genetic counselor

The DNA Guide for Adoptees - #1 New Release in Genetics on Amazon

The DNA Guide for Adoptees - #1 New Release in Genetics on Amazon

Exciting news today as The DNA Guide for Adoptees has released in #1 new release for genetics. I’m looking forward to the information and support falling into people’s hands whether their preference is paperback or Kindle.

The book covers a lot of ground and is divided into four sections:

  • Getting Started

  • Bringing Science and Research Together through Genetic Genealogy

  • What to Do After the DNA Testing is Done

  • DNA Tests and the Search for Health Information

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!

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.

(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!).

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!  

From mentor/mentee to business co-founders: Ellen and Danielle share their story of connection in my next Base Pairs post

In the world of DNA, a base pair is a set of genetic letters that join together from opposing strands of the double helix. The two letters go together like peas and carrots. T matches up with A, and G matches up with C, composing a rung of the DNA ladder. Without base pairs, we'd have no double helix and we'd have no DNA molecule.

In the world of people, it's much the same. We rely on strong and lasting relationships to weather the storms and appreciate the calm moments of life. People find a fit and link themselves together, whether it's because they are family, they've forged an intentional friendship, or they share a common experience that bonds them for life. 

My next Base Pair is a set of genetic counselors whose relationship started unsuspectingly...just one curious student shadowing a professional working in her area of academic interest. Over time, the relationship evolved into one of mentor/mentee, then to that of co-workers, and eventually, business co-founders.

One of the takeaways from the responses I received from Ellen Matloff and Danielle Bonadies is the message of the value of creating opportunities for other people, and of fostering and encouraging their innate abilities.

Some of the best gifts we can give another person with dreams and goals are opportunities and our belief in their potential. 

I am happy to share the story of Ellen and Danielle as the next post in my Base Pair series.    

-Brianne


HOW DID YOU GET INTERESTED IN GENETIC COUNSELING?

Ellen: I took a Genetics course as a sophomore in college and a genetic counselor came in to speak to the class.  That led me to observe with a few genetic counselors, and then to do a formal internship.  Sold!

Danielle: I first got interested in genetics after my high school biology teacher showed us a video about gene therapy for cystic fibrosis.  It was the first time that learning became exciting for me.  A spark was lit and I knew that I’d follow a path in the sciences.  

DID YOU LEARN ABOUT GENETIC COUNSELING FROM SOMEONE YOU KNEW? DID YOU INFLUENCE SOMEONE ELSE TO ATTEND SCHOOL FOR GENETIC COUNSELING?

Ellen: I did not learn about the field from someone I knew, but I have been told that I’ve influenced several students who, like me, were looking for a career path and heard me lecture to their classes about genetic counseling.

Danielle: During college, I worked in a lab studying cystic fibrosis where another member of the lab was a genetic counselor.  She spent some of her time in the lab and some of her time meeting with patients.  I shadowed her and found that working with patients was a critical missing link.  

WHAT IS YOUR SPECIAL CONNECTION TO YOUR BASE PAIR BUDDY? HOW DID YOU MEET?

Ellen: I first met Danielle when she contacted me to learn more about the field of genetic counseling!  (There is a theme building here …)  She spent a day with me at my job at Yale, and then came back as our Fellowship student while she was a graduate student at Sarah Lawrence.  We then hired her as a genetic counselor as soon as she graduated!

Danielle: As I started exploring the field of genetic counseling further I reached out to several genetic counselors to shadow them. Ellen got back to me right away and I spent a few days over my winter break shadowing her. I never would have guessed that a few days of shadowing would turn into my first job, years of mentorship and multiple joint career paths.   

WHAT’S THE UNIQUE ASPECT TO YOUR RELATIONSHIP BEYOND BEING COWORKERS?

Ellen: I’ve now known Danielle for more than a decade, across different jobs, and across many different transitions in our own personal and professional lives.  We’ve climbed many mountains together, and I’m always grateful to have her on my team — never more so than when she helped me form My Gene Counsel. She is one of mGC’s greatest assets. 

Danielle: Ellen began as role model when I entered the genetic counseling field and has added such incredible depth to my career.  She’s been my boss, a colleague, a co-author, a friend and now the CEO of My Gene Counsel.  She has always been my biggest advocate and my career path has blossomed because of it. Her unrelenting support and has made all the difference in my life, both professionally and personally.  


Danielle Bonadies is the Director of the Cancer Genetics Division of My Gene Counsel, a digital health company that links current, updating, evidence-based information to genetic test results.  Danielle was previously the Assistant Director of the Cancer Genetic Counseling Program at Yale where she designed and ran several interactive, on-line patient education and communication sites, and is a well-known speaker in Genetics.  Danielle has co-authored multiple book chapters and articles in genetic counseling and testing and was involved in the publication of several key articles about the high rate of result misinterpretation amongst clinicians ordering genetic testing.

Danielle Bonadies

Danielle Bonadies

Ellen Matloff is President and CEO of My Gene Counsel, LLC, a digital health company offering accurate, dynamic solutions digital genetic counseling solutions to consumers and clinicians. Ellen is a certified genetic counselor who has served in a number of leadership positions in the profession, including being Founder and Director of the Cancer Genetic Counseling program at Yale Cancer Center.

Ellen Matloff

Ellen Matloff

When your friend becomes your own Genetic Counselor: the Base Pair series continues with Lola and Stephanie

With the Base Pair series on my blog, I aim to put faces to the professional title of "Genetic Counselor" and share the stories of my fellow genetic counselors, especially for those who perhaps have never met or spoken with one of us. There are thousands of masters-trained genetic counselors in the United States and worldwide, and our stories and the work we do are as diverse as the DNA we carry. The newest Base Pair, Stephanie Cohen and Lola Cook Shukla, have been friends and coworkers for years and once stepped into the roles of patient and care provider. I asked the two to share their story, and what makes their relationship unique.

How did you get interested in genetic counseling?

Stephanie:  I was working in a genetics laboratory doing basic research during a college summer, and I HATED it…..I was a little freaked out about what I would do with my biology degree because I knew I didn’t want to go to medical school and wasn’t cut out for bench-side research.  I passed by a poster every day  in the hallway of the biology department at CWRU – “What can you do with a biology degree?”, so I ordered a copy for my dorm room.  I stared at it every night, and the two careers that stuck out to me were “mushroom farm worker” (really??) and “genetic counselor” (interesting!). I was intrigued because I had always like genetics, and I like the idea of working with people.  I contacted our guidance office, they helped me track down a genetic counselor at University Hospitals.  After speaking with her for 15 minutes, I knew that was what I wanted to do!

Lola: In my high school biology class. I had a very progressive teacher who was already aware in 1982 of the potential role of genetic counselors. Over a model of a human skeleton, where I was reciting bones, he told me I really needed to do more with myself!

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

Stephanie:  I hope I have influenced someone!  I have had a lot of students job-shadow me over the years, and I know several eventually went on to become genetic counselors (I can name at least 5). Claire Harwood, a current rock-star co-worker, shadowed me a few times while she was in college, and then volunteered as an intern in our office for a year before being accepted to graduate school. I can’t say that I influenced her to become a genetic counselor because I’m pretty sure that’s what she wanted to do when she first met me, but at least I didn’t drive her away, and she ultimately came back to work with us!!

 Lola: I am constantly urging others to consider the field of genetic counseling or other genetic careers. It is a hot profession and has much potential to do good for others!

What is your special connection to your Base Pair buddy? How did you meet?

Stephanie: When I moved to Indianapolis, Lola was one of the few other genetic counselors in town.  We met at the inaugural meeting of what ultimately became the Indiana Network of Genetic Counselors. A friendship developed over the years, beyond a collegial relationship, that includes regular get-togethers with a few other well-seasoned genetic counselors. Lola covered a maternity leave for me, adding a cancer genetics hat to her experience and taking good care of patients for me during my absence.

Professionally, we’ve worked on many projects together, including the passage of licensure in the state of Indiana and developing resources for the Indiana Network of Genetic Counselors. We’ve been a sounding board for one another over the years throughout career and personal life changes. I admire Lola’s fearless ability to take on new areas of expertise, learning what she needs to know completely and with great dedication. She is a true advocate for patients and our profession.

Lola: I know Stephanie as a good friend and top-notch cancer genetic counselor. I think we met through our overlapping jobs at a local hospital, but I really do not remember well! We go out socially for dinner with three other genetic counselor friends in the area who have bonded over the years. At our genetic counselor dinners, we laugh, talk work and family. Workwise, I know Stephanie from taking a prenatal job in the same maternal-fetal medicine department where she counseled prenatal and cancer patients. Thus, we have a work connection as well. I covered several weeks for her during a maternity leave counseling patients in the familial cancer risk center where she now works. I gained a huge and new respect for what she does as I witnessed the emotions of patients and families who had gone through so much as they dealt with familial cancer and risks to their relatives.

What’s the unique aspect to your relationship beyond being coworkers and friends?

Stephanie: I have had the privilege of providing genetic counseling to Lola for her family history of cancer. She was sweet to consider if I would feel uncomfortable in this role, considering the potential that I may have to give her difficult news. It is courageous to open your private life and past history to any medical professional, and can be even more difficult with a friend and colleague. I was honored and humbled that Lola would feel comfortable doing this with me. We had a frank conversation prior to her appointment about this, reassuring each other that we each felt comfortable in this different relationship.  

Lola: I began thinking more about my risk for cancer after my father developed his 4th primary cancer and my mother was diagnosed with breast cancer. I began asking Stephanie questions informally about my family history of cancer and what she thought.  As the years passed, more knowledge and genetic testing became available and I then made an appointment with her in the familial cancer risk center to formally talk about my cancer risk and testing options. Eventually, I decided to proceed with testing. I was worried about Stephanie potentially having to give me “bad news” from my test results. I did not want her to feel bad as a friend. She was great talking this out with me during our counseling session. It truly was a gift to have such a wise, open, and good friend to handle sensitive information and feel comfortable with it!

We both are lifelong learners and get very excited talking to each other about the changes in genetics and our field. We also enjoy sharing Indian and other exotic foods!

Stephanie and Lola enjoy a quiet dinner out, with kids and spouses back at home!

Stephanie and Lola enjoy a quiet dinner out, with kids and spouses back at home!

More about Lola and Stephanie:

Lola Cook Shukla is a genetic counselor with a broad background who has worked in pediatric, prenatal, and adult genetics. She also has worked in industry as a medical research analyst. Currently, she specializes in the genetics of Parkinson's disease, providing remote genetic counseling to participants who are part of a large Parkinson’s disease research study, sponsored by the Michael J. Fox Foundation. Lola is interested in new and innovative ways to provide genetic counseling services and serves on a working group developing practice  guidelines for telegenetics for the National Society of Genetic Counselors (NSGC) and also will be serving as co-chair of NSGC’s Health Information Technology  Special Interest Group (SIG) this upcoming year.

Stephanie Cohen is a genetic counselor who provides in-person and remote genetic counseling via telemedicine for hereditary cancer risk at St. Vincent Health in Indianapolis. Stephanie is interested in improving access to cancer genetic services, and serves as the chair of the National Society of Genetic Counselor’s Service Delivery Model subcommittee. She is active in training genetic counseling students as an Adjunct Assistant Professor at Indiana University as a clinical supervisor and co-instructor for a Cancer Genetics course. She has multiple publications in the field of cancer genetics and genetic counseling service delivery.

 

Like reading the Base Pair series? Read about my first two couples - a husband/wife couple of genetic counselors who met in graduate school and sisters-in-law who earned their degrees at different times.

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!  

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).

Resource for Learning about Medical Genetic Testing

If you are a blogger, writer, or speaker who covers the topic of genetic testing, and the topic of medical genetic testing or consumer-based testing with medical implications ever comes up, please stop and read this!

Over the past year, I've been working with a group of genetic counselors on behalf of the National Society of Genetic Counselors to gather, summarize, and explain the various aspects of genetic testing that commonly lead to confusion and concern.

We developed a summary document called the "Genetic Testing Resource" listed in the section of the website aboutgeneticcounselors.com. See the screenshot below for where to find it.

Find the document at http://aboutgeneticcounselors.com/Genetic-Testing, where the orange arrow points. 

Find the document at http://aboutgeneticcounselors.com/Genetic-Testing, where the orange arrow points. 

The aim of the document is to address in everyday language the common questions (and myths) about genetic testing for medical purposes. Some of the many topics addressed in the 16-page document include:

·      Types of DNA that can be tested

·      Different DNA technologies and their usefulness

·      What exactly is “informed consent” for genetic testing?

·      Where do genetic counselors fit in the picture?

If you write about DNA online or in books or speak to audiences, please be extra cautious about the advice you give to others regarding medical information from consumer DNA tests (and especially the raw data to come from them). You are welcome to use quotes from this document as long as you cite it as your source.

Reports produced from raw data files from the consumer testing market and clinical genetic tests are not the same, and it’s critical that if you choose to comment on health topics, you understand how, and why. The “Genetic Testing Resource” will give you a good start.

I’m a consumer of at-home DNA testing many times over. I understand the appeal, and I understand the desire to gather medical information from any test where it’s possible.

I’m also rooted at the intersection medical genetics and consumer testing and see the benefits and limitations from an insider perspective. I don’t discourage people from pursuing information that is important to them, but I encourage everyone to learn as much as possible about the differences between types of testing and the results to come from them.

There is a lot of information that can mislead and confuse. I want you to get accurate and useful medical information, whether you chose a test from the consumer market or opt for a clinical-grade test.

Want to learn more? I've written more about "raw data" topics herehere, and here. Check out those posts if you want to learn more! 

 

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

Moving down the strand to the next "Base Pair" with Amy and KT

Providing support, answers, and resources to consumers of DIY genetic testing was my main mission in founding Watershed DNA. A secondary goal was to help more people understand genetic counselors - who we are, what we do, and how our expertise can be valuable even in situations of genetic testing ordered from home.

I recently began a series of blog posts to help introduce genetic counselors to those who might not be too familiar. I'm calling the series "Base Pairs" (inspired by fellow genetic counselor and writer Deepti Babu who was highlighted in my first series post!).

This post features genetic counselors KT Curry and Amy Curry Sturm. The questions start off with a common one genetic counselors receive! 

Here are KT and Amy spending time together during the National Society of Genetic Counselor's annual conference in Seattle, WA (2016). Continuing education is an important professional task of genetic counselors. Although DNA doesn't change, our understanding of it does! Knowing the latest in research and clinical approaches to genetics is vital to genetic counselors.

Here are KT and Amy spending time together during the National Society of Genetic Counselor's annual conference in Seattle, WA (2016). Continuing education is an important professional task of genetic counselors. Although DNA doesn't change, our understanding of it does! Knowing the latest in research and clinical approaches to genetics is vital to genetic counselors.

How did you find out about the profession of genetic counseling? 

Amy: I first learned of genetic counseling during a development psychology course in undergrad.  We had to research a topic, there was one paragraph on genetic counseling, and I was intrigued!  After writing my paper, my professor, whom I adored, confided in me that he and his wife lost a baby with trisomy 18.  He told me how they had genetic counseling, and how important it was to their recovery process.  This left a huge impact on me - I was hooked!  I later shadowed Heather Hampel, a rock star genetic counselor at Ohio State.  That's when I really knew this career was for me, and the rest is history.

KT: While earning my degree in Psychology I signed up for an elective genetics course, on the notion that it wouldn’t be boring :) I found it endlessly interesting but had no idea at that time that I would or could turn this interest into a profession. Luckily I worked my way through college, as a professional dancer with the Rockettes, with plenty of time to decide what type of career I wanted to end up in after my first retirement.

Did you learn about genetic counseling from someone in your family? Did one of you influence the other?

Amy: I absolutely did NOT learn about genetic counseling from anyone in my family.  I'm from a very small rural Ohio town. My mom was a stay at home mom turned teacher, and my dad was a small business owner and recreational farmer.  No one in my family had ever heard of genetic counseling, or met a genetic counselor.

I love sharing that I am so passionate about genetic counseling and love my career so much that I was able to "convince" a New York Radio City Music Hall Rockette dancer to become a genetic counselor!  My fabulous sister-in-law, KT Curry.  KT is married to my little brother, Gus.  They met while doing theatre together in New Hampshire.  While dancing as a Rockette in Manhattan, she was also working on her undergrad degree, and became interested in genetic counseling!  I was thrilled!  I still recall sitting with her in their upper west side apartment reviewing graduate schools and applications.  I connected KT with colleagues of mine to shadow.  She just graduated from the University of Minnesota's program and I am so proud to not only get to call this amazing lady my sister-in-law, but also my genetic counseling colleague!  Being able to spend time together in Phoenix at the ACMG meeting was the best.  We've always been close and had a special connection, but now we're official base pairs!

KT: I met my husband, whose sister was a genetic counselor, and over the first few years I learned more and more about the genetic counseling profession. Amy encouraged me to seek out opportunities to get involved with different communities related to genetics. I started volunteering at Gigi’s Playhouse in Harlem, New York learning how to teach adaptive ballet and creative movement to kids with Down syndrome and their siblings. This experience inspired me to apply for a graduate program in genetic counseling! I was very lucky to have Amy as a resource during this period to guide me through shadowing other GCs and helping me connect with people completely outside of my current field.

How does having a common profession influence topics of conversation and discussions during family gatherings?
Amy: No joke - we were drawing pedigrees [family trees] on the chalkboard in my basement bar over the holidays this past December!  I also had a chance to share Thai food and genetics conversation with KT and her parents while in Phoenix for the American College of Medical Genetics and Genomics meeting this past spring.  We talked about everything from scaling genetic counseling to funny childhood stories, so it's a great mix!

KT: I love having a family member in the same field! Amy and I have been able to meet up at professional conferences together within the past year which was a blast.  During holidays we definitely drew out a pedigree on a board in her house to discuss a complex case. We received some eye rolls from the family :) For me, It’s also been nice to have someone to bounce ideas off of and act as a mentor. As a new practicing genetic counselor, it’s fun for me to see where I could be in 10 to 15 years!

When I asked Amy and KT what people comment about having two genetic counselors in one family, Amy's answer summed it up nicely: Most people I've told think it's pretty darn cool.  

Amy and KT enjoy some cocktails together at a holiday gathering. Genetic counselors can have pressure-filled jobs with a lot riding on accurate understanding and interpretation of genetic risk factors and the process of genetic testing. The importance of practicing self-care (like being able to let loose and relax sometimes!) is often stressed in training and throughout a rigorous clinical rotation schedule.   

Amy and KT enjoy some cocktails together at a holiday gathering. Genetic counselors can have pressure-filled jobs with a lot riding on accurate understanding and interpretation of genetic risk factors and the process of genetic testing. The importance of practicing self-care (like being able to let loose and relax sometimes!) is often stressed in training and throughout a rigorous clinical rotation schedule.   

Additional info about Amy and KT:

Amy Curry Sturm, MS, LGC, is a Professor and the Director of Cardiovascular Genomic Counseling at the Geisinger Genomic Medicine Institute.  She is the 2018 President-Elect of the National Society of Genetic Counselors.  Her interests include novel approaches to scale genetic counseling, the development of genetic counseling interventions to facilitate family communication, and methods to promote patient and provider activation in the setting of genomic medicine delivery, especially in the area of preventable types of genetic heart disease.  She lives in Columbus, Ohio with her husband Jeff and two kids, Jack and Stella.  If she wasn't a genetic counselor, she'd love to be an interior designer.

Kathryn (KT) Curry, MS is a genetic counselor in the pediatric genetics clinic at St. Luke’s Children’s Hospital. She is excited to be entering the field of genetic counseling and to see where it leads her. She has a special interest in ethics and children and adults with neurodevelopmental disabilities. She lives in Boise, ID with her husband and is a recent graduate of the University of Minnesota.