GeneChat

What type of Dr. do I need to see regarding mutations?


#1

I uploaded my raw dna from AncestryDNA. I see all the variances and have researched some of them. It seems like w/ this info, what is going on w/ my health and my family hx. ( I am adopted but I know my families and I have most of the hx. I need) that I would benefit from a professional reviewing all the above. Does this need to be a geneticist, or a integrative holistic practice? I do have MD’s I see for regular wellness, and to treat my autoimmune diseases. Thank you for any input in how to go from here.


#2

I can’t offer a simple and definitive answer. Assuming that you’re interested in better understanding your autoimmune condition(s) and anything that might be related specifically to those, you can begin compiling a list of the gene SNPs that are associated. You can: 1) just look at the standard variance report (though I don’t see a section on general autoimmunity); 2) load gene templates that you can run to get your genotypes for SNPs related (Search “Gene LIbrary”) or Browse or Search the Genome Wide Studies (GWAS) similarly, for a template that you can then install / run for your genotypes.

The question is what then? You can certainly present such results to your Doctor, but unless there is really new information / clues therein, it’s my experience that most M.D.s have neither the time nor inclination to do the further research & detective work that might, for example, suggest new treatment paths, etc. Some might instead refer you to a genetic counselor…and i have no opinion nor experience with same.

The question remains as to your objectives. If you feel that prescribed treatment for your condition(s) is inadequate, you can certainly become a better advocate for enhancing that. But again, it’s my experience that the patient must become their own advocate and, occasionally, ask about further tests (on the basis of a genetic report showing a nutritional / metabolic deficiency, for example), or about additional treatment options.

For example, I was able to learn that my own condition (genetic) was likely caused by or at least partly a function of metabolic dysfunctions of the folate (and other B vitamin) pathways; and that information helped my MD recognize the need to supplement with specific forms of B vitamins - which have indeed helped lower a blood marker associated with my condition.

All this does take time; but as I said, that’s our responsibility. We can’t expect the M.D.s to step far out of their operative / business model to dig too deeply into our individual cases. Think of it as a kind of “triage”.

That said, some doctors do work a bit out of the box… I have a “functional medicine” practitioner who spends a lot more time looking more systematically at illness/ wellness… but his type is quite rare. MDs who specialize in wellness may be more naturally oriented towards helping resolve such underlying issues, as well.

Lastly, as part of my own personal research, i’ve been using an Excel spreadsheet I developed, which has columns for various conditions, and rows reflecting various genes & SNPs from my genotyped data (also downloaded from Ancestry). As I discover associations between SNPs and health / disease conditions, I indicate that in the appropriate cell(s) under the various conditions associated (many if not most of these associations come from the GWAS database); and/or are documented in research papers. I can then just filter for hits among various conditions. The spreadsheet overall helps me keep the big picture in mind…, for as we know, oft-times conditions are linked to others.


#3

Have you heard of dr Ben Lynch? I would start with buying his book Dirty Genes…he does Facebook lives and he has a personal Facebook account and one called stratogene…ck them out🍀