Hi Joe,

YSeq obviously still offers these facilities. There, the cost of a panel is typically $100-$150, depending on size and, while the Y-12 test isn't offered as such, its approximate price would be about $50. So this figure of $150-$200 would be the approximate minimum that you're looking at paying for a panel plus Y-12 test at Family Tree DNA, were they to offer it. Once equipment costs are paid off, the main limitations for such tests are likely to be the cost of the physical bench space taken for equipment and human time spent developing panels and processing the tests. This is old technology, so the costs are likely to at best be stable with time.

Panels are a limited, fixed test. To come back and explore new sub-clades in the future requires a whole new test, so this strategy freezes the branching structure at one point in time and doesn't allow progress via the discovery of new branches. It also offers no recourse for testers who are shown not to be related.

Contrast this with the cost of a BigY-700 test with Y-111 included, which is on sale at $399, or roughly twice the price. While the headline price has decreased considerably over the years, this sale price has been fairly stable since not long after the original BigY test was introduced, so it looks like we are reaching the operating floor for costs here too, though it's worth noting that this represents a significant real-terms drop in costs given inflation.

Each test also has the potential to discover new sub-clades and identify private mutations. In the long run, would $3990 be better spent on 10 BigY tests or 20 tests with limited Y-12 and SNP panel tests? That's an open question, but FTDNA took the decision a long time ago to bet on the first option, since Y-STR and BigY are tests that keep giving in a way that panel tests don't. It's probably the right decision for most projects but, in more than one way, it is also why YSeq exists as it does today: to fill the market gap for the remaining few researchers. If the difference between $200 and $400 makes the difference between getting tested and not getting tested, then spending that $200 at YSeq instead of FTDNA is no bad idea. But in terms of cost per genealogical datum, BigY represents the better investment, especially in the long run.

Cheers,

Iain.

Hi Joe,

I wanted to pick up on a point you raised:

>And the technology has seemed to have stalled. Where are the new products development? I’m seeing window dressing, bells and whistles, but nothing as far as actual new products to help us be more precise with our projects.

What new products were you hoping for? Was there something specific?

I'm currently trying to update the "Futures" chapter of our textbook, so this is something I am looking at in detail and would welcome feedback.

In terms of autosomal DNA, the next major step is WGS. This is a possible route for genetic genealogy and Family Tree DNA to go down. However, no-one has really cracked the mathematical and computational problems of how to get genetic genealogy to work on WGS tests at scale. This is not really a case of "more SNPs are better", because that won't dramatically improve your knowledge of how many cM you share with another person. Instead, it's a case of significant research into fundamental principles that's likely considerably beyond FTDNA's capacity. In my estimation, WGS is going to need a thorough thrashing by major health initiatives (e.g. the 100,000 Genomes project) for many years before the techniques are ready to be applied to genetic genealogy. So Family Tree DNA can start offering WGS products, but there isn't yet the theoretical support for using WGS for genetic genealogy.

In terms of Y-DNA, the only place left to go is longer reads. Here, it's a question of how much you are prepared to pay for the technology. We're already reading about 25% of the Y chromosome in BigY. Incremental updates to 40% of the Y chromosome can be made, but at the cost of about $100 per percent - this could be done, but too few people would pay for it to make it cost effective. The cost of going from 40% to 100% of the Y chromosome is currently measured in millions (i.e. the research costs of the T2T consortium). So it seems to me that we are stuck with BigY-700 as the best at-scale commercial test that can be obtained, at least for a few years until this ultra-long-read technology becomes commercially viable.

Until then, the main progress that can be made is largely going to be in the "window dressing". While far from perfect, the Discover project, with its variety of tools, has represented a major step forward for FTDNA in terms of supporting its customers and helping them get to the bottom of their data.

Consequently, as far as FTDNA's product development goes, I don't see what advanced products they can really develop at the present time. Perhaps there are more intermediate products that could be developed, but I can't identify anything that would be cost effective. Of course, I'd be happy to be proved wrong! :)

Best regards,

Iain.

Hi Ian,

While I'm not an expert on the testing technology, I can attest to the substantial drawbacks of chip assays for Y-chromosomal SNPs in terms of reliability, scale and comparative value.

The haplotree currently encompasses around 663,000 variants. The coverage of typical chip-based autosomal tests (Family Finder, Ancestry, etc.) is about 300,000 variants. While it's possible to get many of the SNPs on such a chip, having a chip for the entire haplotree is not practical.

The second issue is reliability. Individual SNPs on chip-based tests don't have the same per-locus reliability as STR or sequencing tests, as anyone who has dealt with the Nat Geo tests will attest. Consequently, like ancient DNA results, you need multiple positive indicators for a haplogroup. This means that the results from a chip-based test at that scale would be just as "arcane" as the data from BigY tests, due to the necessity to track and quality control each SNP independently.

Back in 2014-2016, when BigY was in its infancy and the formal haplotree didn't exist, Family Tree DNA toyed with chip assays of 160 SNPs, which had sufficient reliability. These were developed by FTDNA in co-operation with our and other haplogroup projects. However, they proved not to be cost effective in the long run as the price of a BigY test dropped and have been pushed into the testing background.

There is also a legacy advantage of the Y-STR tests in being able to compare to a wider pool of testers, who have not taken Y-SNP tests. Relatedness (e.g. TMRCA) can be estimated much more accurately with two Y-37 tests than it can be with chip-based Y-SNP testing that gets you even to a 2000-year-old haplogroup, never mind something as coarse as R-Z18.

Despite this, there are advantages to finding new testers via these coarse haplogroups, and identifying the Y-DNA haplogroups of potential matches at Ancestry and other DNA sites is important. We already know that FTDNA are intending to release Y-DNA haplogroups of Family Finder testers, so essentially there is a step towards a product like you envisage. However, that's likely as far as these kinds of tests are going to go while remaining cost-effective. Most indicators point to cheaper and/or wider sequencing tests being the medium-term future of genetic genealogy.

Cheers,

Iain.