"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

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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!