20 November 2020
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BBMRI.nl interview series: Dorret Boomsma

In order to showcase the variety of work in BBMRI.nl, we dedicate special news items to BBMRI.nl investigators. We ask them about their work for BBMRI.nl. What excites and challenges them the most, especially during the present COVID-19 pandemic? And how do they see the future for our activities?

What is your job title and what does your day-to-day job imply?
I am a professor at the Vrije Universiteit Amsterdam, in the department of Biological Psychology. I am also a KNAW (Royal Netherlands Academy of Science) professor.

Moreover, I am the founder of the Netherlands Twin Register, which I established in the later 1980’s and my main day-to-day activities focus on research in twin families, on teaching quantitative genetics and twin studies, and on writing my own papers and grants and reviewing those of others. I have meetings with my PhD students and  colleagues to discuss and evaluate our research and there are consortia related management and coordination activities. Presently I also try to devote time to a favourite project on the (epi)genetics of twinning. My ‘activities’ very much tie me to a desk and a computer screen. The positive side is, that I can attend a meeting in Australia which I may not have joined otherwise.

Dorret Boomsma, professor at VU Amsterdam

What is the focus of your work within the BBMRI.nl project?
My focus is on a number of collaborative BBMRI.nl research projects. The first was the Genome of the Netherlands (GoNL) in which 250 trio’s were sequenced. The trio structure refers to DNA sequencing in 2 parents and one offspring, except in a few families which the parents and 2 twins had their complete genomes sequenced. GoNl gave a detailed characterization of genetic variation across the different regions of the Netherlands and its data still are very much in demand.

BIOS (Biobank-based integrative omics study) created a large-scale data infrastructure for genetic (imputed SNPs), methylome (Illumina 450k array), transcriptome (RNA-seq), and phenotypic data on >4000 individuals from 6 Dutch biobanks. In OMICS.nl we bring together these data with an even larger set of metabolomics data across multiple platforms and biobanks.

Finally, Bionic (BIObanks Netherlands Internet Collaboration) realized a tool for online phenotyping in Dutch cohorts. The first phenotype we studied is major depressive disorder (MDD).  The online depression instrument that we developed was completed by tens of thousands of participants. Floris Huider, a new PhD student, started running genome wide association analyses on these data, aiming to identify genetic variants associated with depression, integrating with GoNL and BIOS data.

How does this relate to your other work/projects/activities?
I am excited about combining the power of the classical twin study with Omics data. We have applied a twin design to estimate the heritability of epigenetic and expression data, and across the metabolomics platforms and put all results in the BBMRI.nl atlas: bbmri.researchlumc.nl/atlas/#data

What do you enjoy the most about your work on the project?
Multiple aspects, that all have to do with the multi-disciplinary and great research possibilities in BBMRI.nl. We all come from different backgrounds, epidemiology, cohort and survey studies, genomics, transcriptomics, metabolomics and statistical genetics to name just a few. We have wonderful meetings and enrich each other’s research. The infrastructures created by BBMRI.nl enable collaboration across disciplines, uniting e.g. psychology, psychiatry, behavioural, molecular and life sciences.

What is challenging about your work?
If I am to name one challenge it is lack of time and the limited number of hours during the week.

What do you think is the importance of the project for the wider field of data sharing and health research?
BBMRI.nl projects have enormous impact. We received hundreds of data requests, that are processed in the data access committees and that have led to numerous papers. The results from these studies are also shared with the community through the online atlases such as the (epi)genome & transcriptome atlas and the medication, metabolite & disease atlases. They inform on disease aetiology in the Dutch population, on the genetic structure of the population, on causal inferences regarding gene regulation and the epigenetic profiles of e.g. ADHD or educational attainment.

What makes BBMRI.nl unique in your view?
Great science, colleagues, community building, ELSI support, sharing results and data.

Which BBMRI.nl product or accomplishment would you highlight as deserving more attention, and why?
The fantastic workshops that enable participants across different levels of expertise to work with OMICS data. All resources that need our continuous attention to keep them accessible.

How do you foresee the future for the BBMRI.nl activities?
We simply need to maintain and extend the resources and infrastructure we developed. Next steps will hopefully include enriching these, making use of the new techniques in biomarker and omics, combining and collaborating across infrastructures and create bridges between the life and social sciences, e.g. X-omics, BBMRI.nl, Health-RI and ODISSEI (the  Open Data Infrastructure for Social Science and Economic Innovations)

What newly emergent opportunities do you see as created by the present COVID-19 pandemic?
I  am curious to address basic questions in genetics, after we pull through the current pandemic. Last year, Abdellaoui (Hum Mol Genet. 2019) reported genetic variants for loneliness. Part of the human response to social isolation is influenced by our genes: in pre-corona times the heritability of feeling lonely was estimated around 40% (Distel et al., Behav Genet 2010). If we repeat the study next year, under completely different environmental conditions, what will this estimate be? John Cacioppo observed that loneliness can have beneficial and deleterious effects within a person’s lifetime, with the balance between the two influenced by environmental features. He predicted possible evolutionary advantages of loneliness. Is it possible that in present conditions lonely individuals fare better than others? Can we expect, given the positive genetic correlations of loneliness with depression and anxiety that allele frequencies for such genes will change? From an evolutionary perspective, a capacity for feeling lonely may have deleterious consequences for individuals under one set of circumstances but may evolve because of the important functions it serves under other conditions.