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Molecular Diagnostics Presents…

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The Molecular Diagnostics virtual conference is this week! Beginning Wednesday, April 12, experts will discuss molecular diagnostics as it relates to microbiome testing, risk assessment and disease management, and will continue Thursday, April 13, to expound on its relations to virology, revolutionizing biomarkers and benchmarks for metagenomics.

We are very excited to present this year’s keynote speakers. All three experts have greatly contributed to the introduction and growth of Molecular Diagnostics, and remain on the forefront of new findings and technologies. All keynote presentations are certified for P.A.C.E. Continuing Education Credits.

img_2045Dr. Robert Nussbaum MD, FACP, FACMG is currently the Chief Medical Officer of Invitae, a genetic information and diagnostic company. He previously was a Professor, Division Chief, and Medical Director at UCSF, and served 12 years as Chief of the Genetic Diseases Research and Inherited Disease Research Branches at the Division of Intramural Research of the National Human Genome Research Institute, NIH.

Dr. Nussbaum will give a Keynote Presentation on “Variant interpretation in Molecular Diagnostics: Challenges and Knowledge Gaps.”

With the increased availability and decreased costs of DNA sequencing, the diversity of human sequence between individuals has become more and more apparent. This diversity is not only seen in single nucleotide variants but also deletions/duplications, insertions/deletions, and copy number variants. Performing molecular diagnostics of single-gene (Mendelian) disorders is an enormous challenge because very serious medical decision making rests on a correct interpretation of the clinical meaning of variants, both in affected individuals and when sequencing is used for screening purposes. New proposals have established a set of criteria to guide the placement of any variant into one of five classes: Benign, Likely Benign, Likely Pathogenic, Pathogenic, and Variant of Uncertain Significance (VUS). This has improved the rigor and reproducibility of variant interpretation but much remains to be done to make variant interpretation more accurate and scalable if we are to deploy genomics more widely in medicine.

img_2044Dr. Catherine Behrens, MD, PhD, FACOG currently serves as a consultant in women’s health care. Dr. Behrens was in clinical practice for over 20 years and maintains board certification from the American College of Obstetricians and Gynecologists. Dr. Behrens returned to research in the women’s health field, initially at Genomic Health and then serving as Senior Director for Clinical Research at Roche Molecular Diagnostics.

Dr. Behrens’ Keynote Presentation is titled, “Assessing Risk in Cervical Cancer Screening Management: The Role of HPV Genotyping.”

Screening for cervical cancer represents one of the greatest successes achieved in disease prevention. Cytology has been central to cervical cancer screening programs for over 50 years and has contributed to the 70% decline in rates of cervical cancer in the developed world. New guidelines recommend using a combination of cervical cytology, tests for HPV, and genotype-specific HPV testing for women undergoing screening for cervical cancer.

Subsequent guideline changes have presented challenges to both laboratories and clinicians. Dr. Behrens’ talk will simplify approaches to cervical cancer screening and management by reviewing the role of HPV genotyping in risk management. By utilizing a risk assessment approach, laboratorians and clinicians will better be able to choose the most efficient screening methodology and also more easily manage results that are often confounding and confusing.

img_2043Dr. Christopher Mason, PhD, is currently an Associate Professor at Weill Cornell Medicine Department of Physiology and Biophysics, and Principal Investigator or co-Investigator on several NASA missions and projects.

Dr. Mason’s laboratory builds and deploys biochemical and computational technologies to understand and engineer human and other genomes. He is also involved with NASA missions to discern the molecular basis of changes in the human body during long-term human space travel. Currently, he is working to optimize a new method of space-based DNA nanopore sequencing that could enable mid-mission, rapid pathogen diagnostics for astronauts, create new applications of sequencing for space exploration (exobiology), and to discover novel DNA/RNA base modifications.

Dr. Mason will give his Keynote Presentation on “DNA Standards and Bioinformatics Benchmarks for Metagenomics.”

Genomics and metagenomics have become ubiquitous research efforts. This presentation will show details of the development of physical, computational, and even space-based standards for metagenomics, as part of the International Metagenomics and Microbiome Standards Alliance (IMMSA). In addition, pilot data will be discussed for enabling patients to become more involved in their ‘omics data, including an integrative genomics view of entire cities that leverages longitudinal metagenome and microbiome profiles of the world’s subway systems and cites.

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