Genetic Genealogy

GEDmatch, raw data, and solving violent crimes with genetic genealogy

Kendra Nichols from abc27 News interviewed me about DNA testing, and we chatted a bit about the fine print you agree to when you submit a DNA sample to a consumer testing company.

Although it isn't named in the short news segment, a voluntary site created for genealogists called GEDmatch is the site law enforcement and others are using to solve crimes. Solving crimes has included finding suspected perpetrators and identifying victims (in other words, re-identifying deceased persons whose bodies were found and that police were previously unable to identify; these are referred to as John and Jane Doe cases).

DNA security: my thoughts in the wake of the Golden State Killer case development

The use of the genealogical DNA website called GEDmatch to solve a long history of crimes perpetrated by the Golden State Killer has a lot of people wondering, “Should I be concerned about the privacy and security of my DNA?” There is nuance to this question. One person who asks it might be asking whether a company might give away their information without permission. Another one might be more concerned about whether someone with ulterior motives could 'hack' the system at a company (or at an independent DNA sharing site) and take data not approved by customers or users.

Without getting into the weeds too deeply, my opinion on this in a nutshell is this:

Think of DNA security the way you think about credit cards. 

Some people opt out of using credit cards because they know of theft; it’s happened to them or someone they know. Or they are generally worried about it even if they've not yet been affected personally. Other people may weigh the risks of private information being stolen if they use a credit card (or other digital payment system like PayPal), but then decide the ease of using them is worth the risk. It has become culturally normal to use credit cards and online payment systems, and the risks are understood and accepted. 

It almost seems as if no one expects perfection in credit card security. So it is becoming for DNA testing as well.

There will always be a spectrum of how much risk people are willing to take, and that’s ok. We all are different and have had different experiences that attune us to what ought to be cause for worry. What concerns us is not the same as what concerns others. 

The reports of genetic information being 'stolen by bad guys' are non-existent at this point; however, law enforcement has tried to get genomics companies to turn over information, mostly unsuccessfully. The Golden State Killer case recently in the news was a situation in which the absence of laws and regulations around publicly-shared information about DNA matches meant law enforcement was free to use it in a way that helped them solve their case. This wasn't stolen information, per se, but few people who had uploaded their computerized DNA information to GEDmatch seem to have anticipated this use. Some are okay with it, some are not (and have reached out to request their data be deleted).

Are you okay with the use of DNA from family members by law enforcement to solve cases of murder and rape? There isn’t a right answer to this one, but we should still be asking it and discussing it.

What about DNA being held by private companies, like 23andMe and Ancestry.com? In comparison to third-party DNA sharing sites where 'user beware' is the expectation, genomics companies have it in their interest to keep your information as secure as they can -- their reputation hinges on it, in a way.

So they are trying, but in spite of all efforts including the employment of folks with titles like "Chief Security Officer", it might be possible in the future that their security fails. Or that they slip in some language into the terms of service agreement that gives them more freedom to use and share your DNA information than you fully understand.

So bottom line, do I think you should take a DNA test? 

You probably aren't surprised that my answer is the decision falls right back on you.

If you’re ok with the chance of your DNA being used in unique ways or in going farther than you imagined it would in order to answer other people’s questions, take the test. If not, testing might not be right for you. 

-Brianne

Interested in reading more about the Golden State Killer case and how genetic genealogy was involved? This blog post by genetic genealogy blogger Debbie Kennett compiles many relevant articles related to the case.

Want help in understanding the terms of service before you send in your DNA sample or share your computerized DNA file with a third-party website? I'm a licensed and certified genetic counselor, and "seek informed consent" is one of my mantras. Schedule a one-time session with me, and I'll be happy to help you go through the terms you're being asked to agree to.

Getting ready to spend time with some genetic genealogists

When I discovered an interest in genetic genealogy for my own personal/family purposes, I never imagined I would happen into a group as interesting and passionate as genetic genealogists.

Most people who become "genetic" genealogists start out as genealogists with no knowledge of DNA, genetic inheritance, or chromosomes. Over time, they gather knowledge about the science behind DNA and how the molecule links people together. Analyzing and comparing DNA between people (whether they are "family" that is close or distant) can fill in information and connect dots. It is only natural that consumer genomics and direct-to-consumer tests have made DNA testing commonplace in genealogical research in recent years.

There are a number of gatherings of genealogists each year -- too many to mention as genealogy has become the second most popular hobby in the United States, behind gardening.

For those with a special interest in the application of genetics to genealogy, there are a few special times when focused education is available in-person. The Salt Lake City-based SLIG course is one, and the Pittsburgh-centered GRIP course is another. Since I am East Coast-based, GRIP has been an easier location.

Some genealogy enthusiasts attend these courses to learn more about traditional genealogical research (i.e. non-DNA stuff). There are intro level courses and some for the advanced. These institutes have a little of something for everybody. 

I won't be attending GRIP for the full week this year as I did in 2016, but I am excitedly anticipating the one day I get to spend with CeCe Moore and the Advanced DNA course attendees. 

I look forward to that time together to present cases, explore questions, and learn as much (or more!) from attendees as they do from me.

Everything about the intersection of genetics, genealogy, family history, and health GRIPS my attention (ha! pun intended!). Each chance I get to improve the way I communicate about DNA is welcome.

Look forward to seeing some of you in Pittsburgh in a few weeks!

 

"We are more alike, my friends, than we are unalike"

My favorite Apple commercial of all time premiered during the Opening Ceremonies of the 2016 Rio Olympics. It portrays a montage of still images of humans, of various ages, skin colors, and cultures. The late writer and poet Maya Angelou offers a voice-over of select lines from her poem, Human Family (full version available here). Whether you are an Apple fan or not, the message is the point: Maya is and always will be a voice for humanity. At the end, she shares her final thoughts, so simply worded yet needed desperately in a world of 7 billion people, often hotly divided:

We are more alike, my friends, than we are unalike.
— Maya Angelou from "Human Family"

This poem and set of images calls to me, as I'm always seeking to find commonalities between people. It is what compelled me to work hard on a "matchmaking" registry of individuals with rare genetic variants while coordinating GenomeConnect at Geisinger Health Systems. It's what motivated my work to connect families in distress with support resources while working in a Maternal Fetal Medicine clinic in Indianapolis. It's what led to the creation of the graphic below, calling out similarities between those in my chosen profession (genetic counseling) and my chosen hobby-turned-secondary-profession (genetic genealogy).

GGGC2017

I updated the graphic recently, as the National Society of Genetic Counselors launched a new website making it easier for the public to learn what genetic counselors do and how we can help.

I hope you'll visit the rest of my website and then check out www.aboutgeneticcounselors.com.

Genetic genealogists are a small group, and genetic counselors even smaller.

But we all aim to be knowledgeable when it comes to understanding DNA and helpful to others who seek to incorporate a better understanding of DNA, and our place and our role on this lovely, precious planet. 

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

 

 

 

 

DNA & Genealogical Research Institute of Pittsburgh

The popular week-long Advanced Genetic Genealogy summer course at Genealogical Research Institute of Pittsburgh (GRIP) is upon us again! If "genetic genealogy" is a new term to you, check out this helpful source with info about a field of family history discovery that gains new participants daily.  

This year, Watershed DNA founder Brianne Kirkpatrick will attend the course, coordinated by genetic genealogist CeCe Moore (founder of DNA Detectives), and will present a session on genetic counseling to other attendees, alongside fellow genetic counselor Beth Balkite. 

Looking forward to it, GRIP-pers! We're excited to share about the profession of genetic counseling and brainstorm ways we can partner.