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.
The relatively-new genetic editing technology CRISPR is in the news this week.
The first report of gene-edited babies has come out, reported by a researcher in China who was trained and degreed at a university in the United States. Here’s a Slate article with more details if you haven’t heard about this breaking story yet. This Vox article gives a 101 intro to CRISPR.
CRISPR is a technology that uses a specially-designed protein with a short DNA segment attached to it to intentionally break a gene so that it doesn’t work and replace a region of DNA.
The Base Pair posts are a series I started to highlight professionals in medical genetics who are a stellar team or have a special history that bonds them, like genetic base pairs A, T, G, and C in a DNA double helix. This Base Pair post is about Janet and Marc Williams, a beloved pair in the world of medical genetics and genetic counseling.
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:
With the Base Pair series on my blog, I aim to put faces to the professional title of "Genetic Counselor" and share the stories of my fellow genetic counselors, especially for those who perhaps have never met or spoken with one of us. There are thousands of masters-trained genetic counselors in the United States and worldwide, and our stories and the work we do are as diverse as the DNA we carry. The newest Base Pair, Stephanie Cohen and Lola Cook Shukla, have been friends and coworkers for years and once stepped into the roles of patient and care provider. I asked the two to share their story, and what makes their relationship unique.
How did you get interested in genetic counseling?
Stephanie: I was working in a genetics laboratory doing basic research during a college summer, and I HATED it…..I was a little freaked out about what I would do with my biology degree because I knew I didn’t want to go to medical school and wasn’t cut out for bench-side research. I passed by a poster every day in the hallway of the biology department at CWRU – “What can you do with a biology degree?”, so I ordered a copy for my dorm room. I stared at it every night, and the two careers that stuck out to me were “mushroom farm worker” (really??) and “genetic counselor” (interesting!). I was intrigued because I had always like genetics, and I like the idea of working with people. I contacted our guidance office, they helped me track down a genetic counselor at University Hospitals. After speaking with her for 15 minutes, I knew that was what I wanted to do!
Lola: In my high school biology class. I had a very progressive teacher who was already aware in 1982 of the potential role of genetic counselors. Over a model of a human skeleton, where I was reciting bones, he told me I really needed to do more with myself!
Did you learn about genetic counseling from someone you knew, or did you influence someone else to attend school for genetic counseling?
Stephanie: I hope I have influenced someone! I have had a lot of students job-shadow me over the years, and I know several eventually went on to become genetic counselors (I can name at least 5). Claire Harwood, a current rock-star co-worker, shadowed me a few times while she was in college, and then volunteered as an intern in our office for a year before being accepted to graduate school. I can’t say that I influenced her to become a genetic counselor because I’m pretty sure that’s what she wanted to do when she first met me, but at least I didn’t drive her away, and she ultimately came back to work with us!!
Lola: I am constantly urging others to consider the field of genetic counseling or other genetic careers. It is a hot profession and has much potential to do good for others!
What is your special connection to your Base Pair buddy? How did you meet?
Stephanie: When I moved to Indianapolis, Lola was one of the few other genetic counselors in town. We met at the inaugural meeting of what ultimately became the Indiana Network of Genetic Counselors. A friendship developed over the years, beyond a collegial relationship, that includes regular get-togethers with a few other well-seasoned genetic counselors. Lola covered a maternity leave for me, adding a cancer genetics hat to her experience and taking good care of patients for me during my absence.
Professionally, we’ve worked on many projects together, including the passage of licensure in the state of Indiana and developing resources for the Indiana Network of Genetic Counselors. We’ve been a sounding board for one another over the years throughout career and personal life changes. I admire Lola’s fearless ability to take on new areas of expertise, learning what she needs to know completely and with great dedication. She is a true advocate for patients and our profession.
Lola: I know Stephanie as a good friend and top-notch cancer genetic counselor. I think we met through our overlapping jobs at a local hospital, but I really do not remember well! We go out socially for dinner with three other genetic counselor friends in the area who have bonded over the years. At our genetic counselor dinners, we laugh, talk work and family. Workwise, I know Stephanie from taking a prenatal job in the same maternal-fetal medicine department where she counseled prenatal and cancer patients. Thus, we have a work connection as well. I covered several weeks for her during a maternity leave counseling patients in the familial cancer risk center where she now works. I gained a huge and new respect for what she does as I witnessed the emotions of patients and families who had gone through so much as they dealt with familial cancer and risks to their relatives.
What’s the unique aspect to your relationship beyond being coworkers and friends?
Stephanie: I have had the privilege of providing genetic counseling to Lola for her family history of cancer. She was sweet to consider if I would feel uncomfortable in this role, considering the potential that I may have to give her difficult news. It is courageous to open your private life and past history to any medical professional, and can be even more difficult with a friend and colleague. I was honored and humbled that Lola would feel comfortable doing this with me. We had a frank conversation prior to her appointment about this, reassuring each other that we each felt comfortable in this different relationship.
Lola: I began thinking more about my risk for cancer after my father developed his 4th primary cancer and my mother was diagnosed with breast cancer. I began asking Stephanie questions informally about my family history of cancer and what she thought. As the years passed, more knowledge and genetic testing became available and I then made an appointment with her in the familial cancer risk center to formally talk about my cancer risk and testing options. Eventually, I decided to proceed with testing. I was worried about Stephanie potentially having to give me “bad news” from my test results. I did not want her to feel bad as a friend. She was great talking this out with me during our counseling session. It truly was a gift to have such a wise, open, and good friend to handle sensitive information and feel comfortable with it!
We both are lifelong learners and get very excited talking to each other about the changes in genetics and our field. We also enjoy sharing Indian and other exotic foods!
More about Lola and Stephanie:
Lola Cook Shukla is a genetic counselor with a broad background who has worked in pediatric, prenatal, and adult genetics. She also has worked in industry as a medical research analyst. Currently, she specializes in the genetics of Parkinson's disease, providing remote genetic counseling to participants who are part of a large Parkinson’s disease research study, sponsored by the Michael J. Fox Foundation. Lola is interested in new and innovative ways to provide genetic counseling services and serves on a working group developing practice guidelines for telegenetics for the National Society of Genetic Counselors (NSGC) and also will be serving as co-chair of NSGC’s Health Information Technology Special Interest Group (SIG) this upcoming year.
Stephanie Cohen is a genetic counselor who provides in-person and remote genetic counseling via telemedicine for hereditary cancer risk at St. Vincent Health in Indianapolis. Stephanie is interested in improving access to cancer genetic services, and serves as the chair of the National Society of Genetic Counselor’s Service Delivery Model subcommittee. She is active in training genetic counseling students as an Adjunct Assistant Professor at Indiana University as a clinical supervisor and co-instructor for a Cancer Genetics course. She has multiple publications in the field of cancer genetics and genetic counseling service delivery.
Like reading the Base Pair series? Read about my first two couples - a husband/wife couple of genetic counselors who met in graduate school and sisters-in-law who earned their degrees at different times.
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!
Never stop doing the right thing, especially when it comes to extending compassion, acceptance, and support to those affected by stigma.
This lesson became crystal clear to me over the past week.
I recently posted a link on my social media outlets to an online article at TheRoot.com. I was asked by Dr. Henry Louis Gates, Jr. to comment for the article on genetic risks associated with cousin marriage and childbearing.
In my response, I clarified that although slightly increased, reproductive risks to offspring of cousin couples do not differ much from that of the general population.
As a rule, few people comment to me on individual posts that I put up on my social media.
This one was an exception.
I have been teased and mocked privately for my quote, for willingly commenting on such a topic, and for failing to express disgust and rejection of someone who would dare to date a cousin.
The comments section of TheRoot.com article is even worse. It is filled with scathing comments from posters, some anonymous and some willing to place their name proudly next to hateful remarks.
This has to stop.
The shaming and the stigma surrounding incest and consanguinity hurts people. It hurts couples who feel confused and conflicted. It's often devastating to the children of these couples who find themselves surrounded in a culture that would treat them as less-than-human if the origin of their conception were widely known.
I work individually with the offspring of couples who were family to one another. Many of these individuals are adoptees who never knew the circumstances of their origins until direct-to-consumer DNA testing became available.
The information was discovered incidentally, as a result of someone taking the raw DNA data from an ancestry test and running it through a type of DNA analysis tool that looks for a genetic feature called high runs of homozygosity (ROH).
The individuals whose DNA reveals their parents are related have been forced to grapple unexpectedly with what for some is extremely difficult information. Some have equated the emotional journey to that of intense and unanticipated grief, like that experienced when someone close to you dies unexpectedly.
But when you lose a loved one, others offer you condolence and support.
Those who discover high ROH do not receive this support.
They keep their secret, and they grieve in private. They do this out of necessity, not choice.
They are surrounded by a culture that mocks and judges them for something for which they had no control and for which they are not to blame.
They are 100% human, like you and like me.
They matter to the world, no matter who was mom or dad.
Yet they question it.
Luckily, the children of cousin couples and other closely-related parents have begun to find one another and have formed a secret online community. They share stories and support.
Because of their hard work to heal themselves and to help others -- and because of work of professionals outside of the group like CeCe Moore -- there are growing resources.
There now exists support where once was only a void.
The High ROH Infosheet was created for this growing community.
It is the most often visited resource on my entire website.
I hope you will stop and read through it.
Even if it doesn't apply to you, please share it in your DNA testing circles.
You never know who might benefit from it.
Tease me if you will for being willing to speak up and share a different perspective on this taboo topic.
Just know that it won't ever stop me from providing accurate, judgment-free information in places where I think others might benefit.
Never stop doing the right thing, especially when it comes to extending compassion, acceptance, and support to those affected by stigma.
Virginia is for genetics lovers! The Virginia Association of Genetic Counselors hosted its 10th annual meeting for genetics education in beautiful and historic Charlottesville, Virginia on May 16th, 2016. Watershed DNA founder, Brianne Kirkpatrick, engaged a rapt audience as she presented on opportunities for genetic counselors to meet the needs of home DNA test customers.
The conference sold out two weeks beforehand, so make sure to book your registration early next year!