Resources

An unwelcome DNA surprise for a devastated dad: "I just found out my wife was unfaithful and my kids aren't mine"

I recently spoke with a gentleman who was shocked to find out at age 78 that his two adult children did not match him genetically. It was an unexpected finding that rocked his world and enraged not only himself but also his two children. 

"We did not need this, we just did this 23andMe thing for fun," the man explained to me over the phone.

Overview of Ancestry Tests - Honest Product Reviews site

I came across this website and think it provides a great introduction to the different ancestry test options. This would be a great place to start if your main question is, "Which company should I choose to test with?" Check it out!

If you still have questions or want advice specific to your situation, consider scheduling a session with me to talk about your needs. I can direct you to the right test, whether for ancestry purposes or medical/health ones.

https://honestproductreviews.com/best-dna-test-for-ancestry/

Available: Presentations to Your Group Via Webinar

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 have a part-time private practice specializing in at-home testing and am available to give this type of live video chat to your group.

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

at DNA Alzheimer's Report (2).png

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.

-Brianne

 

Click here to schedule your session with Brianne Kirkpatrick, MS, LCGC.

 

5 Tips for an Adoption-Related Search

A few months ago, I wrote about the DNA Quest program for adoption-related DNA searches going on at MyHeritage. They have closed the program to new enrollees at this time but may open again in the future as additional resources become available. Here's a guest post I wrote for their blog with my five top tips for an adoption-related search. You might be surprised that some of them are DNA-related and some are not!

Filtering a Promethease Report: One Genetic Counselor's Strategy

There's no right or wrong way to filter through the results of raw genomic data and no professional standards or guidelines about how to do. So I've come up with my own strategy for how to do it out of necessity. It's a common request I receive, and in my quest to help people get proper genetic counseling and the appropriate follow-up testing and/or recommendations, I'm happy to try to help.

There are many reasons you should not rely on a Promethease report or consider raw data to be accurate health information, which I've written about in prior blog posts (and posted a video on YouTube) in the past:

https://www.watersheddna.com/blog-and-news/8-key-points-about-a-raw-data-file

https://www.watersheddna.com/blog-and-news/raw-data-what-is-it

https://www.watersheddna.com/blog-and-news/thirdpartyversusclinicalreport

https://www.watersheddna.com/blog-and-news/thoughts-on-promethease

But don't just take my word for it! Also consider the warnings from the companies and tools themselves, like this fine print on one page of the 23andMe website:

"This data has undergone a general quality review; however, only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe's Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical, diagnostic or other use."  

I know many people will try to make use of their raw data anyway, so here is my guidance for the folks turning to Pomethease. **Again, I want to emphasize this is only one approach, and until there are standards I am not claiming this guidance as personalized medical advice for readers in any way.**

Brianne's Five Steps to Filtering a Promethease Report

  1. Scroll down to the bottom of the report page and set the visualization tool to the "colorblind" setting.

  2. Set “Magnitude” at a minimum of 3.0 and leave maximum at its standard setting (4+).

  3. Scroll down to the bottom to the ethnicity section (at the bottom right), and uncheck all the ethnicities that do not describe you.

  4. Toggle the “ClinVar” button on and off to see what stays and goes.

  5. Review what is remaining and decide for yourself if the finding(s) concerns you.

The first step is optional, but I recommend it because I've found that viewing the genetic markers listed on a Promethease report using the default color setting (red is listed as "bad" and green as "good") can be psychologically misleading and distressing to some people. This report isn't diagnosing you with medical issues, nor is it predicting your future. The genetic markers ("SNPs" or "snips") are simply risk-adjusters. And on top of that, raw data findings can be wrong. Before you believe what you see, find a genetic counselor and seek out a confirmation test from a clinical testing laboratory for anything remaining and concerning to you after you filter through the data. 

Is your raw data from an Ancestry.com test? If you used a raw data file from recent testing through AncestryDNA (the v2 version of their testing platform), be aware that Promethease/SNPedia is reporting many findings as probable miscalls (in other words, false positives). Also, many of the SNPs appear to be missing from the data for unclear reasons. 

These types of blips with raw data happen with other companies' data as well, not just Ancestry's. Make sure you click on each finding in your report before making any conclusions about what you see. Some of the information, such as whether a finding is thought to be a probable miscall, is only visible once you open up the summary about the genetic marker. 

What next?

If you have any markers still remaining after filtering -- and especially if any relate to conditions already in your personal or family medical history -- I recommend you consider scheduling follow-up with a genetic counselor who is familiar with raw data and third party tool reports. You might have to shop around to find one because there aren't too many of us (at least not yet).

Genome Medical is one service that will see patients with questions about specific SNPs and raw data findings associated with health conditions. Genome Medical offers counseling via phone or video and can discuss the potential impact of that marker on your health and order follow-up confirmation testing if appropriate. They do not currently work with patients to filter data or review the entire raw data file, so you will need to have already done the filtering process yourself. 

Some companies, like Color Genomics, offer affordable testing for some confirmation tests.

If you are someone who prefers an in-person type of interaction, you might search for a genetic counselor at a clinic near you. Start at findageneticcounselor.com and search based on location or the genetic counselor specialty (cancer, cardiovascular, reproductive, etc.). Some geographical areas and hospital systems may have a genetic counselor able to assist you and others may not.

Want help with the filtering process or guidance for what to do next after you're done? I'm happy to assist!

-Brianne

Update on May 5th, 2018: My schedule is back up! Search for available appointment spots and sign up for one here: www.watersheddna.com/schedule. Your state of residence may determine if I can work with you, and if I can't help you (due to a licensing restriction in your state), I'll refer you on to someone who can. I'm unable to serve those who reside outside of the Unites States at this time.

Conflict of interest declaration: I do not profit if any testing company receives business as a result of what I say or write. I am part of the network of genetic counselors at Genome Medical, thus I know and respect the policies they set surrounding DTC testing and raw data. I am not affiliated with Ancestry.com, Color Genomics, or any genetic testing company, and I do not get kick-backs if you test with any of them. Just so you know!

A new year, a new resources section on WatershedDNA.com!

It's a new year, and it's a new resources section for the Watershed DNA website!

Here's what part of the new section looks like.

Here's what part of the new section looks like.

I've refreshed my resources list, fixed links, added a search box, and reorganized my list of free resources to help you find your way to more information on the DNA topics of interest to you.

Sections at this time include general, ancestry, health, adoption, and donor conception. 

Check back again in the future, as I'll be updating sections and resources over time.

Also feel free to send suggestions my way if you've found a particularly helpful online resource that you think more people should know about. 

Link to the Resources section here!

- Brianne

Parkinson's Disease and Genetic Testing - What You Need to Know

23andMe now provides FDA-approved reports on Parkinson's disease risk, and I thought readers could benefit from a post specific to the condition. This guest post was written by my friend and former colleague, Lola Cook Shukla, who specializes in the genetics of Parkinson's disease. Lola is a genetic counselor who provides telephone genetic counseling to participants who are part of a large Parkinson’s disease research study, sponsored by the Michael J. Fox Foundation. The wing of the study focused on Parkinson’s genetic testing is located at Indiana University School of Medicine.

Thank you, Lola, for sharing your expertise with us! There's a lot of nuance to the risk of developing Parkinson's, and I appreciate the chance you've given us to understand it better.


Parkinson’s Disease and Genetic Testing: What You Need to Know

by Lola Cook Shukla, MS, LGC

The company 23andMe began again to offer genetic testing for specific health risks in 2017, including Parkinson’s disease. Parkinson’s disease is a common adult-onset movement disorder. Genetic testing may tell you that you have an increased risk for developing Parkinson’s disease; however, it cannot tell you for sure if you will or will not get the disorder. In other words, regardless of your genetic test results, you may or may not develop Parkinson’s disease in your lifetime.

Here are some quick facts about Parkinson’s disease:

  • It is a chronic and progressive movement disorder.
  • About 1-2% of all people will develop Parkinson’s disease in their lifetimes.
  • The average age of onset for the most common type is age 60.
  • Dopamine deficiency causes Parkinson’s features which include slow movement, rigidity of the muscles, tremor, and gait problems.
  • Other features may include changes in the ability to smell, cognitive and psychiatric symptoms, sleep disorders, pain, and fatigue.
Regardless of your genetic test results, you may or may not develop Parkinson’s disease.

What Causes Parkinson’s Disease?

Parkinson’s disease was previously thought to be caused mainly by environmental factors, but research now indicates that in most cases the disease develops from a complicated interplay of genetics and environment.

Factors observed to increase or decrease risk include:

  • Ethnicity
  • Family history of disease
  • Genetic risk factors
  • History of head trauma
  • Exposures to certain chemicals and infectious agents
  • Caffeine use
  • Exercise

23andMe’s test screens for changes (variants) in two genes, LRRK2 and GBA. However, there are additional variants in LRRK2 and GBA, and other genes, that 23andMe doesn’t test for that are likely involved in the development of Parkinson’s. It is difficult to check for these other changes either because they are infrequent or have unclear significance. In addition, it becomes more expensive to test for more rare and subtle changes.

Some environmental factors that have been implicated include severe head trauma, chemical exposures such as pesticides, and infectious agents. There are also possible protective factors. Caffeine use and moderate to vigorous exercise might be protective, so drinking your coffee while briskly walking may be healthy steps you can take to keep Parkinson’s at bay!

Caffeine use and moderate to vigorous exercise might be protective.

Ethnicity and family history influence a person’s chances. Having Ashkenazi (Eastern European) Jewish background increases the chance of carrying a change in LRRK2 and GBA - so does having more than one relative in the family with the disorder.

It is reassuring to know that the majority of individuals with a genetic risk variant will never develop the disorder since LRRK2 and GBA variants need other factors to cause their expression. Keep in mind that regardless of a genetic result there remains a baseline risk of developing Parkinson’s for everyone. Although a risk may be provided by a genetic test report, this is only an estimate and does not take into account personal factors that could impact risk. Researchers are very interested in knowing why some people with these risk variants develop Parkinson disease, and others do not.

Implications of Test Results for Other Family

When individuals decide to have genetic testing for Parkinson’s disease, they may inadvertently learn that other relatives have a risk as well. For example, carrying a variant associated with PD often means one or the other parent has it as well. It could also mean children, siblings, aunts, uncles, and cousins may have the variant, too.

Not everyone wants to know if they carry a genetic risk for which there is no clear and effective treatment to slow or prevent the disease at this point in time. This genetic risk could be information that other family members may or may not want to know, which is something to consider if you test yourself. Genetic disorders in general are often a family affair with a family member’s risk rippling out to others. This can be seen as helpful news or unwelcome news from one person to the next.

This genetic risk could be information that other family members may or may not want to know, which is something to consider if you test yourself.

More About the GBA Gene and Gaucher Disease

Another interesting aspect of testing for Parkinson’s disease is that variants in the GBA gene are not just associated with Parkinson’s but also a very different disorder – Gaucher disease. Gaucher disease is a metabolic disorder often manifesting in childhood, which can vary in severity.

Possessing one or two copies of a GBA variant is a risk factor for Parkinson’s whereas carrying two GBA variants (the one you get from your father and the one you get from your mother) causes Gaucher disease. Persons who carry one GBA variant do not have Gaucher disease, but have the potential to have a child with Gaucher disease if two variants are passed on. This means that finding out if one carries a GBA mutation may also have implications for pregnancy and family planning.

23andMe reports on more GBA variants in your Gaucher disease report than they include on your Parkinson’s disease risk report at this point in time. This means your report - and therefore your understanding of your risk for PD - may change over time. If you’d want to know if you have an increased Parkinson’s disease risk, make sure to pay attention to update emails 23andMe sends you.

Your [23andMe] report - and therefore your understanding of your risk for PD - may change over time.

Why Do Healthy People Choose to Test for Parkinson’s Disease Risk?

Healthy individuals may decide to have genetic testing for Parkinson’s disease for multiple reasons:

  • It is part of the consumer testing like 23andMe that they are already doing
  • For information purposes for themselves or their family
  • To reduce anxiety about risk
  • Out of curiosity
  • To help in research studies

It is important to think carefully about the potential implications of testing before doing it. It may be beneficial to speak to a genetic counselor, a trained professional who helps individuals better understand the benefits and limitations of a particular genetic test, before and/or after testing. 

What Can You Do?

PPMI.jpg

Individuals who are interested in being part of a Parkinson’s disease research study may consider joining the Parkinson’s Progression Markers Initiative (PPMI). This study, offered through the Michael J. Fox Foundation, aims to identify biomarkers (physical indicators) of PD by enrolling individuals with a genetic predisposition to the disease into an observational research study. Typical requirements for the study include: Jewish heritage and having Parkinson’s disease or a first-degree relative with the disorder, or knowledge of carrying a LRRK2 or GBA change. 

Other places to search for Parkinson’s research studies and clinical trials are www.clinicaltrials.gov or in the "Get Involved" tab on the Michael J. Fox Foundation’s website

FOXclinicaltrialsscreenshot.png

Support group on Facebook for those who have gotten family surprises

The TV commercials about family member reunification enabled by DNA testing show the bright and sunny side of surprise family discoveries. Most - but not all - people eventually find the silver lining in a DNA surprise. For some, it can be a long, confusing, or difficult journey to get there.

For the better part of a year, I have run a Facebook group for individuals who discover an unexpected close relative through DNA testing - and for those who discover that a genetic relationship that is supposed to exist between two people does not. 

FBsupportgroup

The group is "secret" on Facebook, meaning that members have to be individually approved to be added to the group, and only those who are a part of the group can see who else is in it. No one in your Facebook network will see if you belong. It is a safe place for sharing stories, resources, and camaraderie with others who have been in the same boat.

Know someone who could benefit from this support group, or perhaps from a private consultation about their test results? Send them to this post and encourage them to reach out to me through www.watersheddna.com/contact. To join the support group, private message (PM) me through Facebook.

-Brianne 

 

"We are more alike, my friends, than we are unalike"

My favorite Apple commercial of all time premiered during the Opening Ceremonies of the 2016 Rio Olympics. It portrays a montage of still images of humans, of various ages, skin colors, and cultures. The late writer and poet Maya Angelou offers a voice-over of select lines from her poem, Human Family (full version available here). Whether you are an Apple fan or not, the message is the point: Maya is and always will be a voice for humanity. At the end, she shares her final thoughts, so simply worded yet needed desperately in a world of 7 billion people, often hotly divided:

We are more alike, my friends, than we are unalike.
— Maya Angelou from "Human Family"

This poem and set of images calls to me, as I'm always seeking to find commonalities between people. It is what compelled me to work hard on a "matchmaking" registry of individuals with rare genetic variants while coordinating GenomeConnect at Geisinger Health Systems. It's what motivated my work to connect families in distress with support resources while working in a Maternal Fetal Medicine clinic in Indianapolis. It's what led to the creation of the graphic below, calling out similarities between those in my chosen profession (genetic counseling) and my chosen hobby-turned-secondary-profession (genetic genealogy).

GGGC2017

I updated the graphic recently, as the National Society of Genetic Counselors launched a new website making it easier for the public to learn what genetic counselors do and how we can help.

I hope you'll visit the rest of my website and then check out www.aboutgeneticcounselors.com.

Genetic genealogists are a small group, and genetic counselors even smaller.

But we all aim to be knowledgeable when it comes to understanding DNA and helpful to others who seek to incorporate a better understanding of DNA, and our place and our role on this lovely, precious planet. 

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