ERA CONFERENCE 2024
ADTKD diagnostics in Europe: Where are we and what is needed?
18.6.2024 - The European Conference of the European Renal Association (ERA) took place this year from May 23-26 in Stockholm, Sweden. Under the title "ADTKD genetic diagnostics in Europe: Where do we stand and what is needed?"*, our patient organization was represented with its own contribution on the status of ADTKD diagnostics in Europe. The most important result of our study: There is a lack of comprehensive ADTKD-MUC1 diagnostics in Europe. The probability that there are still many undiscovered ADTKD patients in Europe is therefore high. You can find the e-poster here:
Our study in detail
Background and questions
The aim of our study was to survey ADTKD experts from as many European countries as possible to determine the extent to which the prerequisites for genetic diagnosis of ADTKD are available. We conducted an electronic survey using Monkey Survey. This was aimed at a total of 34 experts from 18 European countries (ERKNet expert finder tool). Important questions included:
- Are there laboratories in your country that perform genetic testing for ADTKD using panel/next-generation sequencing (NGS)?
- In the case of ADTDK-MUC1, the by far most common pathogenic MUC1 variant cannot be detected by NGS for technical reasons. This is the insertion of an additional cytosine (dupC) in a VNTR domain of the MUC1 gene. Is there a way to diagnose this frameshift variant in your country, e.g. using SnaPshot minisequencing technology?
- What do you think are the biggest obstacles to diagnosing ADTKD patients in your country?
Results
A total of 20 experts from 13 countries answered the questions.
MUC1 gene diagnostics are currently only available in 7 European countries:
- Belgium,
- Germany,
- France,
- Italy,
- Poland,
- Spain,
- Czech Republic.
An overview of all MUC1 testing laboratories in Europe can be found here.
There is no MUC1 genetic diagnostics in the following 4 countries:
- Netherlands,
- Ireland,
- Slovakia,
- Great Britain.
In the Netherlands, England and Ireland, testing is carried out in cooperation with the Broad Institute in the USA.
In the remaining countries, the situation is unknown, either because the experts did not know the answer (Sweden, Cyprus) or did not participate in the survey.
According to the experts surveyed, the biggest obstacles to ADTKD diagnosis are:
- Lack of awareness of ADTKD among nephrologists.
- High costs for diagnostics.
- Inadequate availability of genetic testing in general.
- Diagnosis of the ADTKD subtype MUC1 is perceived as particularly challenging.
Our conclusion
Diagnostics for the ADTKD subtype MUC1 are only available in about half of the countries surveyed. The risk of misdiagnosis or non-diagnosis is therefore significantly higher compared to other rare kidney diseases. We hope that the survey will help ensure that sufficient resources are made available for ADTKD diagnostics in as many European countries as possible, or that these deficits can be overcome through cross-border cooperation.
Outlook
The many discussions we had on site with experts, other patient representatives and exhibitors give us hope. We would especially like to thank Flavia Galetti (PKD International) and Susana Carvajal (FEDERG) for their great support.