Sequencing my own genome: Overview on direct-to-consumer whole-genome sequencing services

During my PhD, I analyzed thousands of pseudonymized genomes, spanning short-read sequencing and genotyping arrays, and searched for associations between genotypes and phenotypes. I left this field in 2020, but the desire for a personal “map” remained. Recently, I decided to have my own genome sequenced to explore the practical utility of personal genomics and to see how far the field has advanced, from new associations to polygenic risk scores.

My Contribution to genetic discovery

During my PhD, I learned how difficult it is to extract reliable signals from genetic data. As a bioinformatician, I was involved in a genome-wide association study (GWAS), where I planned and performed the in silico analyses. We were able to identify a new association at the gene locus SIGLEC5 with the risk of aggressive periodontitis, a rare, severe, early-onset form of the disease, even though the cohort size was too small for the real effect sizes of common variants (Munz et al. Hum Mol Genet. 2017). Subsequently, the SIGLEC5 locus reappeared in a significantly larger meta-analysis combining periodontitis and proxy phenotypes (Shungin et al. Nat Commun. 2019). It was the only risk locus that achieved genome-wide significance. This independent validation confirmed that I had worked correctly in my analysis and quality control, which I believe are important cornerstones of good science, and I am still very proud of that today. This is particularly true given that many signals initially observed in smaller cohorts cannot be reproduced: sometimes because they are false positives, but also because the actual effects are smaller and the initial effect sizes are exaggerated by the “winner’s curse”, as well as due to the heterogeneity of phenotypes (Zou et al. G3 2022).

Why now?

Pricing

Traditional direct-to-consumer (D2C) genetics from companies such as 23andMe used to mean a predefined selection of genetic variants measured using genotyping arrays, but no true whole genome sequencing (WGS) and research-grade sequencing was too expensive for private use. Today, 30x WGS is available through D2C for around 300 € per genome, and many services allow the raw data to be downloaded. Going through research laboratories (e.g., Eurofins CeGaT) is not a real alternative: these companies primarily offer business-to-business (B2B) services and are optimized for institutions. For example, samples must be sent in as EDTA blood or isolated DNA, which is hardly feasible for private customers.

Privacy and ownership

Data protection and property rights are also now more clearly defined than before: since 2018, genetic data in Europe has fallen under a special category in accordance with Article 9 of the GDPR. The processing of such data is generally prohibited unless one of the conditions in Article 9(2) applies (for D2C services, this is usually explicit consent from the customer) and there is a lawful basis under Article 6; disclosure and cross-border transfers require a valid legal basis and transparency. Since 2022, in vitro diagnostic tests marketed for health or medical purposes, including D2C genetic tests with health claims, fall under the EU IVDR framework and related guidance, which requires CE marking, risk classification, performance evaluation (analytical and clinical), quality management, and post-market surveillance. This is particularly relevant now, as recent events involving 23andMe have highlighted potential risks associated with the sale or sharing of genetic data ((New York State Attorney General, Reuters, AP).

D2C WGS services

The following table lists D2C WGS services that publicly list prices on their websites and accept saliva samples. For a broader, albeit outdated, catalog, see whichgenome.com.

Company	Location (Primary law)	Price for ≥30× WGS	Raw data download?
tellmeGen	Spain (EU / GDPR)	299 €	Downloadable as Fastq or VCF
Dante Labs	Italy (EU / GDPR)	Starting at 399 €	Downloadable as Fastq, BAM or VCF
DNA Complete (Nebula Genomics)	USA (US law)	Starting at 495 $	Downloadable as Fastq, BAM or VCF
Sequencing.com	USA (US law)	Starting at 399 $	Downloadable as Fastq or VCF
YSEQ	Germany (EU / GDPR)	Starting at 399 $	Downloadable as BAM

Conclusion

I chose tellmeGen because of the reviews and prices. By using the coupon code “HALLOWEEN10,” I was able to reduce the final price to 260.10 €. The kit is already on its way back with my sample. I hope the sequencing doesn’t take too long, and I’m looking forward to exploring my own genome.