Wednesday 19 February 2020

30x whole genome sequencing from Nebula Genomics for $299

The cost of whole genome sequencing has been slowly coming down to an affordable level. Dante Laboratories had a special offer on their direct-to-consumer (DTC) whole genome service (WGS) in November 2018 when the test was priced at €169 (£150 or $199). They now offer a 30x whole genome test for €289 (reduced from €599). 30x refers to the coverage of the test  the number of reads at each position. 30x is now the standard coverage for medical purposes. Dante are based in Italy and initially focused on the European market but now sell their test globally. They had sequenced over 10,000 genomes by the end of 2019 and are currently processing 600 to 700 genomes per week.

DTC whole genome sequencing has also been offered for several years by Full Genomes Corporation though they no longer sell their tests in the European Union. FGC offer a range of tests at different coverage as well as a long-read whole genome test for $2900. A range of DTC WGS tests is also available at varying levels of coverage from the German company YSEQ. The British company SanoGenetics launched a DTC whole genome sequence test priced at £950 at the end of 2019 with an emphasis on data security. They hope to provide access to genetic counsellors, a doctor and good links to the UK's National Health Service but it is likely to be more than a year before they are in a position to deliver on this promise.

The market is now hotting up with the announcement that Nebula Genomics have launched a new 30x whole genome sequencing service for $299 (£231 or €277). The Nebula product will be available in 188 countries. Nebula are based in the US with offices in San Francisco and Boston. The sequencing is currently being done by BGI in Hong Kong. Nebula have partnered with FamilyTreeDNA to provide an analysis of the Y-chromosome and mitochondrial DNA sequences which are included with the service. The following information about the Y-DNA and mtDNA ancestry analysis is provided in Nebula's FAQs.
It is not clear how the transfer process will work but I presume that the sequences will be uploaded to FTDNA's BigY database and mitochondrial DNA database in order to receive genealogical matches. I suspect the promise of additional ancestry reporting will be in the form of an option to transfer a Family Finder-compatible file to FTDNA's autosomal DNA database.

On top of the cost of the testing it is necessary to pay a subscription for access to Nebula's reports which are updated on a weekly basis. You can choose a monthly, annual or lifetime subscription.

It doesn't seem to be possible to order a test without paying for a subscription so it appears that you would have to sign up for at least a single subscription for one month once you have received your results.

There is further information about Nebula Genomics in this article from OneZero.

Whole genome sequencing is not likely to be of interest for the average genealogist in the immediate future. To use a WGS test for genealogy we would need to have a WGS database so that we can be matched with our genetic cousins. No such database currently exists though I suspect it's only a matter of time before an enterprising company decides to take the initiative and set up a service. For now WGS is likely to be of most interest for genealogical purposes for the Y-chromosome data to see how the sequencing compares with other sequencing products such as FamilyTreeDNA's BigY test. WGS will also appeal to advanced genetic genealogists who like manipulating and playing with big data files. For example Louis Kessler, a genetic genealogist with a background in computer programming, has purchased a number of WGS tests and has had great fun analysing the files out of sheer scientific curiosity.

None of the major genetic genealogy companies currently offers a WGS test but I suspect it's only a matter of time.