theshortread5

Welcome to The Short Read, our weekly peek behind the curtain at the people who make this amazing community tick. Make sure to check back every Tuesday for the latest installment.

This month the medical genetics community will converge on Phoenix, AZ for the annual meeting of the American College of Medical Genetics and Genomics, and to celebrate this amazing gathering over the coming weeks The Short Read will be all about this fabulous frontier for genomics.

This week we speak to Judith Benkendorf, a member of the professional staff of ACMG since 2005, currently serving as Special Assistant to the Executive Director. A board-certified genetic counselor for 35 years, Judith has played numerous roles in advancing medical genetics and genetic counseling. Her internationally-recognized work, innovative perspective, and leadership activities have taken her from the academic medical center (with appointments in genetics, bioethics and medical education) to underserved communities and the public policy arena. She attributes her ongoing quest to improve ways to meet patient needs and maintain standards of care in the medical genetics setting to her background in medical communication, passionate advocacy for keeping the “counseling” in genetic counseling and fervent belief in access to genetic services. Judith’s approach to the complex nature of genetic counseling is the establishment of the “counselome” — noting that “omes” encompass the totality of a large and inherently dynamic field with expectations of a growing knowledge base. With the rise of new genomic technologies and their applications to healthcare, it will be via a national research agenda and the tools derived from a 21st century “counselome” that we can ensure that the best ways to enact the principles of the field will be discovered, and that people are prepared to receive genomic health information.

Judith Benkendorf

Judith Benkendorf, MS, CGC, Special Assistant to the Executive Director, ACMG

What are you working on right now?

I work on special projects related to the delivery of genetic and genomic healthcare for the only nationally recognized medical organization dedicated to improving health through the practice of medical genetics and genomics. My largest efforts are concentrated around moving our public policy agenda—from developing an expanded, increasingly diverse, appropriately trained and strategically positioned workforce to promoting the genetic literacy of the public, regulatory oversight of genetic tests, and the seamless, equitable, integration of genetics and genomics into healthcare for all. 

What’s the biggest challenge you face in your work at the moment?

Conveying the message that genetic and genomic information is scientifically nuanced and complex as well as deeply personal and value-laden, with value placed on it by the consumer of genetic and genomic healthcare services—whether those consumers are individuals, families, communities or society, as we see with public health.

Name one big development that you would like to see in your field the next 18 months.

We need a robust corpus of outcomes data demonstrating the value of genetic and genomic healthcare services. Without these data, championing the need to payers and policymakers for improved reimbursement for the practice of medical genetics is crippled.

What are you most proud of in your career?

Leading the working group that developed the original Code of Ethics of the National Society of Genetic Counselors. In 1990, this was the first professional code of ethics to be grounded in the ethic of care. By the end of that decade — just before embarking on a mid-career AAAS Science Policy Fellowship — our research team at Georgetown University conducted a sociolinguistic investigation of the discourse of genetic counseling— “talk” being our most valuable tool—to examine whether genetic counseling principles were being facilitated or hindered in our patient conversations. It was a surprise to discover instances of profound patient confusion when indirect speech was used as a proxy for the delivery of non-directive genetic counseling. 

Which scientists, living, dead, or fictional, would you invite to dinner, and why?

Ours will be a small gathering allowing two visionaries, Drs. Sheldon Reed and Melissa Richter, to bask in the glow of the initiatives they so heavily influenced. In the waning days of the US eugenics movement, Dr. Reed coined the term “genetic counseling”, noting that this activity is “for the whole family, without direct concern for its effect upon state, or politics.” Dr. Reed, seventy years later, genetic counseling and services have not wavered from placing the highest premium on patient autonomy in decision making. Two decades later, Sarah Lawrence College faculty member Melissa Richter recognized the need for a healthcare team member trained in the art of counseling and the science of medical genetics—able to translate complex and nuanced scientific concepts to all types of people and facilitate value-laden decision making and adaptation to the presence of genetic risk and/or disease. In 1969, she began the nation’s first genetic counseling graduate program but died soon thereafter, never having the opportunity to witness genetic counselors as licensed medical professionals working in a breadth of settings, far surpassing her dream. Drs. Reed and Richter deserve the gratitude of experiencing a glimpse of contemporary genetic counseling and medical genetic and genomic services equally as much as the pleasure I would derive from facilitating our dinner party!

What advice do you wish someone had given you at the start of your career?

When identifying gaps in your own skill set do not be afraid to look for trans-disciplinary mentors whose theoretical base and clinical and research tools complement your own. Likewise, develop interdisciplinary collaborations in research, teaching and clinical care to meet unfilled needs and bring your genetics/genomics perspective. The richness of these relationships will fulfill you for a lifetime. 

 


Why not check out The Short Read archives?

George Church – “Follow your dreams, not the drove”

Amalio Telenti – Defying the “exome-centric” view

Anna Middleton – “It’s ok to be a bit creative and entrepreneurial”

Nan Doyle – “Get clear on what matters to you”  

David Smith – The “real keys to scientific success”

Hannes Smárason – The importance of Grit

Eric Topol – “Always question; never accept dogma”

Kristen Sund – “You don’t change culture overnight, it happens in baby steps”

Manuel Corpas – “Don’t rely on the future to make your choices now”

Brendan Gallagher – “Let your work’s ripple effects help sort the future out”

Hayley Robinson – When technology outpaces policy

Valentina Nardi – “Like a detective solving a puzzle”

Stephen Kingsmore – “Don’t forget to breathe!”


Who would you like to see interviewed for The Short Read? Let us know via contact@frontlinegenomics.com


 

 

The views expressed in this Short Read are the author’s own and do not necessarily reflect those of the American College of Medical Genetics and Genomics.