genetic counselor

Blue Ridge Retreat for Genetic Counselors 2020 - registration now open!

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So many of us are stretched thin each day.

Whether we are content with our careers or are wishing for something to change, there are Things That Have To Be Done that distract us from making changes that would benefit us and everyone around us. Jobs to show up for, dinners to cook, and relationships to maintain – whether close or distant. Finding the time to shut off our computers and put our phones down - and to think about the future we want to create - can be impossibly difficult with all we juggle.

When I left a secure job at a reliable institution to start a solo specialty practice, I was not sure what the future would hold. It was an idea I had contemplated for two years before I made the leap. The planning and learning it took to be able to set off down an unusual path was spread out over months and years. It had to be done during the tiny bits of freedom I could grab between working a job and caring for a home and a growing family.

I continued showing up for my daily work, trying to bring my best to the team I worked with but continuing to feel like something was off. I had worked so hard to become a Certified Genetic Counselor, yet here I was battling discontent and negativity. I knew I could do good work, fulfilling work even, yet my best qualities and skills had been lost somewhere. The Sunday night dread was terrible. 

I remember thinking, I NEED MORE SPACE TO FIGURE ALL OF THIS OUT. More information would not help me take the next step. I needed to get my head in the right place, find the resolve to make the leap, and do it.

What I needed was dedicated time to work through the internal dialogue and get clear on my needs and goals; I needed to turn off autopilot mode. I now know after having other GCs reach out to me that the struggle I was going through silently was the same struggle others are going through right now.

So I reached out to Orchid Story founder Rachel Nusbaum and asked her to create with me an opportunity that I wish had been available back then. 

The Blue Ridge Retreat for Genetic Counselors will be a chance for you to come together with a small group of other genetic counselors, to work individually, together. To escape from your everyday. To reconnect with your purpose.

Perhaps you feel like there is something you are meant to be doing with your days but have not found your way there yet. Maybe you have a destination in mind, but haven’t had a chance to sketch out the steps you need to take to get there. Perhaps you have considered going back to school for another degree, or are hanging on to a job you don’t love, to push through a few years until you can retire and escape it all.

Rachel is a genetic counselor who also has set off on an unusual path, pursuing a passion to help others find meaning in their life stories by reflecting and writing about them. She and I have created a retreat experience that will allow you to capture time for yourself in a beautiful green space to explore the questions you find yourself asking yourself. 

We have designed the retreat specifically for genetic counselors, with a balance of activities that will challenge you to identify your unique skills and interests while still having space and time to rest and breathe. Although Rachel and I are co-leaders, we’ve been through growth journeys of our own and will be involved throughout the retreat, challenging you and providing encouragement as you move through the activities and experiences we have created for you.

Look ahead to May 2020 and mark your calendars for a weekend that can set you on the path to a future you create.

Here’s the link to request more detailed information: Request More Information

and here’s the link to hold your spot: Reserve My Spot

We wanted this retreat to be small enough for group discussion time, so we have only ten spots available. Is one of those spots for you? Don’t wait! Start creating your future with a time out from everyday life in the Blue Ridge Mountains. 

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We are looking forward to having you join us!

-Brianne Kirkpatrick and Rachel Nusbaum



Elle and Ashley - the Base Pair that podcasts together

Elle and Ashley - the Base Pair that podcasts together

The next Base Pair comes from all the way from around the world (and down-under!). Elle and Ashley are a pair of Australian genetic counselors (counsellors) who teamed up to create a podcast. I’ve enjoyed listening to their episodes, and I can’t stop thinking about the ethical issues discussed in one early episode about the uncovering of spousal abuse and a non-paternity situation after the DNA testing of a minor child in genetics clinic. The work that genetic counselors do is so challenging sometimes. I wanted to learn more about the origins of the GC Chat podcast and invited Elle and Ashley to be the next Base Pair. Hope you enjoy reading about it! -Brianne

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!