Available: Presentations to Your Group via Live Video Presentation

Do you know or belong to a group who might like to have a certified genetic counselor speak about 23andMe or another particular topic related to at-home genetic testing? I'm available for this type of live video chat.

A while back, a group of women contacted me to ask if I'd present a webinar to their discussion group. For decades, the group of women had gotten together every month to discuss a topic, and their upcoming topic of choice was 23andMe. Group members had all sent in their DNA and sought a genetic counselor to educate them all about how to understand their reports and use the information in them.

The women's group was in Colorado, and I live in central Virginia, so we arranged for the presentation and discussion to take place over webcam during their regular group meeting time. I shared my computer screen as we chatted, and we interacted with some of the 23andMe online reports live and in real time.  

I could see the room with my video chat functionality, and they were able to see me. We talked about the ever-changing list of health, trait, and wellness reports from 23andMe, reviewed DNA testing for ancestry and for matching cousins and other family, and concluded with a discussion about the raw data files 23andMe allows you to download.

We chatted about what it means to have this type of testing, and I answered questions for the group with the remaining time. It was a fantastic opportunity for me to hear what concerns different test-takers have and it provided an opportunity for them to have a genetic counselor on hand and learn from the Q&As. I don't think any of us wanted the conversation to end at the end of the hour. I could happily chat about this topic for hours on end, if not days!

Any of the women in the group who had lingering questions or specific concerns about their reports were encouraged to reach out to me afterward and find out about scheduling an individual session with myself or a colleague who is in the Genome Medical network. 

A genetic counseling session with a certified genetic counselor allows other factors like medical and family history to be factored in and DNA test results to be viewed in context. Since 23andMe offers a mere sliver of the information contained in your DNA, it's place to start but not to finish. 

Do you know or belong to a group who might like to have me speak about 23andMe or another particular topic related to at-home genetic testing? If you have an Internet connection and an ability to broadcast a computer desktop to a large TV or screen, you're golden. Don't have this capability where your group usually meets? Look into seeing whether a local library would allow you to reserve a conference or meeting room with AV equipment. 

Groups, graduate training programs, and other professional training programs: Reach out to me if you want to find out more about scheduling a web presentation for your group. A live video presentation and a Q&A are a great way to get the most up-to-date information to your group about the fast-changing world of direct-to-consumer genetics.



Rising Like the Phoenix: Mary's DNA Surprise

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Last month I published the first #DNASurprise story, written by Casey who discovered a family surprise after DNA testing. Another person, Mary, has bravely volunteered to share her story as well. 

If you'd like to see your #DNASurprise story shared here, reach out to me. And if you'd like to join a secret support group on Facebook for the DNA Surprise you've discovered about yourself or another person, email me or send me a DM through Facebook. Summarize your surprise and the email address you have associated with your Facebook account so I can make sure the group is a good fit before I add you. I now have one group dedicated to those who discovered misattributed parentage for themselves, and a second general group.  

Here is Mary's story. She deserves our acknowledgment for the strength it took for her to recount her heartaches and even greater respect for the ability to rise from them.


It took almost two years after my 23andMe results, but I can say this and mean it now:

I feel like the Phoenix rising from the fire.

My story is one of shock and disappointment in the family of my childhood, the uncovering of lies and truths, and the emergence and growth of new family and new relationships after DNA testing.

I was 51 and received a call from a maternal cousin. “So sorry…your mum is dead.” 

I had a very erratic relationship with my mother, and the last conversation I recall between us was regarding a conversation I had with a woman I had known all my life. We had gone to school together. I told my mother this woman had stopped to tell me we shared the same father. 

My mother wasn't very nice as I recounted this story to her.

In fact, she staunchly denied it and accused me of trying to cause trouble in the family.

We never spoke again, and that was seven years before her death. She had been ill for some time and hospitalized for a week prior to her death, but no one had reached out to tell me.

The next few weeks following her death, I was in shock. I reached out to my step father again after many years of not speaking. Two months after my mother’s death, we had a conversation. “Well, it was never a secret between me and your mum that xxxx was your father. If you had asked me directly I would have told you.” 

I'm not actually sure what my response was. He then said, “Oh, you really didn't know? I'm so sorry. I know where he is, I'll take you to see him now.” Again, I'm can’t recall my response to him. 

The time during and after this conversation was a blur.

I drove home in shock and cannot recall what I said to my family once I was back home. 

A few months later, I contacted the woman who told me we shared a father and asked her to meet me. She kindly agreed to test her DNA with the kit I had brought along, and six weeks later the results came in. They showed a 99% chance of her being my half-sister. Yet, I doubted it; I kept thinking that perhaps we were in the 1% that were related in some other way.

Twenty years before, I had taken a massive step and gone to see my mother’s first husband; he was the man named as my father on my birth certificate. If he wasn't my father, then maybe she wasn't my sister, I reasoned. 

Almost a year later, I was still trying to ignore what I knew. I just decided my mother wouldn't lie, and someone in the family would have told me before if it were true. It must have been all wrong, and the woman who said we shared a father was not actually my half-sister.

I had done a 23andMe test sometime during the year for health purposes, so I decided to buy this woman one for Christmas. 

Deep down, I think I was double-checking to see if the first test was wrong. 

It was not wrong. My biological father died a week before the woman’s results came in; the results arrived eleven hours before his funeral. I remember just staring at the screen and seeing a message come in from the woman I knew saying, “Hi, sis.” 

I was totally stunned.

My mind was spinning. There were so many pointers from the past. I felt a fool for not realising why my grandmother had once said to me, “Don't believe all you hear about your father, he wasn't a bad man.” This was strange to me at the time as my mother’s first husband was one of the most vile men I had ever met. 

The sister of the man listed on my birth certificate as my father, had said, “Are you the one that isn't my brother’s child?” Her brother told me to ignore her, that she was a crazy lady. The differences between me and whom I thought was my full sister were both physical and intellectual. 

My mother had always told me, “If you can’t trust your mother, who can you trust?”

I know now that it was hypocritical of her to say that, but I had believed her. She was my mother. It is hard to get over that type of betrayal.

There are still so many questions I have. I realized later the man who is my biological father had tried to approach me at my mother’s funeral. My Aunty drug him away, which confused me at the time and still does today. Why did she feel she needed to do that? 

Crazier still is that I played with my eldest two paternal half-sisters as a child, and we went to the same school. I was in the same class as my half-brother and two of my paternal-side cousins, and none of us knew I was related to them. My biological father and his children lived around the corner from me, two doors down from my Aunty.

As a child and well into adulthood, I thought the man I later learned was my biological father was a weird man. He used to wink and smile at me when he saw me. He often held conversations with my mother, and his wife used to say hello to my mother. I have a large number of paternal cousins and grew up knowing around half of them. 

It is mind blowing to think that I was with so many members of my family all along. 

After a while, an acceptance set in, and I was able to start seeing the positive side. The shock subsided, and I was able to accept the results of the DNA tests. I have begun to feel happy about what I now know about myself, my origins, and my family.

For instance, I am very, very happy the man listed on my birth certificate is not my biological father. I'm also ecstatic that the sister I thought was a full sister is only a half-sister. I always wanted brother…now I have three! My new family are completely different and most of them want me in their lives.

Today, I have a fantastic relationship with one of my paternal sisters, a paternal niece whom I'm close to, and a paternal cousin who is like my best friend. 

My life has changed, and the lies and deceit of the past cannot be erased. 

But now, I am complete. I have my identity. I look at in the mirror, and at my children and grandchildren, and can see who we truly look like. It feels good to know they will never grow up with a false identity, that they know from which family they descend.

I am whole for the first time. I know who I am. 

- Mary, guest blogger


GEDmatch, raw data, and solving violent crimes with genetic genealogy


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 genealogist 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).

As of June 27, 2018, the number of known and reported cases where a murder suspect or crime victim/missing person has been identified with the assistance of data from GEDmatch is eight cases, per this tweet by Yaniv Erlich:

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The testing companies (like 23andMe, AncestryDNA, and MyHeritage) are not involved, other than their role in providing testers access to their own raw DNA data files to download to their computer and then upload to GEDmatch. GEDmatch doesn't reveal the genetic sequences of people who upload their data, rather they display who else in the database is a genetic family match, and how closely related they are estimated to be.

Some matches have included information about themselves that make them identifiable/traceable via other means (Facebook, etc.) or they have a family tree attached to their kit information that identifies their ancestors.

It is from this match data in GEDmatch that an experienced genealogist can then build a family tree backward in time to grandparents and great-grandparents, and then forward in time to construct a tree of present-day, living descendants.

Make sure to learn before you test about your rights as a consumer...and know what your data may be used for before you move your raw files out from the protection of the company where you originally tested.

I respect the wishes and desires of individuals who are considering testing, and I think that testing is for some people but not for everyone. Personally, I am glad to see information about DNA matches used for these purposes. My heart goes out to all of the families of violent crime victims out there who have renewed hope that testing may solve a the crime that took the life of their loved one.

GEDmatch won't be able to solve every crime or identify every John and Jane Doe, but thanks to the hard work of CeCe Moore and everyone who is choosing to keeping their data in GEDmatch, some families will get a chance at better closure in the coming months and years.

Open your at-home DNA Alzheimer's report when you're already on the phone with a genetic counselor

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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.


Learning from Teaching Together

Meet Beth and Rachel! They make a perfect Base Pair as they've paired up multiple times to co-teach classes about genetics to students of OLLI at Duke University. OLLI institutes were founded with the goal of allowing every person, no matter age or life stage, to continue learning in the university setting.

Instruction about DNA was not likely part of the grade school or high school curriculum for many current OLLI students, so how exciting and important they be given the opportunity today! It's never too late in life to learn something new, and everyone should have a chance to learn about DNA, the fascinating molecule that it is. 

A special shout-out goes to Nancy Callanan, Rachel's genetic counseling program director at UNC Greensboro, for being the person who connected Rachel and Beth. 

Hooray for genetics educators...and for the match-makers who help pair talented individuals into dynamic duos!    

Beth and Rachel stand in front of Bishops House in Durham, North Carolina. This is one location on the Duke University campus where OLLI courses are held.

How did you get interested in genetic counseling?

Beth: I was working in Dorothy Warburton's cytogenetics lab at Columbia University when a student arrived for her rotation [educational internship]. She explained that she was in the Genetic Counseling Graduate Program at Sarah Lawrence College in Bronxville, New York. Although I loved lab work, I always wondered what people did with the information they got from their results. I applied to Sarah Lawrence the following year, 1975, after talking with her. 

Rachel: I first learned of genetic counseling when I was a junior in high school – my genetics class visited the Greenwood Genetic Center in Greenwood, South Carolina where I heard about different career options in the field of genetics. Genetic counseling clicked for me—I loved genetics, but wasn’t sure if lab work or med school was for me, so genetic counseling was the perfect fit.

Did you learn about genetic counseling from someone in you knew, or did you influence someone else to attend school for genetic counseling? 

Beth: Over the years, I have spoken to numerous people and am proud to say several have become genetic counselors--and leaders in the field too. I still take the opportunity to speak about a career in Genetic Counseling when students contact me via the NSGC website. 

Rachel: Over the years, I’ve met with many high school and college students to discuss genetic counseling as a career option. A number of them have gone on to be GCs, including a college boyfriend’s younger sister!

What's your special connection to your Base Pair buddy? 

Beth: Rachel and I co-teach a course. (See her terrific answer).  Her research skills and current genetics knowledge mix well with my clinical expertise and perspective. Her technical/computer skills are outstanding and in my "advanced age" I have learned a lot from her. She even taught me how to participate in a Twitter chat! 

Rachel: We both live and work in Durham, North Carolina and co-teach a continuing education course through Duke’s Osher Lifelong Learning Institute (OLLI) entitled “Healthcare Personalized for You: Understanding Genomics and Precision Medicine.” Our knowledge and experience complement each other, offering a great opportunity for OLLI students to better understand genetics, genomics, and genomic testing. 

What else would be of interest to readers? 

Beth: Working with a GC from another generation has renewed my enthusiasm for our field and the NSGC. Genetic Counseling was great when I started in the '70's and will continue to be great in the future. The field has grown tremendously and, I think, will continue to grow as an integral service in our healthcare system, especially with GCs like Rachel leading the way. 

Rachel: Our age difference make us an interesting and unexpected pair, but it has been so fun working together. We’ve both learned a lot from each other. Beth’s life and work experiences have given me a great perspective on how the field has changed over the years, and I’ve taught Beth about Twitter!

More about Beth: Elizabeth (Beth) Balkite has been a certified genetic counselor for over 30 years. She is an alumna of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She worked as a genetic counselor in Connecticut at the University of Connecticut Health Center, Yale University, and Norwalk Hospital prior to joining Genzyme Genetics as manager of Clinical Genetics Services in 1993. From 1998-2006 she worked as the Genetics Education Strategy Advisor for GlaxoSmithKline. She continued as a genetics educator in several capacities before retiring in 2012.  She has studied her own family history for three years and is now one of the few genetic counselors to practice and teach genetic genealogy. She is an instructor at the Osher Life Long Learning Institute (OLLI) at Duke University in Durham, NC, where she co-teaches two courses: “Applying DNA to Your Family Tree,” and “Personalized Medicine”.

More about Rachel: Rachel Mills is a research genetic counselor at Duke in the Center for Applied Genomics and Precision Medicine. Her research work focuses on implementation of precision medicine, particularly pharmacogenetics. Rachel is also a consultant with PWNHealth, and provides tele-genetic counseling services. Rachel is passionate about genetics education and will be returning to school this year to pursue a PhD in adult continuing professional education. She is an active volunteer with the National Society of Genetic Counselors and the NC Medical Genetics Association, and regularly serves as a thesis committee member for genetic counseling graduate students.  

Like reading the Base Pair series? Read about my past couples including:

 a husband/wife couple of genetic counselors who met in graduate school  

sisters-in-law who earned their degrees at different times

friends who once had a genetic counselor/patient relationship 

a mentor/mentee couple who now run a business together

Know a pair of genetic counselors who share a unique relationship? Perhaps two GCs who job-share or who work as a pair to cover the needs for an institution or geographic region? Send your recommendations to me, and maybe you'll see them highlighted in a future post!