Table 1 Challenges of integrating ES/WGS in clinical practice
From: Patient-controlled encrypted genomic data: an approach to advance clinical genomics
Meaningful patient informed-consent may not be feasible | |
|---|---|
Complex medical and social implications of the test results, | |
Possibility of incidental findings, | |
Multiple findings of uncertain clinical significance, | |
Insurance companies do not reimburse pre-testing counselling for ES/WGS | |
Multiple issues to discuss leading to prohibitive requirements in time & resources | |
Potential emotional distress over disease risk even among healthy individuals | |
Genomic information is a powerful personal identifier | |
Raising concerns about privacy, confidentiality, genetic discrimination | |
Very large amounts of genetic information generated | |
Limited number of clinical geneticists for data interpretation and clinical care | |
Substantial time and cost for data analysis and genetic counselling | |
Dynamic/evolving nature of the interpretation as new knowledge is gained | |
Duty to re-contact patients as knowledge changes over time | |
Shift from the present “phenotype-first” medical model to a “data-first” model. | |
Currently, genetic risk assessment is restricted to individuals at increased risk based on family history or clinical presentation (ensuring the necessary genomic background), or newborn screening programs meeting specific criteria. | |
Can we predict the impact of even known pathogenic variants outside this setting? | |
Is there adequate evidence to suggest that a departure from these standards will be beneficial to society? |