If you have not yet tested, but are getting ready to, the UBC Genetic Connections Study would like you to participate in their study. They will follow your experience before and after your results come back. Website: https://delongis.psych.ubc.ca/ubc-genetic-connections-study/
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 (firstname.lastname@example.org).
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.
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:
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.
How do you know if a DNA company you found online is reputable? And whether its results are reliable? These are common questions. And they are difficult to answer.
If you're asking about tests that will give you ancestry or genealogy information, the International Society of Genetic Genealogy is a great place to turn. Their beginner's guide section has a list of articles to get you headed down the right track. I've also written about choosing between the options in this area of DTC testing before and linked to other articles with advice in this blog post.
I received a great question through my website today: "How can I enroll in All of Us?"
If you're interested, visit this site: https://www.joinallofus.org and sign up for more details by clicking the "join now” button.
The project is in "beta testing" with 2,500 participants across 50 sites, to get the system up and running. According to this recent Genome Web article, the project will be opening to additional participants in spring 2018.
If you sign up now, expect to receive update emails that will give you more information over time. The All of Us website and Twitter are how I receive my updates, so I don't have any tips or insider info to share.
Will signing up now lead to an earlier chance at enrollment? Not sure. But if you like to line up early for the best seat in the house, or generally live your life as the early bird going after the worms, I guess there's no harm in trying!
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.
The National Institutes of Health's "All of Us" study is a project I provide updates about every so often. Initially named the Precision Medicine Initiative when launched, it is a project whose announcement by President Barack Obama received bi-partisan applause and support. And for obvious reasons.
Genes are not political. Chromosomes aren't Democratic or Republican or Independent. We all have DNA in the cells of our body, 99.9% of it almost entirely the same as every person we run into in our lives (and even those we don't). But any day, any of us could get sick. And some medicines or treatments may work on us that don't on others (and vice versa).
Sometimes a single change in the DNA sequence can make all the difference.
I'm not privy to insider knowledge on the progress of All of Us, I just keep my eyes peeled for updates and pay attention when they appear. I sense things aren't running entirely smoothly (see some Twitter snark below, posted a few weeks ago). But it is a big project with lots of players involved. And in spite of great challenges a big project like this faces, announcements of progress continue.
The latest news to come out is that the first three enrollment centers have been named for the project. They are three sets of health care provider organizations (in other words, hospital-research networks) based in Wisconsin, Alabama, and Florida.
Enrollment centers are the institutions that receive funding to coordinate the consent and enrollment for volunteers of a study. Sometimes, you'll have only one center for a study (here's a great site for searching for research studies, by the way). But for a project as big as All of Us is planned to be, multiple centers will be necessary.
Participants don't necessarily have to receive any care at these locations to participate. They are simply the enrollment hubs and coordinate the education and consent of participants. In other words, they're the wheels on the bus that make the project go all 'round the town.
From the start, it has been a stated and central goal of All of Us to enable discoveries that will be useful for all Americans. In the past, biomedical research in the U.S. has more often enrolled (and therefore given advantage to) Caucasian and male populations. There ought to be a way, in a project of one million people, for every group - minority and majority - to be represented. Anyone who has criticism for All of Us for trying to do this, well, I am just going to call you Scrooge. Someone needs to try, and they are doing it. Their choice of institutions for enrollment centers is first evidence All of Us is keeping their promise to make sure traditionally under-represented populations will not be under-represented in this project.
I want to see this project succeed and hope it does. Everyone deserves to benefit.
If you're an early participant in All of Us (or know of someone who is), please reach out to me. I'd love to interview you for a post on my blog and ask what it was like to join, and why you did.
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.
Read Brianne's guest blog post at DNA Digest today! This latest piece titled Genealogy and Genomics Take Their Vows includes a summary of genomics research projects engaging different aspects of genealogical discovery. This was written for the crowd already involved in genomics research, so there may be some lingo new to many readers new to the DNA journey.