ASHG Joining Forces with Groups across Broad Science and Medicine Community

Posted By: Mona Miller, ASHG Executive Director

ASHG is increasing our direct national and international collaboration to achieve results for the human genetics and genomics community. While we are already pursuing strategic action with several genetics and genomic partners on priorities from the recent ASHG member survey, we also are working to identify key strategic partnerships across the wide spectrum of science and medicine. This week, we are especially pleased to announce our participation with some crucial new allies. In months to come, continue to check out new partnerships and collaborations as we grow our work to serve you and the field.

ASHG has joined the American Association for the Advancement of Science (AAAS) as an affiliate. At a time when fact and evidence face challenges on a global scale, the entire community is working to advance evidence-based information. We are strengthened and more united through AAAS, which is building and launching new advocacy strategies for science at the national and local levels. They also serve as key convener for scientific societies across the physical and life sciences and helped spark a national collaboration to combat sexual harassment in STEMM. Importantly, they are also enhancing their work to arm journalists with accurate information about emerging science, including human genetics, and last month’s AAAS Annual Meeting showcased multiple promising studies and challenging questions in our field. We are excited to explore how we can connect into their broader efforts, partner with their global voice, and use resources to help our members communicate and advocate for the tremendous progress and promise of science. Keep an eye out for more information and our recent Q&A with AAAS CEO Rush Holt.

ASHG has joined the Societies Consortium on Sexual Harassment in STEMM. The ASHG Board of Directors is committed to creating a welcoming and safe community within our human genetics and genomics field, and we were very pleased to introduce our new ASHG Annual Meeting Code of Conduct last year to clearly state our expectations for behavior within our events. Yet we know these issues are pervasive and deep seated and will need sustained attention across fields and disciplines. Building on a crucial recent report from the National Academies, the Consortium will unite societies on these issues and help all of us adopt and promote policies and procedures that foster diverse, inclusive, and equitable academic and medical environments. ASHG took part in early dialogue as the consortium was forming last fall, and the group now includes nearly 60 societies, led by groups that include AAAS, the Association of American Medical Colleges and the American Geophysical Union.

We look forward to partnering with these new allies as we work to advance the field of human genetics and genomics!

Expanding Role for Genetic Counselors: Good for Our Profession, Great for Our Patients

Guest Post By: Erica Ramos, MS, CGC, President-Elect, National Society of Genetic Counselors

As we observe the first annual Genetic Counselor Awareness Day on Nov. 9, I can’t help but be astonished by the changes in our profession and how they are shaping, and being shaped by, the exciting advances in how we diagnose and treat genetically-influenced conditions. As President-Elect of the National Society of Genetic Counselors (NSGC), I have never been more proud or excited to declare “I am a genetic counselor!” and share how we bring the voice of patients and clinicians to all areas and applications of genomics.

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Erica Ramos, MS, CGC (courtesy NSGC)

When I completed my genetic counseling training in 2001, I couldn’t have predicted that I would find myself working on the leading edge of clinical genomics. When I began working at a genomics biotechnology company in 2012, I was only the second genetic counselor on staff. According to the 2012 NSGC Professional Status Survey (PSS), a mere 0.5% of our profession was employed by R&D or biotechnology companies.

Four years later, the 2016 PSS showed this had doubled. Today, there are 17 genetic counselors at my company, working collaboratively with scientists, bioinformaticians, developers and executives, contributing our skills and expertise to areas such as medical affairs, market development, product marketing and strategic planning, and sharing the real-world impact that their work ultimately has on patients and their families.

Mine is just one example of genetic counselors’ expanding roles. We are leading patient-centered original research and are integral to Geisinger’s MyCode study, The Ohio State University’s Statewide Colon Cancer Initiative and All of Us, to name just a few. We are driving growth and change in clinic by branching into specialty areas including neurogenetics and psychiatric genetics. NSGC surveys tell the story: In the 10 years leading up to 2016, the number of specialty areas where genetic counselors work went from 14 to 33, a 135% increase.

Vast and exciting career opportunities are fantastic for the genetic counseling profession and ensure a bright future for those entering our field. But as good as this trend is for our profession and the 4,000 certified genetic counselors in the U.S., the benefits are even greater for other genomics professionals and, critically, to patients.

Genetic counselors have deep scientific and medical knowledge. Paired with our communications and counseling skills, we are a valuable resource in translating research advances in genetics and genomics to healthcare providers and patients. As media coverage of these advances expands, providers and patients often have questions about how these new discoveries impact their care. We unravel the complexities of research so that clinicians and patients receive clear, accurate and digestible information, regardless of their culture or background.

So, here’s to Genetic Counselor Awareness Day! Working together to improve appreciation and understanding of how we and our partners in genomics empower patients and their healthcare team and provide them with ever improving personalized attention and care.

Erica Ramos, MS, CGC, is President-Elect of the National Society of Genetic Counselors (NSGC). She has been a member of ASHG since 2014. 

Hurricane Harvey

Posted by: Mona Miller, ASHG Executive Director

As you have likely seen in the news, Hurricane Harvey has caused major flooding and difficult conditions in Houston and the surrounding cities. Our thoughts are with our members, colleagues, the broader scientific community in southeast Texas, and all affected – we hope you and your loved ones are safe.

You may know that The American Journal of Human Genetics editorial office is located in Houston. AJHG’s website notes that their staff is safe, but there might be delays in responding to editorial questions over the next week.

Given that the ASHG 2017 early registration deadline is today, we are providing an extension for those affected by the hurricane. Please email registration@ashg.org for details.

Our thoughts remain with everyone affected.

ASHG’s Response to the Latest Restrictions on Travel to the U.S.

Posted by: Nancy Cox, PhD, ASHG President

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Nancy Cox, PhD, ASHG President

Back in March, when I wrote a letter to ASHG members explaining our opposition to the then-recently announced restrictions on travel to the U.S., I was hoping they would be struck down quickly by the courts without any lasting effects. Unfortunately, that has not been the case. This week, the U.S. Supreme Court released an opinion on the restrictions, and in doing so partially lifted barriers to their implementation that had been imposed by lower courts.

This Supreme Court decision allows the federal government to implement travel restrictions for an interim period while the court considers more fully the legal challenges. This interim set of restrictions applies to fewer people than the previous one, and it appears that people from the affected countries with documented, personal or professional connections to the United States will likely be admitted. This means that most of our members and meeting attendees should not be directly affected (though we continue to advise that you apply for your visa early).

However, even if this is the case, there is another, subtler effect. In the spring, we asked you to tell us your thoughts on these restrictions. We learned that beyond concrete worries about treatment in the U.S. and being able to return to one’s home country, there is also sadness about the sentiment and assumptions behind the policy, as well as concern about its effect on international scientific collaboration.

To those who shared their thoughts and experiences, thank you for your candor. We continue to invite comments from members whose personal lives, careers, and workplaces have been affected; you can write to us at policy@ashg.org.

To those who worry about their travel to ASHG 2017 and other conferences, I want to reiterate that people from all nations are welcome at our meeting. Scientific ideas and findings don’t recognize national borders; indeed, they are strengthened and improved by crossing country lines and being discussed among diverse groups.

These policies are still in flux, and the U.S. Supreme Court will hear arguments for and against the travel restrictions in the fall, before coming to a final decision regarding their legality. In the meantime, we strongly urge non-U.S. meeting attendees to apply for a visa as early as possible. Once you submit an abstract or register for the meeting, you’ll be able to generate a letter of invitation, an important part of your visa application. Please don’t wait until your abstract is accepted to begin this process.

We will continue to monitor these policies as they are clarified, and will keep in touch about the need for further efforts.

Nancy Cox, PhD, ASHG President, directs the Vanderbilt Genetics Institute and is a Mary Phillips Edmonds Gray Professor of Genetics. She is also the Director of and a Professor of Medicine in the Vanderbilt Division of Genetic Medicine.

Welcome to HHMI-ASHG Fellow Jennifer Hu

Posted by: Staff

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Jennifer Hu, HHMI-ASHG Medical Research Fellow (Courtesy Ms. Hu)

In partnership with the Howard Hughes Medical Institute (HHMI), we’re excited to welcome HHMI-ASHG Medical Research Fellow Jennifer Hu, BS, to a year-long position studying arteriovenous malformations. Jennifer, a medical student, is one of 79 HHMI Fellows who will begin their research experience this summer, at laboratories across the U.S.

“The Med Fellows Program allows exceptional MD, DVM, and DDS students to effectively shift course and conduct rigorous research at top institutions across the country…we hope that each student comes away further empowered to pursue a career as a physician-scientist,” said David Asai, senior director in science education at HHMI in a press release.

Jennifer, currently a third-year medical student at the Cleveland Clinic Lerner College of Medicine, will be working with longtime ASHG member Matthew Warman, MD, at the Boston Children’s Hospital. Her project involves understanding how somatic mutations can drive the formation of vascular anomalies – in particular, arteriovenous malformations.

“The options for children currently affected by AVMs are limited and they often recur despite the best medical and surgical efforts,” Jennifer explained. “Using a mouse model, we aim to recapitulate somatic mutations that have been previously identified from patient tissues. Showing that this mutation can recreate the AVM in a mouse model will allow us to understand the development of the disease and have a new model in which to test existing or new therapies,” she said.

Long term, Jennifer plans to build upon this experience to become a physician-scientist. “In medicine, we often hear the phrase, ‘treat the patient, not the disease.’ Our ever-growing understanding of genetics makes disease personal. As a future physician-investigator, I want to partner with patients in research, not just do research with patients,” she said.

Launched 28 years ago, the HHMI Medical Research Fellows Program supports each Fellow through a year-long research project with a mentor of the Fellow’s choosing, and also facilitates peer networking among Fellows and alumni as well as seminars with senior investigators. For more information, see the Program website.

Welcome to Our Blog

Posted by: Staff

Welcome to The ASHG Blog, our newest outlet for sharing news and information with our members and the wider human genetics community! We hope to use this space to update you on Society activities, keep you posted on happenings of interest, spotlight individuals doing fascinating work, and build a stronger connection with members. We encourage you to share your thoughts by commenting on the posts or contacting us.

Interested in contributing to the blog? Please email blog@ashg.org for more information.

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