Last week, I was interviewed by Theral Timpson for the Mendelspod podcast episode called “Family Surprises Care of the DNA Test.”
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!
I recently spoke with Brian Hickey who writes for PhillyVoice. In this piece which covers the topic of support after unexpected DNA discoveries, I shared my thoughts on the topic and touched briefly on the role grief and support play in these experiences.
You can find the article HERE.
What happens to DNA when someone has a stem cell transplant?
Some people have had a stem cell transplant using their own stem cells. This type of transplant does not have any impact on DNA and DNA test results. Organ transplants also do not appear to impact DNA results, even though the organ has come from a different person whose DNA differs from you.
Those who have had stem cell transplants in which they’ve received a stem cell donation from another person run into challenges when having a DNA test on blood or saliva. After transplant, the white blood cells circulating through the body contain the DNA of the stem cell donor because the blood-producing cells of the bone marrow have been replaced by the donor’s. Red blood cells are essentially sacks of hemoglobin and don’t contain DNA, so only white blood cells are the issue.
GEDmatch is a free website with tools that enable genealogists to use DNA and family trees to search for relatives. It has been in the news lately because it has recently been used to to identify criminal suspects. Tracing individuals based on their relatives DNA and family trees are only part of what GEDmatch allows DNA researchers to do. Other tools are available on GEDmatch, including one called "Are Your Parents Related?" (AYPR, for short).
WHAT IS NPE? BY STEVEN KING
A Non- Paternity Event (“NPE”) was originally the term used to explain the break in the paternal line for a male. In genetics and genealogy, the term signified that a person’s attributed father was not their biological father and that the family surname did not match the bloodline. Someone was presumed to be an individual’s father by the individual, the parents, their family or the healthcare practitioner involved. Today, the term is used more broadly to describe a break in the family line; for males or females with a misattributed father or mother. The acronym “NPE” is also used to describe individuals who learned they were conceived as a result of the event. Some also use the acronym to mean “Not Parent Expected.”
Megyn Kelly is a host on NBC who covers a lot of DNA topics on her weekday talk show, Megyn Kelly Today. Last week, she invited myself and a few other guests to talk about either personal or professional experiences related to DNA shocks or surprises. If you missed it, you can view the three segments below.
June is Alzheimer's Awareness month which seems an appropriate time for an updated post on Alzheimer's disease.
I've compiled resources about Alzheimer's disease genetic testing into one place (see the bottom of this post). I'm also including some direction on how to involve a genetic counselor when you prepare to open your 23andMe report on late-onset Alzheimer's disease risk (or a third-party report run on a raw data file, like Promethease).
Panic doesn't have to be part of the equation if you find out you have an elevated risk of developing Alzheimer's disease.
The advice and resources included below can help reduce or stop the panic before it has a chance to start.
If you haven't worked with a genetic counselor before, a genetic counselor is a great partner to have when you are deciding to have DNA testing or at the point of learning DNA results that could have a profound effect on your outlook for the future.
I can speak for all genetic counselors when I say we aren't trying to keep you from your genetic information. We aren't trying to meddle with your rights or get between you and knowledge about yourself. Genetic counselors know you can handle what you find out.
It's our job to get you the correct information and help you locate support you when you need it.
After your results are back but before you open your Alzheimer's risk report, consider finding a genetic counselor to have on call. Schedule an appointment with them*, and open your report together with your genetic counselor on the phone or over video chat.
*Ways to do that include scheduling with me here or someone else in the Genome Medical network here* or searching for someone located near you here. Watershed DNA and Genome Medical services available only to U.S. residents at this time.
You'll have instant access to information, support, and next-steps if you find out you carry an elevated risk of late-onset Alzheimer's disease. If you find out your risk does not appear to be elevated, you can use the rest of the time with your genetic counselor to review your family and personal medical history.
Your genetic counselor can explain other types of testing that might fit your needs.
It might be carrier screening if you're planning a family, or a proactive genetic screen if you're healthy but curious about future risks. Diagnostic testing might be what you need if you already have a medical condition or health symptoms.
A one-time appointment with a genetic counselor -- whether you're having unexplained medical issues or are healthy without any specific genetic concerns -- can set you on the right path. At-home DNA tests merely skim the surface.
Find a genetic counselor to be your partner, and keep learning about the different tests available. Some DNA tests are medical-grade and some are not, so make sure you've taken the right one.
Learning about your genetic risks can be empowering if you know what to do with the information you learn.
Your Alzheimer's risk report might be ready and waiting for you, but don't feel pressured to open it right away. Read some of these articles, then look for a genetic counselor to have on the line, if it feels right to you.
Watershed DNA blog post: Should you do a home DNA test for Alzheimer's?
Watershed DNA blog post: Need help fighting the urge to open your Alzheimer's disease risk report?
Watershed DNA blog post by guest writer Jamie Fong: Alzheimer's disease - key points
apoe4.info article: Thinking about testing? APOE4.info is a support organization founded and operated by individuals who have found out they carry an elevated risk of Alzheimer's disease based on genetic results. Not all of the content on the site has been developed or reviewed by medical/genetics providers and researchers. Check with your doctor before you make changes based on what you read on the site.
Article from the Philadelphia Inquirer - highlights one person's experience learning about her elevated Alzheimer's risk and advice and resources for others
Readers who are in the age range of 60-75 years old, you have a chance to help make a difference for your children and grandchildren by enrolling in the Generation Program. There are some particular criteria for participants, so read more here to find out if you're eligible.
Click here to schedule your session with Brianne Kirkpatrick, MS, LCGC.
I am so excited and honored to be part of the advisory board for the newly-announced project to help adoptees and birth family access DNA testing. This program will make DNA kits available for free until April 30, 2018 to a set number of adoptees and birth family members worldwide who want to make use of DNA testing and genetic genealogy to identify one another. The program just announced its expansion beyond the US to worldwide within the past few days. You can read more in the press release below (revised to reflect global availability) and follow links to the site where FAQs about the program are answered.
MyHeritage Launches DNA QUEST — A Major Pro Bono Initiative for Adoptees and their Biological Families to Find Each Other via DNA Testing
MyHeritage will distribute 15,000 DNA kits, worth over one million dollars, for free in the first phase of this initiative
TEL AVIV, Israel & LEHI, Utah, March 1, 2018 — MyHeritage, the leading global destination for family history and DNA testing, announced today the launch of a new pro bono initiative, DNA Quest, to help adoptees and their birth families reunite through genetic testing. As part of this initiative, MyHeritage will provide 15,000 MyHeritage DNA kits, worth more than one million dollars, for free, with free shipping, to eligible participants. Participation is open to adoptees seeking to find their biological family members, or anyone looking for a family member who was placed for adoption. Preference will be given to people who are not able to afford genetic testing. Application opens today on the project website, www.dnaquest.org, which includes detailed information about the initiative.
Many of the approximately 7 million adoptees living in the USA today (and even more globally) are searching for their biological parents or siblings. The search is time-sensitive, because every year some of the people who are searching pass away, missing the opportunity to reunite. Currently, the main avenues for adoptees and their biological parents to find each other are adoption agencies, registries created for this purpose, and genetic testing. With formal adoption records being unavailable or difficult to obtain in some states, genetic genealogy opens new doors in the search for relatives, and MyHeritage believes everyone should be able to access this valuable technology.
To maximize the potential of this initiative to successfully reunite families, MyHeritage has set up an advisory board of top experts in the fields of genetic genealogy and adoption to guide and support this initiative on a voluntary basis. This alliance ensures the best possible professional support for participants, with each advisory board member bringing unique expertise. The advisory board includes: CeCe Moore, founder of DNA Detectives; Blaine Bettinger, The Genetic Genealogist; Richard Weiss of DNA Adoption; Richard Hill, DNA testing adviser; Katharine Tanya, founder of Adopted.com; Brianne Kirkpatrick, founder of Watershed DNA; Pamela Slaton, investigative genealogist; Leah Larkin, The DNA Geek; and Amy Winn, President of American Adoption Congress.
DNA Quest is an expansion of another one of MyHeritage’s successful pro bono projects to reunite adoptees from the Israeli Yemenite community with their biological families. In that project, MyHeritage facilitated successful reunions between adoptees and their biological siblings, in challenging cases where the protagonists were searching for each other without success for more than 60 years.
“We have a company culture of using our resources and technology for the greater good. In this spirit we’ve initiated several significant pro bono projects, such as returning looted assets from WWII to their rightful owners and documenting family histories and traditions of tribal peoples who lack access to modern technology. DNA Quest is a natural extension of these efforts,” said MyHeritage Founder and CEO Gilad Japhet, who conceived DNA Quest. “There is a great need for a project like this — to help adoptees find their biological families — and we are the right company to take it on. We’ve already successfully reunited many families and are confident that through this initiative, together with a wonderful alliance of top experts, we’ll be able to utilize the power of genetic genealogy to help many more.”
“Few things are more fulfilling than a life-changing adoptee-family reunion”, said CeCe Moore, founder of DNA Detectives, the largest group on Facebook that brings together volunteers with genetic genealogy and searching experience, and those seeking biological family. “I’m very excited to be a member of the DNA Quest advisory board and look forward to assisting participants find the lost loved ones for whom they are yearning."
There are already more than 1.25 million people in the MyHeritage DNA database — one of the fastest growing among the major DNA companies. Additionally, MyHeritage is unique among the top three DNA companies to offer the option to upload DNA results from other test providers for free. The company is uniquely positioned to reunite families and has indeed facilitated many emotional success stories, with more taking place in every passing day.
Adoptees and family members searching for their biological relatives can apply for a free MyHeritage DNA kit at DNAQuest.org through April 30, 2018. Participants will be selected, and their free DNA kits will be shipped to them by the end of May 2018. Results are expected as early as July 2018.
Those who have already taken a DNA test with another company can upload their DNA data to MyHeritage for free and participate in this initiative as well.
The privacy of all applicants and participants will be strictly enforced. The DNA is owned by the participants and not by MyHeritage. The company has never sold genetic data and has pledged to never do so in the future without users’ explicit consent. DNA Quest is a pro bono project without gotchas or caveats.
MyHeritage is the leading global destination for family history and DNA testing. As technology thought leaders, MyHeritage has transformed family history into an activity that is accessible and instantly rewarding. Its global user community enjoys access to a massive database of historical records, the most internationally diverse collection of family trees and groundbreaking search and matching technologies. Launched in November 2016, MyHeritage DNA is a technologically advanced, affordable DNA test that reveals ethnic origins and previously unknown relatives. Trusted by millions of families, MyHeritage provides an easy way to find new family members, discover ethnic origins, and to treasure family stories, past and present, for generations to come. MyHeritage is available in 42 languages. For more detail, visit www.myheritage.com. DNA Quest is available on www.dnaquest.org.
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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: