

by David Hinds


What is family history risk assessment?



What is SNP-based risk assessment?



What did the study show?


What does this really mean?





Where do we go from here?


  • Keith Grimaldi

    I came to similar conclusions –

    There are so many problems with the study that I missed plenty of them.

    1. First there is no actual result! So FH detected 9 at high risk of hereditary colon cancer and their own gene test for the rare mutations detected the mutations in 5 people while the Navi test didn’t detect any (of course not, it did not look for them). So the question is, of the 9 how many would actually develop cancer? would it be all 9 detected by FH or would it be just the 5 detected by their followup gene test? How does this study, without a proper end point, determine that FH is the gold standard? Actually it is worse, the end point is predetermined to be whatever the FH result was!

    2. A proper study would put FH against genetics for the remaining 97% non-rare cancers where it is noted that genetics classified individuals as raised risk while FH did not – need some long follow up here

    3. What is really the gold standard? The FH they used was not a simple 20 minute tick box, it was a detailed project involving the patient contacting many family members over a period of time. Not a quick and simple process, no wonder that this rigorous method is hardly ever used by doctors. There is an argument that says it is not worth using BRCA or MMR gene testing on the masses to pick up the rare cancers, so what is the situation with FH? Should the masses be encouraged to detail their FH? Should an army of clinical geneticists be employed to survey the country? Or maybe it would be more cost effective (and actually more effective and accurate) to screen the masses with a panel of all the rare highly penetrant cancer mutations? If not I don’t understand what was the purpose of talking about FH in this context anyway.

    These are false battles that are being constructed, there is no genetics vs. family history or genetics vs. traditional risk factors. There is simply the need for research to determine the appropriate use of all three

  • DavidH

    I agree that it is a false battle. I should also point out that 23andMe has a relationship with InformedDNA to give our customers access to genetic counseling services that can provide family history risk assessment to supplement our personal genomics risk assessments. We collect some family history information in our health surveys, and we hope to be able to provide more comprehensive risk assessments as the science for doing that matures.

  • rr

    Wouldn’t it make more sense to gauge the additional value each approach adds to the other as opposed to viewing them as competing alternatives? At some point it will come down to cost calculations and here PG will approach $0 asymptotically while FH will surely not. So then one might anticipate PG scanning for all and FH for the one’s at risk.

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