V. (Vyne) van der Schoot, MD

As a clinical geneticist, I’m fascinated by concepts like informed consent, actionability, and severity. My thesis on unsolicited findings and my ongoing work on this topic provides me the opportunity to explore the realms of these concepts. Now working in the field of preconception and prenatal genetics, this fascination has drawn my attention to preconception and prenatal screening. 

Specifically, I feel the ambition to be able to engage the, for me, most important stakeholders in a dialogue on this topic, being patients and the general public. This has led to a great affinity for qualitative research and my quest to make other researchers aware of its value. 

I focus on qualitative research on exploring the use of and scope of preconception and prenatal testing and screening. Also, I’m still working on ‘my hobby’, being unsolicited findings in genomic testing, happily using the national network we have established during my PhD. 

After my study of Medicine in Maastricht, I was lucky enough to become a resident in clinical genetics in the Maastricht University hospital. During my residency, I wrote my thesis on unsolicited findings, mainly being guided by the Radboudumc. In the last year of my residency, I had the chance to have an internship at the department of clinical genetics in the Erasmus MC. I felt more at home than ever before and after given the opportunity to apply for a job, I couldn’t have been happier when I could start working at a clinical geneticist at the department. I finished my thesis in 2023 and have strong connections with the MUMC+ and Radboudumc still.

Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries.  Siermann M, van der Schoot V, Bunnik EM, Borry P. 2024 

Exploring uncertainties regarding unsolicited findings in genetic testing. van der Schoot V, van der Meer E, Hillen MA, et al., 2024 

 
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis. Diderich KEM, Klapwijk JE, van der Schoot V et al. 2023 

 
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing. Diderich KEM, Klapwijk JE, van der Schoot V, et al. 2023 

 
Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas". van der Schoot V, Damsté C, Yntema HG, et al., 2023 

 
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. van der Schoot V, Haer-Wigman L, Feenstra I, et al. 2022 

 
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study. Schoot VV, Viellevoije SJ, Tammer F, et al., 2021 

 
Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas. V van der Schoot, W Dondorp, J C F M Dreessen et al. 2019 


1 in 38 individuals at risk of a dominant medically actionable disease. Haer-Wigman L, van der Schoot V, Feenstra I, et al., 2019 

 
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. 

Stevens SJC, van der Schoot V, Leduc MS, et al., 2018 


Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. van der Schoot V, de Munnik S, Venselaar H, et al., 2018

I’m co-supervising a thesis on cardio genetics, focusing on unsolicited findings and the application of preimplantation genetic testing for cardiogenetic conditions. I supervised a few master theses on all my favorite subjects, always feeling closely involved in the studies. 

- Board member of the national working group for prenatal testing 

- Secretary of the national working group for preconception carrier testing 

- Secretary of the national indications committee for preimplantation genetic testing 

- Member of the national working group for unsolicited findings 

- Chair of the local committee on unsolicited findings 

Starting grant Sofia, Erasmus MC