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!
Many of us take medications to stay healthy and treat conditions such as depression and cardiovascular disease. However, some people respond differently to some medicines, and part of that difference is due to our genetic makeup. Genetic tests that identify and characterize these variations are available, and you may be wondering if those tests are a good idea for you. Here are some points to consider:
Blogging to Cope with My DNA Surprise: Stacey’s Story
A couple of weeks after my 41st birthday, my world as I knew it changed forever. It’s a story we’ve now all heard: a DNA sample submitted to an ancestry website revealed unexpected biological data. After asking my parents about it, they finally revealed that the man who raised me was not my biological father. I had so many questions - who was my biological father? Why did they lie? How could they keep it from me for so long? Who knew?
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.
Two lovely genetic counselors and leaders within the National Society of Genetic Counselors paired up to experience and write about having ancestry testing to learn more about their Hispanic roots. As NSGC’s Ancestry Expert, I was invited along to provide commentary. The post went up recently, just in time to recognize Hispanic Heritage month. Check it out!
From Brianne: Today's post is written by a guest writer. I'll call her Casey. Casey shares with us her DNA surprise, a shocking realization about herself and her connection with family that unfolded over time. I applaud Casey for finding the courage to write down her story. Writing can be difficult, triggering, and healing.
I know many of you will relate to Casey, even if your story is somewhat different. If you'd like to see your #DNASurprise story shared here, reach out to me. You never know how your story might help another person who's in your same shoes.
If you'd like to join a secret support group on Facebook for the DNA Surprise you've discovered about yourself or another person, send me a DM. I'll need to hear a summary of your situation make sure the group is a good fit, then you'll need to send me the email address you have associated with your Facebook account so I can add you.
“Do you wish you’d never done a DNA test?”
A friend at work asked me this question recently. For the first time in months, I had to really think about my answer.
“No,” I said, realizing that I actually meant it. Earlier this year, that answer would have been unthinkable. But as the word came out of my mouth, I knew it was the truth.
I grew up as the daughter of a single mom. My father and my mother had divorced soon after a hasty marriage in college, and he was an absent parent. I was very close to my grandparents, my great grandmother, and my aunts, uncles, and cousins; while I felt the absence of a father in my life, I had plenty of family around. My father and I met in my teens and a somewhat cordial but strained relationship developed, then died out when I moved away to attend college. We rarely speak, and my half sister from his second marriage is a stranger.
My maternal grandparents had always been interested in family history and genealogy, and I grew up hearing stories of cleaning up old family cemeteries, road trips to old homesteads, and hours spent in archives researching our family tree. When I married and had my own child, my interest in finding my own family history was piqued, and I began researching and building my family tree. Finding documents, stories, and sometimes even photographs of ancestors made them come alive to me, and I loved putting together the stories of their births, marriages, babies, jobs, houses, and moves throughout the country. I felt connected to these people and deeply rooted in my family history.
I felt connected to these people and deeply rooted in my family history.
In 2014, consumer DNA tests were gaining popularity among genealogists. I saved up my money, waited for a sale, and spit into a tube, eagerly awaiting my results. They were pretty much what I expected—my ethnicity showed I was from Great Britain, Ireland, and Scotland, with some Scandinavian and a few other European areas thrown in. I had a list of people who shared my DNA, although I could actually place only a handful—my mother’s second cousin, a few third and fourth cousins on my mom’s side. I even had a couple of matches who seemed to share really distant ancestors on my father’s side. I knew, through my research, that some of my maternal grandmother’s ancestors had immigrated from Ireland, and my maternal grandfather’s ancestors were from Scotland by way of Northern Ireland. My father’s family had immigrated from Ireland in the 1700s. So I was Irish, Scottish, and English? Not a surprise.
As time passed, I got more DNA matches, but few were closely related, and even fewer were recognizable. I became active in genealogy forums on Facebook, and helped answer DNA and genealogy questions from “newbies.” Consumer DNA testing grew in popularity, and more matches rolled in every week. Although I’d done my DNA test on ancestry.com, I decided to upload my DNA test results to other, smaller sites to see my DNA matches there. I wanted to confirm some of my genealogical ancestor “guesses” and find new relatives.
As time passed, I got more DNA matches, but few were closely related, and even fewer were recognizable.
In January of 2018, I got a notification from one of those other sites. The “You have a new DNA match!” emails were pretty common, and the matches were so distantly related that I couldn’t figure out how we were connected. I ignored most of them, but for some reason, I opened this email. The match was a close one—this man and I shared DNA at the level of a half brother or uncle—and I didn’t recognize the name. At all. What?
My new DNA match didn’t match my maternal relatives, so he was clearly related to my father. I spent several hours trying to figure out how it was possible my father had been adopted, as he was the middle child of a happily married couple and he definitely resembled his parents and siblings. Or, I wondered, had my grandparents somehow given up a child (who was now around my father’s age) for adoption? Yes: I, a reasonably intelligent researcher, a person who sometimes helped others with their genealogy and DNA questions, went there. My only excuse is that when it’s your DNA surprise—your story—sometimes you can’t see the forest for the trees.
When it’s your DNA surprise—your story—sometimes you can’t see the forest for the trees.
To make a long story short: the match was my paternal uncle. My biological father was not who my mother (or I) always thought he was—he was a college friend of my mom’s, and this was a surprise to her as well as to me. We were both stunned, shocked, and I think we probably both felt like we were going to throw up when we finally were able to talk about it.
The family I’d always known as mine, wasn’t. Those ancestors I’d carefully researched and whose stories I’d cherished? Not mine. But the worst part was that my biological dad was deceased. I’d never get a chance to meet him—for closure, or curiosity, or any other reason. Door shut. End of story.
Over the next few months, I felt like my world had turned upside down. I felt lost...it’s hard to find out in your late 40s that you aren’t who you thought you were all of your life, and I didn’t take it well. I cried at inopportune moments, I wondered what I’d done to anger the Universe, and I grieved for that family I’d lost. Similarly, I found myself mourning the relationship with the man I’d always thought was my father, though it had been practically nonexistent for years. I’d always harbored a tiny hope that we’d fix it someday. Now, there was not even a biological link to tie us together when nothing else had.
I felt like my world had turned upside down.
But—and there’s usually a “but” in these stories, right? I have a living uncle, with a kind and accepting wife, who wants to meet me. I have an amazing brother who is about a year younger than me and is like me in so many ways. He makes me laugh, and challenges me, and inspires me to be a a good big sister and a better person overall. I wish we’d been able to know each other growing up, but I’m glad we do now.
Is the “surprise dad” thing still hard? Oh, yeah. There are days when I have trouble dealing with my emotions. I’ll suddenly think of my not-father’s parents and miss them—and wonder if they ever suspected. (I don't think so.) I’ll drive by a battlefield where a relative died and think of his sacrifice…and then remember he’s not my relative. I think about my not-father and our fractured relationship, and I feel sad and guilty. I think of the lost opportunities to know my biological family--especially my grandmother, who by all accounts was a wonderful lady--and all the years I missed out on knowing my brother. It hurts.
I’ve gained so much, though, and that’s why my answer to my friend’s question was “no.” I don’t regret doing the DNA test. I’m slowly developing relationships with my new family, and I’ll be meeting them for the first time this summer. I’m learning about my history and undiscovered ancestors. I’m adding their stories in my family tree to those of my former ancestors, who still hold a place in my heart even though we don’t share genes. I know the truth now, and while sometimes the truth is uncomfortable and scary and sad, it’s also important. I’m a different person now, I think—or maybe I’m the same person, just with different roots and a different family. Everything I thought about myself has been challenged, and it’s been hard. But I think things will be OK. I think I’ll be OK.
Thank you for sharing, Casey. I'm looking forward to hearing about part two of your story. Sending positive vibes to you as you prepare to meet some of your new family this summer!
23andMe now provides FDA-approved reports on Parkinson's disease risk, and I thought readers could benefit from a post specific to the condition. This guest post was written by my friend and former colleague, Lola Cook Shukla, who specializes in the genetics of Parkinson's disease. Lola is a genetic counselor who provides telephone genetic counseling to participants who are part of a large Parkinson’s disease research study, sponsored by the Michael J. Fox Foundation. The wing of the study focused on Parkinson’s genetic testing is located at Indiana University School of Medicine.
Thank you, Lola, for sharing your expertise with us! There's a lot of nuance to the risk of developing Parkinson's, and I appreciate the chance you've given us to understand it better.
Parkinson’s Disease and Genetic Testing: What You Need to Know
by Lola Cook Shukla, MS, LGC
The company 23andMe began again to offer genetic testing for specific health risks in 2017, including Parkinson’s disease. Parkinson’s disease is a common adult-onset movement disorder. Genetic testing may tell you that you have an increased risk for developing Parkinson’s disease; however, it cannot tell you for sure if you will or will not get the disorder. In other words, regardless of your genetic test results, you may or may not develop Parkinson’s disease in your lifetime.
Here are some quick facts about Parkinson’s disease:
- It is a chronic and progressive movement disorder.
- About 1-2% of all people will develop Parkinson’s disease in their lifetimes.
- The average age of onset for the most common type is age 60.
- Dopamine deficiency causes Parkinson’s features which include slow movement, rigidity of the muscles, tremor, and gait problems.
- Other features may include changes in the ability to smell, cognitive and psychiatric symptoms, sleep disorders, pain, and fatigue.
What Causes Parkinson’s Disease?
Parkinson’s disease was previously thought to be caused mainly by environmental factors, but research now indicates that in most cases the disease develops from a complicated interplay of genetics and environment.
Factors observed to increase or decrease risk include:
- Family history of disease
- Genetic risk factors
- History of head trauma
- Exposures to certain chemicals and infectious agents
- Caffeine use
23andMe’s test screens for changes (variants) in two genes, LRRK2 and GBA. However, there are additional variants in LRRK2 and GBA, and other genes, that 23andMe doesn’t test for that are likely involved in the development of Parkinson’s. It is difficult to check for these other changes either because they are infrequent or have unclear significance. In addition, it becomes more expensive to test for more rare and subtle changes.
Some environmental factors that have been implicated include severe head trauma, chemical exposures such as pesticides, and infectious agents. There are also possible protective factors. Caffeine use and moderate to vigorous exercise might be protective, so drinking your coffee while briskly walking may be healthy steps you can take to keep Parkinson’s at bay!
Ethnicity and family history influence a person’s chances. Having Ashkenazi (Eastern European) Jewish background increases the chance of carrying a change in LRRK2 and GBA - so does having more than one relative in the family with the disorder.
It is reassuring to know that the majority of individuals with a genetic risk variant will never develop the disorder since LRRK2 and GBA variants need other factors to cause their expression. Keep in mind that regardless of a genetic result there remains a baseline risk of developing Parkinson’s for everyone. Although a risk may be provided by a genetic test report, this is only an estimate and does not take into account personal factors that could impact risk. Researchers are very interested in knowing why some people with these risk variants develop Parkinson disease, and others do not.
Implications of Test Results for Other Family
When individuals decide to have genetic testing for Parkinson’s disease, they may inadvertently learn that other relatives have a risk as well. For example, carrying a variant associated with PD often means one or the other parent has it as well. It could also mean children, siblings, aunts, uncles, and cousins may have the variant, too.
Not everyone wants to know if they carry a genetic risk for which there is no clear and effective treatment to slow or prevent the disease at this point in time. This genetic risk could be information that other family members may or may not want to know, which is something to consider if you test yourself. Genetic disorders in general are often a family affair with a family member’s risk rippling out to others. This can be seen as helpful news or unwelcome news from one person to the next.
More About the GBA Gene and Gaucher Disease
Another interesting aspect of testing for Parkinson’s disease is that variants in the GBA gene are not just associated with Parkinson’s but also a very different disorder – Gaucher disease. Gaucher disease is a metabolic disorder often manifesting in childhood, which can vary in severity.
Possessing one or two copies of a GBA variant is a risk factor for Parkinson’s whereas carrying two GBA variants (the one you get from your father and the one you get from your mother) causes Gaucher disease. Persons who carry one GBA variant do not have Gaucher disease, but have the potential to have a child with Gaucher disease if two variants are passed on. This means that finding out if one carries a GBA mutation may also have implications for pregnancy and family planning.
23andMe reports on more GBA variants in your Gaucher disease report than they include on your Parkinson’s disease risk report at this point in time. This means your report - and therefore your understanding of your risk for PD - may change over time. If you’d want to know if you have an increased Parkinson’s disease risk, make sure to pay attention to update emails 23andMe sends you.
Why Do Healthy People Choose to Test for Parkinson’s Disease Risk?
Healthy individuals may decide to have genetic testing for Parkinson’s disease for multiple reasons:
- It is part of the consumer testing like 23andMe that they are already doing
- For information purposes for themselves or their family
- To reduce anxiety about risk
- Out of curiosity
- To help in research studies
It is important to think carefully about the potential implications of testing before doing it. It may be beneficial to speak to a genetic counselor, a trained professional who helps individuals better understand the benefits and limitations of a particular genetic test, before and/or after testing.
What Can You Do?
Individuals who are interested in being part of a Parkinson’s disease research study may consider joining the Parkinson’s Progression Markers Initiative (PPMI). This study, offered through the Michael J. Fox Foundation, aims to identify biomarkers (physical indicators) of PD by enrolling individuals with a genetic predisposition to the disease into an observational research study. Typical requirements for the study include: Jewish heritage and having Parkinson’s disease or a first-degree relative with the disorder, or knowledge of carrying a LRRK2 or GBA change.
TheRoot.com is the website of Henry Louis Gates, Jr., a gentleman of multiple talents and acclaim, whom Wikipedia describes as an "American literary critic, teacher, historian, filmmaker and public intellectual". Getting asked to provide commentary for a blog post for The Root was a proud moment for me as a professional writer.
One of Dr. Gates' readers sent in a question to his website earlier this year, raising concerns about a romantic relationship between cousins. As a writer and a genetic counselor with specialization in genealogy/ancestry, I was happy to provide my professional insight.
The scientific perspective I took on this taboo topic was seen as a bit too compassionate and neutral for some readers. I received some flak but still stand by the response I posted on my blog shortly thereafter.
Apparently I am not the only one getting hate mail for writing publicly about controversial topics. The Internet has made a lot things great possible and easier (like in my own situation, being able to connect with other parents who have a child with Dyspraxia).
Unfortunately, the Internet has also made spreading hate and misinformation easier as well.
Essentially, the message of my reactionary post was this: stigma is unhelpful and counter-productive. It often punishes those who completely innocent of any wrong-doing (children, for example), those who have no control over a life situation, or are at no fault. Stigma sucks. And haters be warned, just because you can use the Internet to share your thoughts does not mean you are right, or that the rest of us will listen to you.
Whether the original blog post and my response made any impact on those who do stigmatize others regarding the topic of "cousin couple" relationships, I have no idea. But it felt good to do my little part to fight back against those lurking in the corners of the Internet and casting judgment on people they do not know or understand.
Thank you, readers, for tolerating my rant. Now, back to the reason I began writing this post in the first place!
Dr. Gates and his team have created an amazing show Finding Your Roots which has received rave reviews over its multiple seasons. The fourth season of FYR is scheduled to air in fall 2017 on PBS (season premier October 3rd).
The show's premise? Genealogists and researchers track the family trees of a series of celebrities (writers, actors, politicians, musicians, and others). After the team has completed its research and compiled the guest's family history in a personalized "Book of Life", Dr. Gates sits down with his guest on camera (typically, two guests per episode). Together, Dr. Gates and his guest journey through the book, flipping the pages and learning the interesting stories uncovered about ancestors and forgotten parts of world history. DNA is a part of each show...but never "enough" for some people like myself!
Have you watched any episodes of Finding Your Roots in the past? Will you watch this season? Perhaps your favorite actor or politician or comedian will be featured this season. Check out the roster here.
Meet Kim Brown Foil. Kim is a genetic counselor and an expert in Alpha-1 Antitrypsin Deficiency. Given the genetic health risk reports now FDA-approved and available at 23andMe, I think Kim is going to be a busy person! I asked Kim to share information and resources with my readers and a way to reach out to her. Kim made seven points about Alpha-1 Antitrypsin Deficiency and the 23andMe test. Whether your report was "positive" or "negative" it's important to stick around and read them! I am so grateful to Kim for sharing her knowledge. Thanks, Kim!
The direct to consumer genetic testing company, 23andMe, received FDA approval to offer 10 new health reports beginning in April 2017. Alpha-1 antitrypsin deficiency (Alpha-1) is among these new conditions. You may have questions about getting tested for Alpha-1 or what your results mean.
There are a few important things to know about Alpha-1 and your 23andMe test:
1. Alpha-1 is an inherited risk for chronic obstructive pulmonary disease (COPD) and in some cases liver disease. It is not a certainty to develop them.
2. A laboratory test, like 23andMe, may detect the genetic condition of Alpha-1, but cannot tell whether an individual has, or will develop, COPD or liver disease. Medical follow-up with a healthcare professional is recommended for anyone found to have Alpha-1 by 23andMe.
3. 23andMe “spot checks” your Alpha-1 genes for the most common variants, called “S” and “Z”. You may have 0, 1 or 2 variants identified. The S and Z variants cause most cases of Alpha-1. There are also rare Alpha-1 variants that are not reported by 23andMe. This means that there is a small residual risk to have an Alpha-1 variant that is not looked for by this test. In some cases, additional testing may be appropriate.
4. Having 0 variants is the normal result. If you have 0 variants identified, it is unlikely that you are an Alpha-1 carrier or have Alpha-1.
5. If 1 variant is detected (one copy of S or Z) this means that you are most likely a carrier for Alpha-1. Although being an Alpha-1 carrier does not cause health problems in most people, it is important for carriers to avoid smoking and learn about Alpha-1 inheritance. On average 4-5% of people are carriers of the S or Z variants. Carriers may benefit from Alpha-1 genetic counseling.
6. If 2 variants are detected, you may have Alpha-1 antitrypsin deficiency. Individuals with two copies of the Z variant (ZZ), or one S and one Z variant (SZ), should seek medical follow-up for appropriate evaluation and treatment. These variant combinations significantly raise risks for lung and liver disease. Confirmatory diagnostic testing is recommended. Two copies of the S variant (SS) does not cause health problems for most people. It is important for people with two Alpha-1 variants to avoid smoking and learn about Alpha-1 inheritance and family testing recommendations. People with two variants may benefit from Alpha-1 genetic counseling.
7. COPD and liver disease are common disorders even in people without Alpha-1. A normal 23andMe result for Alpha-1 means you do not have increased risks due to the variants tested. There is still a background risk for COPD or liver disease to occur due to other reasons.
Genetic counseling may help you understand or adapt to the results of your 23andMe test for Alpha-1. The Alpha-1 Foundation provides free and confidential genetic counseling by telephone for individuals who have been tested, or are considering testing, for Alpha-1. See https://alphaoneregistry.org/counseling for more information. If you have questions about your result or next steps please call Kimberly Brown, Certified Genetic Counselor, at 1-800-785-3177.
Additional information about Alpha-1, including free family testing, Clinical Resource Centers (specialists), support groups, research and educational events may be found at www.alpha1.org and www.alphaoneregistry.org.
More about my guest blogger: Kimberly Brown Foil is a Certified Genetic Counselor who earned her Master’s degree in Medical Genetics from the University of Cincinnati in 2008 and ABGC certification in 2009. Kimberly practiced in prenatal and reproductive genetics for several years before joining the Pulmonary Division at the Medical University of South Carolina (MUSC). She serves a genetic counselor for the pediatric and adult care teams in the MUSC Cystic Fibrosis Center and is the Program Director for the Alpha-1 Foundation Genetic Counseling Program. Kimberly is involved in research in rare lung diseases and provides genetics education to MUSC students and other professional and community groups.
Should you give someone a DNA test as a present? I shared my thoughts with the family health tool website, TapGenes, with my thoughts on this.
Before you give a DNA kit to someone as a gift, read my six tips here on the TapGenes blog.
TapGenes is a site making family medical history easier to collect and share with family. I love how easy it is for someone to enter family members into their tree and add health details. Check it out!
Originally posted in 2015, this guest blog post "DNA, Ancestry Testing, and You" is still relevant today. Follow the link to get the whole scoop: http://nsgc.org/p/bl/et/blogaid=405