Family Health History and DNA Testing

Diahan Southard

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Learn your family health history through DNA testing. These stories show just how vital information about your hereditary health risks can be.

My sister and I both live in different states than my parents. While we talk regularly and have a good relationship, we have recently realized that in order to find out important things about my parents’ health, we have to ASK. This past fall, after talking with my mom for about a half hour—just as we were about to hang up—she said almost in passing, “Oh, by the way, they found another spot on my back, I am going to have it removed next week.” This is the third melanoma spot she has had removed in the past 5 years.

It isn’t that my parents are hiding this from us, but they don’t want us to worry unnecessarily. I also think that it is part of our natures, to downplay our health, especially to those we love. We are always “just fine” and we “don’t need anything.” But as I have delved more and more into the shared space between genetic genealogy and genetic testing for medical purposes, one thing is very clear: it all comes back to family history.

Genetic family health mysteries

See, as science advances and we find out more and more about the specific genetic code that is responsible for various nefarious outcomes in our health, we learn that there is so much more in play than just our genetics.

For example, I recently read an article in the Wall Street Journal about a family who has been plagued with sudden deaths—ten in fact, in recent generations. Without warning, their hearts were stopping and no one knew why. That is, until Daniel Wiggins died suddenly at the age of 29 and his family sought out a molecular autopsy. Becoming more accessible to researchers as the cost of running these tests drop, molecular autopsies allow a scientific team to analyze the DNA of the deceased, looking for genetic clues to the cause of death. In this case, the genetic sleuthing was able to turn up the perpetrator: a mutation that alters the electrical signals in the heart, causing it to stop.

While this case was clear-cut and the gene was acting seemingly alone without an accomplice, researches of this disorder say that only happens in 20% of cases. Which means that this devious genetic criminal has other methods that we still haven’t tracked.

But for Daniel’s family this means they can pursue genetic testing to determine if this specific culprit is lurking in their own genes, and if found, they can take precautionary measures, like having a defibrillator installed to react should the perpetrator choose to strike. (Read more about Daniel’s story here.)

Gathering family health history

Recently, a family from Pennsylvania used their family reunion as a forum for gathering family history and genetic information to arm its members with an action plan against a plague of cancer that is sweeping through their family.

Several members of the Shaffer-Peterson family have discovered that a genetic test can alert them to possible pancreatic or skin cancer. Again, a gene affecting a very small number of melanoma patients was identified as the perpetrator of the Shaffer-Peterson family and has been given a 67% crime rate. (Meaning that the chance of developing cancer if you have this particular gene is elevated by 67%.)

Thankfully, melanoma is a particularly curable kind of cancer when caught early.

For both the Shaffer-Petersons and the family of Daniel Wiggins, these kinds of genetic tests produce actionable results to those testing positive. There is something they can do to positively impact their health once they are aware of the presence or absence of these genes in themselves.

But of course for most people, these kinds of tests are not available.

Not yet. And for those that are, there are hundreds of questions surrounding these kinds of genetic tests and the implications for both health and legal issues in our family.

Track your family’s health history

But the one common thread in all of this, again, is family history.

We need to know not only the dates and places of our ancestor’s lives and deaths, but also the stories behind them. Whenever possible we need to track our health history, so we can identify any trends that our DNA might be trying to tell us, and therefore be a bit more prepared for the future.

If you want to start tracking your own health history there are plenty of free online tools to get you started. This article from the Wall Street Journal has some great ideas for tracking your family health history.

While my mom’s melanoma is less likely to be the result of a genetic crime, and is more likely linked to the fact that as a teenager she spent hours lifeguarding at the local pool with her skin lathered in baby oil, the simple fact that she had melanoma was the sole reason I went to the dermatologist last year to have my own skin examined. The fairly blunt physician told me it wasn’t cancer, I was just getting old. But still, I am glad I went, and I feel like knowing my health history has made me a little more aware of my own health and the measures I can take to improve it.

DNA testing for genetic health risks

Here are options to consider for consumer DNA testing if you’re interested in your family health history.

  1. Take the 23andMe Health + Ancestry test. This is the only major consumer DNA test for ancestry that includes health reports (both MyHeritage and Ancestry have discontinued theirs). You’ll get lots of great health reports on specific topics. 23andMe doesn’t have tools to help you with your family history. So if you are interested in using your DNA test to build and extend your family tree (which can lead to more health history discoveries), also consider option 2….
  2. Take an AncestryDNA test* (or your results from MyHeritage DNA, Family Tree DNA, or Living DNA) and transfer the raw DNA file to Promethease. AncestryDNA has tons of built-in tools and options to help you build your family trees. Promethease is an extremely inexpensive website that will let you explore your DNA for segments known to be associated with medical or health issues of all kinds. Promethease is not easy to navigate and can be overwhelming for those who don’t aren’t very familiar or comfortable with medical terminology. (You may need to do some follow up research on your own.)

See full review of 23andMe and purchase test

See full review of AncestryDNA and purchase test

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<a href="" target="_self">Diahan Southard</a>

Diahan Southard

As founder and CEO of Your DNA Guide, Diahan Southard has been teaching people how to find family history answers in their DNA for several years, and she's been in the genetic genealogy field since its infancy. Diahan teaches internationally, writes for popular magazines, consults with leading testing companies, is author of Your DNA Guide–The Book, and producer of Your DNA Guide–the Academy, an online learning experience.


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