list of 2,000 plus genes | Yes | No | VUS related to indication | ||
9 | Yes | Yes | Yes | No | No | No | No |
ACMG, American College of Medical Genetics and Genomics; CSER, Clinical Sequencing Exploratory Research Consortium; GWAS, genome-wide association studies; VUS, variants of uncertain significance.
“ACMG” refers to the roster of 56 secondary findings in Green et al.22