What the Health? Using DNA & Genetic Genealogy for Health Reasons

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My mother, Carol Ann (Mandigo) Barth, 1971, in the traditional crinoline nursing cap.

The idea for this blog post has been on my mind for quite some time, but the recent loss of my mother has given me the push I need to put the idea into words through the sharing of my own experiences.

Many people use DNA and genetic genealogy to find parents, siblings, aunts/uncles, grandparents, and cousins, but there are a few of us out there who also use DNA results for medical purposes. I’m one of those people who, when researching ancestors, pays careful attention to the cause of death of each person. I look for common causes of death among ancestors, particularly within the same family across a single generation or that spans multiple generations.

Here’s an example of one such cause of death I discovered in my father’s biological father’s family: Cancer; specifically, colon cancer. My father’s paternal grandmother, Ida Mae Bassett, died of cancer of the colon, ileum, and abdominal wall. Additional research led me to discover that colon cancer also resulted in the death of at least five other first cousins on that side of the family.

That side of the family also has a history of other cancers as well, including prostate, kidney, and lung cancers. While it’s certainly possible that lifestyle could contribute to lung cancer, as it did in the case of my mother who smoked for 40+ years, I’ve yet to learn of a lifestyle choice that has been shown to have a direct link to colon cancer, prostate cancer, or kidney cancer.

There’s a company called Promethease which will analyze one’s raw DNA and produce a variety of health reports for a small fee of $12. Their official statement reads as follows:

“Promethease is 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.”

In other words, you’ll get a report based on your DNA what medical conditions or diseases that you may or may not have a genetic susceptibility of developing. I was very curious about whether or not it was just simply coincidence that several relatives on my father’s side had colon cancer, or if there was, in fact, a genetic link or predisposition to it. So, I uploaded my raw DNA file and paid the fee to have a report generated.

The first item that came up in the report was something called Lynch Syndrome. The screenshot below shows exactly how the information appears in the report:

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This immediately confirmed that there is a genetic component to the prevalence of colon cancers on my father’s side of the family. But, this was just one company and one report (along with just one side of my family), so I decided to search to see if there was another company out there that would analyze one’s raw DNA for health & medical conditions.

I found an iOS app (iPhone/iPad) called Genomapp. They claim,

“Genomapp is an app that analyzes your genetic test raw data to give you the maximum information of your DNA. We have the most extensive list of conditions from scientific official sources.”

They were reasonably priced (about $10) and had good reviews so I decided to upload the same raw DNA file I downloaded from Ancestry and have it processed by Genomapp to see if it yielded similar results to Promethease, or if the results were wildly different.

I personally found Genomapp to be much more user-friendly in terms of the overall look and interface. They broke down the results into the following categories:

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Each category is further broken down into probability ranges that are lower than the average, normal, and higher than the average.

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My results with Genomapp essentially mirrored those with Promethease. Not only is my genotype associated with familial colorectal cancer, but it’s also associated with several other cancers, including melanoma-pancreatic cancer, and hereditary pre-disposing cancer syndrome. And, the reports of both programs confirmed what I’d found in my traditional genealogical research.

Many people might feel a sense of ‘doom and gloom’ with these kinds of results, but for me, I consider myself fortunate to have a ‘heads up’ so I can be sure to discuss these findings with my primary care physician and together we can make sure that I get the necessary screenings associated with the aforementioned cancers.

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