What DNA testing can tell you about your health

This past November, I decided to do some research on my family tree for Christmas gifts. I bought the AncestryDNA kit, which happened to be on sale for about $70 at the time, and a one year subscription to Ancestry.ca so I could access historical records and their extensive database of user-created family trees.

What I discovered was definitely worth the cost and time spent poring over records, photos and information. The DNA test told me I’m 91% Great British (Scottish/Welsh/English), with a little bit of Italian/Greek, Scandinavian and European Jewish. I also found out my 6th great grandfather John MacColl was a key witness in a famous murder trial in Scotland in 1745, and was featured in the novel “Kidnapped” by Scottish author Robert Louis Stevenson (author of “Treasure Island”). (He was described as “a ragged, wild, bearded man, about forty, grossly disfigured with the small pox, and looked both dull and savage.” Sounds like we’re related, alright!) I also found out my 4th great uncle Hugh MacColl was a logician and wrote a few novels, which are on Amazon for sale.

I was also able to connect with a distant relative on my mom’s side who has the MacColl family bible from the 1800s, and another relative in New Zealand who sent me a ton of information and photos of my 3rd great grandparents on my dad’s side, who immigrated to New Zealand from England in the 1800s and owned a sheep farm that’s still around today.

My 3rd great grandfather on their farm in NZ

Aside from the wonderful sense of place and belonging I felt after finding out where my family is from and creating a record for each one of my immediate family members so they have that knowledge as well, the AncestryDNA kit let me download my raw DNA data so I could do some more digging. This time, I was interested in what my DNA could tell me about my health.

For a reasonable $5, you can upload your raw DNA data file from Ancestry or 23andme to Promethease to get a personalized health report you can search for various genetic diseases and conditions. Promethease works as a “literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.” It might be less user-friendly than the report you get 23andme.com (Ancestry doesn’t do health reports), but if you’re into data mining and knowing more than you probably want to know like I am, you’ll love the insight you get from the report.

Watch the video to see how it works!

After reviewing my health report from Promethease, I discovered:

  • I carry the red head gene and may be at a higher risk of melanoma (went to get my moles checked last week and one has to come off).
  • I’m at an increased risk of type 2 diabetes and arterial fibrillation (I have a family history of this so I wasn’t surprised – this is why I eat well and exercise!)
  • I’m at 3x increased risk of getting colorectal cancer from eating processed meat (good thing I don’t eat it often!)
  • I’m a fast caffeine metabolizer (so that’s why I can drink an entire pot of coffee and not feel anything!)
  • I have the longevity gene (Sweet!)
  • My muscles perform better during sprint sports than endurance sports (Really?? Maybe I should switch sports!)

Although I had to give myself a bit of a refresher in grade 10 biology (specifically on genotypes and alleles) to fully understand my results, the Promethease report was fairly easy to understand. Promethease pulls together a very comprehensive snapshot of your hereditary health – which could be a good thing or a bad thing, depending on what you want to know about your predisposition for potentially life threatening health conditions that you may or may not be able to do anything about. For example, you can search the system for specific genes (like the breast cancer genes BRCA1/BRCA2, the ApoE4 allele for Alzheimer’s disease, various genes associated with infertility, depression, etc.) to see if you’re at an increased risk for developing a particular condition, or if you carry a certain gene you could potentially pass on to your children. If a search result is outlined in red in the Promethease report, that means you have a bad mutation of that gene associated with a disease. If a search result is outlined in green, it might be a good mutation (like the FOXO3 gene for longevity). If you’re confused about your results and want more of an explanation, you can contact the Promethease team or a genetic researcher from their reddit page.

I hope I live to 100!!

Of course, for every bad mutation with an increased cancer risk (I had a few, but only 0.8% overall), you have to look at all the “good” genes that lower disease risks, as well as your past and current lifestyle. The report did give me peace of mind about a few conditions, and confirmed things I already know or suspect. I also like that anytime I come across an article talking about new gene discovery, I can go and look it up to see if I have it.

While knowing this kind of information isn’t for everybody and you have to take some things with a grain of salt, I think DNA tests and analysis’ with tools like Promethease are going to be the future of preventive health care.

I don’t know about you, but I like knowing all the cards I’ve been dealt so I can do everything I can now to live a long and happy life.

Have you ever done a DNA test to discover your ancestry or hereditary health? Do you plan to? Why or why not?