DNA testing and family medical history: a short intro for genealogists

DNA testing and family medical history: a short intro for genealogists

Genealogists are a creative bunch, and I love to read about the information they discover and record about family. Some genealogists track down death certificates and record the official cause of death for ancestors. Others learn medical history from living relatives and write that down. I quietly applaud when I read about someone finding and saving medical information on ancestors and relatives like this!

As a genetic counselor and genealogist, family medical history will always be an important in my eyes. This information is difficult to retrieve once relatives pass away.  

Happy Grandparents Day (with some interesting DNA facts thrown in)!

Each of us has two grandmothers and two grandfathers, genetically speaking.  

I'm a lucky lady to have two ready-to-greet me and serve me dinner and ruffle my hair whenever I head back to Indiana for a visit. Happy Grandparents Day to them today! 

My Grandma Mary and Grandpa Leland, now great-grandparents to an energetic brood of 17 great-grandkids, have been married since 1948. No one on Earth can make chicken and noodles like my grandma, and no one can solve a mechanical engineering challenge better than my "Mr. Fix-It" grandpa.  

            OMG, I have the cutest grandparents EVER! 

            OMG, I have the cutest grandparents EVER! 

They have passed down more to me than just DNA; they have also passed down their years of wisdom. 

My grandmother's marital advice at the time of my wedding was short and sweet: "Hang in there!"

That seems like sage advice but seems to have worked out pretty well for her so far! Wisdom imparted to me by my grandpa included learning how a toilet flapper works and how to change the brake pads on a car. 

The genetics textbooks I read many moons ago told me I should have gotten 25% of my DNA from Grandma Mary and from each of my other three grandparents as well. At the next generation up, that means I should have received 12.5% DNA from each of the eight people I know as my great-grandparents. For each "great" you add, the amount of inherited DNA from a grandparent is cut in half.

Modern advances in genetics (and multiple generations of families deciding to undergo consumer DNA testing) have allowed us further insight than biology textbooks alone. Some astute collectors of data in the genetic genealogy community have collated and compared information about the shared amounts of DNA between people with known relationships. These studies have allowed us to see just how close the textbook facts match reality.

Studies of shared DNA amounts between family have revealed surprises, one being that the amount of DNA we inherit from our grandparents falls into a wide range, instead of fitting tightly at 25%. 

Charts like that produced by the DNA Detectives and from Blaine Bettinger's Shared cM Project show us the range of DNA we share with a second-degree relative (a group that includes grandparents) may be more like 18-32%.

Second-degree relatives are a group that includes grandparents as well as grandchildren, half-sibs, aunts, uncles, nieces, and nephews.

We can give Mother Nature and the randomness of DNA inheritance thanks for that!   

If this topic interests you and you would like to read more, this fantastic post on The DNA Geek blog goes further into detail about the shared DNA between family members. 

Did you inherit more than just DNA from your grandparent? Did you have a grandparent who you may not have shared DNA with but who meant the world to you?

Leave a comment or story below about your loved one to celebrate Grandparents Day with me today!

- Brianne

Thoughts On Fighting Stigma, and the New Season of "Finding Your Roots" Starting This Fall is the website of Henry Louis Gates, Jr., a gentleman of multiple talents and acclaim, whom Wikipedia describes as an "American literary critic, teacher, historian, filmmaker and public intellectual". Getting asked to provide commentary for a blog post for The Root was a proud moment for me as a professional writer.

One of Dr. Gates' readers sent in a question to his website earlier this year, raising concerns about a romantic relationship between cousins. As a writer and a genetic counselor with specialization in genealogy/ancestry, I was happy to provide my professional insight.

The scientific perspective I took on this taboo topic was seen as a bit too compassionate and neutral for some readers. I received some flak but still stand by the response I posted on my blog shortly thereafter.

Apparently I am not the only one getting hate mail for writing publicly about controversial topics. The Internet has made a lot things great possible and easier (like in my own situation, being able to connect with other parents who have a child with Dyspraxia).

Unfortunately, the Internet has also made spreading hate and misinformation easier as well. 

Essentially, the message of my reactionary post was this: stigma is unhelpful and counter-productive. It often punishes those who completely innocent of any wrong-doing (children, for example), those who have no control over a life situation, or are at no fault. Stigma sucks. And haters be warned, just because you can use the Internet to share your thoughts does not mean you are right, or that the rest of us will listen to you.

Whether the original blog post and my response made any impact on those who do stigmatize others regarding the topic of "cousin couple" relationships, I have no idea. But it felt good to do my little part to fight back against those lurking in the corners of the Internet and casting judgment on people they do not know or understand. 

Thank you, readers, for tolerating my rant. Now, back to the reason I began writing this post in the first place! 

Dr. Gates and his team have created an amazing show Finding Your Roots which has received rave reviews over its multiple seasons. The fourth season of FYR is scheduled to air in fall 2017 on PBS (season premier October 3rd).

The show's premise? Genealogists and researchers track the family trees of a series of celebrities (writers, actors, politicians, musicians, and others). After the team has completed its research and compiled the guest's family history in a personalized "Book of Life", Dr. Gates sits down with his guest on camera (typically, two guests per episode). Together, Dr. Gates and his guest journey through the book, flipping the pages and learning the interesting stories uncovered about ancestors and forgotten parts of world history. DNA is a part of each show...but never "enough" for some people like myself!

Have you watched any episodes of Finding Your Roots in the past? Will you watch this season? Perhaps your favorite actor or politician or comedian will be featured this season. Check out the roster here



Debuting this week! YouTube videos to encourage sharing of genetic diagnosis of LHON in a family

Leber's Hereditary Optic Neuropathy is a disease that causes sudden vision loss in young adults. It's a highly disruptive condition which affects all aspects of living for someone who once had but  suddenly lost the vision that once provided independence, allowing them to drive, read, or decipher the faces of loved ones.

Many adults with LHON regain their independence by adapting to life with blurry central vision with the support of family, friends, and resources. Connecting with and learning from others affected by the condition has been key for many. 

LHON has a genetic cause based in the mitochondrial DNA that can be identified in most people with symptoms. Once a genetic diagnosis is made in a family, other members can be tested to find out risk. Early diagnosis means clinical trial enrollment may be possible, and for those to become affected in the future, increased treatment options are expected.

I've been working with Lissa Poincenot of the LHON Project for the better part of a year to try to help those with LHON communicate about the condition to other family members who may be at risk but not yet know. The result was two videos (posted publicly on YouTube; linked below) which I present to the audience at the annual LHON conference on June 30th. This year's conference takes place in Alexandria, Virginia. Shout out to Global Genes who provided support with grant funding to UMDF and LHON Project!

I'm hopeful for a positive response, and for feedback that will make other projects like this possible in the future. It's amazing to see genealogy and medical genetics coming together this way, and I feel so lucky to do what I do and be a part of projects helping other people, some of whom I'll never know or meet. 

Curious about understanding more about LHON? The videos YouTube videos are short, and you'll learn more about the condition. The LHON website and the LHON Facebook group are great resources as well.

Link to video for individuals with LHON

Link to video for reaching close and distant family





Time to get a GRIP again

Pittsburgh, Pennsylvania has been a bit of a DNA hotspot in the past few years.

The NSGC meeting of 2015 was in held in Pittsburgh. Each summer for the past few years (including last summer), genealogy gurus and gurus-in-training descend on the LaRoche College campus near Pittsburgh for a week of intensive classes. The institute is run by the Genealogical Research Institute of Pittsburgh, and more information is available at Finally, the University of Pittsburgh graduates a new set of genetic counselors each spring. Congratulations Robin Grubs, Andrea Durst, and your new graduates, class of 2017! Pitt has a very active human genetics department, offering up many degrees in genetics, in addition to their MS in Genetic Counseling.

The genealogy classes GRIP offers cover both DNA and non-DNA genealogy topics, but the special courses with a DNA focuses are always popular. There is an introductory course for DNA beginners and an advanced course for those wishing to fine tune knowledge and skills. 

The DNA classes of summer 2017 are full, but I have it on good authority that the waitlists are either nil or short and those on the wait list have a great chance of attending. So if you're interested, head over to online registration.  This link takes you to a description of the summer 2017 courses:  

I will present one lecture during CeCe Moore's Advanced Genetic Genealogy class in July. It will focus on practical advice for the genetic genealogist in situations that arise at the intersection of genetic counseling and genealogy. Following the lecture will be a period of discussion before class wraps up for the day.  

In 2018, GRIP will expand to include three sessions with one session taking place in Amherst, New York. 



DNA Testing Creates Two Things: Curiosity and Confusion

My recent booth experience at the National Genealogical Society was a combination of many things: 

Excitement. Exhaustion. Spurts of busyness separated by long sessions of thumb-twiddling.

My booth time was a learning experience above all else, in ways that will help me do my job better.

I have been informed I need "more color" at my booth which, TBH, is an entirely fair assessment! 

There were some great (and colorful!) booths at the National Genealogical Society with valuable information and fantastic products. Genealogical societies marketing memberships, record keeping companies offering new ways to save and preserve precious family heirlooms and memories. Even DNA testing companies (Hey, 23andMe, you were conspicuously absent! And it was noticed by meeting attendees...). 

Yup, a pretty drab booth. Next time I will bring party balloons and crepe streamers.

Yup, a pretty drab booth. Next time I will bring party balloons and crepe streamers.

In a few ways, my Watershed DNA booth stood out (confusingly). And I "get" that. I'm okay with that. Because my product is consultations.

Consultations are a bit nebulous. They are not tangible like a spit kit or a paper genealogy chart or a book about Virginian settlement history. Unless someone has consulted with a lawyer or a specialist or accountant, it's a little unclear what it means to "consult" with someone.  

Like the sign at the booth reads, I offer to clients compassion along with sound advice. My product won't sit on your shelf, but it may affect the rest of your life, or how you view your past. 

A book can't offer a listening ear when an adoptee explains she loves her adoptive mother and father to the core of her being...but still just wants to know what she is and where she came from.

A DNA testing company up can't offer unbiased advice or support to someone trying to decide between the testing options on the market.

Through a consultation, my clients leave understanding the differences between tests, and the limitations of using a consumer test for other purposes, like health risk information.

 I've learned that DNA testing creates two things: curiosity and confusion. 

This is where a Watershed DNA consultation comes in. I'd love to work with you to validate your curiosity, whatever its reason, and help replace your confusion with clarity and purpose.

The NGS conference only happens once a year, but I'm here in Virginia the whole year round, just a call or video chat away. 

Reach out through the "Contact Me" button on my page and tell me what kind of support you need on your DNA journey.

Good golly, it's time for Raleigh!

I am used to being surrounded by thousands of genetic counselors and physicians at Big Conferences. This week it is time to step out of my comfort zone. I'm EXCITED to experience a sea of thousands of family historians this week at the National Genealogical Society conference. Raleigh, NC, here I come.

What questions will attendees have? What will they find intriguing, exciting, daunting, and concerning? DNA is all the rage these days because...well...EVERYONE HAS IT. Call me biased, but I think it should matter to everyone! 

Genealogy and Genomics Take Their Vows

Read Brianne's guest blog post at DNA Digest today! This latest piece titled Genealogy and Genomics Take Their Vows includes a summary of genomics research projects engaging different aspects of genealogical discovery. This was written for the crowd already involved in genomics research, so there may be some lingo new to many readers new to the DNA journey.