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"

GGGC2017

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 helped me connect families with support and information while I worked in a Maternal Fetal Medicine clinic in Indianapolis before that. It's what drove me to create the graphic above, pointing out similarities between those in my chosen profession (genetic counseling) and my chosen hobby-turned-secondary-profession (genetic genealogy).

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 and mighty when it comes to understanding DNA and helping others and ourselves incorporate it into the understanding of our place and our role on this lovely, precious planet. 

"Base Pair" series kicks off with Deepti and Sajid!

Learning how those in my profession of genetic counseling were drawn to the field interests me. There aren't too many of us -- around 4,000 genetic counselors practice in the United States, and a modest amount work outside of the US, often seen spelled with two Ls in counsellor.  

Each story of a GC's path to their professional niche is unique. 

TWO genetic counselors in one family piques my interest further (rare squared!). 

A fellow writer and genetic counselor Deepti Babu and her husband Sajid Merchant are one of the rare husband/wife couples in the field of genetic counseling. I decided to interview Deepti and Sajid and learn how there came to be two of them! Thank you for sharing your story, Deepti and Sajid. I enjoyed hearing your story, especially the part about the bed-and-breakfast host who took notes about you on her index card and later tried to be your "matchmaker". Sounds like your story was meant to be.


deeptiandsajidBasePairs

How did you get interested in counseling?

 

Sajid: During my fourth year of undergrad, my professor gave us a pamphlet on careers in genetics. It was a full two pages, but back then only had a tiny blurb on genetic counseling. It still caught my attention because it called for expertise in genetics and psychology, and my background was in genetics, psychology, and philosophy (ethics). However, I continued with my plans and started graduate studies doing research but felt like something was missing… my suspicions were confirmed after coming to the lab after a holiday long weekend. My lab colleagues were excitedly going on and on about something… we were all twentysomethings, so I figured they had a killer weekend of partying or something. Instead, I discovered they were thrilled about an experiment where a worm successfully flipped one way versus another! When I realized that I would never be excited about something like this, I decided to pursue what I loved. I was already volunteering at a few spots, including counseling, so I remembered that pamphlet and thought genetic counseling could work for me.

 

Deepti: Interesting, I guess we found out about genetic counseling at the same points in our lives! In my senior year of undergrad, a genetic counselor came to a Bio class to speak about her career. This was 1995 and I had absolutely no clue what she was talking about! I mentally filed it away under “interesting” and left it. I took a year off after graduating to decide whether to try for medical school a career in research (I’d already nixed culinary school, although I’d still like to go in my next life). I moved across the country to take a lab research assistant job in Tennessee, where I knew nobody. I learned a ton, including an incredible recipe for cornbread and that pursuing lab-based research was not for me. Somehow, my mind recalled that genetic counselor’s presentation and I contacted a local genetics clinic to shadow and learn more. It just went from there.

 

Did you learn about genetic counseling from someone in your family, or did you influence someone in your family to attend school for genetic counseling? How did that all come about?

 

Sajid: My family are largely actors, artists, musicians, and lawyers. The few “science people” or people in the medical field are a bit like the black sheep. So no one influenced me to apply to genetic counseling programs except my de facto second mother, a dear family friend, who pointed out that my background was ideal. I’m pretty sure a part of my father still thinks I should have gone into computers – the wave of the future – and encouraged me to take a Fortran programming course instead of philosophy during undergrad. However, as they have always been, my parents certainly were supportive once the decision was made!

 

Deepti: I think it was helpful that time passed between when I heard about genetic counseling and when I applied to training programs. There’s so much that you process when you’re not thinking about it! This time also allowed me to get solid exposure to the genetic counseling field before applying (because it’s not for everyone). No one in my family had a clue about genetic counseling when I was applying to programs – it was blank stares all around. My parents, both physicians, got behind it when I explained it to them (pretty remarkable, since much of it was taken on faith).

 

How does having a common profession influence topics of conversation and discussions during family gatherings?

 

Both: Probably like other couples in the same profession, we take shortcuts when talking about our work and share newsy updates with each other. We were fortunate to work together (in independent practices) in the same clinics for the first 15 years of our careers. It was awesome to have our most trusted colleague right there as a sounding board! Our sons (11 and 7) likely hear more about genetics and DNA than their peers – after all, they have been collecting CEUs all their lives by attending genetic counseling conferences, many even in utero! We figure that, at this point, they should have enough CEUs to recertify?

Sidenote by editor: Genetic counselors are expected to stay up-to-date and earn credits or CEUs for attending educational lectures or participating in other types of ongoing professional development. There is always something new to learn, making it a fast-moving and exciting profession. 

 

Have you received any surprising comments from having two genetic counselors in your family?

 

Both: Anyone that knows about the genetic counseling field’s demographics is usually intrigued, and those are often fellow genetic counselors. Most others think it’s interesting, but not super exciting – it’s like having two of any other profession in a family. It’s possible many people are trying to figure out what a genetic counselor even does in the first place, not how there are two of us in the family. We think it’s pretty cool, though, and Sarah Lawrence even wrote an alumni newsletter article about us, their first genetic counseling couple to graduate from the training program!

 

How did you meet?

 

Both: We were classmates in Sarah Lawrence College’s (SLC’s) genetic counseling training program and we’ve been a base pair ever since! Somehow, we both stayed at the same bed-and-breakfast when we interviewed at SLC. The host, a very (overly?) friendly and helpful woman, wrote down information about all her guests on index cards. Deepti stayed with her first; when Sajid stayed, the host got excited because another guest had recently stayed with her for the exact same reason. In fact, she enthusiastically pulled Deepti’s index card out – yep, with all her demographic details – and gave it to Sajid. Despite the fact that she’d just made a major confidentiality breach (we can just imagine the genetic counselors cringing as they read this), the host thought we’d get on well and wanted Sajid to reach out to Deepti. Bored while waiting to fly home from his interview, Sajid drafted a letter to Deepti but never sent it – his common sense finally kicked in and he realized it would be creepy. But, as fate would have it, we met at school and immediately hit it off – in fact, our classmates took bets on how long it’d take for us to start dating. For the record, Sajid was the only man in a class of 22 – people joke that he joined the field to meet women, but he got his Master’s and met his future wife in the program… not bad, eh?

 

More about Sajid and Deepti: 

 

Sajid Merchant, MS, CGC is the Lead Genetic Counsellor for the Edmonton Medical Genetics Clinic and Assistant Clinical Professor in the Department of Medicine and Dentistry at the University of Alberta, as well as a past President of the Canadian Association of Genetic Counsellors. Sajid earned his Master's in Human Genetics/Genetic Counseling from Sarah Lawrence College in 1999. He is particularly interested in the delivery of medical genetic services, the ethics of genetic counseling and testing, inherited blood disorders, and enjoying good beer and chocolate (both dark, of course).

 

Deepti Babu, MS, CGC, is the Vice President of Communications and Patient Advocacy at ThinkGenetic, Inc. and incoming Director-at-Large with the National Society of Genetic Counselors. She earned her Master's in Human Genetics/Genetic Counseling from Sarah Lawrence College in 1999. Her 15 years of working with families with genetic conditions infuse her writing, editing, and communications work and numerous volunteer projects. She is also often poring over cookbooks, being grilled by her sons on superhero factoids, or writing about her family’s foodie gene on her blog.

Do you know of a genetic counselor "Base Pair"? Encourage them to contact me through my website, and perhaps you'll see your friends or colleagues highlighted in a future post!

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

 

 

 

 

"All of Us" is starting

I wrote about the "All of Us" study once before (here) and plan to continue with the updates.

In only one year since the announcement of its launch, the project has gone from an idea to having already registered Participant #1! Excellent work, those at the NIH and all of the partner centers. I know that was no easy task!

The project is in its "beta" phase, meaning the basic infrastructure is in place and a few people have been let in the door to see how the system is working. Tweaks will continue forever for any big project, but this is Major Tweaking Phase.

Interested in following this project? Learn more details here at the project's website and check back on the Watershed DNA blog.

 

 

 

Raw Data: What is it?

You know that phrase "No moss grows on a rolling stone"? I think the world of consumer genomics is best considered as the rolling stone that will never find an end.

Much has happened in the consumer genomics world in the past 8 months since I published a video on YouTube to explain "raw data" and its uses, benefits, and limitations.

It could use some updating, but the basic messages are unchanged: 

1) You can get more than you bargained for when you hunt through your raw data.

2) You might go through a period of confusion before you have a sense of clarity again.

3) You can contribute your information to research and help future generations.

4) No two people will have the same experiences or emotional reactions to downloading, uploading, and uncovering information from a raw data file.  

5) I am here as a resource.

Before you take your raw data out of your ancestry testing account, please consider stopping and watching this video: "DNA Raw Data: What is it?"

Reach out for a one-time consultation with me, before you make the download or after you've used a tool to sort through your raw data and have gotten back a report. I don't mind chasing a rolling stone with you! It makes for an interesting and enlightening journey, for sure.

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 www.gripitt.org. 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: http://www.gripitt.org/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. 

 

 

It's time for a #Twitterchat with the NSGC Digital Ambassadors

twitterchatlogo

Countdown has begun. 7 days until Twitter gets a hefty dose of passionate genetic counselors sharing about what drew them to their calling. You can follow the discussion live next Thursday, or you can follow me on Twitter @GCBrianne to catch up later. 

Tweeters, follow using the hashtag #NSGCGenePool.

A hashtag is what we used to call a pound sign back in the olden days. Sheesh! My DNA can barely keep up with all of these changes going on in the world! 

Need help fighting the urge to open your Alzheimer's disease risk report?

Fighting the urge to find out your APOE status from a 23andMe genetic risk report is impossible for some. Even with multiple layers of warnings a customer goes through to be able to view the report, it's easy to click boxes and breeze through to your report in less than a minute. 

But if you have no symptoms of Alzheimer's disease, the American College of Medical Genetics and Genomics wants you to think twice before checking on your APOE gene status. APOE is associated with (but not causative for) Alzheimer's disease for some people. 40% of people with the version of the APOE gene associated with Alzheimer's will live their entire lives asymptomatic. 

A few years ago, ACMG partnered with the Choosing Wisely campaign to offer directiveness on genetic testing of the APOE gene. The ACMG assessment offers links to references that support their stance that doing predictive testing for Alzheimer's disease in someone without symptoms is, well, NOT WISE.

My job as a genetic counselor isn't to tell people whether they are being wise or unwise. My job is to offer the options, to share what we currently do and do not know about genetic disease risk associations, to connect my clients with resources for more support and learning, and to guide them in making a decision that is right for them, at least right now. 

What we know now about the genetics of Alzheimer's disease is limited, and interventions like treatments and drugs are heavily researched but so far not highly promising. Would you want to know you carry an association that many in the world do, that in many cases never results in the development of Alzheimer's disease? It's a tough choice. A genetic counselor can help you think through these things.

Maybe fighting the urge to open certain reports is what you need right now.    

http://www.choosingwisely.org/clinician-lists/american-college-medical-genetics-genomics-apoe-genetic-testing-to-predict-alzheimer-disease/

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!