This blog post is a place holder related to a conversation that started back in 2016 when someone wrote to me, as follows:
I read your blog regarding Hemochromatosis and decided to look further into the 23andMe test. They tell me that their test results do not report on HFE. Do you know if this is a recent change with their testing or am I missing something? Below is the email correspondence I had with 23andMe [not reproduced here]. Do current 23andMe test results show C282Y, H63D and S65C mutations? If so, where do I find this information in the reports?
The question was addressed to me because I had been researching hereditary hemochromatosis due to my partner's condition: hereditary hemochromatosis. This is due to a genetic mutation (HFE) which can cause the body to mishandle iron intake. This can lead to excess iron in your joints and soft tissue, an affliction known as iron overload. If not treated and managed, iron overload can cause permanent damage and may prove fatal.
We had both been early customers of the 23andMe genetic testing service. Back then it was possible to get information about one's HFE status (known by codes like C282Y, H63D and S65C). However, in 2013 the FDA took issue with 23andMe and censored access to this data. (Some of the background to this, from 23andMe's perspective, is here.)
In response the FDA restrictions, people found a way to extract the HFE data from the raw 23andMe genetic data (to which the FDA did not bar access). That was the situation in 2016 when I received the inquiry cited at the top of this article. However, in 2017, the FDA allowed 23andMe to resume the provision of HFE results (as described here).
The bottom line is that the set of instructions that I wrote up in 2014, documenting the workaround to determine HFE status from the raw data, is no longer needed.