MTHFR - a new article on Self.com lays out the facts

MTHFR - a new article on Self.com lays out the facts

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.

To Birth Wives…there is growing support for you if you’re the wife of husbands in reunion with a daughter newly-found from DNA Testing

To Birth Wives…there is growing support for you if you’re the wife of husbands in reunion with a daughter newly-found from DNA Testing

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.

A brief note about the diabetes risk report from 23andMe

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.

Here’s the list of limitations you’ll see if you keep scrolling down your 23andMe report.

Here’s the list of limitations you’ll see if you keep scrolling down your 23andMe report.

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!

Recent coverage of DNA surprise support groups by major media outlets

Recent coverage of DNA surprise support groups by major media outlets

The news of just how many people receive surprises about their family matching from DNA tests is spreading.

As a genetic counselor and genealogy enthusiast, I saw this coming years ago (2014) when the first people began finding their way to me in search of support and information.

In anticipation of the growth, I’ve accumulated many resources and posted them freely on my website, I’ve posted the stories of those who have been through these experiences as guest blog posts, and started and administer secret support groups on Facebook.

DNA Quest program increases available free DNA tests by 5,000

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!

Podcasts for the Genetic Counselor audience

Podcasts for the Genetic Counselor audience

I don’t know about you, but I love a good podcast! It gives me something to listen to in the car when driving into the city for an appointment, while out for a neighborhood stroll with my youngest, or folding my family of five’s never-ending laundry piles. This is a reason I am PUMPED that there are now FIVE podcasts in genetic counseling world that can be added to my list! Call me biased since I’ve had the great fortune to be a guest on three of them, but these recordings allow a window into the unique aspects of the work of genetic counselors. Click below to find out more about the topics and guests who have been a part of these podcasts!

Sesquizygotic twins...who knew that could happen?

Sesquizygotic twins...who knew that could happen?

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.

Rare Disease Day 2019 - raising awareness and aiding connections

Rare Disease Day 2019 - raising awareness and aiding connections

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.

Two Sisters Must Decide Whether to Tell a New DNA Sister She’s an NPE

Two Sisters Must Decide Whether to Tell a New DNA Sister She’s an NPE

YOU RECENTLY DISCOVERED A HALF-SIBLING. DID THIS SURPRISE COME OUT OF THE BLUE?

Jessica: I was not surprised to find out about a half-sibling as my dad was single after my mother and him divorced when I was five and did not re-marry until I was 10. He dated frequently during that time, from what I remember. My older sister made the discovery when she submitted her DNA first and found a “close relative” match but did not understand the implications until later.

Recently my sister asked my dad if he would be interested in taking a DNA test for genealogy purposes at which time he admitted he had another daughter. He figured it would come out if he ended up going through with the DNA test.

(Don't) Be Still, My Beating Heart - Part 2

(Don't) Be Still, My Beating Heart - Part 2

Heart Disease and why DNA matters

Genes involved in the function of our cardiovascular system differ, ranging from those involved in the structure of the heart, the shape and density of the muscle cells and connective tissues, and even the function of the cells involved in electrical signals that tell the heart to pump. Genes can even influence how much cholesterol our bodies create. (You read that right! Not all cholesterol comes from our food!).

(Don’t) Be Still, My Beating Heart

(Don’t) Be Still, My Beating Heart

Valentine’s Day has come and gone, but it doesn’t mean we stop talking about hearts! February is Heart Month, which makes it a perfect time to discuss heart health and how genetic counseling and DNA testing might help you understand your chance of heart disease.

Helping everyone get connected to reliable information to understand DNA testing - whether for ancestry purposes or medical - is a central goal of my blog, so I’m taking a detour from my recent posts on family matching surprises to visit this DNA health topic. This posts kicks off a three-part series on DNA and heart health. Part one will cover the basics before we dive further into genetic counseling and at-home tests and third party reports that give information related to cardiovascular issues.

Our genetics can contribute to a chance for heart issues, but it’s not the only factor. Read on to learn more!

“I am thankful that she told me the truth when I asked” - Christa’s Story of a DNA Surprise

“I am thankful that she told me the truth when I asked” - Christa’s Story of a DNA Surprise

The recorded re-telling of a painful and emotional experience of uncovering a DNA surprise is helpful for others to read. It supports and validates others who are going through the same thing, and it provides insight for the friends, family, and professionals who will be there alongside a person on their journey following the unexpected discovery.

An important point that my next guest blogger, Christa, makes is that receiving the truth from her mother rather than denial held so much value to her. She was so grateful that her mom ‘came clean’ straight away when she came to her with the discovery that the father she had grown up believing was her biological father was not.