Day 3 at ASHG 2015: Real-life application of genetic variations


(Editor’s note: Missed the earlier ASHG recaps? Find them here! Day One Day Two)

In yesterday’s blog, I talked about genetic variability and some concerns about its usefulness. So today, I attended a late evening session, “Clinical Impact of Genetic Variation,” to learn more about how these findings are being used for clinical purposes. The session was led by Dr. Marshall Summar and Dr. Howard McLeod. The session included 8 great talks, each presenting a clear case on how to use a known genetic variant to increase drug efficacy.

Dr. Matthew R. Nelson of GlaxoSmithKline said that about 10% of drugs will have genetic predictors for drug efficiency that can influence clinical decision-making. In another talk, Dr. Nina Gonzaludo presented a very compelling case for using biobank-linked electronic medical records to inform pharmacogenetic studies relating to allele variation. She emphasized that for any electronic medical record (EMR) to be useful, context is important. So when one is creating records from patients on routine visits, it’s critical that all the key pieces of information are included in that record.

The next speaker, Dr. Max He, presented data on efficacy of whole genome sequencing over a lifetime. He sequenced DNA from 300 deceased patients, comparing it to their electronic health records. He presented the case of a patient who had a mutation in the BRCA1 gene that was classified as pathogenic in ClinVar, a NIH database that archives and aggregates information about relationships among variation and human health. The patient died at age 59 with a history of ovarian and breast cancer, as well as a recorded history of routinely skipping annual mammograms. The question was, if NGS had been performed on this patient sample, identifying the pathogenic variant, could the patient have been given better care? Possibly. One of the questions from the audience was whether Dr. He had contacted the patient’s family to warn them about the possibility of carrying the mutation. Dr. He said that he had not done so, and was not sure that the consent form from the patient permitted it.

On that note, let me end today’s report with a question. Would you get your whole genome sequenced today, if your insurance covered it? Would you like to know all the genetic variances in your genes? Why, or why not?

Krishnan Allampallam, Ph.D.

Senior Global Marketing Manager, Translational Sciences

Dr. Krishnan Allampallam has spent over 10 years in the biotechnology industry. Before beginning his career in biotech, Dr. Allampallam worked on pathophysiology of myelodysplastic syndrome and authored and co-authored multiple publications, abstracts and book chapters. He received his Ph.D. from University of Toledo Medical Center in 1996 and did post-doctoral research at The Cleveland Clinic and Rush University Medical Center. He has been at QIAGEN since 2008.

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