Table 1 Rare disease pathway summary and access to genetic testing by country
From: The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Questions to ERN-eye members? (October 2018 with March 2020 update) | BE | CZ | DK | ES | FR | GE | IT | LV | LT | NL | UK | PL | PT |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Are there national initiatives for genetic testing (GT) such a National Plan? | Y | Y | N | Y | Y | N | N | Y | Y | N | Y | N | N |
Is there a unique national model for the consent form? | N | N | Y | N | Y | N | N | Y | N | N | Y | N | N |
(thus HCP specific) | Y | Y | Y | Y | Y | N | Y | N | Y | Y | Y | Y | Y |
Are most of the GTs done with academic hospital laboratories? | Y | Y | N | Y | N | Y | N | Y | N | Y | N | Y | Y |
Are GTs done by industrial partners? | N | Y | N | Y | N | N | Y | 95% | rare | N | N | Y | Y |
Are there samples sent abroad for GT? | Y | Y | Y | Y | Y | Y | Y | N | N | Y | rare | Y | Y |
Can ophthalmologists prescribe the GTs? | Y | Y | N | Y | Y | Y | N | Y | Y | Y | Y | N | N |
Are there national rules for the prescription of GTs? | Y | Y | Y | Y | Y | N | Y | Y | Y | Y | Y | Y | Y |
Are there multidisciplinary meetings in the GT course? | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y |
Do you have access to Sanger sequencing? | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y |
Do you have access to panel-based testing? | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y |
Do you have access to whole exome sequencing (WES) for GT in your country? | Y | N | N | Y | Y | Y | N | N | Y | Y | Y | N | N |
Do you have access to whole genome sequencing (WGS) for GT in your country? | N | N | N | N | N | N | N | N | N | Y | N* | N | N |
Do you have access to WES for research only? | Y | Y | Y | Y | N | N | Y | Y | N | Y | N | N | N |
Do you have access to WGS for research only? | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | N | Y |
Is the patient reimbursed for GT (gene panels, Sanger)? | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | Y | N | Y |
Is the patient reimbursed for WES? | Y | −na | −na | −na | Soon | Y | N | N | −na | Y | Y | N | N |
Is the patient reimbursed for WGS? | N | −na | N | N | N | N | N | N | Y | N | N | N | N |
Are there enough specialists in genetic ophthalmology in your MS? | Y | N | Y | Y | N | N | N | N | N | Y | Y | N | N |
Is there a national genetic database? | N | N | N | Y | N | N | N | Y | Y | Y | N | N | N |