In the Base Pair series, we get a chance to learn about genetics professionals (genetic counselors and geneticists) who have partnered up to pursue a project together. I ask them to share a bit of the back-story, how they came to be partnered with their buddy. Origin stories like these can be so powerful because they open our eyes to new and different opportunities. When we see how the paths of others have crossed, it helps us look at the people in our lives in a different way as well.
Books & Things is a book seller for all things genealogy, and we are pleased to announce they now carry The DNA Guide for Adoptees! You can find it for sale in their online book store and also in stock at their on-site book sales at upcoming genealogy conferences. The first conference will be the IHGR Conference in Athens, Georgia, from July 8th thru the 27th, 2019.
I recently got this feedback on The DNA Guide for Adoptees from a reader:
“I learned a lot! Very informative and sensitive to so many things. I especially appreciated how tactfully written the high ROH chapter was (high ROH=when birth parents are related to each other). It’s a sensitive topic but was very tactfully done.
The reader continued on…
May is Mental Health Awareness month, and today I am opening the conversation about a hidden issue that affects millions of Americans and others around the globe. This was a painful post to write as it brought up difficult memories from my past professional work.
The book "The DNA Guide for Adoptees" currently available on Amazon for Kindle preorders is nearing publication! On May 30th, readers can find it on Kindle and in print in a paperback version. My co-author Shannon and I are busily preparing to be ready for reader questions and comments and are planning genealogy and genetics conference booth appearances in the summer and fall.
I’m often asked for my thoughts on whether at-home DNA tests should be used for medical purposes, since they are the only option some people can afford.
This a complex question, but it is one I have thought about and continue to think about.
It’s hard to answer succinctly because of all the moving parts -- access to an ordering provider for clinical DNA tests, additional costs for getting customized support or counseling support, the next steps to take in the medical system if a test is positive, etc. -- I address some of these in my recently published book since I am very close to all of these moving pieces and will write just a bit about it here.
What’s the difference between a first cousin, a first cousin, once removed and a second cousin? I get this question a lot! I usually end up explaining it at least once during Thanksgiving dinner each year.
Cousins who share a set of grandparents because their parents are full siblings are first cousins.
Cousins who share one grandparent because their parents are half siblings are half-first-cousins.
Cousins who share a set of great-grandparents because their parents are first cousins and their grandparents are siblings are second cousins.
“Removed” comes in when the two people in questions are from different generations.
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!
Genealogists are a creative bunch, and I love to read about the information they discover and record about family. Some genealogists track down death certificates and record the official cause of death for ancestors. Others learn medical history from living relatives and write that down. I quietly applaud when I read about someone finding and saving medical information on ancestors and relatives like this!
As a genetic counselor and genealogist, family medical history will always be an important in my eyes. This information is difficult to retrieve once relatives pass away.
There is a lot of misinformation spreading online about a gene all of us have called MTHFR. (We each have two copies it, actually: one from mom and one from dad.)
Self Magazine published an article this week specifically addressing the MTHFR gene and all the facts we know about it. It was written by Tara C. Smith, a person with a PhD in epidemiology. Epidemiology is the study of how different factors influence the health of people, and those with a PhD are trained to understand the outcome of studies at both the group level (large populations) and at the individual level (YOU!).
I read this article yesterday and feel like it is the BEST ARTICLE to date on MTHFR. It will be accessible to most readers, no matter your level of knowledge about DNA or genetics research.
One by one, women have begun to reach out to me. They describe a similar scenario.
Their husbands were unaware they had fathered a child in the past (typically, it's a daughter).
That child is now an adult.
Consumer DNA testing helped reunite the adult child with their father.
These situations involve a lot of emotions for everyone, including the adult child, the father, his wife/significant other, and other children in the family.
23andMe released a new health report this week, and it's quite a bit different from the other types of reports they've released in the past.
Most conditions that affect people (like type 2 diabetes) are complex in origin, meaning that even if it's "genetic," it's not necessarily easily-tested by DNA. This is due to reasons such as polygenic factors being influenced by environmental factors (diet, smoking, exercise, etc.). Polygenic refers to the fact that there can be dozens - if not hundreds or THOUSANDS - of genetic factors involved, each one having only a tiny impact on overall risk.
This is what you'll eventually see if you keep scrolling down your 23andMe report, and it's important to read and understand these things before you take anything away from your diabetes risk as reported by 23andMe. It’s important to know what a DNA test can’t tell you, as much as what it can.
Interested in reading more about this topic?
This article in MIT Technology Review brings some good points to the discussion.
This article by Jeanette McCarthy on Precision Medicine Advisors reviews polygenic risk scores, including a section on why they are controversial and not everyone agrees they are ready for prime time.
This article on the International Society of Genetic Genealogy wiki gives a good introduction to polygenic risks scores as well and is written by a PRS researcher.
If you are looking for a licensed and certified genetic counselor’s help in understanding your report, reach out or schedule with me. I’ll be happy to go through it and answer your questions!