Irene van Langen

Prevention session

14.30-16.00

Profile

Prof. Van Langen was trained as a clinical geneticist in Amsterdam (AMC). There she set up the first multidisciplinary cardiogenetics outpatient clinic in the Netherlands in collaboration with prof. Wilde, (cardiologist specialized in genetic cardiac disease). During her years in Amsterdam, she combined patientcare in cardio- and neurogenetics with management, education of health care professionals (in training), and (heading) training of resident clinical geneticists. Her research focused on cardiogenetics and its ELSI (ethical, legal, social issues in genetics)-aspects, resulting in her PhD-thesis "Clinical genetic care in diseases predisposing to sudden cardiac death” in 2005. 

In 2009 she was asked to move to Groningen (UMCG) to become professor and head of the section of Clinical Genetics at the department of Genetics where annually 6000 new patients with (possible) genetic diseases and their relatives are diagnosed and counselled. Here she started a multidisciplinary (ELSI-)research group aimed at the responsible (and fast) implementation and mainstreaming of new promising techniques (e-health included) in clinical genetics and genetic screening. In collaboration with the CELS-research group of prof. Anneke Lucassen (Southampton, UK) research in both countries is currently being performed by five PhD students and two post-docs on topics such as implementation of expanded carrier screening, webconsulting, recontacting, patient related outcome measures (PROMs) in genetic counselling, and handling of variants of uncertain significance (VUS)/ incidental findings (IF’s). Prof. van Langen has authored over 200 peer-reviewed publications in the above mentioned fields. Since 2013, she is member of the permanent committee for population screening of the Dutch Health Council. 

Expanded carrier screening (ECS) offered by the GP: Results of an implementation pilot study 

Based on the results of an international expert meeting in Groningen in 2013, we developed and validated a population-based ECS-test for a limited set of 50 severe, early onset and untreatable autosomal recessive conditions. We adopted a couple-based approach where only couples can participate and the test-result is disclosed as a couple-result only. One in 150 Dutch couples are both carrier of one of these conditions. Carrier couples are referred to the clinical geneticist. If desired, prevention of the birth of an affected child is possible before and during pregnancy. Research among potential users clearly demonstrated an interest in this (at that time hypothetical) test-offer and also showed that the general practitioner (GP) was the preferred provider.  

In 2016-2017 we conducted a pilot implementation study where 13 GPs offered this (free) couple-based ECS-test, including pre-test counselling, to 5000 women aged 18-40 from the general population. We studied feasibility, uptake and its determinants, characteristics of test-offer acceptors as well as decliners and psychological impact. In general this ECS-test offer through the GP proved to be feasible, the uptake was sufficient and there are no signs that offering this to the population induces anxiety. Reimbursement and guideline development are now needed to facilitate general implementation of ECS in the Dutch population.