Taking a temporary blogging hiatus to celebrate a new family member

Hello, readers! I am so glad to see more of you visiting my blog and the Watershed DNA blog readership as a whole growing with each new post. I wanted to let you all know I'll be taking a hiatus from posting for a few months to focus on the addition of our new baby. By summertime, I hope to be back at the keyboard and already have some new post ideas in mind for when I return.

If you are a new reader, maybe you'd like to go back and review some of my past posts. I recently added a search box to the bottom of the page to make it easier to search the blog history based on topic. Scroll down to the bottom and try searching for terms of interest to you. I've tagged posts using these terms in the past:

  • 23andMe
  • ABC27
  • adoptees
  • adoption
  • advice
  • All of Us project
  • alpha-1 antitrypsin deficiency
  • Alzheimer's
  • ancestry testing
  • anniversary
  • APOE
  • Are Your Parents Related?
  • Baltimore
  • Base Pair
  • blog
  • Bone Marrow Transplant
  • Carrier Screening
  • Chimera
  • Chimerism
  • classes
  • conference
  • consultations
  • consumer awareness
  • cousin couples
  • direct to consumer DNA
  • DIY
  • DNA
  • DNA Quest
  • Dr. Oz
  • DTC genetics
  • education
  • event
  • expertise
  • Family
  • Family Health History
  • family history
  • Finding Your Roots
  • GEDmatch
  • genealogy
  • genetic counseling
  • genetic counseling assistants
  • genetic counselor
  • Genetic Counselor Awareness
  • Genetic Genealogy
  • genetic testing resource
  • genetics
  • genomics
  • gift
  • grandparents
  • GRIP
  • guest blogger
  • Health
  • helping
  • Home DNA Test
  • information
  • infosheet
  • interview
  • James Madison University
  • JMU
  • LHON
  • Maya Angelou
  • Media
  • medical genetics
  • mentoring
  • mitochondrial DNA
  • MyHeritage
  • news
  • NGS
  • NIH
  • NSGC
  • NSGC Gene Pool
  • nutrigenomics
  • online testing companies
  • Parkinson disease
  • PBS
  • Pedigree
  • Pittsburgh
  • poem
  • precision medicine
  • Presentation
  • Promethease
  • public policy
  • radio
  • raw data
  • regulations
  • research
  • resources
  • ROH
  • sharing
  • Small business
  • SNP
  • social media
  • speaking
  • STEM
  • Stem Cell Transplant
  • story
  • support
  • surprises
  • TapGenes
  • tele-genetics
  • telomeres
  • Third Party Sites
  • Tools
  • Twitter
  • unexpected results
  • utility
  • VaAGC
  • validity
  • variant
  • Video
  • Virginia
  • VOUS
  • VUS
  • Watershed DNA
  • Webinar
  • websites
  • WES
  • whole exome sequencing
  • writing
  • YouTube

Best wishes for the rest of the winter and blessings for a mild springtime!

Filtering a Promethease Report: One Genetic Counselor's Strategy

There's no right or wrong way to filter through the results of raw genomic data and no professional standards or guidelines about how to do. So I've come up with my own strategy for how to do it out of necessity. It's a common request I receive, and in my quest to help people get proper genetic counseling and the appropriate follow-up testing and/or recommendations, I'm happy to try to help.

There are many reasons you should not rely on a Promethease report or consider raw data to be accurate health information, which I've written about in prior blog posts (and posted a video on YouTube) in the past:





But don't just take my word for it! Also consider the warnings from the companies and tools themselves, like this fine print on one page of the 23andMe website:

"This data has undergone a general quality review; however, only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe's Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical, diagnostic or other use."  

I know many people will try to make use of their raw data anyway, so here is my guidance for the folks turning to Pomethease. **Again, I want to emphasize this is only one approach, and until there are standards I am not claiming this guidance as personalized medical advice for readers in any way.**

Brianne's Five Steps to Filtering a Promethease Report

  1. Scroll down to the bottom of the report page and set the visualization tool to the "color blind" setting. 
  2. Set “Magnitude” at a minimum of 3.0 and leave maximum at its standard setting (4+).
  3. Turn on the “ClinVar” button.
  4. Scroll down to the bottom to the ethnicity section (at the bottom right), and uncheck all the ethnicities that do not describe you.
  5. If you used a raw data file from recent testing at Ancestry.com (v2), be aware there are many false positives ("miscalls") that seem to be creeping up. Miscalls happen with other company's data as well, so read through to see if any of your markers are referred to as “miscalls” in the Promethease report for the particular company you used.  

The first step is optional, but I recommend it because I've found that viewing the genetic markers listed on a Promethease report using the default color setting (red is listed as "bad" and green as "good") can be psychologically misleading and distressing to some people. This report isn't diagnosing you with medical issues, nor is it predicting your future. The genetic markers ("SNPs" or "snips") are simply risk-adjusters. And on top of that, raw data findings can be wrong

If you have any markers still remaining after filtering -- and especially if any relate to conditions already in your personal or family medical history -- I recommend you consider scheduling follow-up with a genetic counselor who is familiar with raw data and third party tool reports. You might have to shop around to find one because there aren't too many of us (at least not yet).

Genome Medical is one service that will see patients with questions about specific SNPs/raw data markers associated with health conditions. Genome Medical offers counseling via phone or video and can discuss the potential impact of that marker on your health and order follow-up confirmation testing if appropriate.  They do not currently work with patients to filter data or review the entire raw data file, so you will need to have already done the filtering process yourself. 

If you are someone who prefers an in-person type of interaction, you might search for a genetic counselor at a clinic near you. Start at findageneticcounselor.com and search based on location or the genetic counselor specialty (cancer, cardiovascular, reproductive, etc.). Some geographical areas and hospital systems may have a genetic counselor able to assist you and others may not.

Want help with the filtering process or a better understanding of the different filters and why they matter? I'm happy to assist. My schedule will open up again for these types of referrals at the end of the spring, so check back for my calendar to be reposted in May 2018, if you don't mind waiting.



Should you do a home DNA test for Alzheimer's?

Alzheimer's is a complicated disease.

There are early-onset forms and late-onset forms that have different genes involved. The risk to develop Alzheimer's as a result of genetic predisposition varies from person to person and family to family, depending on which form is going on and which gene or genes are involved.

We don't know and understand all the factors that cause Alzheimer's yet, so while genetic testing can be helpful, it oftentimes won't be able to tell the whole story. 

If you have raw genomic data you've downloaded from a consumer DNA test (like Ancestry, Family Tree DNA, MyHeritage, or 23andMe), I want you to know some of the limitations that have come to our attention. 

There are known miscalls (testing errors) happening for some of the Alzheimer's-associated DNA markers. Ancestry's chip (v2) is miscalling the APOE e4 variant as normal in those who actually are positive, for example. 23andMe (v5) seems to be having the opposite issue with falsely miscalling a SNP as positive in one of the early-onset genes.

Also, the markers included on testing at consumer companies change over time, so if you try to run an analysis on your raw data (by using Promethease, as an example), your report can change from one file to the next and vary over time. You might see things pop on one report that don't appear on another, depending on the testing company or the version of testing that was used.

My advice when people ask about results on Alzheimer's genes and the results they get back from testing at home is this: talk with a genetic counselor (like myself or someone else you find in your area) to make sure you are understanding the results, and always follow up a home-based test with a clinical test before believing them as "real".

Interested in reading more? Here are two other posts you can read about Alzheimer's and whether to find out if you might have a genetic risk:



This is VUS

Adoption affects access to information about a person's history, most significantly for the person who was adopted. As this post reveals, it can also affect the parents who have adopted a child with complex medical needs and no clear underlying cause. This guest post is written by Michelle Seitzer, a mother whose daughter was adopted from Bulgaria at age 2. Michelle shares of the journey her family has taken to discover the reasons behind their daughter's medical issues and the search for care and treatments. The journey has been long and has included genetic testing that resulted in more questions than answers.

Michelle writes about the dreaded "VUS" (also called VOUS or a variant of uncertain significance) and her resolve to keep searching for answers to help her daughter.

Because the medical genetics community is still trying to understand how individual genetic variations affect health, the more we test the more uncertainty that often arises. Not every difference in DNA is harmful. With more than 7 billion humans alive today -- and each of them with a unique sequence of 3 billion letters of DNA -- the capacity for variation from one person to the next is nearly limitless.

Over time, variants that are at first uncertain can be "reclassified" into the category of clearly disease-causing or clearly harmless.

In the meantime, families like the Seitzers wait while the medical genetics world tries to sort them all out.   

- Brianne


"This is VUS" by Michelle Seitzer

When we started the international adoption process in 2011, questions became our new normal. Nearly five years later, we still have many unanswered questions—maybe more.

We recently did two rounds of genetic testing on our daughter, who is 7. When we first met her, she was 2. When she joined our family, she was a few months shy of 3. We knew she had some special needs, the main ones being mild cerebral palsy (CP) and extreme prematurity (which can cause a number of delays and deficits). We anticipated developmental delays as a result of her time in the medical-social care home as well.

The medical report we received from our adoption agency was quite extensive, and after meeting and speaking with several medical staff members in her care home, the report seemed fairly reputable and accurate (this is not always the case with international adoptions). In fact, one of the most accurate lines in her medical record—even after being translated from Bulgarian—still holds true today (though it could apply to most children at any point in time): “Reacts to prohibition with displeasure.”

We quickly learned what’s on two-dimensional paper in black and white and what happens when that multidimensional child and all her history—knowns and unknowns—collides with a completely different culture and environment. When that child becomes part of a family. When that child is given opportunities to grow and thrive in ways her care home, as competent and compassionate as its staff seemed to be, could not offer.

Over the past five years, we’ve probably seen 20-30 different doctors, specialists, therapists, and more. Some have been expected. We had been advised by the medical director of her care home to follow up with a neurologist and an orthopedic specialist for her CP, and we’ve seen several orthopedists—including a surgeon who performed double hip surgery on her in 2016—and do yearly or as-needed visits with a neurologist. But some have been unexpected. When she was four, we were referred to a sports medicine doctor for a knee condition which showed up on an MRI.

Also since her arrival to the US in 2013, she’s had three sets of ear tubes surgically placed. These are quick and easy surgeries, but her consistently poor results on audiological tests even after having new, clear tubes led our ENT (ear, nose, and throat specialist) to refer us to the genetics department at Children’s Hospital of Philadelphia (CHOP). His hope was that we’d find an underlying cause or condition responsible for her hearing loss, and to determine if that condition is progressive (because she had a comprehensive brain MRI, we were able to look at those images and rule out any nerve damage or other physical “misconnections” responsible). Knowing her complex needs, he also hoped we might find a genetic “diagnosis” that would tie together all her many loose ends. I was hopeful for the same, but if I’ve learned anything as a special needs parent, it’s that things are rarely easily explained, able to be neatly packaged, or simple. There are acronyms for just about everything, and I’m now well-versed in the alphabet soup of the special needs & adoptive parenting parenting world.

When you’re dealing with the mysteries of adoption, in our family’s opinion, some information is better than none at all.


We did the first round of genetic testing, a wide genome array, and were then encouraged to take the next step, whole exome sequencing (WES). It involved a blood test, exam, and a consult. Since we don’t have any family medical history or access to it, we believed whatever results were returned, the testing might at least provide some information about her current and future health needs. When you’re dealing with the mysteries of adoption, in our family’s opinion, some information is better than none at all.

We waited eagerly for the results, which came about three months later.

But true to her form of always keeping us and her doctors and therapists guessing, the WES results showed 5 genetic variations, all of which fell under the category of VOUS—variants of unknown significance. In the genetics world, "VOUS" basically means the variant could lead to nothing—it's essentially benign—or it could develop into something pathologic. Good or bad. Something or nothing. At this point, there’s not enough information to know for sure.

In the genetics world, “VOUS” basically means the variant could lead to nothing—it’s essentially benign—or it could develop into something pathologic.


The test we hoped might bring one “easy” answer brought us more questions. We’re sort of getting used to that. But we press on. Is it because we want a diagnosis that could mean an even more difficult future for her than the one we already might imagine? Or something that would change the tremendously positive and even independent future we also imagine? No. We don’t want a diagnosis if there’s not one to have, but when you have a child with many unexplained health issues and challenges, you do long for a simple explanation—especially because it might lead to a simpler solution than all the therapies, treatments, and interventions we have and continue to try.

The test we hoped might bring one “easy” answer brought us more questions.

You long for some glimpse of the future: will she be able to have her own children, and if so, would they have similar health issues and challenges? Will any of her current “conditions” get worse? On the flip side, as genetic research improves and advances at light speed, could we also learn of a cure? A treatment that would help her and other kids like her?

Besides learning to “speak” alphabet soup, adoption and special needs parenting has certainly taught us to expect the unexpected. To live in the pain but also the joys of uncertainties. To know her story, and ours, and the stories of all the children and adults who have undergone or will undergo extensive genetic testing, is still unfolding.

If we can get a little more clarity on what we can and can’t change, great. If by doing so we can help others in similar situations, even better. If we don’t learn anything new at all, that’s fine too. We’re grateful for the opportunity to try, grateful for every moment with our daughter, and grateful for the people who have helped us try to understand her better so we can give her the best possible quality of life. And in the end, that’s the most significant and concrete finding of all: I can live with the unanswered questions so long as we’ve done our best to answer the important ones.


Michelle Seitzer has been writing since she was old enough to hold a pencil, but she’s been a freelance writer since 2008. Before her daughter joined their family, she spent more than a decade volunteering and working in senior living communities, and advocacy for elders continues to be one of her greatest passions. She currently lives with her family in an old stone farmhouse north of Philadelphia and loves traveling, the arts, and following interior design blogs on Instagram. Follow her on Twitter @MichelleSeitzer.

Why do adoptees want DNA testing?

Anna Childers is a genetic counselor at Vanderbilt University in Nashville, Tennessee. Last year, she interviewed adult adoptees on their perspectives on DNA testing as part of her graduate degree from the University of South Carolina. Her study queried adults who had been adopted as children about the importance of DNA testing and their motivations for pursuing DNA testing in the at-home setting.

Anna presented her results at the 2017 National Society of Genetic Counselors annual conference, and the findings were consistent with other past reports of the use and motivations of DNA testing by adoptees.

As an active participant in the world of genetic genealogy and someone who has interacted with adoptees and adoptive parents through my professional work and personal life, this topic holds special importance to me (and many others!).

In this post, Anna shares a summary of her project's outcomes with readers. If you would like more details about the project or to be kept abreast of any updates related to the work Anna has done (when full results are published publicly, for example), you can check back here on my blog over time, or reach out to Anna yourself (anna.k.childers@vanderbilt.edu).   

Great work, Anna! These results are an important contribution to the body of knowledge that will help those affected by adoption gain better access to information that may impact their health, their families, and their rights. 

- Brianne

P.S. Readers, interested in this topic? I have additional links related to adoption and DNA listed in my newly-updated resources section and also provide private consultations about various DNA topics (including health/medical) for all those affected by adoption as well as their family members.

Anna Childers writes:

The public’s knowledge about the role of genetics in disease is constantly growing. At the same time, the market for direct-to-consumer genetic testing (at-home genetic testing) continues to expand. Companies such as 23andMe and AncestryDNA allow you to order a genetic test without speaking to a healthcare provider. These test results can - depending on the company - offer information on disease susceptibility, carrier status, ancestry, and many other areas of interest.

One group of customers taking advantage of the ever-growing at-home genetic testing market is adoptees. Previous research has shown that adoptees appear to be more motivated than non-adoptees to learn about their genetic disease risk but have similar responses to health-related information. In our study, we interviewed 14 adoptees that received some sort of health information as a result of their journey with at-home testing.  We asked these adoptees about their motivations for pursuing testing, their satisfaction with their results, their emotions throughout the process, and their interest in meeting with a genetic counselor.

Adoptees described three main motivations for pursuing at-home genetic testing:

1) identity-seeking

2) a desire for health information

3) general curiosity

This idea of seeking some form of an identity, for some adoptees, corresponded with the search for biological family. For others, it meant learning more about their ethnicity. Both provided adoptees with the opportunity to connect with something bigger than themselves. One adoptee described this search, saying “people are proud of their heritage, and all your whole life, you don’t have one…a nice diverse [ancestry] to me was being able to go ‘oh gee I can associate with that, associate with that, find out about all those different cultures.’”

 Adoptees also shared a variety of emotional reactions to the newfound information, but the strongest emotional responses were reported in reaction to ancestral information, or information regarding both ethnicity and biological family. For example, silence from one adoptee’s biological family led to the feeling of being a “dirty little secret.” Another, after learning that her heritage was different than what she had been told her entire life, described the time spent looking for her biological family as “30 years of absolutely wasted time.”

Since health-related genetic testing was a theme of the study, familiarity of the concept of genetic counseling was assessed. When we asked adoptees about their interest in speaking with a genetic counselor, the majority of the adoptees found some sort of value in talking to a genetic counselor. The adoptees said that this kind of information would be useful if they were found to carry certain genetic traits, if a new health concern arose, or would be beneficial for their family members.

Genetic counselors are professionals trained in dealing with both the emotional responses and the educational questions that come along with genetic testing. The insights from this study were shared with genetic counselors during the 2017 conference of the National Society of Genetic Counselors in Columbus, Ohio. The research is also being prepared for publication and upon publication, full study results will be available for a larger audience to read and to learn.

In the words of one of the adoptees interviewed, “[adoption] affects all the generations going forward because [adoptees] missed out on that giant piece [of information].” It is up to genetic counselors to help adoptees sort through what these results might mean for them, both in the emotional and informational sense.


Bio: Anna Childers is a pediatric genetic counselor at the Monroe Carell, Jr. Children’s Hospital at Vanderbilt University in Nashville, Tennessee. The work summarized in this blog post was completed in 2017 as a part of her graduate work while a student of the University of South Carolina’s genetic counseling program.


A new year, a new resources section on WatershedDNA.com!

It's a new year, and it's a new resources section for the Watershed DNA website!

  Here's what part of the new section looks like.

Here's what part of the new section looks like.

I've refreshed my resources list, fixed links, added a search box, and reorganized my list of free resources to help you find your way to more information on the DNA topics of interest to you.

Sections at this time include general, ancestry, health, adoption, and donor conception. 

Check back again in the future, as I'll be updating sections and resources over time.

Also feel free to send suggestions my way if you've found a particularly helpful online resource that you think more people should know about. 

Link to the Resources section here!

- Brianne