Did you know that by textbook definition, full siblings (brothers and sisters who share a common mother AND father) are supposed to have about 50% of their DNA in common? From projects like the crowd-sourced data collection project by DNA Central founder Blaine Bettinger — The Shared cM Project explained well in this post by Leah Larkin — we have learned that human biology doesn’t always follow the rules!
Nearly a year ago, the genealogy/DNA testing company MyHeritage announced the roll-out of a program they call DNA Quest. They asked me to be part of the volunteer advisory board for this project, a program aimed to take down the barrier of DNA test cost to searching adoptees and the birth family members searching for them. Last week at a genealogy conference called RootsTech, MyHeritage announced an extension of DNA Quest to provide free testing to an additional 5,000 participants. Share the news with family and friends who you think may be interested!
The New England Journal of Medicine recently released a paper on an extremely rare set of boy/girl sesquizygotic twins. Early in the pregnancy, it was noted on ultrasound that the twins shared a placenta, indicating they were likely identical twins. Sesquizygotic twins have been reported in the literature before, but this is reportedly the first case of it being detected during a pregnancy.
Sometimes I fear the media attention of direct-to-consumer test in recent years comes at the expense of the most vulnerable in society: children and adults living with rare disease.
These individuals and their families must continually fight for recognition of their needs, for their rights to access and secure financial coverage. Few people other than those who have been through a challenge navigating the medical system with a special needs family member recognize the journey can be tough and long.
For these people, DNA testing isn’t just for curiosity’s sake. It’s not done because it’s fun or interesting to them. It can be a quality of life or a life or death matter.
Heart Disease and why DNA matters
Genes involved in the function of our cardiovascular system differ, ranging from those involved in the structure of the heart, the shape and density of the muscle cells and connective tissues, and even the function of the cells involved in electrical signals that tell the heart to pump. Genes can even influence how much cholesterol our bodies create. (You read that right! Not all cholesterol comes from our food!).
Valentine’s Day has come and gone, but it doesn’t mean we stop talking about hearts! February is Heart Month, which makes it a perfect time to discuss heart health and how genetic counseling and DNA testing might help you understand your chance of heart disease.
Helping everyone get connected to reliable information to understand DNA testing - whether for ancestry purposes or medical - is a central goal of my blog, so I’m taking a detour from my recent posts on family matching surprises to visit this DNA health topic. This posts kicks off a three-part series on DNA and heart health. Part one will cover the basics before we dive further into genetic counseling and at-home tests and third party reports that give information related to cardiovascular issues.
Our genetics can contribute to a chance for heart issues, but it’s not the only factor. Read on to learn more!
I recently wrote a post for Family Tree Magazine’s website called “What DNA Testing Can’t Tell You” in which I focus on things the test itself can’t tell you, like how you’ll react to your results or how to reach out to a surprise relative if you find one.
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).
A few months ago, I wrote about the DNA Quest program for adoption-related DNA searches going on at MyHeritage. They have closed the program to new enrollees at this time but may open again in the future as additional resources become available. Here's a guest post I wrote for their blog with my five top tips for an adoption-related search. You might be surprised that some of them are DNA-related and some are not!
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.
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.
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.
"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.
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.
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.
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.
It's a new year, and it's a new resources section for the Watershed DNA website!
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.