There seem to be a lot of "genetic consulting" services that focus on things like cancer, with a modus operandi of:

  1. Do targeted gene sequencing (usually on a few tumor suppressor genes related to cancer the customer is at-risk of)
  2. Analyse the respective data and compile a genetic report outlining risks

The few analyses that I've seen around WGS compared to targeted sequencing claim fairly high accuracy of WGS, including on tumor suppressor genes, sufficient that I wouldn't worry about it, given that TGS will also have some degree of error. So it seems to me like there's little point in using a targeted approach compared to WGS nowadays, given that I can buy a 100x WGS for 1k and some of the targeted tests cost upwards of that.

The other question would be whether the clinics have any "specific" data. I doubt this? I've not heard of a lot of closed-source genetic data, besides maybe that of pharma research companies on a few niche topics. So it seems like a Promethease report could match whatever a specialist would be doing here... or even just searching the variants of concern on clinvar.

Is there any reasons I'm missing why these services still exist? Is it just consumers being misinformed? Or am I glancing over some big problems or benefits?

I guess this might be a bit of a silly question, but hopefully the answers to this will help me elucidate some underlying questions about applied genetics.

  • $\begingroup$ Leading question that may help you self-answer: you mention the depth of WGS, but what depth does targeted sequencing (such as these genetic counseling services provide) usually have? With what frequency would you expect to see mutations implicated in cancer risk? $\endgroup$ Jun 12 at 20:44
  • $\begingroup$ The frequency itself depends since we're not talking single base mutations, the depth for most targeted sequencing offers I could find is unspecified. $\endgroup$
    – George
    Jun 13 at 22:11


Your Answer

By clicking “Post Your Answer”, you agree to our terms of service, privacy policy and cookie policy

Browse other questions tagged or ask your own question.