ACMG 2018 – “There is Still So Much We Have to Learn”

This year’s ACMG conference in Charlotte, North Carolina, included a very well received first installment of TED-style talks which reflected on the evolution and impact of healthcare. All three talks delivered by Kaylene Ready (Director of Inherited Cancer and a Genetics Counselor, Counsyl), Christian Schaaf (Professor Clinical Genomics, University of Cologne), and Wendy Chung (Associate Professor of Pediatrics, Columbia University Irving Medical Center) were inspirational, and were considered a great addition to ACMG 2018. Takeaways and key messages included: “treat every patient like patient No. 1, always keeping them at the center of the work, and us working as mediators rather than as a barrier”. Image credit: @DeniseCalvert13

Some statistical numbers were eye-opening and challenging as it comes as no surprise that the community currently lacks genetic counselors (GCs), with fewer than 4,000 GCs and 2,000s medical geneticists in the US which translates to one geneticist per ~60,000 people. With new genetic tests generated every day, GCs need to take on the role of mediators. New operational solutions were discussed to address this shortcoming, and as such Kaylene Ready proposed the exploration of chatbots as alternatives to GC service delivery. While certainly an interesting suggestion, we will have to see whether the field with its customers (i.e. patients) is ready to discuss challenging genetics findings with a computer. As a result, it was suggested to decouple Continue reading

AHSG 2017 Roundup – A Shout Out to the Women in Science

This year’s ASHG conference in Orlando was kicked off with an inspiring plenary talk by the ASHG President Dr. Nancy Cox, celebrating diversity, inviting refugees to join the human genetics research mission, and longing for the day when contributions by female scientists will be as valued and as acknowledged as those of men. She concluded with highlighting contributions of women to genetics and science thus far, and by sharing her desire that the future will have a more positive outlook in this regard.

This powerful opening talk was followed by a presentation by Bill Gates and a conversation between Bill Gates and Dr. Francis Collins on global health and genomics. Gates highlighted different projects the Bill & Melinda Gates Foundation had been Continue reading

Bio-IT 2017 – Data Security, Data Sharing, Data Access, Data Integration, Data …

 

The 15th annual Bio-IT conference – with the theme “Building a global network for precision medicine by uniting the Bio-IT community” – clearly had as its underlying theme the many different aspects of data that need to be addressed to make precision medicine a true reality, as echoed throughout the many talks and discussions. This was reflected in both the keynotes, as well as the panel discussions that focused on data regulations, security, and getting patients to feel good about sharing their data. The first hackathon launched by Bio-IT World had the focus on FAIR [findable, accessible, interoperable, and reproducible] data. Many commercial announcements or recent advancements in artificial intelligence revolved around new and improved data analysis solutions. This year’s Best in Show award selections featured Starfish Storage’s Starfish V4, SciBite LaunchPad, SolveBio’s Operating System for Molecular Information, Dana Farber Cancer Institute / The Hyve’s MatchMiner v1.0, and Seven Bridges’ CAVATICA.

Coinciding with Bio-IT were a number of major announcements as listed below: Continue reading

AGBT 2017, a Mix of Single Cell Genomics, Long Read Technology, and More

This year’s meeting followed the true and tested script of past AGBT installments. Similarly to last year’s conference, the technological advancements seemed to have slowed and somewhat resulting in no breakthrough announcements, while a larger emphasis was put on the scientific talks. Software analysis announcements related to secondary and tertiary sequence data analysis solutions were almost not present.

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Interestingly, the much liked software demo session was mostly reduced to three open source demonstrations and a demonstration of Optalysys, a light-based sequence alignment technology. Too bad, as the software demo part provided a great opportunity to get up to speed with the latest developments across the many commercial solutions Continue reading

PMWC 2017 Silicon Valley: Data sharing, privacy, and security

pmwc2017sv-logoThis year’s Precision Medicine World Conference (PMWC 2017 Silicon Valley) was comprised of many exciting sessions and presentations (almost 300 speakers across four tracks) in the area of next-generation sequencing, different diagnostics applications, precision medicine, big data analysis, the microbiome, large cohort studies, biobanking, and data interpretation/knowledge extraction. In addition to providing a great set of overview talks on latest developments and achievements across the health care sector, in pharma, and related to regulatory aspects, this latest rendition of PMWC also featured a government presence (the former FDA Commissioner Dr. Robert Califf and the former Cancer Moonshot Task Force Director Greg Simon) and Elizabeth Baca (Health Advisor to Governor Brown’s Office of Planning and Research) among others that shared with the audience their respective Continue reading

This year’s Bio-IT 2016 With Clinical Genetics as the Frontrunner

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This year’s Bio-IT conference – with theme Big Data – was clearly marked by the presence of clinical genetics: its data sharing, analysis, and interpretation challenges echoed throughout the many talks (and exhibit) whether it was Heidi Rhem’s opening plenary session or George Church’s genomics breakfast session, demonstrating that routine sequencing is within reach. Undoubtedly, there have been great developments in the software space in the past years, but scaling for massive genomics data still requires work! Interestingly, overlapping with Bio-IT 2016, the 13th International Congress of Human Genetics held in Kyoto further exemplified what was communicated Continue reading

At AGBT 2016, the Winners Are Long Reads and Whole Solutions

AGBT_logo_RGBThis year’s pilgrimage of geneticist, genomics scientists, and along with that commercial companies was to the JW Marriott in Orlando and not as usual to Marco Island – however, we were assured that the next two AGBT events are already confirmed to be held on Marco Island again. The Orlando Marriott setting seemed fine; nothing beats the Marco island environment with its beach setting which is well worth the extra hour bus ride from the airport to take you there. Having said this, the setting appeared to be more favorable for the vendors in particular, given the more open arrangement of large suites inviting easy access and interactions with conference attendees. Continue reading

PMWC 2016 Silicon Valley: Scalable Clinical Data Interpretation The Biggest Bottleneck

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This year’s Personalized Medicine World Conference (PMWC 2016 Silicon Valley) was comprised of many exciting sessions and presentations in the area of next-generation sequencing, different diagnostics applications, precision medicine, big data analysis, the microbiome, large cohort studies, biobanking, and data interpretation/knowledge extraction. In addition to providing a great set of overview talks on latest developments and achievements across the health care sector, in pharma, and related to regulatory aspects, this latest rendition of PMWC also featured great government presence with Kathy Hudson (Deputy Director for Science, Outreach, and Policy, NIH) and Elizabeth Baca (Health Advisor to Governor Brown’s Office of Planning and Research) sharing respective updates on Continue reading

The JP Morgan Healthcare Conference from Afar

This being an invitation-only conference, I had to follow the JP Morgan Healthcare conference from a distance. As we have witnessed in the past, exciting announcements happen here in San Francisco around or just before this annual conference and some of the news spark what eventually will become the big trends throughout the year. One could say it is a window to what is just around the corner in 2016.

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Obviously, Illumina made quite the splash with two separate announcements: (1) launch of the new company Grail – major co-investors include Bill Gates, Jeff Bezos, and others – focusing on pre-symptomatic cancer testing based on the hot liquid biopsy-based Continue reading

AHSG 2015 Roundup – Big Data, Heritability, Epigenetics, Enhancers, and Patients as Partners

ASHG-2015-meeting-logoThe ASHG conference in Baltimore was accompanied by some broadly discussed highlights which are reflected in how the media and the social networks embraced it. It was nice to see that the coverage spanned not just commercial launches, but also included research highlights and other general announcements.

Before summarizing the different announcements, I want to state how exciting it was hearing Dr. Francis Collins (Director of NIH) talking about his vision of the new Precision Medicine Initiative (PMI) and the many opportunities it presents to advance its clinical application by creating a cohort of a million individuals. In his presentation, he was asking for a new rule of participants in health studies. In the same go he thanked the Henrietta Lacks family, which was present in the audience, for all they did to further science – the Henrietta Lacks’ descendants now serve as advisers to the NIH.

Another highlight of the conference was the first “Art and Science of Science Communication” session put in place by Chris Gunter, this year’s program Chair. The invited panel consisted of Ed Yong, staff scientist at The Atlantic and author of the blog “Not Exactly Rocket Science”, Liz Neeley, executive director of The Story Collider, and Andrea Downing, author of the blog Brave Bosom and creator of an online community Continue reading