From the President’s Desk: Leslie Biesecker, MD
March 2019

Mona Miller.

Leslie Biesecker, MD, 2019 President

It’s an unprecedented time for human genetics and genomics. Discoveries and technical advances made over decades are now driving unparalleled research opportunities, effective clinical treatments, and new implications for society. I’m grateful to start my year as your president at an exciting and important time for the field and for ASHG. We’re incredibly lucky to be living and working in human genetics during this period of rapid change.

In the span of my career of 26 years, I now do very little that I used to do when I first started in human genetics, and I predict that in five years my job will be completely different yet again. I think that’s wonderful. This pace of change is what makes our field the most invigorating, exciting, challenging science to be involved in. It’s what gets us up in the morning and what makes our field so exciting and rewarding.

Consider the recent advances in cancer screening prompted by identification of a genetic predisposition. Years of research into family history of cancer and the genetic correlates of cancer risk led to the identification of variants associated with disease. This information enables early, targeted screening of patients likely to be at higher risk, and that early detection results in lower morbidity and mortality. The growing field of pharmacogenomics again makes use of genetic information in the development and selection of treatments most likely to work for individual patients.

Another example is sickle-cell disease. It’s a classic example of heterozygote advantage, taught to high school students worldwide to explain why recessive, deleterious alleles persist in a population. It’s also a devastating illness of which we have known the molecular basis for over 50 years. Earlier this year, researchers announced the development of a gene therapy approach to treat sickle-cell, a treatment that took many years of work across basic and clinical genetics and other scientific disciplines to achieve. While we are not there yet, we are tantalizingly close and there is good reason for optimism about an effective treatment.

In all of these examples, researchers working in every facet of our field made necessary, incremental but essential progress over decades of persistent and diligent effort. Our colleagues kept their eye on the prize, knowing that nothing in science comes easily. What’s more, their work involved contributions from all kinds of geneticists. It’s the kind of individual investigation and collaboration amongst the many domains of genetics where organizations like ours thrive.

The Place of the Society in the Field of Genetics

The preeminence and importance of ASHG reflects the excitement in our field. We had the largest ASHG meeting ever in 2018 and our membership surpassed 8,000. The Board is working hard to incorporate this excitement and the changes in our field into the structure and activities of the Society. We are well into the strategic planning process, which is benefiting from extensive input from you over the last year. A major member survey, in-depth interviews with a wide cross section of field leaders, focus groups, and committee feedback have been the foundation for our discussions, and we look forward to reporting out on our strategic directions in coming months.

As we develop our strategic plan, the Society is always mindful that we have two unique, major strengths. One is the power of our collective singular action as the world’s largest, oldest, and most dynamic human genetics society. And one is your individual 8,000 voices.

Our Collective Efforts

The Board believes that the Society can be highly effective when we serve as a unifying and mobilizing force for our large and vibrant research community. This is especially true as genetics and genomic technologies infiltrate and diffuse across scientific disciplines, medical specialties, commercial entities, and educational institutions. To support this breadth of influence of our field, we imagine a future when we expand our programs and build on the strengths of the journal and annual meeting.

For instance, based on your input, we are developing approaches to support ways ASHG can strengthen the member experience by developing tools to support diverse career paths in human genetics at all career stages; advocate more effectively for leadership on diversity and inclusion in science; build broad public attention and appreciation for human genetics; partner with organizations like ACMG, ABMGG, and NSGC; visibly pursue ASHG’s core public engagement and advocacy topics; and create more ways subspecialties and interests can connect and engage with one another.

An example of one of these activities is that we are increasingly adding our collective voice to stay ahead of those challenges and communicate both the benefits of the science and our research-based values. Our first Perspectives piece published in AJHG last fall launched this effort, harnessing ASHG’s scientific expertise to rebut bogus claims tying genetics to the odious concept of “white supremacy.” This was followed by January’s strong statement on non-discrimination that is poised to help us protect genetic privacy in the new Congress. Look for more such collective statements in coming months. These examples and the future activities that will emanate from the strategic plan demonstrate the impact of the collective voice of genetics, articulated through ASHG.

Individual Need & Action

While we share a common voice and collective action, we know that your professional needs, perspectives, and priorities will also vary from that of other members. That is good, healthy, and important for ASHG to understand as we strive to balance our programming among many interests. Some of us are focused on career development while others may be more interested in public engagement or advocacy, and interests may depend on current trends in our home institutions, geographical locations, and personal or scientific passions.

Finally, we know there are many more major issues, educational needs, and public implications of our field than the Society can respond to on its own. That is another place where a diversity of opinions, research agendas, and actions is not only welcome, it’s deeply needed. We encourage you to add your perspective in your communities – get involved in local education activities, publish your perspectives, mobilize in support of federal research, and stand up with the strength of your own voice when our science is misconstrued or misused in the public space.

We’re working to begin new virtual communities for communication and discussion to the tools and guidance you need to advance your individual action priorities. For instance, our new Advocacy Pledge was launched last fall and we’re thrilled to have just launched the renewed and refreshed Genetics Engagement & Education Network.

Together, a Community of Action

In sum, we look forward to helping to ensure a united community and one that is ever more committed to individual action, precisely because shared motivation and breadth of perspective are our greatest strengths. ASHG is, and will continue, speaking out on many topics, drawing our unique expertise and leadership from our 70-year history as the world’s largest research community in human genetics and genomics. Yet the pace of progress and genetic information in the public sphere is growing exponentially daily.

That is where we hope you will continue to lead – you are 8,000 genetics specialists worldwide with a wide variety of expertise, passion, and perspective. We need your many voices and we encourage you to be vocal in what you are discovering, what the science says about emerging issues, and what you believe in the public debate or dialogue. Together, we can help advance human genetics and genomics for all.