Table 2.
The scope and challenges associated with genomic testing across different life cycle stages.
| Considerations across the life cycle | Life cycle stage | |||||
|---|---|---|---|---|---|---|
| Reproductive age | Preimplantation | Prenatal | Pediatric | Adult | Posthumous | |
| SCOPE OF TEST | ||||||
| Who is primarily tested? | Prospective parents | Embryo | Fetus/mother | Child | Adult | Deceased |
| Who does the healthcare decision primarily concern? | Prospective parents/potential embryos | Embryo | Fetus/mother | Child | Adult | Family members |
| Is a phenotype available at time of testing? | No | No | Possibly | Possibly | Possibly | Possibly |
| TYPE OF TESTS AVAILABLE | ||||||
| Screening | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Diagnostic | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Personal/direct-to-consumer (non-clinical)/pharmacogenomics | ✓ | ✓ | ||||
| Microorganism | ✓ | ✓ | ✓ | |||
| Prognostic/Predictive/Presymptomatic | ✓ | ✓ | ✓ | ✓ | ||
| CONDITIONS IDENTIFIED | ||||||
| Inherited germline | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Acquired germline | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Somatic | ✓ | ✓ | ✓ | |||
| PERSONAL AND CLINICAL UTILITY OF GENOMIC INFORMATION FOR TESTED INDIVIDUALS AND/OR FAMILY MEMBERS VIA CASCADE SCREENING | ||||||
| Reproductive choice (e.g., not having children, assisted reproduction, termination) | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Preparation for future | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| Prevention or intervention | ✓ | ✓ | ✓ | |||
| Providing a molecular diagnosis (new or suspected) | ✓ | ✓ | ✓ | ✓ | ✓ | |
| Inform treatment and/or management options | ✓ | ✓ | ✓ | |||
| POTENTIAL HEALTH CONSEQUENCES OF FALSE POSITIVES | ||||||
| Decision not to implant an unaffected embryo | ✓ | |||||
| Termination of an unaffected fetus | ✓ | |||||
| Unnecessary use of assisted reproductive technology | ✓ | |||||
| Over diagnosis, over treatment, or wrong treatment | ✓ | ✓ | ✓ | |||
| Unnecessary cascade testing or cascade testing for a wrongly attributed variant | ✓ | ✓ | ✓ | ✓ | ✓ | |
| POTENTIAL HEALTH CONSEQUENCES OF FALSE NEGATIVES | ||||||
| Missed opportunity for prior preparation, prevention, or intervention | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
| No or wrong treatment | ✓ | ✓ | ✓ | ✓ | ||
| Missed opportunity for cascade testing for a wrongly attributed variant | ✓ | ✓ | ✓ | ✓ | ✓ | |
| INFORMED CONSENT | ||||||
| Tested individual unable to consent | ✓ | ✓ | ✓ | ✓ | ||
| ASPECTS RELEVANT ACROSS THE LIFE CYCLE | ||||||
| Implications, considerations, and uses of test results | Research translation, incidental or secondary findings, non-actionable findings, non-health related traits, forensic investigation, ancestry, insurance, variants of unknown significance, sensitivity of data, longevity of data, versatility of data, reference data, genomic literacy. | |||||