medical genetics

Should people having at-home DNA tests for medical purposes?

Should people having at-home DNA tests for medical purposes?

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.

DNA testing and family medical history: a short intro for genealogists

DNA testing and family medical history: a short intro for genealogists

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.  

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!

“Pharmaco-Whaat?! Understanding pharmacogenomic testing and how it could aid your doctor in prescribing medication

“Pharmaco-Whaat?! Understanding pharmacogenomic testing and how it could aid your doctor in prescribing medication

Many of us take medications to stay healthy and treat conditions such as depression and cardiovascular disease. However, some people respond differently to some medicines, and part of that difference is due to our genetic makeup. Genetic tests that identify and characterize these variations are available, and you may be wondering if those tests are a good idea for you. Here are some points to consider:

An update on "All of Us" - Enrollment Centers have been announced

The National Institutes of Health's "All of Us" study is a project I provide updates about every so often. Initially named the Precision Medicine Initiative when launched, it is a project whose announcement by President Barack Obama received bi-partisan applause and support. And for obvious reasons.

Visit https://allofus.nih.gov to read more about the project.

Visit https://allofus.nih.gov to read more about the project.

Genes are not political. Chromosomes aren't Democratic or Republican or Independent. We all have DNA in the cells of our body, 99.9% of it almost entirely the same as every person we run into in our lives (and even those we don't). But any day, any of us could get sick. And some medicines or treatments may work on us that don't on others (and vice versa). 

Sometimes a single change in the DNA sequence can make all the difference.    

I'm not privy to insider knowledge on the progress of All of Us, I just keep my eyes peeled for updates and pay attention when they appear. I sense things aren't running entirely smoothly (see some Twitter snark below, posted a few weeks ago). But it is a big project with lots of players involved. And in spite of great challenges a big project like this faces, announcements of progress continue.

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The latest news to come out is that the first three enrollment centers have been named for the project. They are three sets of health care provider organizations (in other words, hospital-research networks) based in Wisconsin, Alabama, and Florida.

Enrollment centers are the institutions that receive funding to coordinate the consent and enrollment for volunteers of a study. Sometimes, you'll have only one center for a study (here's a great site for searching for research studies, by the way). But for a project as big as All of Us is planned to be, multiple centers will be necessary.

Participants don't necessarily have to receive any care at these locations to participate. They are simply the enrollment hubs and coordinate the education and consent of participants. In other words, they're the wheels on the bus that make the project go all 'round the town.

From the start, it has been a stated and central goal of All of Us to enable discoveries that will be useful for all Americans. In the past, biomedical research in the U.S. has more often enrolled (and therefore given advantage to) Caucasian and male populations. There ought to be a way, in a project of one million people, for every group - minority and majority - to be represented. Anyone who has criticism for All of Us for trying to do this, well, I am just going to call you Scrooge. Someone needs to try, and they are doing it. Their choice of institutions for enrollment centers is first evidence All of Us is keeping their promise to make sure traditionally under-represented populations will not be under-represented in this project.  

I want to see this project succeed and hope it does. Everyone deserves to benefit.

If you're an early participant in All of Us (or know of someone who is), please reach out to me. I'd love to interview you for a post on my blog and ask what it was like to join, and why you did.   

 

Debuting this week! YouTube videos to encourage sharing of genetic diagnosis of LHON in a family

Leber's Hereditary Optic Neuropathy is a disease that causes sudden vision loss in young adults. It's a highly disruptive condition which affects all aspects of living for someone who once had but  suddenly lost the vision that once provided independence, allowing them to drive, read, or decipher the faces of loved ones.

Many adults with LHON regain their independence by adapting to life with blurry central vision with the support of family, friends, and resources. Connecting with and learning from others affected by the condition has been key for many. 

LHON has a genetic cause based in the mitochondrial DNA that can be identified in most people with symptoms. Once a genetic diagnosis is made in a family, other members can be tested to find out risk. Early diagnosis means clinical trial enrollment may be possible, and for those to become affected in the future, increased treatment options are expected.

I've been working with Lissa Poincenot of the LHON Project for the better part of a year to try to help those with LHON communicate about the condition to other family members who may be at risk but not yet know. The result was two videos (posted publicly on YouTube; linked below) which I present to the audience at the annual LHON conference on June 30th. This year's conference takes place in Alexandria, Virginia. Shout out to Global Genes who provided support with grant funding to UMDF and LHON Project!

I'm hopeful for a positive response, and for feedback that will make other projects like this possible in the future. It's amazing to see genealogy and medical genetics coming together this way, and I feel so lucky to do what I do and be a part of projects helping other people, some of whom I'll never know or meet. 

Curious about understanding more about LHON? The videos YouTube videos are short, and you'll learn more about the condition. The LHON website and the LHON Facebook group are great resources as well.

Link to video for individuals with LHON

Link to video for reaching close and distant family

 

 

 

 

MTHFR, and the Watershed DNA approach to DNA testing

There is a growing issue of certain practitioners recommending genetic testing for MTHFR so that they can sell you supplements.  A 2016 article in Forbes magazine highlighted this issue and the inherent conflict of interest it creates. If someone is trying to sell you supplements and is recommending MTHFR testing beforehand, they have likely received biased and incomplete education on MTHFR and its effects on the body.

I have been familiar with the MTHFR gene for over a dozen years, so this is a topic I am used to discussing. My first work with results of MTHFR testing came as a genetic counselor in the prenatal field from 2005-2011. I'm seeing a resurgence of MTHFR results again, due to the push for testing amongst those recommending and pursuing direct-to-consumer tests.

I find it really difficult to counter so much of the information that is being spread about MTHFR on the Internet because there is so much of it. The naturopath community has taken this gene and run with it -- but the conclusions naturopaths, nutritionists, and even some chiropractors are making about MTHFR and recommendations on methylfolate supplementation are not consistent with what research has shown. 

The medical genetics community including the American College of Medical Genetics and the National Society of Genetic Counselors feels the research does not support the claims being made by nutrigenomics entrepreneurs, and there is a divide between the medical genetics and naturopath communities which only seems to be growing wider. Here's another summary by ACMG that lays out the evidence we know about MTHFR and variants found in the gene.

During the time I was a prenatal counselor, we stopped testing the MTHFR gene because we found that the results were not useful. Variations in MTHFR are so common and are associated with (but not directly linked to) a long list of varied conditions. MTHFR can affect homocysteine levels (but not always), and homocysteine is what we are concerned about when it comes to adverse outcomes in pregnancies and risk for other things like blood clots.

We replaced genetic testing of MTHFR with direct testing of homocysteine levels in the blood, and as far as I am aware, this is still the recommendation in the medical/obstetrical community today. 

I'm sharing this information because I feel it is important for my readers to understand the debates going on surrounding nutrigenomics and DNA testing. I continue to educate myself on matters related to MTHFR, new research, and current recommendations and guidelines. I am open to the possibility that there may be something useful that can come from genetic testing for nutrigenomics purposes. However, the more research that comes out, the more convinced I become that the nutrigenomics industry is going in the wrong direction for MTHFR.

It is important not to over-emphasize any one gene to exclusion of others, when there are approximately 20,000 genes and countless environmental factors to consider when considering the way the human body functions. The biological cycle in our cells that controls our metabolism and homocysteine levels involves dozens, if not hundreds, of genes.    

If you have questions about a genetic test result or a health issue that seems to be passing through your family, I would love to work with you. My approach is to focus on the concerns at hand for my clients, and to include a review of personal and family health history. Often times, medical history is more important and informative than the results of any genetic test. 

If you have results already available, I will go through those with you and put all of the test and history information together to create an overall assessment. I offer recommendations on next-steps tailored to you.

For clients who haven't yet had any DNA testing, we'll create a plan that helps you focus testing on your goals. For some people, investigating ethnicity or genealogical connections using an ancestry test is a natural next-step. For others, a health-focused genetic test might be called for. Each person is unique, which means there is no such thing as a one-size-fits-all approach to genetic testing.  

My desire is for all people of the world to find connection and commonality with others and to find meaning and truth in life, whether this ultimately involves a DNA test or not. Navigating all of the information out there is tricky, and I'm happy to use what I know to help those who want to include health, ancestry, and DNA in their personal search. 

More resources for you on MTHFR:

MTHFR summary by 23andMe

http://www.genetics.edu.au/health-professionals/mthfr-dna-test

https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation