Table 1

Challenges of integrating ES/WGS in clinical practice
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?

Trakadis

Trakadis BMC Medical Genomics 2012 5:31   doi:10.1186/1755-8794-5-31

Open Data