Here is some information for those who have received their genome sequencing results, have run some basic panels, like the free ones at geneticgenie.org, and do not know how to interpret all those results. These results could look a little bit scary if you don't know how to read the reports and are not familiar with genomics.
What those results give is only a predisposition to developing a problem. So, the nature vs nurture question, or if you prefer, your genetics vs your environments and life habits, still remains, whatever your genomics results are, for almost any condition. There are a few conditions, like pernicious anemia or cystic fibrosis, that are called Mendelian diseases, because they are linked to one single gene. So if you have this one single gene defect, which is often in males and on the Y chromosome, so that you have only one copy of this gene, then you have the disease. But for diseases and health issues in general, there are complex interactions between the 25 000 genes we have. You may have a gene that is frequently found in people who have a specific health issue, but you may also have another gene elsewhere that prevents this disease from manifesting. You may also have life habits preventing a disease to occur, despite you having a genetic predisposition for it.
So, you will find in your genes hundreds of mutations, but those SNPs are only probabilities. The science of genomics is not advanced enough to interpret the overall probabilities, considering all of your other genes. You have to check the clinical manifestations and exam results, to see if you really have the disease. For example, if you see you have a predisposition for a type of cancer, remember that we all have a certain chance of developing cancer, considering all the pollution, stress, and bad food there are in today's world. But no reason to worry if you have no sign of any cancer, and your annual blood tests are ok. Cancer is only a probability, not a certainty, even if you have some homozygous SNPs that is often found in people having a particular type of cancer or rare genetic disease or else.
I have tons of bad mutations in my genes, giving me some probability of developing various diseases. I surely do not have all those diseases! I have so many SNPs linked to syndromes that cause many severe birth defects and mental retardation in those having the syndrome... but, I never had any intellectual problems, and I am otherwise quite "normal" if this means anything at all... those SNPs did not translate into a real, manifested syndrome, for me. I have other genes that prevailed. Genomics is complex, and we are just beginning to dig this fascinating aspect of biology and health.
So, here is how to better interpret sequencing results:
- First, work with the diagnosis you already have, from doctors ( known diseases). You can go backward and find in your genome what SNPs predisposed you to these. For example, in my case, I do not see colors very well, in particular, red, so no surprise that my OPN1LW gene has many, many SNPs in it, and a few are known for being pathological. This gene is in very bad shape, compared to my average genes. ( to do such a search, you can search by "phenotypes", hence by disease, in
https://gene.iobio.io/ , so you can usually find the genes causing your known diseases... the more specific you are, the narrower results you get... If I had written "color blindness", it is too large and would have received too many results...by writing "protanomaly", my specific type of color blindness, then I get more accurate results, and fewer genes to check. Maybe, one day, in many years, there will be "POIS" listed in this app, and look for what SNPs are predisposing you to POIS.... ! )
- If you have symptoms and bad exam results not accounted for by your known diagnostics, go backward and seek what SNPs could be responsible for those symptoms, associating these to your symptoms ( but that is a lot of work, and no guarantee you will find anything significant, and you will still have to get confirmation with clinical exams)
- For all the other results showing probabilities of a particular disease, that you see in your reports (like the free reports available at geneticgenie.org), but that you have no symptoms for, just put them aside, mostly. Just take a look at the most pathological ones, and that has a low frequency in the general population. Then, if you someday develop a weird and unexplained symptom, you may come back to your genome results and possibly get an edge in identifying your disease ( with the help of your doctor, for sure.... genomics is not the same as a medical diagnosis)
- In addition to that, a simple search for how you absorb and manage the main vitamins could help you personalize your daily supplements. If you know you have a problem with absorbing or using a specific vitamin, then you can optimize your health by supplementing with this vitamin. You can do all the search by yourself, or run a test panel like
https://sequencing.com/vitamin-balance-dna-report ( quite cheap, and then you dig the results and see what is really of interest, by checking all the SNPs mentioned in your report). You can also run other reports as well, at least, the free ones, and some not so expensive. You can learn about what exercises are best for you, what food, and so on. After some reports, you will get an idea of what kind of information it can bring you. Personally, I did not invest a lot in those reports, I prefer to dig myself - there are a lot of free websites providing free resources - SNPedia, ClinVar, geneticgenie.org, Malacards, sequencing.com, and so many others, and of course the site of the lab from which you had your genome sequenced. But if this sounds overwhelming, paid reports are an alternative.
At any rate, if browsing your genomic results causes you too much anxiety, you should pay for the help of a professional, to help you look at them with more perspective, and in a more appropriate way. You will then get a sound interpretation, according to what is known so far.
