| Sequencing Input |
|
| Which patients are sequenced |
| People with risk factors or symptoms (disease-specific genomic medicine) |
| People in the general population with no known risk factors (general genomic medicine) |
| Why patients are sequenced |
| Diagnosis |
| Treatment decisions and monitoring |
| Detection of future risk |
| Reproductive planning (preconception and prenatal screening) |
| Newborn screening |
| What is sequenced |
| Genetic information of a person present at birth (inherited or germline) |
| Genetic information of a disease-state material in a person (for example, tumor or infection) that emerges during the person's life (somatic or acquired) |
|
| Sequencing Methods |
|
| Technology used |
| Platform used (machine, chemistry, and software), interpretation, and reporting standards |
| Accuracy and reproducibility of results |
| Extent of sequencing |
| Single mutation testing |
| Testing of panels of multiple genes or regions |
| Whole exome sequencing |
| Whole genome sequencing |
|
| Sequencing Output |
|
| Findings examined and reported |
| Disease specific |
| Incidental or secondary |
| Of unknown significance |
| Clinical relevance of findings |
| Variants with known clinical validity and utility (where an intervention exists that is associated with improved patient outcomes) |
| Variants that may not currently be directly actionable |
| Variants with unknown or no clinical significance |
| Findings used for research purposes only |
