genetic counseling

(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!

Bringing you the latest Base Pair, Marc and Janet

Bringing you the latest Base Pair, Marc and Janet

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.

Learning from Teaching Together: The Next Base Pair is Beth and Rachel

Meet Beth and Rachel! They make a perfect Base Pair as they've paired up multiple times to co-teach classes about genetics to students of OLLI at Duke University. OLLI institutes were founded with the goal of allowing every person, no matter age or life stage, to continue learning in the university setting.

Instruction about DNA was not likely part of the grade school or high school curriculum for many current OLLI students, so how exciting and important they be given the opportunity today! It's never too late in life to learn something new, and everyone should have a chance to learn about DNA, the fascinating molecule that it is. 

A special shout-out goes to Nancy Callanan, Rachel's genetic counseling program director at UNC Greensboro, for being the person who connected Rachel and Beth. 

Hooray for genetics educators...and for the match-makers who help pair talented individuals into dynamic duos!    

Beth and Rachel stand in front of Bishops House in Durham, North Carolina. This is one location on the Duke University campus where OLLI courses are held.

How did you get interested in genetic counseling?

Beth: I was working in Dorothy Warburton's cytogenetics lab at Columbia University when a student arrived for her rotation [educational internship]. She explained that she was in the Genetic Counseling Graduate Program at Sarah Lawrence College in Bronxville, New York. Although I loved lab work, I always wondered what people did with the information they got from their results. I applied to Sarah Lawrence the following year, 1975, after talking with her. 

Rachel: I first learned of genetic counseling when I was a junior in high school – my genetics class visited the Greenwood Genetic Center in Greenwood, South Carolina where I heard about different career options in the field of genetics. Genetic counseling clicked for me—I loved genetics, but wasn’t sure if lab work or med school was for me, so genetic counseling was the perfect fit.

Did you learn about genetic counseling from someone in you knew, or did you influence someone else to attend school for genetic counseling? 

Beth: Over the years, I have spoken to numerous people and am proud to say several have become genetic counselors--and leaders in the field too. I still take the opportunity to speak about a career in Genetic Counseling when students contact me via the NSGC website. 

Rachel: Over the years, I’ve met with many high school and college students to discuss genetic counseling as a career option. A number of them have gone on to be GCs, including a college boyfriend’s younger sister!

What's your special connection to your Base Pair buddy? 

Beth: Rachel and I co-teach a course. (See her terrific answer).  Her research skills and current genetics knowledge mix well with my clinical expertise and perspective. Her technical/computer skills are outstanding and in my "advanced age" I have learned a lot from her. She even taught me how to participate in a Twitter chat! 

Rachel: We both live and work in Durham, North Carolina and co-teach a continuing education course through Duke’s Osher Lifelong Learning Institute (OLLI) entitled “Healthcare Personalized for You: Understanding Genomics and Precision Medicine.” Our knowledge and experience complement each other, offering a great opportunity for OLLI students to better understand genetics, genomics, and genomic testing. 

What else would be of interest to readers? 

Beth: Working with a GC from another generation has renewed my enthusiasm for our field and the NSGC. Genetic Counseling was great when I started in the '70's and will continue to be great in the future. The field has grown tremendously and, I think, will continue to grow as an integral service in our healthcare system, especially with GCs like Rachel leading the way. 

Rachel: Our age difference make us an interesting and unexpected pair, but it has been so fun working together. We’ve both learned a lot from each other. Beth’s life and work experiences have given me a great perspective on how the field has changed over the years, and I’ve taught Beth about Twitter!


More about Beth: Elizabeth (Beth) Balkite has been a certified genetic counselor for over 30 years. She is an alumna of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She worked as a genetic counselor in Connecticut at the University of Connecticut Health Center, Yale University, and Norwalk Hospital prior to joining Genzyme Genetics as manager of Clinical Genetics Services in 1993. From 1998-2006 she worked as the Genetics Education Strategy Advisor for GlaxoSmithKline. She continued as a genetics educator in several capacities before retiring in 2012.  She has studied her own family history for three years and is now one of the few genetic counselors to practice and teach genetic genealogy. She is an instructor at the Osher Life Long Learning Institute (OLLI) at Duke University in Durham, NC, where she co-teaches two courses: “Applying DNA to Your Family Tree,” and “Personalized Medicine”.

More about Rachel: Rachel Mills is a research genetic counselor at Duke in the Center for Applied Genomics and Precision Medicine. Her research work focuses on implementation of precision medicine, particularly pharmacogenetics. Rachel is also a consultant with PWNHealth, and provides tele-genetic counseling services. Rachel is passionate about genetics education and will be returning to school this year to pursue a PhD in adult continuing professional education. She is an active volunteer with the National Society of Genetic Counselors and the NC Medical Genetics Association, and regularly serves as a thesis committee member for genetic counseling graduate students.  

Like reading the Base Pair series? Read about my past couples including:

 a husband/wife couple of genetic counselors who met in graduate school  

sisters-in-law who earned their degrees at different times

friends who once had a genetic counselor/patient relationship 

a mentor/mentee couple who now run a business together

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!  

5 Things to Pay Attention to in your Family History

Some families and its members are more comfortable with sharing medical history information. In other families, it is harder to learn this information. Small family size, less communication about difficult subjects like health and illness, and lack of continued communication over time between relatives can make these challenging. When you have the chance to gather health information from family, what should you focus on?

When you have the chance to gather health information from family, what should you focus on?
  1. Common conditions - Most conditions that people develop are complex, meaning they are caused by a combination of multiple genes, exposures in the environment, lifestyle choices, and aging. We can tease out the genetic factors for some of them and not for others. Look for patterns in your family: Does high cholesterol run in your family? Heart attacks? Have similar cancers popped up in multiple generations or in a group of siblings, for example?

  2. Rare diseases - When we look at three or four generations of a family, most families will have at least one member who has a rare disease or has experienced a lengthy, complex medical history. We are finding new genetic causes for these situations every year. However, not everything genetic is also hereditary or a concern for other family members. The information you gather about a rare disease in the family (its name and how the diagnosis was made, for example) can help to later determine if anyone else might be at risk.

  3. Age of onset - The age at onset or diagnosis of a medical condition is often the most value-added piece of information. Your Aunt Sal may have developed breast cancer, but was she age 28 or age 68 when it happened? This can make a big difference to risks for others in the family. Take note of how old a family member was when they experienced a medical crisis or health issue, especially for neurologic, heart, and cancer-related issues.

  4. Ethnicity - Some markers in your DNA can indicate ethnicity, some are associated solely with health risks, and some represent both at the same time. Belonging to a certain ethnic population can place you at higher risk of some conditions, especially if you’ve descended from a small, isolated ethnic group. Examples of this are Old World Amish, Ashkenazi Jewish, and French Canadian populations. Ethnic background alone isn’t a reason to meet with a genetic counselor, but expect it to come up during a discussion of family history.

  5. Young death – “Young death” includes cases of sudden infant death, unexplained accidental deaths in children/young adults, and sudden cardiac events, like a heart attack in a young person. These issues can be seen to run in families, and now, we have some tests available to search for possible genetic causes. If you see this pattern in your family, schedule to meet with a genetic counselor to review your family history, talk about genetic testing options, and identify who is the best person in the family to test first.

Genetic counselors help sort out what conditions might have a stronger genetic component to them and determine if any testing is relevant and available.

Genetic counselors help sort out what conditions might have a stronger genetic component to them and determine if any testing is relevant and available. They also identify what rare diagnoses are of greater or lesser concern to others within a family. To partner with a genetic counselor to make your family medical history useful, reach out through my website, www.watersheddna.com. You can also visit www.aboutgeneticcounselors.com and use the “find a genetic counselor” search tool to search for a genetic counselor by area of specialty, hospital system/organization, and more.

This article originally appeared in the May 2018 issue of Trail Living Magazine.

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!

From the National Society of Genetic Counselors: Answers to Six Important Questions about Genetic Counseling

“Many people are confused about what a genetic counselor does, and many who might benefit from seeing a genetic counselor may not know we exist,” said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC).