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The Festival of Genomics and Biodata 2023 Comes to Boston

One of the most anticipated returns to normalcy following the pandemic is the in-person conference. Like the mythical Phoenix bird arising from the ashes, live get-togethers are finally replacing zoom life, bringing back the sharing of ideas and spontaneity that catalyzes insights and inspiration – especially in science and technology.

The Festival of Genomics and Biodata comes to the Boston Convention & Exhibition Center October 4-5. More than 150 speakers presenting in 7 “theaters” will cover a diversity of topics, plus round table discussions, “speed networking,” and poster, career, and start-up “zones.” Researchers, clinicians, and those working in drug discovery and development are welcome.

Front Line Genomics (FLG) is organizing the meeting. The best part? For 90 percent of participants, the conference is free! More than 2,000 attendees have already signed up. Register here.

Boston was home to one of the first human genome conferences I attended, in 1985, just a few years after earning my PhD in genetics. As human genome meetings popped up across the country, talk of taking on such a huge endeavor became contentious at first, and then coalesced within three years as the Human Genome Project kicked off.

Front Line Genomics

UK-based Front Line Genomics is offering the upcoming conference. Their mission: “to deliver the benefits of genomics to patients faster,” through their website, publications, and events.

Biochemist Richard Lumb founded Front Line Genomics in 2009, when he lost his father to mesothelioma, a rare cancer associated with asbestos exposure. “Shortly after he died, I read more about mesothelioma and how a person’s genetic make-up can increase susceptibility. This led to an interest in the growing role of genomics in healthcare and society. I wanted to play a role in accelerating the impact of genomics knowledge on people’s lives, to make a difference for people like my dad.”

Soon after Front Line Genomics launched in 2014, planning began on a ‘Woodstock for Genomics,” which became the Festival of Genomics. The eighth annual Festival in the UK was in January 2023.

Something for Everyone

The theme will be the pangenome: capturing the genomic diversity of ALL humanity. The idea of “the” human genome has finally vanished. (See The Age of the Pangenome Dawns).Speakers hail from biobanks, industry, academia, government, health care systems, and tech centers and institutes.

Karen Miga, associate director of the UCSC Genomics Institute, will discuss the “Human Pangenome Project: Creating a Reference that Better Represents Human Global Genetic Diversity.” And Ebony Madden, program director for the Training, Diversity, and Health Equity Office at NHGRI, will present “Genomics with a Health Equity Lens.”

Topics cover all things genomics, from dissecting microbiomes to genomic surveillance of mosquitoes. In addition to rare genetic diseases, talks at the Festival will address Crohn’s disease, rheumatoid arthritis, polycystic ovarian syndrome, and neurological disease and cancers. An ethics session will cover polygenic risk scores and pharmacogenomics.

Two compelling talks will be “Long Noncoding RNAs as Key Regulators of Mood in Women,” from Orna Issler at the Neuroscience Institute at NYU Langone, and “Advising the US Congress and Policymakers on Issues Related to Pathogen Genomics,” from Sarah Harvey, from the US Government Accountability Office. Workshops and panel discussions will address the power and challenges of single-cell transcriptomics and integrating multi-omics data.

Fireside chats are particularly exciting. Barbara Rae-Venter, a retired patent attorney and biologist, made headlines when she brought her expertise as a genetic genealogist to the search for the Golden State Killer Joseph James DeAngelo. George Church, who leads Synthetic Biology at the Wyss Institute and is the Robert Winthrop Professor of Genetics at Harvard Medical School, will present another Fireside Chat. And in another, Antonio Regalado of MIT Technology Review and J. Craig Venter (JCVI) will present The Past, Present and Future of Genomics.

My Meeting Memories

I’ve attended educational meetings as a speaker and technical conferences as a science journalist for a variety of publications and as author of the textbook Human Genetics: Concepts and Applications (just published in the 14th edition but not yet available). Over the years I’ve taken advantage of the special access to speakers and events granted to those of us who chronicle the field.

I’ve run into several famous folk.

Sometime in the late 1980s I spent an evening chatting with Kary Mullis at a small biotech gathering in San Diego. I interviewed him for Genetic Engineering News, where I covered gene amplification – a field that began with Mullis’s PCR. Much of his language was unprintable, but I’m glad I got to meet him.

I attended the first meeting of H3Africa/ (Human Heredity and Health in Africa) in 2011, in Cape Town. I recall following around Charles Rotimi, currently Scientific Director of NHGRI, with questions about a comment he’d made at a talk. I finally caught up to him on Robben Island – as we were randomly paired to stand at the prison cell of Nelson Mandela. Obviously, I never asked my questions.

I’ve attended many annual meetings of the American Society of Human Genetics (ASHG), as part of an undergraduate education workshop just prior to the main event. The October 2007 general meeting featured a panel of physicians and genetic counselors representing a trio of companies announcing plans to market direct-to-consumer (DTC) genetic tests in the coming year, deCODE Genetics and 23andMe among them. Audience response afterwards was rather negative, lively discussion continuing as attendees even passed by the free food.

But five years later, reaction at ASHG was mostly positive. Attendees asked how the tests, still pricey, could reach more diverse communities.

Often what I learned at conferences made its way into my textbook, from posters to chats at exhibitions to talks.

At ASHG in 2017, a poster about how genetic researchers should approach people of Australian aborigine heritage drew my attention, particularly the fact that members of indigenous groups do not take well to white scientists calling them “vanishing peoples,” then trying to sample their blood. The poster was from a young researcher in the group of Sheila M. van Holst Pellekaan from the University of New South Wales. (See Socially Responsible Genetic Research with Descendants of the First Australians from 2012.) The information on the poster inspired a “Case Study and Research Results” question in my book’s chapter on Human Ancestry and Evolution:

“A genome from a person of aborigine ancestry was sequenced from a 100-year-old museum sample. What steps should researchers take when attempting to acquire DNA samples from modern descendants? From people who have died?”

Another contribution from a conference to my textbook came from Eimear Kenny, Founding Director of the Institute for Genomic Health at the Icahn School of Medicine at Mount Sinai, on the importance of recognizing the genetic substructure of a population. I attended her talk at ASHG 2017; she won the Early Career Award in 2022. And she will speak at the Festival of Genomics and Biodata.

In 2017, Kenny discussed Steel syndrome, a collagen (COL27A1) disorder rare in the general population but clustered among the 8,000 or so people of Puerto Rican ancestry living in East Harlem. Without knowing that a patient is from this group, a physician might perform hip surgery that can worsen symptoms. Kenny and her colleagues identified a genetic signature of Puerto Rican descent so distinctive that they could even tell people who knew only that they were Hispanic/Latino that their ancestors came from the island. Steel syndrome causes characteristic facial features, joint pain, short stature, dislocations, fused finger and toe bones, scoliosis, and pinched neck. An orthopedist, Steel, first described it in 1993 in 23 children from Puerto Rico.

Kenny’s work inspired a chapter section in my textbook: “Population Matters: Steel Syndrome in East Harlem.”

Another way to connect with experts is in the pressroom. I was lucky at the ASHG meeting in October 2015. All the journalists except me and one other went on a trip right after CRISPR inventors Jennifer Doudna and Emmanuelle Charpentier accepted the Gruber Genetics Prize. The pair then stopped by the pressroom – surprised to see only myself and the writer from Science News. The women were wonderfully down-to-earth, stunned at all the attention since they published their key paper in 2012. They shared the Nobel Prize in 2020. That chat led to A Conversation with CRISPR-Cas9 Inventors Charpentier and Doudna.

Exhibitions can be the most productive and fun part of a meeting, a time of networking and learning what’s new or coming down the pike – especially after lockdown. But one such event has had an unexpected and lasting effect on me.

I didn’t even recall providing a DNA sample to years ago at a conference, when, in 2018, a woman who thought she was my cousin contacted me. When I saw the raw data, the percent shared centimorgans, I knew instantly that she was in fact my half-sister. Some testing companies return results of “cousin” so as not to panic spitters.

I wrote “I’m a Geneticist: A DNA Test Uncovered a Half Sister and Sparked Painful Questions, published just a week before I discovered half-sister #2. And over the next year, we discovered ten more half-siblings – some of whom are in denial or do not know – thanks to a long-ago, and secret, sperm donation. Here is the New York Times podcast on my unexpected story.

Genetic information is powerful, in many ways. The Festival of Genomics and Biodata will provide a look ahead to the age of pangenomics, when the genetic diversity of us all will come to light.

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