Last week we went to Boston for the Bio-IT World Conference 2016. During three days of the conference we met loads of interesting people, listened to exciting talks and had a chance to see what other companies are up to.
Each day of the conference started with keynote talks, delivered by leaders in the field, setting a general tone of discussions during the conference. This year we were mostly looking at personalized medicine: discussing the past, looking at what we are doing now and planning what has to be done in the future.
Here are our chosen highlights of these talks:
The importance of straightforward clinical reports
Heidi L. Rehm, Clinical Director of Broad Institute Clinical Research Sequencing Platform was the first keynote speaker. Dr. Rehm emphasized the importance of sharing data, and described resources like ClinVar and ClinGen that make use of community and expert review to create a crowd-sourced curation environment which allows cataloguing and reporting variants that can be reliably used in medical practice.
We were especially impressed with her description of Variant Explorer, a site created by the 13 year old wiz kid Justin Aronson. This project highlights discrepancies and concordances reported for variants from different laboratories. One takeaway from this is that before sharing data there was only 34% concordance between different labs, but after discussion and evidence sharing this rose to 70%. This theme was repeated several times during the conference.
Interestingly, Dr. Rehm spoke about genomics from the point of view of clinicians and highlighted the importance on putting genomic information into reports that can be understood by all doctors. Here at Genestack we also think that sharing and reporting data clearly is a critical matter and we are working hard on making sure our system can be used by anyone, from bioinformaticians to doctors with no coding experience.
Rare disease, big problem.
Howard Jacob, Chief Medical Genomics Officer of HudsonAlpha, gave an inspiring speech highlighting the importance of rare disease research. In the United States, the Rare Diseases Act of 2002 defines rare disease as any disease or condition that affects fewer than 200,000 people in the United States. Dr. Jacob pointed out that these numbers may seem low, but if we look at subcategories of various well known diseases such as cancer, and treat them as separate diseases, it turns out that rare diseases are actually quite common. We learned that it is estimated that 5-10% of US population has a rare, undiagnosed disease. In most cases it takes 7+ years to get a proper diagnosis with 3 misdiagnosis in 8 different visits. On top of that, in total 1 in 20 of all diagnosis made are errors (with 62 misdiagnosis/year/clinician). Is there a way to improve these horrific statistics? Yes, precision medicine.
You are all a big data problem for your physician
To look at each patient individually and use tailored treatment options rather than blueprint medicine, we need to find a way to provide a clinician with an easily-digested set of genomic information about each individual in a very short time span. Storage, bioinformatics and amount of data needed to make diagnosis are currently being the biggest challenges.
How much genome do we test? In his speech, Dr. Jacob strongly advocated the benefits of Whole Genome Sequencing over Whole Exome Sequencing. He claimed that by looking at exomes alone, we might only be making 30% of diagnosis. Even though introns are considered “junk” DNA, they are highly conserved and is it unlikely that it is an accidental conservation. Dr. Jacob argued that we will never know the importance of these intronic regions if we only collect exome data and that we need to sequence more genomes before we start uncovering this secret. What should doctors choose? WES or WGS? Dr. Jacob proposed a simple test: if you are okay with using WES to diagnose your family members, then you can use it on your patients. If for your family you would choose Whole Genome Sequencing, you should do the same for your patients.
Healthcare system = sick care
On the last day of the conference, keynote speakers were looking into the future of healthcare. Nowadays, patients only see doctors when they are already exhibiting symptoms. We all know that the earlier we catch a disease, the bigger the chances of fighting it are. Can we transition to preventative system?
Yaron Turpaz, Chief Information Officer of Human Longevity, Inc. was talking about Health Nucleus, a project that incorporates the use of whole genome sequencing, whole body scanning, various body fluids testing and deep family history to deliver a complete picture of individual health. This sounds very exciting, but, as pointed out by the audience, costing $25000, is far from accessible for most individuals. Nevertheless, we all agreed that it is a step in a good direction and we should definitely work hard to transform the healthcare system.
Last, but not least, we would like to mention that Bio-IT runs a few Awards Programs. One of them is the Benjamin Franklin Award for Open Access in the Life Sciences, which this year went to Benjamin Langmead, the author of Bowtie: a fast, memory-efficient short read aligner. We would like to congratulate the winner and mention that we use this app on Genestack Platform.
Honourable Mention in the Informatics Tools & Data Analytics Category of Best of Show Award 2016
Another award program is the Best of Show program, which recognizes the top innovative product solutions for the life sciences industry on display at the conference in Boston. Genestack Platform was awarded with an Honourable Mention in the Informatics Tools & Data Analytics category. Judges were particularly impressed with the flexibility of the system we have developed. You can read more about the features of our platform here.
Congratulations to all other companies recognized by the judges! Read more about the awarded innovative products here.
All in all, we had a splendid time and we are looking forward to Bio-IT World Conference 2017.