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Advancing Precision Medicine Through Informatics Webinar – Q & A

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Thank you all for attending the emerging tech webinar on Advancing Precision Medicine Through Informatics, organized by BIS Research. During the webinar, significant insights were shared on how informatics can help advance the concept of precision medicine. The aim of the webinar was to provide insights about advancements in precision medicine through, business impact of data integration and informatics, and strategies that can drive success in the precision medicine.

Here’s a list of questions that were raised during the webinar that featured Simon Lee, Chief Commercial Officer at Jintel Health.

Q. What type of GWAS and PheWAS methodology is used as a standard model since there are various methodologies available? How the larger datasets such as UK biobank TopMed, GenBank can be integrated?

Answer: There are different types of sequencing such as whole genome sequencing (WGS), whole exome sequencing (WES), and is certain limited test panels.  The result of sequencing could also be based on GRCh37 or GRCh38. Depending on which data sets we are trying to combine, we try and normalize the genomic data to the least common denominator. As for the clinical data, we also normalize them to common medical vocabularies.

Q. Traditionally we diagnose the cancer by pathology, which is based on a tissue specimen, by looking at it visually ̶ looking at it through the microscope. In the future, if we diagnose the cancer through the genome sequencing and informatics tools, what do you think about false positive results and how they can be avoided?

Answer: In the future, if we use analytics and genomics to diagnose cancer, it should serve as a screening tool. The patient can still be operated under traditional methods just to make sure they have been diagnosed correctly. With the use of sequencing and informatics tools for identification of people with higher risk of breast cancer and hereditary colon cancer these cases can be avoided. Also, the use of genome sequencing and informatics tools gives the patient a better chance of early detection

Q. Certainly, informatics will be the indispensable component of Precision Medicine in the future, however it also raises the question of privacy and security of the data shared between stakeholders. What do you think can be done to insure consumer trust in this PM era?

Answer: Privacy of genomic data is certainly important, and it should be treated the same way as any other form of private clinical information a patient. However, it is as important that a patient’s genomic information should only be used for the treatment of that patient. For example, it should not be used by the insurance company to deny coverage or raise premium because of certain genetic dispositions.

Q. We have recently seen a lot of pharma and diagnostic companies are partnering with Informatics companies, is this trend continue to occur in future, and if so, what are the implications?

Answer: Yes, the trend of collaboration between informatics and pharma diagnostic companies is going to increase. As mentioned during the webinar that the Roche’s acquisition of Flatiron in 2018 happened and another instance of partnership between wehealth and curematch in March 2019 to provide informatics solutions. Of late, the industry has been witnessing a number of collaborations happening and it showcases that this trend is likely to continue in future as well.

Q. Informatics and Analytics need to be constantly updated for example a new case will require new algorithm or latest a change, how Jintel Health is doing this and how will machine learning work in this case?

Answer: Jintel health uses machine learning against large data sets i.e. a minimum of 300 or 400 patients to actually train machine learning and as new records come in and new needs come in, we at Jintel health run the data through machine learning algorithm for further results.

Q. In terms of career options, what are the skill sets required for a computer science student to become successful in the precision medicine job market?

Answer: There are several companies that are working in data science and informatics and others they are working in the biosciences side. First you need to decide as to what type of company and where in that company you fit in. If it is on the informatics side, then someone with computer science background is a good fit, someone who can understand machine learning, NLP, data set, data management and data security.

Q. Multiscale information aggregation & visualization, how can it be used with regards to tumor profiling?

Answer: At Jintel Health, we are taking the molecular report from a commercial company like Foundation or from an internal lab. We take the data feed directly from the lab, or we use OCR and NLP to convert that unstructured data to structured data. We can then compare that against the data set that we are using for Artificial Intelligence (AI) to look for different tumor, tumor size, and stage, among others and record that information for the patient from the molecular lab.

In case you missed the webinar, it is now available on demand. To view the recording of the webinar, click here.

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BIS Research is pleased to announce that next webinar emerging tech webinar on ‘NGS Data Management: Turning Data Into Knowledge’ will be conducted on Thursday, June 13, 2019,  at 10:30 – 11:00 AM PDT, with guest speaker Jean-Marc Holder, Chief Operating Officer, SeqOne Genomics