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! 

Alzheimer's disease - key points to know in light of the new 23andMe reports

Alzheimer's disease is a complex and devastating condition. Genetic factors are only one piece of puzzle, as today's post will explain.

This guest blog post is written by Jamie Fong. Jamie is a board certified and licensed genetic counselor. She provides genetic counseling to people and families with or at risk for inherited neurodegenerative disease, including Alzheimer’s disease, frontotemporal dementia, prion disease, Huntington’s disease, amytrophic lateral sclerosis, and ataxia.

I'm grateful for Jamie taking the time to highlight the key points for my readers. The points she makes in #11 and #12 are especially helpful: you can participate and contribute to active research on Alzheimer's disease, and you can find a genetic counselor near you specializing in risk assessment for the condition. 

In April, the direct to consumer test company 23andMe announced it received FDA approval to offer testing for 10 genetic risk factors. Each of the 10 genetic risk factors is associated with a particular health condition. Alzheimer’s disease is one of these conditions.

That a genetic risk factor associated with Alzheimer’s disease is among the tests included in 23andMe’s Genetic Health Risk Report is no surprise, as Alzheimer’s disease has considerable impact on our society. This is reflected by the large (and growing) number of people with the condition as well as by the skyrocketing number of caregiving hours devoted to and healthcare dollars spent on patients. Alzheimer’s disease appears to rank among the most popular conditions for which people seek direct to consumer genetic testing.

From 2011 to 2013, 23andMe previously offered genetic testing for Alzheimer’s disease. At the request of the FDA in 2013, the company stopped offering it, and the recent announcement heralds the test’s relaunch. You may have questions about 23andMe’s Alzheimer’s disease test or about what test results mean. The following are some points to consider.

1.     Everyone has a chance to develop Alzheimer’s disease, a progressive brain disorder that affects memory and thinking. Age is the biggest risk factor for developing the condition. A person’s chance to develop Alzheimer’s disease increases with age.

2.     23andMe’s genetic test for Alzheimer’s disease determines the chance (or risk) of getting Alzheimer’s disease. The test cannot tell a person whether or not he will definitely develop the condition.

3.     23andMe’s genetic test for Alzheimer’s disease looks at a gene called APOE. ApoE occurs in 3 different versions. Another way to think about this is that ApoE comes in 3 different flavors. Each person carries 2 flavors, which can be the same 2 flavors or different 2 flavors. Only one flavor of ApoE is associated with increased chance to develop Alzheimer’s disease. This is known as the Alzheimer’s risk variant (or flavor), called “E4.” The other variants (or flavors) are not associated with increased chance to develop Alzheimer’s disease.

4.     The effects of having an “E4” variant of ApoE depend on a person’s ethnic background. Among people of European ancestry, having one or 2 “E4” variants of ApoE is associated with increased chance to develop Alzheimer’s disease in his lifetime. However, it is not a certainty that a person with an “E4” variant will get sick.

5.     The "E4" variant is common. About 20% of people with European ancestry have one “E4” variant of ApoE. About 3% of people with European ancestry have 2 “E4” variants.

6.     People with African American ancestry are more likely than people with European ancestry to have an “E4” variant of ApoE. By comparison, people with Mexican American ancestry are less likely to have an “E4” variant. However, African Americans and Mexican Americans have a greater chance to develop Alzheimer’s disease than people of European ancestry, regardless of which ApoE version they have. Other genetic and socioeconomic factors likely play a role in these differences. This highlights our incomplete understanding of the genetics of Alzheimer’s disease among people with non-European ancestry.

7.     A person who has no “E4” variants of ApoE may still be at risk to develop Alzheimer’s disease. In the absence of an “E4” variant, family history of Alzheimer’s disease may be the most helpful tool in determining a person’s chance to develop the condition.

8.     The “E4” variant of ApoE is not the only genetic variant that contributes to Alzheimer’s disease risk. There are numerous other genetic variants involved in increasing a person’s chance to develop the condition. Some of these variants are known by researchers and clinicians, but many have not yet been discovered. 23andMe’s genetic test looks at none of the other Alzheimer’s disease risk variants.

9.     Whether you have 0, 1, or 2 “E4” variants of ApoE, your doctor’s advice to you is constant. This means that your doctor’s recommendations do not depend on your 23andMe’s genetic test result. A heart healthy diet and regular cardiovascular exercise may reduce a person’s risk to develop Alzheimer’s disease. Be wary of claims of the benefits of dietary supplements and/or brain games. Nothing has been proven to prevent Alzheimer’s disease altogether.

10.  23andMe’s APOE test should not be used to confirm or rule out a diagnosis of Alzheimer’s disease. The condition is diagnosed by a multitude of other non-genetic tests. If you are concerned about symptoms, please consult your doctor.

11.  There is hope for Alzheimer’s disease therapies in the near future. Consider participation in research. Check out www.endalznow.org.

12.  If you have questions or want a tailored risk assessment, contact a genetic counselor or other genetics professional. Check out the “Find a Genetic Counselor” feature on www.nsgc.org.

 

Written by Jamie Fong, a board certified and licensed genetic counselor. She works with a multidisciplinary team of neurologists and neuropsychologists at the UCSF Memory and Aging Center, where she is involved in both the Center’s clinic and research programs. Jamie holds a Bachelor’s degree in Molecular and Cell Biology from UC Berkeley, and a Master’s degree in Genetic Counseling from Sarah Lawrence College.