Updated Thoughts on My Genomics Results

I have notes on GitHub, but they are mostly within subfolders and may be a bit messy for some people to read.

The repository has been called "DTC" for "Direct To Consumer" genomics.  However, many of those results had an on-line physican.  At a genomics conference, I heard to term "Patient Initiated Testing" to be more precise and cover those types of results.  So, that is why I have tagged the posts with the term "Personal PIT Experiences."

So, I have some thoughts on the topic of genomics results that are already available to the general public.  I realize that some of these may give the reader an overly negative impression.  However, I want to emphasize that a fair presentation should include both positive and negative perspectives, and I have tried to do that (or at least describe possible solutions to potential problems).

• Digging deeper into my cystic fibrosis carrier status
• Concerns About Using Low-Coverage Sequencing for Trait or Health Results
• Human low-coverage sequencing is mostly OK for broad ancestry and relatedness
• My genome-wide, broad-level super-population ancestry is robust, but I observed some false positives in smaller or specific segments
• Emphasis on "hypothesis-generation" for supplement recommendations
• Please take time to critically assess anxiety-inducing results
• Predicting HLA types for array and high-throughput sequencing data

In general, I have genomics / medical data publicly available to download on my Personal Genome Project page (for hu832966) and I have what I would consider a partial electronic medical record on my PatientsLikeMe page (however, I think you have to sign in with a free account to view my profile).

With all of that being said, I want to end on a positive note: among all of my notes, I think Genes for Good is something more people should know about.  They don't really provide as much interpretation about the traits / disease, but they have multiple types of whatever they provide (such as different formats for genotype files, with and without imputation, as well as different ancestry results with somewhat independent methods).  I think this is really great, so you can critically assess your data/results and develop your own opinion (to try and decide what is the most fair representation of the various possible interpretations of your data that can exist).

Change Log:

8/4/2019 - public post date
8/5/2019 - minor changes
8/19/2019 - change title for lcWGS health / trait result (after Twitter DM feedback)
8/21/2019 - add "human" to title for positive lcWGS post
9/16/2019 - change title to emphasize "my" for ancestry result
2/4/2020 - further change title to emphasize "my" for ancestry result